#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
CASP9	842	broad.mit.edu	37	1	15833532	15833532	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:15833532G>A	ENST00000333868.5	-	4	586	c.492C>T	c.(490-492)ctC>ctT	p.L164L	CASP9_ENST00000348549.5_Intron|CASP9_ENST00000546424.1_Silent_p.L164L|CASP9_ENST00000375890.4_Silent_p.L81L	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	164					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.L164L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		TGTTGATAATGAGGCAGTGGC	0.612																																						uc001awn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|kidney(1)	2						c.(490-492)CTC>CTT		caspase 9 isoform alpha preproprotein							87.0	88.0	87.0					1																	15833532		2203	4300	6503	SO:0001819	synonymous_variant	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15833532G>A	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.492C>T	1.37:g.15833532G>A						CASP9_uc001awm.1_Silent_p.L164L|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Silent_p.L8L|CASP9_uc009voi.2_Silent_p.L8L|CASP9_uc010obm.1_Silent_p.L81L|CASP9_uc001awq.2_Silent_p.L81L	p.L164L	NM_001229	NP_001220	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	4	587	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	164					B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Silent	SNP	ENST00000333868.5	37	c.492C>T	CCDS158.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357260	0.24598	.	.	ENSG00000132906	ENST00000424908	.	.	.	5.78	3.86	0.44501	.	.	.	.	.	T	0.67401	0.2889	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64411	-0.6414	4	.	.	.	.	12.8274	0.57726	0.0:0.3149:0.6851:0.0	.	.	.	.	Y	6	.	.	H	-	1	0	CASP9	15706119	1.000000	0.71417	0.995000	0.50966	0.946000	0.59487	0.931000	0.28871	0.756000	0.33013	0.561000	0.74099	CAT		PASS	0.612	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		27	111	27	111	---	---	---	---
SZRD1	26099	broad.mit.edu	37	1	16721555	16721555	+	Missense_Mutation	SNP	G	G	A	rs371668167		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:16721555G>A	ENST00000401088.4	+	4	554	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SPATA21_ENST00000466212.1_5'Flank|SZRD1_ENST00000375590.3_Missense_Mutation_p.E107K|SZRD1_ENST00000492354.1_Missense_Mutation_p.E107K|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000471507.1_Missense_Mutation_p.E126K|SZRD1_ENST00000401089.3_Missense_Mutation_p.E108K	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	127								p.E108K(1)|p.E127K(1)									CTCCCAACCCGAAGACAGCAG	0.453																																						uc001aym.3																			2	Substitution - Missense(2)		lung(2)		0						c.(379-381)GAA>AAA		putative MAPK activating protein PM20,PM21		G	LYS/GLU,LYS/GLU	0,3848		0,0,1924	60.0	61.0	61.0		379,322	5.8	1.0	1		61	1,8245		0,1,4122	no	missense,missense	C1orf144	NM_001114600.1,NM_015609.3	56,56	0,1,6046	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging,probably-damaging	127/153,108/134	16721555	1,12093	1924	4123	6047	SO:0001583	missense	26099							g.chr1:16721555G>A	BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 144"""	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.379G>A	1.37:g.16721555G>A	ENSP00000383866:p.Glu127Lys					C1orf144_uc010ocb.1_Missense_Mutation_p.E107K|C1orf144_uc001ayi.3_Missense_Mutation_p.E108K|C1orf144_uc001ayk.3_Missense_Mutation_p.E107K	p.E127K	NM_001114600	NP_001108072	Q7Z422	CA144_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	4	549	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	127					A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Missense_Mutation	SNP	ENST00000401088.4	37	c.379G>A	CCDS44065.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941843	0.73557	0.0	1.21E-4	ENSG00000055070	ENST00000401088;ENST00000471507;ENST00000401089;ENST00000434120;ENST00000375590;ENST00000492354	.	.	.	5.82	5.82	0.92795	SUZ-C domain (1);	0.046929	0.85682	D	0.000000	T	0.68265	0.2982	L	0.29908	0.895	0.80722	D	1	B;B;D;D	0.89917	0.24;0.005;1.0;1.0	B;B;D;D	0.83275	0.02;0.002;0.996;0.992	T	0.69978	-0.4998	9	0.66056	D	0.02	-7.7124	19.0738	0.93151	0.0:0.0:1.0:0.0	.	107;127;107;108	F8WEE8;Q7Z422;Q7Z422-2;Q7Z422-4	.;CA144_HUMAN;.;.	K	127;126;108;127;107;107	.	ENSP00000364740:E107K	E	+	1	0	C1orf144	16594142	1.000000	0.71417	0.966000	0.40874	0.995000	0.86356	8.941000	0.92964	2.734000	0.93682	0.655000	0.94253	GAA		PASS	0.453	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006283.2	NM_015609		12	57	12	57	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27092947	27092948	+	Splice_Site	DNP	GG	GG	CT			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:27092947_27092948GG>CT	ENST00000324856.7	+	10	3249_3250	c.2878_2879GG>CT	c.(2878-2880)GGg>CTg	p.G960L	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Splice_Site_p.G960L|ARID1A_ENST00000374152.2_Splice_Site_p.G577L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	960					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.?(2)|p.G960V(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTCTTTTACAGGGATGGCAGCC	0.45			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.e10-1|c.(2878-2880)GGG>GTG		AT rich interactive domain 1A isoform a																																				SO:0001630	splice_region_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27092947G>C|g.chr1:27092948G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	Exception_encountered	1.37:g.27092947_27092948delinsCT						ARID1A_uc001bmt.1_Splice_Site_p.G960_splice|ARID1A_uc001bmu.1_Splice_Site_p.G960_splice|ARID1A_uc001bmw.1_Splice_Site_p.G577_splice|ARID1A_uc001bmt.1_Missense_Mutation_p.G960V|ARID1A_uc001bmu.1_Missense_Mutation_p.G960V|ARID1A_uc001bmw.1_Missense_Mutation_p.G577V	p.G960_splice|p.G960V	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	10	3252	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	|960					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Splice_Site|Missense_Mutation	SNP	ENST00000324856.7	37	c.2879_splice|c.2879G>T	CCDS285.1																																																																																				PASS	0.450	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	Missense_Mutation	20|18	36	18	36	---	---	---	---
MAP3K6	9064	broad.mit.edu	37	1	27682928	27682928	+	Silent	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:27682928C>T	ENST00000493901.1	-	27	3827	c.3588G>A	c.(3586-3588)caG>caA	p.Q1196Q	MAP3K6_ENST00000357582.2_Silent_p.Q1196Q|MAP3K6_ENST00000374040.3_Silent_p.Q1188Q	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1196					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)	p.Q1188Q(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CATTCAGCCGCTGTAGAGCCC	0.612																																						uc001bny.1																			1	Substitution - coding silent(1)		lung(1)	breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9						c.(3586-3588)CAG>CAA		mitogen-activated protein kinase kinase kinase							29.0	33.0	32.0					1																	27682928		2203	4300	6503	SO:0001819	synonymous_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27682928C>T	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3588G>A	1.37:g.27682928C>T						MAP3K6_uc009vsw.1_Silent_p.Q1188Q	p.Q1196Q	NM_004672	NP_004663	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	26	3837	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1196			Potential.		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	c.3588G>A	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	6.228	0.410220	0.11812	.	.	ENSG00000142733	ENST00000486046	.	.	.	5.45	2.25	0.28309	.	.	.	.	.	T	0.24005	0.0581	.	.	.	0.21861	N	0.999507	.	.	.	.	.	.	T	0.20306	-1.0279	4	.	.	.	.	3.0775	0.06251	0.332:0.4292:0.1518:0.0869	.	.	.	.	N	12	.	.	S	-	2	0	MAP3K6	27555515	0.011000	0.17503	0.105000	0.21289	0.018000	0.09664	0.095000	0.15127	0.591000	0.29711	0.655000	0.94253	AGC		PASS	0.612	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		19	28	19	28	---	---	---	---
LCK	3932	broad.mit.edu	37	1	32740636	32740636	+	Missense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:32740636A>T	ENST00000336890.5	+	4	368	c.230A>T	c.(229-231)gAc>gTc	p.D77V	LCK_ENST00000333070.4_Missense_Mutation_p.D77V|LCK_ENST00000373564.3_Missense_Mutation_p.D135V	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	77	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.D77V(1)|p.D135V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	CCCTCTCACGACGGAGATCTG	0.597			T	TRB@	T-ALL																																	uc001bux.2				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		2	Substitution - Missense(2)		lung(2)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(229-231)GAC>GTC		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						114.0	103.0	106.0					1																	32740636		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32740636A>T	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.230A>T	1.37:g.32740636A>T	ENSP00000337825:p.Asp77Val					LCK_uc001buy.2_Missense_Mutation_p.D77V|LCK_uc001buz.2_Missense_Mutation_p.D77V|LCK_uc010ohc.1_Missense_Mutation_p.D121V|LCK_uc001bva.2_Missense_Mutation_p.D135V	p.D77V	NM_005356	NP_005347	P06239	LCK_HUMAN			4	368	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	77			SH3.		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.230A>T	CCDS359.1	.	.	.	.	.	.	.	.	.	.	a	21.5	4.156070	0.78114	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T	0.53423	0.62;1.29;0.64;2.09;1.29;0.64;0.62;0.64	5.13	5.13	0.70059	Src homology-3 domain (4);	0.000000	0.64402	D	0.000016	T	0.61388	0.2343	M	0.67625	2.065	0.80722	D	1	P;D;P;P	0.54964	0.844;0.969;0.812;0.844	P;P;P;P	0.56788	0.703;0.806;0.578;0.703	T	0.64824	-0.6316	10	0.56958	D	0.05	.	14.2867	0.66251	1.0:0.0:0.0:0.0	.	121;135;77;77	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	V	77;135;77;135;77;121;77;121;135	ENSP00000337825:D77V;ENSP00000431517:D135V;ENSP00000435605:D77V;ENSP00000434525:D135V;ENSP00000362663:D77V;ENSP00000362658:D121V;ENSP00000328213:D77V;ENSP00000362665:D135V	ENSP00000328213:D77V	D	+	2	0	LCK	32513223	0.851000	0.29673	0.987000	0.45799	0.957000	0.61999	1.846000	0.39289	2.084000	0.62774	0.449000	0.29647	GAC		PASS	0.597	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		19	104	19	104	---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40767500	40767500	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:40767500C>A	ENST00000372748.3	-	31	1950	c.1854G>T	c.(1852-1854)ggG>ggT	p.G618G	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	618	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G618G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TCCCTGGGGGCCCAGGCATCC	0.557																																						uc001cfh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1852-1854)GGG>GGT		alpha 2 type IX collagen precursor							41.0	43.0	42.0					1																	40767500		2203	4300	6503	SO:0001819	synonymous_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40767500C>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1854G>T	1.37:g.40767500C>A						COL9A2_uc001cfi.1_Silent_p.G437G	p.G618G	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		31	1924	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	618			Triple-helical region 2 (COL2).		B2RMP9	Silent	SNP	ENST00000372748.3	37	c.1854G>T	CCDS450.1																																																																																				PASS	0.557	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		14	17	14	17	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44056825	44056825	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:44056825G>A	ENST00000359947.4	+	9	1472	c.1132G>A	c.(1132-1134)Ggc>Agc	p.G378S	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372413.3_Missense_Mutation_p.G378S|PTPRF_ENST00000372414.3_Missense_Mutation_p.G378S|PTPRF_ENST00000438120.1_Missense_Mutation_p.G378S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	378	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G368S(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCATTGGCGGCCTCAGCCC	0.662																																						uc001cjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(1132-1134)GGC>AGC		protein tyrosine phosphatase, receptor type, F							47.0	51.0	49.0					1																	44056825		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056825G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1132G>A	1.37:g.44056825G>A	ENSP00000353030:p.Gly378Ser					PTPRF_uc001cjs.2_Missense_Mutation_p.G378S|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	p.G378S	NM_002840	NP_002831	P10586	PTPRF_HUMAN			9	1472	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	378			Extracellular (Potential).|Fibronectin type-III 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.1132G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.069823|5.069823	0.93950|0.93950	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413|ENST00000412568	T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.34986|.	N|.	0.003535|.	T|T	0.70727|0.70727	0.3257|0.3257	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.997;1.0|.	T|T	0.65788|0.65788	-0.6083|-0.6083	10|5	0.44086|.	T|.	0.13|.	.|.	19.7371|19.7371	0.96210|0.96210	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	378;378|.	P10586-2;P10586|.	.;PTPRF_HUMAN|.	S|Q	378|45	ENSP00000353030:G378S;ENSP00000398822:G378S;ENSP00000361491:G378S;ENSP00000361490:G378S|.	ENSP00000353030:G378S|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43829412|43829412	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.907000|0.907000	0.53573|0.53573	9.860000|9.860000	0.99555|0.99555	2.758000|2.758000	0.94735|0.94735	0.563000|0.563000	0.77884|0.77884	GGC|CGG		PASS	0.662	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			40	55	40	55	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44072012	44072012	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:44072012G>A	ENST00000359947.4	+	20	3925	c.3585G>A	c.(3583-3585)ccG>ccA	p.P1195P	PTPRF_ENST00000422171.2_Silent_p.P543P|PTPRF_ENST00000372413.3_Silent_p.P1186P|PTPRF_ENST00000372414.3_Silent_p.P1195P|PTPRF_ENST00000438120.1_Silent_p.P1186P|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1195					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P1185P(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGTGCTCCCGGAGACCTTTA	0.597																																						uc001cjr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(3583-3585)CCG>CCA		protein tyrosine phosphatase, receptor type, F							110.0	121.0	117.0					1																	44072012		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44072012G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3585G>A	1.37:g.44072012G>A						PTPRF_uc001cjs.2_Silent_p.P1186P|PTPRF_uc001cju.2_Silent_p.P573P|PTPRF_uc009vwt.2_Silent_p.P755P|PTPRF_uc001cjv.2_Silent_p.P655P|PTPRF_uc001cjw.2_Silent_p.P421P	p.P1195P	NM_002840	NP_002831	P10586	PTPRF_HUMAN			20	3925	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1195			Extracellular (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3585G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.859|7.859	0.725723|0.725723	0.15439|0.15439	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.2|5.2	-10.4|-10.4	0.00318|0.00318	.|.	.|.	.|.	.|.	.|.	T|T	0.34454|0.34454	0.0898|0.0898	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41893|0.41893	-0.9483|-0.9483	4|4	.|.	.|.	.|.	.|.	3.565|3.565	0.07896|0.07896	0.1718:0.4049:0.2187:0.2047|0.1718:0.4049:0.2187:0.2047	.|.	.|.	.|.	.|.	R|Q	568;609|841	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43844599|43844599	0.000000|0.000000	0.05858|0.05858	0.220000|0.220000	0.23810|0.23810	0.008000|0.008000	0.06430|0.06430	-8.453000|-8.453000	0.00020|0.00020	-2.361000|-2.361000	0.00609|0.00609	-2.038000|-2.038000	0.00419|0.00419	GGA|CGG		PASS	0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			105	141	105	141	---	---	---	---
L1TD1	54596	broad.mit.edu	37	1	62672649	62672649	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:62672649G>T	ENST00000498273.1	+	3	644	c.349G>T	c.(349-351)Ggg>Tgg	p.G117W		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	117								p.G117W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						agggatggtagggaaaataga	0.318																																						uc001dae.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(349-351)GGG>TGG		LINE-1 type transposase domain containing 1							68.0	80.0	76.0					1																	62672649		2192	4291	6483	SO:0001583	missense	54596							g.chr1:62672649G>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.349G>T	1.37:g.62672649G>T	ENSP00000419901:p.Gly117Trp						p.G117W	NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN			3	651	+			117					Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.349G>T	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977949	0.34942	.	.	ENSG00000240563	ENST00000498273	T	0.11495	2.77	2.21	2.21	0.28008	.	.	.	.	.	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	1	D	0.60160	0.987	P	0.54174	0.744	T	0.19128	-1.0315	9	0.72032	D	0.01	.	8.0067	0.30329	0.0:0.0:1.0:0.0	.	117	Q5T7N2	LITD1_HUMAN	W	117	ENSP00000419901:G117W	ENSP00000419901:G117W	G	+	1	0	L1TD1	62445237	0.365000	0.25006	0.008000	0.14137	0.059000	0.15707	1.957000	0.40392	1.584000	0.49913	0.313000	0.20887	GGG		PASS	0.318	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		62	97	62	97	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62740445	62740445	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:62740445G>C	ENST00000371153.4	-	3	709	c.331C>G	c.(331-333)Ccg>Gcg	p.P111A	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	111						cytoplasm (GO:0005737)		p.P111A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTACCAAGCGGTGGTGACTGG	0.622																																						uc001dah.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(331-333)CCG>GCG		ankyrin repeat domain 38							44.0	52.0	49.0					1																	62740445		2200	4299	6499	SO:0001583	missense	163782							g.chr1:62740445G>C	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.331C>G	1.37:g.62740445G>C	ENSP00000360195:p.Pro111Ala					KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.P111A	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	708	-			111					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.331C>G	CCDS620.1	.	.	.	.	.	.	.	.	.	.	G	5.214	0.224928	0.09916	.	.	ENSG00000132854	ENST00000371153	T	0.75938	-0.98	4.13	2.18	0.27775	.	0.440626	0.16983	N	0.191636	T	0.69869	0.3159	L	0.56769	1.78	0.41780	D	0.989811	B	0.20887	0.049	B	0.19666	0.026	T	0.65582	-0.6133	10	0.32370	T	0.25	-0.6271	14.5909	0.68365	0.0:0.2784:0.7216:0.0	.	111	Q5T7N3	KANK4_HUMAN	A	111	ENSP00000360195:P111A	ENSP00000360195:P111A	P	-	1	0	KANK4	62513033	0.002000	0.14202	0.002000	0.10522	0.001000	0.01503	0.099000	0.15210	0.658000	0.30925	0.563000	0.77884	CCG		PASS	0.622	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		8	63	8	63	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63018566	63018566	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:63018566C>G	ENST00000340370.5	-	22	2620	c.2603G>C	c.(2602-2604)gGg>gCg	p.G868A	DOCK7_ENST00000251157.5_Missense_Mutation_p.G868A	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	868					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.G868A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCCCAAACCCCCAGGACCTAG	0.388																																						uc001daq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2602-2604)GGG>GCG		dedicator of cytokinesis 7							60.0	59.0	59.0					1																	63018566		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63018566C>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2603G>C	1.37:g.63018566C>G	ENSP00000340742:p.Gly868Ala					DOCK7_uc001dan.2_Missense_Mutation_p.G760A|DOCK7_uc001dao.2_Missense_Mutation_p.G760A|DOCK7_uc001dap.2_Missense_Mutation_p.G868A|DOCK7_uc001dam.2_Missense_Mutation_p.G48A	p.G868A	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			22	2637	-			868					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.2603G>C	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.49|12.49	1.954860|1.954860	0.34471|0.34471	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370|ENST00000454575	T;T|.	0.13538|.	2.58;2.63|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46054|0.46054	0.1373|0.1373	N|N	0.05351|0.05351	-0.065|-0.065	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.33171|.	0.001;0.4;0.206;0.003;0.001|.	B;B;B;B;B|.	0.33960|.	0.005;0.173;0.085;0.006;0.015|.	T|T	0.41378|0.41378	-0.9512|-0.9512	10|5	0.08599|.	T|.	0.76|.	.|.	18.3751|18.3751	0.90433|0.90433	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	868;868;868;868;868|.	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	.;.;.;.;.|.	A|C	868|39	ENSP00000251157:G868A;ENSP00000340742:G868A|.	ENSP00000251157:G868A|.	G|W	-|-	2|3	0|0	DOCK7|DOCK7	62791154|62791154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.539000|7.539000	0.82063|0.82063	2.564000|2.564000	0.86499|0.86499	0.585000|0.585000	0.79938|0.79938	GGG|TGG		PASS	0.388	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		14	25	14	25	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70502271	70502271	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:70502271C>T	ENST00000035383.5	+	18	2168	c.2138C>T	c.(2137-2139)gCt>gTt	p.A713V	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000310961.5_Missense_Mutation_p.A718V	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	713						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.A713V(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGACAACAGCTAAAGATGCA	0.433																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2137-2139)GCT>GTT		leucine rich repeat containing 7							135.0	148.0	144.0					1																	70502271		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70502271C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2138C>T	1.37:g.70502271C>T	ENSP00000035383:p.Ala713Val					LRRC7_uc009wbg.2_Intron|LRRC7_uc001deq.2_5'UTR	p.A713V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			18	2168	+			713					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2138C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057789	0.55325	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.38887	1.11;1.19	5.77	5.77	0.91146	.	0.475464	0.25132	N	0.032896	T	0.27027	0.0662	L	0.47716	1.5	0.80722	D	1	B	0.18741	0.03	B	0.18561	0.022	T	0.02925	-1.1093	10	0.27082	T	0.32	.	19.335	0.94312	0.0:1.0:0.0:0.0	.	713	Q96NW7	LRRC7_HUMAN	V	718;713;536	ENSP00000309245:A718V;ENSP00000035383:A713V	ENSP00000035383:A713V	A	+	2	0	LRRC7	70274859	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.433000	0.52834	2.890000	0.99128	0.650000	0.86243	GCT		PASS	0.433	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		55	108	55	108	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74648482	74648482	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:74648482G>A	ENST00000395089.1	-	2	312	c.313C>T	c.(313-315)Cat>Tat	p.H105Y	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.H105Y|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.H105Y|LRRIQ3_ENST00000370909.2_Intron			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	105								p.H105Y(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CCATTGTCATGAAGATAGAGT	0.308																																						uc001dfy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(313-315)CAT>TAT		leucine-rich repeats and IQ motif containing 3							62.0	61.0	61.0					1																	74648482		2202	4299	6501	SO:0001583	missense	127255							g.chr1:74648482G>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.313C>T	1.37:g.74648482G>A	ENSP00000378524:p.His105Tyr					LRRIQ3_uc001dfz.3_RNA	p.H105Y	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			3	505	-			105			LRR 3.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.313C>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335823	0.81801	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000388972;ENST00000370911	T;T;T	0.09073	3.02;3.02;3.02	5.66	5.66	0.87406	.	0.080328	0.51477	D	0.000084	T	0.18173	0.0436	L	0.55990	1.75	0.39711	D	0.971327	D	0.62365	0.991	D	0.69654	0.965	T	0.00294	-1.1840	10	0.72032	D	0.01	.	18.5184	0.90943	0.0:0.0:1.0:0.0	.	105	A6PVS8	LRIQ3_HUMAN	Y	105	ENSP00000378524:H105Y;ENSP00000346414:H105Y;ENSP00000359948:H105Y	ENSP00000346414:H105Y	H	-	1	0	LRRIQ3	74421070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.906000	0.75719	2.658000	0.90341	0.655000	0.94253	CAT		PASS	0.308	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		21	30	21	30	---	---	---	---
PTGFR	5737	broad.mit.edu	37	1	79002362	79002362	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:79002362C>T	ENST00000370757.3	+	3	1307	c.1070C>T	c.(1069-1071)gCa>gTa	p.A357V	PTGFR_ENST00000370758.1_Missense_Mutation_p.A357V|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	357					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.A357V(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GAGAAATCAGCAAGCACCTAG	0.383																																						uc001din.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|skin(1)	6						c.(1069-1071)GCA>GTA		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						40.0	39.0	39.0					1																	79002362		2203	4298	6501	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002362C>T	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.1070C>T	1.37:g.79002362C>T	ENSP00000359793:p.Ala357Val					PTGFR_uc001dim.2_3'UTR	p.A357V	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1336	+			357			Cytoplasmic (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.1070C>T	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670330	0.29693	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	D;D	0.90004	-2.6;-2.6	5.75	2.87	0.33458	.	2.521890	0.00982	N	0.003384	T	0.64962	0.2646	N	0.08118	0	0.54753	D	0.999985	B	0.15141	0.012	B	0.14023	0.01	T	0.44251	-0.9340	10	0.25751	T	0.34	4.5243	8.1965	0.31400	0.0:0.7331:0.1286:0.1383	.	357	P43088	PF2R_HUMAN	V	357	ENSP00000359794:A357V;ENSP00000359793:A357V	ENSP00000359793:A357V	A	+	2	0	PTGFR	78774950	0.088000	0.21588	0.900000	0.35374	0.678000	0.39670	0.758000	0.26447	0.445000	0.26639	-0.137000	0.14449	GCA		PASS	0.383	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		9	42	9	42	---	---	---	---
GSTM4	2948	broad.mit.edu	37	1	110200278	110200278	+	Missense_Mutation	SNP	C	C	T	rs201193976		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:110200278C>T	ENST00000369836.4	+	4	553	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	GSTM4_ENST00000326729.5_Missense_Mutation_p.R82C|GSTM4_ENST00000495742.1_Intron|GSTM4_ENST00000336075.5_Intron|GSTM4_ENST00000369833.1_Missense_Mutation_p.R41C	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	82	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)	p.R41C(1)|p.R82C(1)		endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CTACATTGCCCGCAAGCACAA	0.567																																						uc001dyf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(244-246)CGC>TGC		glutathione S-transferase mu 4 isoform 1	Glutathione(DB00143)						352.0	267.0	296.0					1																	110200278		2203	4300	6503	SO:0001583	missense	2948				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110200278C>T	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.244C>T	1.37:g.110200278C>T	ENSP00000358851:p.Arg82Cys					GSTM4_uc001dyg.2_Intron|GSTM4_uc009wfj.2_Intron|GSTM4_uc001dyh.2_Missense_Mutation_p.R82C|GSTM2_uc001dyi.2_Intron	p.R82C	NM_000850	NP_000841	Q03013	GSTM4_HUMAN		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	4	558	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	82			GST N-terminal.		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Missense_Mutation	SNP	ENST00000369836.4	37	c.244C>T	CCDS807.1	.	.	.	.	.	.	.	.	.	.	c	22.0	4.225723	0.79576	.	.	ENSG00000168765	ENST00000369836;ENST00000326729;ENST00000369833	T;T;T	0.08896	3.04;3.04;3.04	4.35	4.35	0.52113	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.37945	0.1022	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.953	T	0.62086	-0.6928	10	0.87932	D	0	-3.66	14.1932	0.65652	0.0:1.0:0.0:0.0	.	82;82	Q03013-2;Q03013	.;GSTM4_HUMAN	C	82;82;41	ENSP00000358851:R82C;ENSP00000316471:R82C;ENSP00000358848:R41C	ENSP00000316471:R82C	R	+	1	0	GSTM4	110001801	0.970000	0.33590	1.000000	0.80357	0.985000	0.73830	2.306000	0.43673	2.147000	0.66899	0.556000	0.70494	CGC		PASS	0.567	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850		52	207	52	207	---	---	---	---
DCLRE1B	64858	broad.mit.edu	37	1	114454011	114454011	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:114454011C>T	ENST00000369563.3	+	4	1243	c.797C>T	c.(796-798)cCt>cTt	p.P266L	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	266					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)	p.P266L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTCCCACCCTGATATCCAC	0.527								Other identified genes with known or suspected DNA repair function																														uc001eeg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)CCT>CTT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1B (PSO2 homolog, S.							184.0	151.0	163.0					1																	114454011		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454011C>T	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.797C>T	1.37:g.114454011C>T	ENSP00000358576:p.Pro266Leu					DCLRE1B_uc001eeh.2_Missense_Mutation_p.P140L|DCLRE1B_uc001eei.2_Missense_Mutation_p.P140L	p.P266L	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	968	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	266					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.797C>T	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469035	0.63625	.	.	ENSG00000118655	ENST00000369563	T	0.75154	-0.91	5.88	5.88	0.94601	DNA repair metallo-beta-lactamase (1);	0.102507	0.64402	D	0.000002	T	0.77624	0.4158	L	0.42245	1.32	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.77576	-0.2536	10	0.49607	T	0.09	-6.116	15.011	0.71550	0.1423:0.8577:0.0:0.0	.	266	Q9H816	DCR1B_HUMAN	L	266	ENSP00000358576:P266L	ENSP00000358576:P266L	P	+	2	0	DCLRE1B	114255534	0.999000	0.42202	0.878000	0.34440	0.225000	0.24961	4.370000	0.59517	2.797000	0.96272	0.561000	0.74099	CCT		PASS	0.527	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		61	67	61	67	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146765333	146765333	+	Silent	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:146765333C>G	ENST00000369258.4	+	21	2453	c.2433C>G	c.(2431-2433)gtC>gtG	p.V811V	CHD1L_ENST00000361293.5_Silent_p.V530V|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Silent_p.V717V|CHD1L_ENST00000369259.3_Silent_p.V607V	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	811	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.V811V(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GTTCCAATGTCCTGTCTGGCA	0.463																																						uc001epm.3																			2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.(2431-2433)GTC>GTG		chromodomain helicase DNA binding protein							189.0	183.0	185.0					1																	146765333		2203	4300	6503	SO:0001819	synonymous_variant	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146765333C>G	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2433C>G	1.37:g.146765333C>G						uc001epp.2_Intron|CHD1L_uc001epn.3_Silent_p.V698V|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Silent_p.V717V|CHD1L_uc010ozp.1_Silent_p.V530V|CHD1L_uc001epo.3_Silent_p.V607V|CHD1L_uc009wji.2_Silent_p.V530V	p.V811V	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			21	2496	+	all_hematologic(923;0.0487)		811			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	c.2433C>G	CCDS927.1																																																																																				PASS	0.463	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		20	329	20	329	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187683	152187683	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:152187683C>T	ENST00000368801.2	-	3	6497	c.6422G>A	c.(6421-6423)gGa>gAa	p.G2141E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2141					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G2141E(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGACTGTCCTGATCTAGA	0.587																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(6421-6423)GGA>GAA		hornerin							196.0	219.0	211.0					1																	152187683		1587	3259	4846	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187683C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6422G>A	1.37:g.152187683C>T	ENSP00000357791:p.Gly2141Glu						p.G2141E	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6498	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2141					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6422G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	10.12	1.262235	0.23051	.	.	ENSG00000197915	ENST00000368801	T	0.13657	2.57	3.66	3.66	0.41972	.	.	.	.	.	T	0.15262	0.0368	L	0.53249	1.67	0.09310	N	0.999998	D	0.76494	0.999	D	0.74674	0.984	T	0.08973	-1.0696	9	0.12766	T	0.61	.	13.2759	0.60188	0.0:1.0:0.0:0.0	.	2141	Q86YZ3	HORN_HUMAN	E	2141	ENSP00000357791:G2141E	ENSP00000357791:G2141E	G	-	2	0	HRNR	150454307	0.030000	0.19436	0.031000	0.17742	0.006000	0.05464	3.890000	0.56220	2.050000	0.60909	0.603000	0.83216	GGA		PASS	0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		24	744	24	744	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152277980	152277980	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:152277980G>T	ENST00000368799.1	-	3	9417	c.9382C>A	c.(9382-9384)Cat>Aat	p.H3128N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3128	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H3128N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTACCGAATGCTCGTGGTGG	0.592									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9382-9384)CAT>AAT		filaggrin							74.0	99.0	91.0					1																	152277980		2196	4289	6485	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277980G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9382C>A	1.37:g.152277980G>T	ENSP00000357789:p.His3128Asn						p.H3128N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9418	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3128			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9382C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	3.928	-0.016699	0.07681	.	.	ENSG00000143631	ENST00000368799	T	0.04015	3.73	2.36	2.36	0.29203	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.19391	0.025	T	0.47394	-0.9121	9	0.15499	T	0.54	.	8.3755	0.32440	0.0:0.0:1.0:0.0	.	3128	P20930	FILA_HUMAN	N	3128	ENSP00000357789:H3128N	ENSP00000357789:H3128N	H	-	1	0	FLG	150544604	0.001000	0.12720	0.068000	0.19968	0.005000	0.04900	0.968000	0.29357	1.621000	0.50320	0.449000	0.29647	CAT		PASS	0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		106	317	106	317	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152278956	152278956	+	Missense_Mutation	SNP	G	G	C	rs137870179	byFrequency	TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:152278956G>C	ENST00000368799.1	-	3	8441	c.8406C>G	c.(8404-8406)caC>caG	p.H2802Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2802	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H2802Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGAATGCTCGTGGTGGTACC	0.597									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8404-8406)CAC>CAG		filaggrin							171.0	241.0	217.0					1																	152278956		2200	4297	6497	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278956G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8406C>G	1.37:g.152278956G>C	ENSP00000357789:p.His2802Gln						p.H2802Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8442	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2802			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8406C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243448	0.22796	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00949	5.51	4.47	-6.73	0.01749	.	.	.	.	.	T	0.00356	0.0011	M	0.72894	2.215	0.09310	N	1	P	0.37985	0.613	B	0.31812	0.136	T	0.36601	-0.9741	9	0.59425	D	0.04	-7.6506	1.8899	0.03246	0.3205:0.2961:0.2745:0.1089	.	2802	P20930	FILA_HUMAN	Q	2802;64	ENSP00000357789:H2802Q	ENSP00000357786:H64Q	H	-	3	2	FLG	150545580	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-3.661000	0.00400	-1.209000	0.02631	-1.206000	0.01644	CAC		PASS	0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		85	492	85	492	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152284451	152284451	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:152284451G>A	ENST00000368799.1	-	3	2946	c.2911C>T	c.(2911-2913)Cgt>Tgt	p.R971C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	971	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R971C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGATCCACGATGGTTTCTG	0.577									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2911-2913)CGT>TGT		filaggrin							236.0	238.0	237.0					1																	152284451		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284451G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2911C>T	1.37:g.152284451G>A	ENSP00000357789:p.Arg971Cys					uc001ezv.2_5'Flank	p.R971C	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2947	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		971			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2911C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	3.832	-0.035516	0.07497	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01745	4.66	2.68	1.75	0.24633	.	.	.	.	.	T	0.00637	0.0021	L	0.44542	1.39	0.09310	N	1	D	0.54047	0.964	B	0.38106	0.265	T	0.52177	-0.8610	9	0.54805	T	0.06	.	5.8935	0.18927	0.1553:0.0:0.8447:0.0	.	971	P20930	FILA_HUMAN	C	971;178	ENSP00000357789:R971C	ENSP00000357789:R971C	R	-	1	0	FLG	150551075	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.278000	0.08490	0.495000	0.27882	-0.379000	0.06801	CGT		PASS	0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		19	578	19	578	---	---	---	---
NES	10763	broad.mit.edu	37	1	156640164	156640164	+	Silent	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:156640164G>T	ENST00000368223.3	-	4	3948	c.3816C>A	c.(3814-3816)ccC>ccA	p.P1272P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1272	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.P1272P(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)					GGGGGCCCTCGGGGATCTCCC	0.642																																						uc001fpq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(3814-3816)CCC>CCA		nestin							75.0	88.0	83.0					1																	156640164		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:156640164G>T	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.3816C>A	1.37:g.156640164G>T							p.P1272P	NM_006617	NP_006608	P48681	NEST_HUMAN			4	3949	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1272			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.3816C>A	CCDS1151.1																																																																																				PASS	0.642	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		76	142	76	142	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576908	158576908	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:158576908G>T	ENST00000361284.1	+	1	680	c.680G>T	c.(679-681)aGg>aTg	p.R227M		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R227M(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCAATACTGAGGATCCCCTCT	0.507																																						uc010pio.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(679-681)AGG>ATG		olfactory receptor, family 10, subfamily Z,							155.0	151.0	152.0					1																	158576908		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576908G>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.680G>T	1.37:g.158576908G>T	ENSP00000354707:p.Arg227Met						p.R227M	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	680	+	all_hematologic(112;0.0378)		227			Cytoplasmic (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.680G>T	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	8.916	0.959936	0.18507	.	.	ENSG00000198967	ENST00000361284	T	0.00265	8.39	5.25	-3.01	0.05463	GPCR, rhodopsin-like superfamily (1);	1.087620	0.07254	N	0.866420	T	0.00241	0.0007	M	0.86864	2.845	0.09310	N	1	D	0.55800	0.973	P	0.62885	0.908	T	0.12915	-1.0529	10	0.72032	D	0.01	.	12.8005	0.57584	0.5787:0.0:0.4213:0.0	.	227	Q8NGY1	O10Z1_HUMAN	M	227	ENSP00000354707:R227M	ENSP00000354707:R227M	R	+	2	0	OR10Z1	156843532	0.000000	0.05858	0.016000	0.15963	0.109000	0.19521	-0.948000	0.03897	-0.818000	0.04329	-1.735000	0.00691	AGG		PASS	0.507	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		111	180	111	180	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158590127	158590127	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:158590127C>A	ENST00000368147.4	-	44	6430	c.6250G>T	c.(6250-6252)Gac>Tac	p.D2084Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2084					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D2084Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCTCATGGTCTTTCTGCAGC	0.488																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6250-6252)GAC>TAC		spectrin, alpha, erythrocytic 1							84.0	79.0	81.0					1																	158590127		1932	4137	6069	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158590127C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6250G>T	1.37:g.158590127C>A	ENSP00000357129:p.Asp2084Tyr						p.D2084Y	NM_003126	NP_003117	P02549	SPTA1_HUMAN			44	6449	-	all_hematologic(112;0.0378)		2084			Spectrin 20.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6250G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890176	0.72524	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.69561	-0.41;-0.41	5.05	5.05	0.67936	.	0.249770	0.20820	N	0.085093	T	0.69842	0.3156	L	0.60455	1.87	0.45097	D	0.998119	P	0.44659	0.84	P	0.54026	0.74	T	0.71951	-0.4437	10	0.59425	D	0.04	.	17.1417	0.86755	0.0:1.0:0.0:0.0	.	2084	P02549	SPTA1_HUMAN	Y	2084;2081	ENSP00000357130:D2084Y;ENSP00000357129:D2081Y	ENSP00000357129:D2081Y	D	-	1	0	SPTA1	156856751	1.000000	0.71417	0.997000	0.53966	0.651000	0.38670	7.111000	0.77077	2.623000	0.88846	0.585000	0.79938	GAC		PASS	0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		27	59	27	59	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179452290	179452290	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:179452290G>T	ENST00000367618.3	+	18	2412	c.2025G>T	c.(2023-2025)atG>atT	p.M675I	AXDND1_ENST00000457238.2_3'UTR|AL160286.1_ENST00000600581.1_Intron	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	675								p.M675I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TATTTAACATGATTCAACAAT	0.328																																						uc001gmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2023-2025)ATG>ATT		hypothetical protein LOC126859 isoform 1							136.0	134.0	135.0					1																	179452290		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179452290G>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2025G>T	1.37:g.179452290G>T	ENSP00000356590:p.Met675Ile					C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.M675I	p.M675I	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			18	2152	+			675					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2025G>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616091	0.46631	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.21361	2.01;2.01	5.03	5.03	0.67393	.	0.197464	0.43919	D	0.000513	T	0.19525	0.0469	L	0.54323	1.7	0.80722	D	1	B;B	0.30914	0.3;0.3	B;B	0.23716	0.048;0.048	T	0.03463	-1.1034	10	0.20519	T	0.43	-2.5566	13.8783	0.63667	0.0:0.0:1.0:0.0	.	633;675	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	I	675;633;609	ENSP00000356590:M675I;ENSP00000391716:M609I	ENSP00000353471:M633I	M	+	3	0	AXDND1	177718913	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.277000	0.58939	2.338000	0.79540	0.655000	0.94253	ATG		PASS	0.328	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		27	55	27	55	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180013242	180013242	+	Missense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:180013242A>T	ENST00000367607.3	+	21	4974	c.4556A>T	c.(4555-4557)cAt>cTt	p.H1519L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1519	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.H1519L(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GACTCAAAGCATCAGAAGTAT	0.333																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(4555-4557)CAT>CTT		centrosome-associated protein 350							54.0	49.0	50.0					1																	180013242		2199	4293	6492	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180013242A>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4556A>T	1.37:g.180013242A>T	ENSP00000356579:p.His1519Leu					CEP350_uc009wxl.2_Missense_Mutation_p.H1518L	p.H1519L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			21	4939	+			1519			Ser-rich.		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.4556A>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.647592	0.29246	.	.	ENSG00000135837	ENST00000367607	T	0.55588	0.51	5.69	3.4	0.38934	.	0.715189	0.11989	N	0.510006	T	0.32526	0.0832	N	0.19112	0.55	0.24776	N	0.992844	B;B	0.31125	0.156;0.309	B;B	0.21917	0.037;0.037	T	0.12734	-1.0536	9	.	.	.	.	8.0259	0.30436	0.8366:0.0:0.1634:0.0	.	1519;1519	E7EU22;Q5VT06	.;CE350_HUMAN	L	1519	ENSP00000356579:H1519L	.	H	+	2	0	CEP350	178279865	1.000000	0.71417	0.882000	0.34594	0.628000	0.37860	1.548000	0.36201	0.455000	0.26910	0.454000	0.30748	CAT		PASS	0.333	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		7	5	7	5	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186270769	186270769	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:186270769G>A	ENST00000445192.2	+	4	290	c.245G>A	c.(244-246)aGg>aAg	p.R82K	PRG4_ENST00000367486.3_Missense_Mutation_p.R82K|PRG4_ENST00000367483.4_Missense_Mutation_p.R41K|PRG4_ENST00000367485.4_Missense_Mutation_p.R82K|PRG4_ENST00000367484.3_Missense_Mutation_p.R41K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	82	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R82K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGAGAGGGAGGGAGTGTGAC	0.488																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(244-246)AGG>AAG		proteoglycan 4 isoform A							173.0	151.0	158.0					1																	186270769		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186270769G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.245G>A	1.37:g.186270769G>A	ENSP00000399679:p.Arg82Lys					PRG4_uc001grt.3_Missense_Mutation_p.R41K|PRG4_uc009wyl.2_Missense_Mutation_p.R82K|PRG4_uc009wym.2_Missense_Mutation_p.R41K|PRG4_uc010poo.1_RNA	p.R82K	NM_005807	NP_005798	Q92954	PRG4_HUMAN			4	296	+			82			SMB 2.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.245G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729396	0.48833	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.62	5.62	0.85841	Somatomedin B domain (3);Somatomedin B, chordata (1);	0.000000	0.50627	D	0.000113	T	0.42630	0.1211	L	0.39085	1.19	0.21355	N	0.999716	P;P;P;P	0.47034	0.865;0.865;0.889;0.865	P;P;P;P	0.53861	0.618;0.618;0.736;0.618	T	0.28650	-1.0037	10	0.16896	T	0.51	-13.9847	10.1524	0.42803	0.1473:0.0:0.8527:0.0	.	41;82;82;41	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	K	82;41;41;41;41;82;82	ENSP00000356456:R82K;ENSP00000356454:R41K;ENSP00000431330:R41K;ENSP00000356452:R41K;ENSP00000356453:R41K;ENSP00000356455:R82K;ENSP00000399679:R82K	ENSP00000356452:R41K	R	+	2	0	PRG4	184537392	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.955000	0.56715	2.639000	0.89480	0.585000	0.79938	AGG		PASS	0.488	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	84	8	84	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197298053	197298053	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:197298053C>T	ENST00000367400.3	+	2	707	c.572C>T	c.(571-573)gCt>gTt	p.A191V	CRB1_ENST00000538660.1_Missense_Mutation_p.A191V|CRB1_ENST00000367399.2_Missense_Mutation_p.A191V|CRB1_ENST00000535699.1_Missense_Mutation_p.A122V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	191	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A191V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GATGAATGTGCTTCAGATCCC	0.458																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(571-573)GCT>GTT		crumbs homolog 1 precursor							77.0	65.0	69.0					1																	197298053		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197298053C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.572C>T	1.37:g.197298053C>T	ENSP00000356370:p.Ala191Val					CRB1_uc010poz.1_Missense_Mutation_p.A122V|CRB1_uc001gty.1_Missense_Mutation_p.A191V|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A191V|CRB1_uc010ppb.1_Missense_Mutation_p.A191V	p.A191V	NM_201253	NP_957705	P82279	CRUM1_HUMAN			2	707	+			191			Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.572C>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	5.197	0.221831	0.09863	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	D;D;D;D	0.95171	-2.91;-2.91;-2.91;-3.63	5.32	-4.38	0.03622	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.88145	0.6358	N	0.21282	0.65	0.80722	D	1	B;B;B;B;B	0.26902	0.001;0.0;0.163;0.001;0.002	B;B;B;B;B	0.29440	0.004;0.002;0.102;0.005;0.007	T	0.67650	-0.5616	9	0.28530	T	0.3	.	14.2959	0.66314	0.0:0.4926:0.0:0.5074	.	191;122;191;191;216	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	V	122;191;191;191	ENSP00000438786:A122V;ENSP00000438091:A191V;ENSP00000356370:A191V;ENSP00000356369:A191V	ENSP00000356369:A191V	A	+	2	0	CRB1	195564676	0.007000	0.16637	0.033000	0.17914	0.040000	0.13550	-0.188000	0.09642	-1.088000	0.03077	-0.768000	0.03414	GCT		PASS	0.458	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		19	30	19	30	---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203192314	203192314	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:203192314G>T	ENST00000367229.1	-	6	588	c.554C>A	c.(553-555)cCa>cAa	p.P185Q	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.P176Q|CHIT1_ENST00000255427.3_Missense_Mutation_p.P166Q	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	185					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.P185Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGCCCAGCTGGAACCGCTGC	0.572																																						uc001gzn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)CCA>CAA		chitotriosidase precursor							138.0	128.0	132.0					1																	203192314		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192314G>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.554C>A	1.37:g.203192314G>T	ENSP00000356198:p.Pro185Gln					FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_5'UTR|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.P176Q	p.P185Q	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			6	650	-			185					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.554C>A	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990196	0.74589	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.08370	3.1;3.1;3.1	4.62	4.62	0.57501	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.776668	0.11303	N	0.578032	T	0.39200	0.1069	M	0.92412	3.305	0.22666	N	0.998871	D;D	0.63046	0.992;0.989	P;D	0.68353	0.847;0.957	T	0.33214	-0.9877	10	0.72032	D	0.01	-6.1445	15.3339	0.74234	0.0:0.0:1.0:0.0	.	176;185	G5EA51;Q13231	.;CHIT1_HUMAN	Q	185;166;176	ENSP00000356198:P185Q;ENSP00000255427:P166Q;ENSP00000438078:P176Q	ENSP00000255427:P166Q	P	-	2	0	CHIT1	201458937	0.996000	0.38824	0.005000	0.12908	0.005000	0.04900	8.564000	0.90726	2.235000	0.73313	0.655000	0.94253	CCA		PASS	0.572	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		48	96	48	96	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207646467	207646467	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:207646467C>G	ENST00000367058.3	+	10	2110	c.1921C>G	c.(1921-1923)Cag>Gag	p.Q641E	CR2_ENST00000367057.3_Missense_Mutation_p.Q641E|CR2_ENST00000458541.2_Missense_Mutation_p.Q614E|CR2_ENST00000367059.3_Missense_Mutation_p.Q641E	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	641	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.Q641E(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGGCAGTAGTCAGATTCGTTG	0.383																																						uc001hfw.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1921-1923)CAG>GAG		complement component (3d/Epstein Barr virus)							91.0	90.0	91.0					1																	207646467		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207646467C>G	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1921C>G	1.37:g.207646467C>G	ENSP00000356025:p.Gln641Glu					CR2_uc001hfv.2_Missense_Mutation_p.Q641E|CR2_uc009xch.2_Missense_Mutation_p.Q641E|CR2_uc009xci.1_Missense_Mutation_p.Q126E	p.Q641E	NM_001877	NP_001868	P20023	CR2_HUMAN			10	2015	+			641			Sushi 10.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.1921C>G	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	6.826	0.521579	0.13005	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.77	1.63	0.23807	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.42404	0.1201	N	0.20685	0.6	0.27618	N	0.948452	B;B;B;B	0.19331	0.035;0.035;0.028;0.028	B;B;B;B	0.31245	0.05;0.074;0.126;0.03	T	0.35968	-0.9767	9	0.02654	T	1	.	8.6065	0.33775	0.2871:0.435:0.2779:0.0	.	641;641;641;641	C9JHD2;Q5SR47;P20023;P20023-3	.;.;CR2_HUMAN;.	E	641;641;641;614	ENSP00000356025:Q641E;ENSP00000356024:Q641E;ENSP00000356026:Q641E;ENSP00000404222:Q614E	ENSP00000356024:Q641E	Q	+	1	0	CR2	205713090	0.000000	0.05858	0.523000	0.27875	0.990000	0.78478	-0.815000	0.04481	0.043000	0.15746	-0.182000	0.12963	CAG		PASS	0.383	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		33	69	33	69	---	---	---	---
CAMK1G	57172	broad.mit.edu	37	1	209768392	209768392	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:209768392A>G	ENST00000009105.1	+	2	309	c.64A>G	c.(64-66)Acc>Gcc	p.T22A	CAMK1G_ENST00000361322.2_Missense_Mutation_p.T22A			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	22						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.T22A(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CATCCGGAAAACCTTCATTTT	0.512																																					Ovarian(163;530 1939 9680 28669 48710)	uc001hhd.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(64-66)ACC>GCC		calcium/calmodulin-dependent protein kinase IG							91.0	90.0	91.0					1																	209768392		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209768392A>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.64A>G	1.37:g.209768392A>G	ENSP00000009105:p.Thr22Ala					CAMK1G_uc001hhf.3_Missense_Mutation_p.T22A|CAMK1G_uc001hhe.2_Missense_Mutation_p.T22A	p.T22A	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	2	166	+			22					Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.64A>G	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225385	0.39300	.	.	ENSG00000008118	ENST00000009105;ENST00000423146;ENST00000361322	T;T;T	0.39056	1.1;1.87;1.1	5.31	5.31	0.75309	Protein kinase-like domain (1);	0.000000	0.51477	D	0.000098	T	0.23572	0.0570	N	0.10972	0.075	0.43652	D	0.996066	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.004	T	0.09335	-1.0679	10	0.07813	T	0.8	.	14.9333	0.70933	1.0:0.0:0.0:0.0	.	22;22	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	A	22	ENSP00000009105:T22A;ENSP00000392173:T22A;ENSP00000354861:T22A	ENSP00000009105:T22A	T	+	1	0	CAMK1G	207835015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.295000	0.51794	1.997000	0.58415	0.533000	0.62120	ACC		PASS	0.512	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		4	84	4	84	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	211192568	211192568	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:211192568G>T	ENST00000271751.4	-	6	616	c.589C>A	c.(589-591)Cag>Aag	p.Q197K	KCNH1_ENST00000367007.4_Missense_Mutation_p.Q197K			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	197					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.Q197K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGCTTGTACTGGGGAAGGATG	0.428																																						uc001hib.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(589-591)CAG>AAG		potassium voltage-gated channel, subfamily H,							61.0	65.0	64.0					1																	211192568		2203	4298	6501	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192568G>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.589C>A	1.37:g.211192568G>T	ENSP00000271751:p.Gln197Lys					KCNH1_uc001hic.2_Missense_Mutation_p.Q197K	p.Q197K	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	759	-			197			Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.589C>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933532	0.52866	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98889	-5.14;-5.21	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.96608	0.8893	L	0.41824	1.3	0.80722	D	1	P;P	0.41041	0.736;0.671	B;B	0.36464	0.2;0.225	D	0.96931	0.9681	10	0.45353	T	0.12	.	17.2719	0.87104	0.0:0.0:1.0:0.0	.	197;197	Q14CL3;O95259	.;KCNH1_HUMAN	K	197	ENSP00000271751:Q197K;ENSP00000355974:Q197K	ENSP00000271751:Q197K	Q	-	1	0	KCNH1	209259191	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.427000	0.97472	2.326000	0.78906	0.462000	0.41574	CAG		PASS	0.428	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		33	81	33	81	---	---	---	---
IBA57	200205	broad.mit.edu	37	1	228362694	228362694	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:228362694G>T	ENST00000366711.3	+	2	645	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	IBA57_ENST00000546123.1_Missense_Mutation_p.D22Y|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	215					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)	p.D215Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCGGCTCGGGGACTTGTGGGA	0.657																																						uc001hsl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(643-645)GAC>TAC		hypothetical protein LOC200205 precursor							19.0	24.0	23.0					1																	228362694		2200	4295	6495	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362694G>T	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.643G>T	1.37:g.228362694G>T	ENSP00000355672:p.Asp215Tyr					C1orf69_uc010pvw.1_Missense_Mutation_p.D22Y	p.D215Y	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			2	732	+		Prostate(94;0.0405)	215						Missense_Mutation	SNP	ENST00000366711.3	37	c.643G>T	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027325	0.54683	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.75477	-0.94;0.82	4.89	0.684	0.18003	Glycine cleavage T-protein, N-terminal (1);	0.324867	0.36628	N	0.002489	D	0.82609	0.5074	M	0.88377	2.95	0.09310	N	1	P	0.50819	0.939	P	0.59221	0.854	T	0.72301	-0.4334	10	0.87932	D	0	-21.5536	6.4596	0.21948	0.2203:0.3838:0.3959:0.0	.	215	Q5T440	CAF17_HUMAN	Y	215;22	ENSP00000355672:D215Y;ENSP00000437347:D22Y	ENSP00000355672:D215Y	D	+	1	0	IBA57	226429317	0.014000	0.17966	0.025000	0.17156	0.027000	0.11550	0.917000	0.28665	0.641000	0.30601	-0.165000	0.13383	GAC		PASS	0.657	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		9	24	9	24	---	---	---	---
TRIM11	81559	broad.mit.edu	37	1	228584678	228584678	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:228584678C>A	ENST00000284551.6	-	5	1107	c.829G>T	c.(829-831)Gga>Tga	p.G277*	TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Nonsense_Mutation_p.G152*|TRIM11_ENST00000366699.3_Nonsense_Mutation_p.G277*	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	277	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G277*(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TCTACCAGTCCCGGGACCCTG	0.637																																						uc001hss.2																			2	Substitution - Nonsense(2)	p.G277*(1)	lung(2)	lung(3)|ovary(1)	4						c.(829-831)GGA>TGA		tripartite motif-containing 11							84.0	83.0	84.0					1																	228584678		2203	4300	6503	SO:0001587	stop_gained	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228584678C>A	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.829G>T	1.37:g.228584678C>A	ENSP00000284551:p.Gly277*					TRIM11_uc010pvx.1_Nonsense_Mutation_p.G276*|TRIM11_uc001hst.1_Nonsense_Mutation_p.G277*	p.G277*	NM_145214	NP_660215	Q96F44	TRI11_HUMAN			5	1084	-		Prostate(94;0.0724)	277			B30.2/SPRY.		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Nonsense_Mutation	SNP	ENST00000284551.6	37	c.829G>T	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	C	37	6.149350	0.97324	.	.	ENSG00000154370	ENST00000284551;ENST00000366699	.	.	.	4.97	4.97	0.65823	.	0.000000	0.41001	D	0.000970	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.103	0.65070	0.0:1.0:0.0:0.0	.	.	.	.	X	277	.	ENSP00000284551:G277X	G	-	1	0	TRIM11	226651301	0.029000	0.19370	0.860000	0.33809	0.571000	0.35966	2.232000	0.43018	2.482000	0.83794	0.313000	0.20887	GGA		PASS	0.637	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		18	29	18	29	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237919649	237919649	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:237919649C>A	ENST00000366574.2	+	81	11524	c.11207C>A	c.(11206-11208)gCg>gAg	p.A3736E	RYR2_ENST00000360064.6_Missense_Mutation_p.A3742E|RYR2_ENST00000542537.1_Missense_Mutation_p.A3720E|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3736					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A3734E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATCGTGGCGCGGCTGAGATG	0.478																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11206-11208)GCG>GAG		cardiac muscle ryanodine receptor							92.0	96.0	95.0					1																	237919649		1957	4161	6118	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237919649C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11207C>A	1.37:g.237919649C>A	ENSP00000355533:p.Ala3736Glu					RYR2_uc010pya.1_Missense_Mutation_p.A151E	p.A3736E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		81	11327	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3736					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11207C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476706	0.44044	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.94138	-3.36;-3.36;-3.36	5.6	5.6	0.85130	.	0.000000	0.64402	U	0.000014	D	0.96876	0.8980	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97038	0.9755	10	0.87932	D	0	.	18.9634	0.92685	0.0:1.0:0.0:0.0	.	710;3736	B4DGV4;Q92736	.;RYR2_HUMAN	E	3736;3742;3720;710	ENSP00000355533:A3736E;ENSP00000353174:A3742E;ENSP00000443798:A3720E	ENSP00000353174:A3742E	A	+	2	0	RYR2	235986272	1.000000	0.71417	0.232000	0.24009	0.040000	0.13550	7.776000	0.85560	2.793000	0.96121	0.563000	0.77884	GCG		PASS	0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	39	18	39	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240255947	240255947	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:240255947G>T	ENST00000319653.9	+	1	768	c.538G>T	c.(538-540)Gac>Tac	p.D180Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	180					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.D323Y(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCGGGCTCGGACACGGACAT	0.632																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(538-540)GAC>TAC		formin 2							69.0	69.0	69.0					1																	240255947		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255947G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.538G>T	1.37:g.240255947G>T	ENSP00000318884:p.Asp180Tyr					FMN2_uc010pye.1_Missense_Mutation_p.D180Y	p.D180Y	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	763	+	Ovarian(103;0.127)	all_cancers(173;0.013)	180					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.538G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579132	0.46006	.	.	ENSG00000155816	ENST00000319653	T	0.68025	-0.3	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000007	T	0.80025	0.4548	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.83086	-0.0135	10	0.87932	D	0	.	17.232	0.86987	0.0:0.0:1.0:0.0	.	180	Q9NZ56	FMN2_HUMAN	Y	180	ENSP00000318884:D180Y	ENSP00000318884:D180Y	D	+	1	0	FMN2	238322570	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.830000	0.92063	2.125000	0.65367	0.313000	0.20887	GAC		PASS	0.632	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		12	48	12	48	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241964483	241964483	+	Missense_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:241964483T>A	ENST00000366552.2	+	27	3419	c.3212T>A	c.(3211-3213)cTg>cAg	p.L1071Q	WDR64_ENST00000437684.2_Missense_Mutation_p.L904Q	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1071								p.L624Q(1)|p.L1071Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAAATAAATCTGGCTTCTTCC	0.383																																						uc001hzf.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1870-1872)CTG>CAG		WD repeat domain 64							82.0	87.0	85.0					1																	241964483		2203	4299	6502	SO:0001583	missense	128025							g.chr1:241964483T>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3212T>A	1.37:g.241964483T>A	ENSP00000355510:p.Leu1071Gln					WDR64_uc001hzg.1_Missense_Mutation_p.L537Q	p.L624Q	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		17	2024	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	1071					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1871T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.82|17.82	3.483179|3.483179	0.63962|0.63962	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.59083|.	0.59;0.29;0.32|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.46442|.	D|.	0.000298|.	T|T	0.54870|0.54870	0.1885|0.1885	M|M	0.63428|0.63428	1.95|1.95	0.28263|0.28263	N|N	0.924758|0.924758	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.85130|.	0.972;0.997|.	T|T	0.53158|0.53158	-0.8478|-0.8478	10|5	0.87932|.	D|.	0|.	-7.5703|-7.5703	11.7701|11.7701	0.51953|0.51953	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1071;624|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	Q|R	1071;904;675|550	ENSP00000355510:L1071Q;ENSP00000402446:L904Q;ENSP00000406656:L675Q|.	ENSP00000355510:L1071Q|.	L|W	+|+	2|1	0|0	WDR64|WDR64	240031106|240031106	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.707000|0.707000	0.40811|0.40811	3.451000|3.451000	0.52964|0.52964	2.087000|2.087000	0.62958|0.62958	0.528000|0.528000	0.53228|0.53228	CTG|TGG		PASS	0.383	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		30	103	30	103	---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243329005	243329005	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:243329005G>T	ENST00000366542.1	-	13	2308	c.2257C>A	c.(2257-2259)Caa>Aaa	p.Q753K	RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.Q655K|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.Q655K	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	753						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.Q753K(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TCCTCCCTTTGTTCTTGTTGT	0.383																																						uc001hzs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(2257-2259)CAA>AAA		centrosomal protein 170kDa isoform alpha							227.0	220.0	222.0					1																	243329005		1866	4092	5958	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243329005G>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2257C>A	1.37:g.243329005G>T	ENSP00000355500:p.Gln753Lys					CEP170_uc001hzt.2_Missense_Mutation_p.Q655K|CEP170_uc001hzu.2_Missense_Mutation_p.Q655K|CEP170_uc001hzv.1_Missense_Mutation_p.Q131K	p.Q753K	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	2665	-	all_neural(11;0.101)	all_cancers(173;0.003)	753					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.2257C>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.895|6.895	0.534576|0.534576	0.13188|0.13188	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543	.|T;T;T	.|0.42513	.|0.99;0.97;0.97	4.72|4.72	2.85|2.85	0.33270|0.33270	.|.	.|0.526109	.|0.19911	.|N	.|0.103297	T|T	0.25644|0.25644	0.0624|0.0624	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.29253	.|0.239;0.225;0.023;0.011	.|B;B;B;B	.|0.33620	.|0.167;0.047;0.009;0.008	T|T	0.03852|0.03852	-1.0998|-1.0998	5|9	.|.	.|.	.|.	-0.5402|-0.5402	6.6258|6.6258	0.22828|0.22828	0.16:0.0:0.696:0.1441|0.16:0.0:0.696:0.1441	.|.	.|716;655;655;753	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	K|K	716|753;655;655	.|ENSP00000355500:Q753K;ENSP00000355502:Q655K;ENSP00000355501:Q655K	.|.	N|Q	-|-	3|1	2|0	CEP170|CEP170	241395628|241395628	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.945000|0.945000	0.59286|0.59286	2.513000|2.513000	0.45494|0.45494	0.600000|0.600000	0.29862|0.29862	0.484000|0.484000	0.47621|0.47621	AAC|CAA		PASS	0.383	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		16	226	16	226	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248039277	248039277	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:248039277G>C	ENST00000366481.3	+	6	995	c.947G>C	c.(946-948)gGa>gCa	p.G316A	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	316	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G316A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGCAGGATGGAGAACCATGG	0.587																																						uc001ido.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(946-948)GGA>GCA		tripartite motif-containing 58							99.0	90.0	93.0					1																	248039277		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039277G>C	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.947G>C	1.37:g.248039277G>C	ENSP00000355437:p.Gly316Ala					OR2W3_uc001idp.1_5'UTR	p.G316A	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	995	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	316			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.947G>C	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	8.010	0.757335	0.15846	.	.	ENSG00000162722	ENST00000366481	T	0.18502	2.21	3.82	1.89	0.25635	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.111591	0.40385	N	0.001110	T	0.12135	0.0295	L	0.43757	1.38	0.80722	D	1	P	0.52463	0.953	P	0.45506	0.483	T	0.28267	-1.0049	10	0.02654	T	1	.	6.9052	0.24305	0.1048:0.1875:0.7078:0.0	.	316	Q8NG06	TRI58_HUMAN	A	316	ENSP00000355437:G316A	ENSP00000355437:G316A	G	+	2	0	TRIM58	246105900	1.000000	0.71417	0.051000	0.19133	0.104000	0.19210	3.412000	0.52679	0.571000	0.29365	0.555000	0.69702	GGA		PASS	0.587	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		6	61	6	61	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112246	248112246	+	Silent	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:248112246C>G	ENST00000357191.3	+	1	87	c.87C>G	c.(85-87)ctC>ctG	p.L29L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L29L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCTTCATTCTCATTGTTTTCA	0.388																																						uc001idt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(85-87)CTC>CTG		olfactory receptor, family 2, subfamily L,							230.0	213.0	218.0					1																	248112246		2203	4300	6503	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112246C>G	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.87C>G	1.37:g.248112246C>G						OR2L13_uc001ids.2_Intron	p.L29L	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	87	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		29			Helical; Name=1; (Potential).		Q6IF03	Silent	SNP	ENST00000357191.3	37	c.87C>G	CCDS31101.1																																																																																				PASS	0.388	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			49	167	49	167	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248263294	248263294	+	Missense_Mutation	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:248263294T>C	ENST00000358120.2	+	2	762	c.617T>C	c.(616-618)cTc>cCc	p.L206P	OR2L13_ENST00000366478.2_Missense_Mutation_p.L206P			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L206P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AGCCTCTTTCTCCTTTTCCCT	0.443																																						uc001ids.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(616-618)CTC>CCC		olfactory receptor, family 2, subfamily L,							197.0	188.0	191.0					1																	248263294		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263294T>C	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.617T>C	1.37:g.248263294T>C	ENSP00000350836:p.Leu206Pro						p.L206P	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	954	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		206			Helical; Name=5; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.617T>C	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	T	7.107	0.575342	0.13623	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.39229	1.09;1.09	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000792	T	0.65026	0.2652	M	0.88906	2.99	0.09310	N	0.999997	D	0.76494	0.999	D	0.74348	0.983	T	0.59511	-0.7441	10	0.87932	D	0	.	7.767	0.28986	0.0:0.1007:0.0:0.8993	.	206	Q8N349	OR2LD_HUMAN	P	206	ENSP00000355434:L206P;ENSP00000350836:L206P	ENSP00000350836:L206P	L	+	2	0	OR2L13	246329917	0.000000	0.05858	0.413000	0.26509	0.012000	0.07955	0.043000	0.13971	1.736000	0.51660	0.528000	0.53228	CTC		PASS	0.443	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		35	78	35	78	---	---	---	---
OR2M4	26245	broad.mit.edu	37	1	248402623	248402623	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:248402623G>C	ENST00000306687.1	+	1	393	c.393G>C	c.(391-393)caG>caC	p.Q131H		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	131					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q131H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCCTCTTCAGTACACCATCC	0.473																																						uc010pzh.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(391-393)CAG>CAC		olfactory receptor, family 2, subfamily M,							171.0	138.0	149.0					1																	248402623		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402623G>C	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.393G>C	1.37:g.248402623G>C	ENSP00000306688:p.Gln131His						p.Q131H	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	393	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		131			Cytoplasmic (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.393G>C	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	1.683	-0.506012	0.04261	.	.	ENSG00000171180	ENST00000306687	T	0.00406	7.55	3.48	-0.45	0.12223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40385	N	0.001114	T	0.00109	0.0003	N	0.00801	-1.175	0.09310	N	1	P	0.38300	0.626	B	0.42882	0.401	T	0.32981	-0.9886	10	0.17832	T	0.49	.	0.1154	0.00060	0.2933:0.1766:0.1746:0.3555	.	131	Q96R27	OR2M4_HUMAN	H	131	ENSP00000306688:Q131H	ENSP00000306688:Q131H	Q	+	3	2	OR2M4	246469246	0.000000	0.05858	0.006000	0.13384	0.292000	0.27327	-3.788000	0.00366	0.138000	0.18790	0.536000	0.68110	CAG		PASS	0.473	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		35	77	35	77	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436434	248436434	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr1:248436434G>T	ENST00000318021.2	-	1	704	c.683C>A	c.(682-684)tCt>tAt	p.S228Y		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S228Y(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCTTCTGTAGAGCGCATGTG	0.512																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(682-684)TCT>TAT		olfactory receptor, family 2, subfamily T,							22.0	26.0	25.0					1																	248436434		2197	4277	6474	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436434G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.683C>A	1.37:g.248436434G>T	ENSP00000324687:p.Ser228Tyr						p.S228Y	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	683	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		228			Cytoplasmic (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.683C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	9.772	1.173034	0.21704	.	.	ENSG00000177212	ENST00000318021	T	0.00337	8.05	1.86	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.240841	0.21506	U	0.073457	T	0.01254	0.0041	H	0.96861	3.895	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.11941	-1.0567	10	0.87932	D	0	.	12.3733	0.55265	0.0:0.0:1.0:0.0	.	228	Q8NG76	O2T33_HUMAN	Y	228	ENSP00000324687:S228Y	ENSP00000324687:S228Y	S	-	2	0	OR2T33	246503057	0.013000	0.17824	0.021000	0.16686	0.358000	0.29455	1.447000	0.35101	1.338000	0.45544	0.494000	0.49563	TCT		PASS	0.512	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		9	45	9	45	---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11426670	11426670	+	Nonsense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:11426670G>A	ENST00000315872.6	-	3	767	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.Q107*(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTACCAACTGCACTTCACCA	0.363																																						uc002rbd.1																			2	Substitution - Nonsense(2)		lung(2)	stomach(2)|skin(2)	4						c.(319-321)CAG>TAG		Rho-associated, coiled-coil containing protein							222.0	216.0	218.0					2																	11426670		1911	4129	6040	SO:0001587	stop_gained	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11426670G>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.319C>T	2.37:g.11426670G>A	ENSP00000317985:p.Gln107*						p.Q107*	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	3	768	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		107			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Nonsense_Mutation	SNP	ENST00000315872.6	37	c.319C>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	37	6.308923	0.97462	.	.	ENSG00000134318	ENST00000315872;ENST00000431087	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	16.5493	0.84464	0.0:0.0:1.0:0.0	.	.	.	.	X	107;21	.	ENSP00000261535:Q107X	Q	-	1	0	ROCK2	11344121	1.000000	0.71417	0.973000	0.42090	0.924000	0.55760	8.745000	0.91600	2.269000	0.75478	0.655000	0.94253	CAG		PASS	0.363	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			11	187	11	187	---	---	---	---
MSGN1	343930	broad.mit.edu	37	2	17997991	17997991	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:17997991G>T	ENST00000281047.3	+	1	229	c.206G>T	c.(205-207)tGt>tTt	p.C69F		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	69					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.C69F(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGGCTGCCCTGTGAGCACGGC	0.617																																					Melanoma(127;325 1712 14802 40657 49130)	uc010yjt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(205-207)TGT>TTT		mesogenin 1							41.0	48.0	46.0					2																	17997991		1928	4118	6046	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17997991G>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.206G>T	2.37:g.17997991G>T	ENSP00000281047:p.Cys69Phe						p.C69F	NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN			1	206	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		69						Missense_Mutation	SNP	ENST00000281047.3	37	c.206G>T	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	5.491	0.275589	0.10403	.	.	ENSG00000151379	ENST00000281047	T	0.17054	2.3	5.6	2.83	0.33086	.	0.828036	0.11619	N	0.545925	T	0.11196	0.0273	L	0.43152	1.355	0.37912	D	0.931414	B	0.06786	0.001	B	0.04013	0.001	T	0.18555	-1.0333	10	0.09590	T	0.72	-12.6264	2.2863	0.04127	0.2275:0.1312:0.5062:0.135	.	69	A6NI15	MSGN1_HUMAN	F	69	ENSP00000281047:C69F	ENSP00000281047:C69F	C	+	2	0	MSGN1	17861472	0.001000	0.12720	0.898000	0.35279	0.065000	0.16274	0.452000	0.21795	0.324000	0.23333	-0.176000	0.13171	TGT		PASS	0.617	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		17	96	17	96	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32477621	32477621	+	Nonsense_Mutation	SNP	G	G	T	rs200374202		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:32477621G>T	ENST00000404025.2	-	4	617	c.129C>A	c.(127-129)tgC>tgA	p.C43*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.C43*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.C43*|NLRC4_ENST00000342905.6_Nonsense_Mutation_p.C43*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	43	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.C43*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCACCTTCTCGCAGCAAATGA	0.403																																						uc002roi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(127-129)TGC>TGA		caspase recruitment domain protein 12							176.0	160.0	166.0					2																	32477621		2203	4300	6503	SO:0001587	stop_gained	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32477621G>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.129C>A	2.37:g.32477621G>T	ENSP00000385090:p.Cys43*					NLRC4_uc002roj.1_Nonsense_Mutation_p.C43*|NLRC4_uc010ezt.1_Nonsense_Mutation_p.C43*	p.C43*	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			3	375	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		43			CARD.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.129C>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773529	0.49786	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	.	.	.	4.16	-0.982	0.10266	.	0.241453	0.26731	N	0.022797	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.7047	7.9003	0.29731	0.6211:0.0:0.3789:0.0	.	.	.	.	X	43	.	ENSP00000339666:C43X	C	-	3	2	NLRC4	32331125	0.000000	0.05858	0.041000	0.18516	0.132000	0.20833	-0.655000	0.05348	-0.294000	0.08973	0.411000	0.27672	TGC		PASS	0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		18	165	18	165	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60688573	60688573	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:60688573C>T	ENST00000335712.6	-	4	1701	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.E458K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E492K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E161K|BCL11A_ENST00000538214.1_Missense_Mutation_p.E458K|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	492	Glu-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.E492K(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			tcctcttcctcgtcgtcctcc	0.647			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		2	Substitution - Missense(2)		lung(2)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1474-1476)GAG>AAG		B-cell CLL/lymphoma 11A isoform 1							14.0	15.0	14.0					2																	60688573		2191	4289	6480	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688573C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1474G>A	2.37:g.60688573C>T	ENSP00000338774:p.Glu492Lys					BCL11A_uc002sab.2_Missense_Mutation_p.E492K|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.E161K|BCL11A_uc010ypj.1_Missense_Mutation_p.E458K|BCL11A_uc002sad.1_Missense_Mutation_p.E340K|BCL11A_uc002saf.1_Missense_Mutation_p.E458K	p.E492K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1702	-			492			Glu-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1474G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979086	0.53827	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.35421	2.92;2.92;1.31;2.92;2.92	5.47	5.47	0.80525	.	0.389913	0.24965	N	0.034189	T	0.50017	0.1591	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.988;1.0	D;D;D;P;D	0.80764	0.994;0.959;0.982;0.548;0.991	T	0.42515	-0.9447	10	0.39692	T	0.17	.	18.9526	0.92645	0.0:1.0:0.0:0.0	.	458;161;458;492;492	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	K	492;528;458;161;492;458	ENSP00000349300:E492K;ENSP00000438303:E458K;ENSP00000443712:E161K;ENSP00000338774:E492K;ENSP00000351307:E458K	ENSP00000338774:E492K	E	-	1	0	BCL11A	60542077	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.567000	0.86603	0.655000	0.94253	GAG		PASS	0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		4	28	4	28	---	---	---	---
MTHFD2	10797	broad.mit.edu	37	2	74425778	74425778	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:74425778A>G	ENST00000394053.2	+	1	90	c.10A>G	c.(10-12)Act>Gct	p.T4A	MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.T4A|MTHFD2_ENST00000264090.4_5'UTR|MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409601.1_Missense_Mutation_p.T4A	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	4					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)	p.T4A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TATGGCTGCGACTTCTCTAAT	0.701																																						uc002skk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)ACT>GCT		methylenetetrahydrofolate dehydrogenase 2	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						12.0	15.0	14.0					2																	74425778		1950	4131	6081	SO:0001583	missense	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74425778A>G	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.10A>G	2.37:g.74425778A>G	ENSP00000377617:p.Thr4Ala					MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_5'UTR|MTHFD2_uc010ffb.2_Missense_Mutation_p.T4A|MTHFD2_uc010yrp.1_5'UTR	p.T4A	NM_006636	NP_006627	P13995	MTDC_HUMAN			1	89	+			4					Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	c.10A>G	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449469	0.26074	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000409601	T;T;T	0.41065	2.04;1.01;2.01	4.58	-9.16	0.00694	.	.	.	.	.	T	0.11750	0.0286	N	0.08118	0	0.21445	N	0.999683	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25467	-1.0131	9	0.02654	T	1	.	0.5842	0.00717	0.2552:0.3001:0.2096:0.2351	.	4;4	B8ZZU9;P13995	.;MTDC_HUMAN	A	4	ENSP00000377617:T4A;ENSP00000386536:T4A;ENSP00000386542:T4A	ENSP00000377617:T4A	T	+	1	0	MTHFD2	74279286	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.058000	0.01394	-2.495000	0.00514	-0.389000	0.06534	ACT		PASS	0.701	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			6	18	6	18	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79312345	79312345	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:79312345G>T	ENST00000305089.3	-	6	578	c.498C>A	c.(496-498)aaC>aaA	p.N166K		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	166					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.N166K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCTTCCTCTAGTTTTTGAACT	0.378																																						uc002sny.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(496-498)AAC>AAA		regenerating islet-derived 1 beta precursor							132.0	127.0	129.0					2																	79312345		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312345G>T		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.498C>A	2.37:g.79312345G>T	ENSP00000303206:p.Asn166Lys						p.N166K	NM_006507	NP_006498	P48304	REG1B_HUMAN			6	610	-			166						Missense_Mutation	SNP	ENST00000305089.3	37	c.498C>A	CCDS1963.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.67|10.67	1.414300|1.414300	0.25465|0.25465	.|.	.|.	ENSG00000172023|ENSG00000172023	ENST00000305089|ENST00000454188	T|T	0.04049|0.07114	3.72|3.22	3.47|3.47	3.47|3.47	0.39725|0.39725	.|.	1.450490|.	0.04733|.	N|.	0.421375|.	T|T	0.12860|0.12860	0.0312|0.0312	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999995|0.999995	B|.	0.25486|.	0.127|.	B|.	0.15052|.	0.012|.	T|T	0.09975|0.09975	-1.0650|-1.0650	10|7	0.62326|0.87932	D|D	0.03|0	.|.	10.6119|10.6119	0.45427|0.45427	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	166|.	P48304|.	REG1B_HUMAN|.	K|N	166|146	ENSP00000303206:N166K|ENSP00000387410:T146N	ENSP00000303206:N166K|ENSP00000387410:T146N	N|T	-|-	3|2	2|0	REG1B|REG1B	79165853|79165853	0.291000|0.291000	0.24352|0.24352	0.106000|0.106000	0.21319|0.21319	0.565000|0.565000	0.35776|0.35776	1.018000|1.018000	0.30002|0.30002	1.923000|1.923000	0.55706|0.55706	0.484000|0.484000	0.47621|0.47621	AAC|ACT		PASS	0.378	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		37	64	37	64	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80620418	80620418	+	Splice_Site	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:80620418T>C	ENST00000402739.4	+	7	1142		c.e7+2		CTNNA2_ENST00000361291.4_Splice_Site|CTNNA2_ENST00000496558.1_Splice_Site|CTNNA2_ENST00000540488.1_Splice_Site|CTNNA2_ENST00000343114.3_Splice_Site|CTNNA2_ENST00000466387.1_Splice_Site|CTNNA2_ENST00000541047.1_Splice_Site	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2						axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.?(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGGAGACAGGTACTATTTTTT	0.343																																						uc010ysh.1																			2	Unknown(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.e7+2		catenin, alpha 2 isoform 1							75.0	72.0	73.0					2																	80620418		1815	4074	5889	SO:0001630	splice_region_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80620418T>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1137+2T>C	2.37:g.80620418T>C						CTNNA2_uc010yse.1_Splice_Site_p.Q379_splice|CTNNA2_uc010ysf.1_Splice_Site_p.Q379_splice|CTNNA2_uc010ysg.1_Splice_Site_p.Q379_splice|CTNNA2_uc010ysi.1_Splice_Site_p.Q11_splice	p.Q379_splice	NM_004389	NP_004380	P26232	CTNA2_HUMAN			7	1142	+								B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Splice_Site	SNP	ENST00000402739.4	37	c.1137_splice		.	.	.	.	.	.	.	.	.	.	T	18.60	3.658962	0.67586	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9407	0.79750	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNNA2	80473929	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	6.519000	0.73768	2.243000	0.73865	0.533000	0.62120	.		PASS	0.343	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	Intron	13	157	13	157	---	---	---	---
RPIA	22934	broad.mit.edu	37	2	89049497	89049497	+	Splice_Site	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:89049497G>T	ENST00000283646.4	+	9	893		c.e9-1			NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A						carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TTGTCCTGCAGGTGTGGTGGA	0.478																																						uc002ste.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e9-1		ribose 5-phosphate isomerase A							122.0	114.0	116.0					2																	89049497		2012	4209	6221	SO:0001630	splice_region_variant	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89049497G>T	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.839-1G>T	2.37:g.89049497G>T							p.G280_splice	NM_144563	NP_653164	P49247	RPIA_HUMAN			9	880	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)						Q541P9|Q96BJ6	Splice_Site	SNP	ENST00000283646.4	37	c.839_splice	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986906	0.74589	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8675	0.92298	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPIA	88830612	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.948000	0.75965	2.561000	0.86390	0.563000	0.77884	.		PASS	0.478	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2		Intron	21	61	21	61	---	---	---	---
IGKV1-12	28940	broad.mit.edu	37	2	89339774	89339774	+	RNA	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:89339774G>T	ENST00000480492.1	-	0	344									immunoglobulin kappa variable 1-12																		TCAGGCTGCAGGCTGCTGATG	0.498																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							151.0	119.0	129.0					2																	89339774		1877	4109	5986			0							g.chr2:89339774G>T	V01577		2p11.2	2012-02-10			ENSG00000243290	ENSG00000243290		"""Immunoglobulins / IGK locus"""	5730	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV112, L19	uc011agg.1		OTTHUMG00000151643		2.37:g.89339774G>T						uc002stl.2_Intron								64		-									RNA	SNP	ENST00000480492.1	37	c.6085C>A																																																																																					PASS	0.498	IGKV1-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323392.1	NG_000834		97	146	97	146	---	---	---	---
IGKV3D-11	28876	broad.mit.edu	37	2	90212099	90212099	+	RNA	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:90212099C>A	ENST00000390277.2	+	0	288									immunoglobulin kappa variable 3D-11																		GGCCAGGCTCCCAGGCTCCTC	0.592																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							43.0	52.0	49.0					2																	90212099		1840	4084	5924			0							g.chr2:90212099C>A	X17264		2p11.2	2012-02-08			ENSG00000211632	ENSG00000211632		"""Immunoglobulins / IGK locus"""	5823	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151563		2.37:g.90212099C>A														26		+									RNA	SNP	ENST00000390277.2	37	c.3523C>A																																																																																					PASS	0.592	IGKV3D-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323138.2	NG_000833		9	116	9	116	---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98349354	98349354	+	Missense_Mutation	SNP	C	C	T	rs56403250		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:98349354C>T	ENST00000264972.5	+	5	787	c.572C>T	c.(571-573)cCg>cTg	p.P191L	ZAP70_ENST00000451498.2_5'Flank|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.P65L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	191	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		P -> L (in dbSNP:rs56403250). {ECO:0000269|PubMed:17344846}.		adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P191L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGGCTGAGGCCGCGGAAGGAG	0.637																																						uc002syd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(571-573)CCG>CTG		zeta-chain associated protein kinase 70kDa							67.0	54.0	58.0					2																	98349354		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98349354C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.572C>T	2.37:g.98349354C>T	ENSP00000264972:p.Pro191Leu					ZAP70_uc010yvf.1_Missense_Mutation_p.P191L|ZAP70_uc002sye.1_Missense_Mutation_p.P81L|ZAP70_uc002syf.1_5'Flank	p.P191L	NM_001079	NP_001070	P43403	ZAP70_HUMAN			5	779	+			191			SH2 2.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.572C>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808837	0.50421	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	D;D	0.88431	-2.38;-2.38	5.46	5.46	0.80206	SH2 motif (5);	0.287902	0.25025	N	0.033729	D	0.84781	0.5548	N	0.17838	0.53	0.49915	D	0.999832	D;D	0.62365	0.989;0.991	P;P	0.49361	0.473;0.608	D	0.86091	0.1550	10	0.66056	D	0.02	.	12.1804	0.54208	0.1707:0.8293:0.0:0.0	rs56403250	65;191	P43403-3;P43403	.;ZAP70_HUMAN	L	191;65	ENSP00000264972:P191L;ENSP00000411141:P65L	ENSP00000264972:P191L	P	+	2	0	ZAP70	97715786	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.982000	0.70532	2.716000	0.92895	0.655000	0.94253	CCG		PASS	0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			6	63	6	63	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102625053	102625053	+	Missense_Mutation	SNP	G	G	T	rs148522700		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:102625053G>T	ENST00000332549.3	+	2	245	c.16G>T	c.(16-18)Gtg>Ttg	p.V6L	IL1R2_ENST00000441002.1_Missense_Mutation_p.V6L|IL1R2_ENST00000393414.2_Missense_Mutation_p.V6L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	6					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.V6L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GCGCTTGTACGTGTTGGTAAT	0.532																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(16-18)GTG>TTG		interleukin 1 receptor, type II precursor	Anakinra(DB00026)						267.0	234.0	245.0					2																	102625053		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102625053G>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.16G>T	2.37:g.102625053G>T	ENSP00000330959:p.Val6Leu					IL1R2_uc002tbn.2_Missense_Mutation_p.V6L|IL1R2_uc002tbo.1_Missense_Mutation_p.V6L	p.V6L	NM_004633	NP_004624	P27930	IL1R2_HUMAN			2	245	+			6					D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.16G>T	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310056	0.23821	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.34472	2.14;2.14;1.36;2.14	4.74	-8.61	0.00885	.	1.665670	0.03048	N	0.154207	T	0.20047	0.0482	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.09952	-1.0651	10	0.22109	T	0.4	.	9.513	0.39089	0.2276:0.2317:0.5407:0.0	.	6	P27930	IL1R2_HUMAN	L	6	ENSP00000330959:V6L;ENSP00000377066:V6L;ENSP00000408415:V6L;ENSP00000414611:V6L	ENSP00000330959:V6L	V	+	1	0	IL1R2	101991485	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.691000	0.05133	-1.681000	0.01448	-0.379000	0.06801	GTG		PASS	0.532	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		28	300	28	300	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103148810	103148810	+	Missense_Mutation	SNP	G	G	T	rs545007091		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:103148810G>T	ENST00000295269.4	+	12	2517	c.2060G>T	c.(2059-2061)gGa>gTa	p.G687V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	687					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.G687V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGTGATCCAGGATCCCCATCC	0.453																																						uc002tbz.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(2059-2061)GGA>GTA		solute carrier family 9 (sodium/hydrogen							105.0	106.0	106.0					2																	103148810		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103148810G>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2060G>T	2.37:g.103148810G>T	ENSP00000295269:p.Gly687Val						p.G687V	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			12	2517	+			687			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2060G>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	7.873	0.728495	0.15507	.	.	ENSG00000180251	ENST00000295269	T	0.41400	1.0	4.78	1.48	0.22813	.	0.899589	0.09402	N	0.807053	T	0.20820	0.0501	N	0.12182	0.205	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	10	0.25751	T	0.34	.	3.1547	0.06500	0.4159:0.0:0.3951:0.189	.	687	Q6AI14	SL9A4_HUMAN	V	687	ENSP00000295269:G687V	ENSP00000295269:G687V	G	+	2	0	SLC9A4	102515242	0.207000	0.23482	0.007000	0.13788	0.009000	0.06853	0.698000	0.25571	0.436000	0.26393	0.655000	0.94253	GGA		PASS	0.453	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		6	126	6	126	---	---	---	---
SCTR	6344	broad.mit.edu	37	2	120204407	120204407	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:120204407G>A	ENST00000019103.5	-	11	1335	c.1068C>T	c.(1066-1068)atC>atT	p.I356I		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	356					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.I356I(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGCGAAGACGATGTAGTGGA	0.592																																						uc002tma.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1066-1068)ATC>ATT		secretin receptor precursor	Secretin(DB00021)						99.0	97.0	98.0					2																	120204407		2203	4300	6503	SO:0001819	synonymous_variant	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120204407G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.1068C>T	2.37:g.120204407G>A						SCTR_uc002tlz.2_Silent_p.I178I	p.I356I	NM_002980	NP_002971	P47872	SCTR_HUMAN			11	1294	-			356			Helical; Name=6; (Potential).		Q12961|Q13213|Q53T00	Silent	SNP	ENST00000019103.5	37	c.1068C>T	CCDS2127.1																																																																																				PASS	0.592	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			19	133	19	133	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130832686	130832686	+	Missense_Mutation	SNP	G	G	T	rs376041561		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:130832686G>T	ENST00000409914.2	-	17	2758	c.2359C>A	c.(2359-2361)Cac>Aac	p.H787N	POTEF_ENST00000357462.5_Missense_Mutation_p.H787N	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	787	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.H787N(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGGTGTGGTGCCAGATCTTC	0.592																																						uc010fmh.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2359-2361)CAC>AAC		prostate, ovary, testis expressed protein on							50.0	54.0	52.0					2																	130832686		2200	4297	6497	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130832686G>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2359C>A	2.37:g.130832686G>T	ENSP00000386786:p.His787Asn						p.H787N	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	2759	-			787			Actin-like.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2359C>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	15.37	2.813326	0.50527	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.97041	-4.22;-4.22	.	.	.	.	.	.	.	.	D	0.97617	0.9219	M	0.80982	2.52	0.80722	D	1	D	0.55385	0.971	D	0.70227	0.968	D	0.95809	0.8840	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	787	A5A3E0	POTEF_HUMAN	N	787	ENSP00000350052:H787N;ENSP00000386786:H787N	ENSP00000350052:H787N	H	-	1	0	POTEF	130549156	1.000000	0.71417	0.225000	0.23894	0.227000	0.25037	6.509000	0.73725	0.119000	0.18210	0.121000	0.15741	CAC		PASS	0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		25	72	25	72	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130872836	130872836	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:130872836C>T	ENST00000409914.2	-	4	986	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	POTEF_ENST00000360967.5_Missense_Mutation_p.R196Q|POTEF_ENST00000361163.4_Missense_Mutation_p.R196Q|POTEF_ENST00000357462.5_Missense_Mutation_p.R196Q	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	196					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R196Q(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGTTGACATCGTCTGTCCAG	0.413																																						uc010fmh.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(586-588)CGA>CAA		prostate, ovary, testis expressed protein on							13.0	15.0	14.0					2																	130872836		1789	3538	5327	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130872836C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.587G>A	2.37:g.130872836C>T	ENSP00000386786:p.Arg196Gln						p.R196Q	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			4	987	-			196			ANK 1.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.587G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	10.05	1.244744	0.22796	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;D	0.82803	0.68;0.68;0.68;-1.65	1.13	1.13	0.20643	Ankyrin repeat-containing domain (4);	0.674489	0.12697	N	0.446625	T	0.67069	0.2854	N	0.21324	0.655	0.18873	N	0.999989	B	0.14805	0.011	B	0.01281	0.0	T	0.52533	-0.8563	10	0.38643	T	0.18	.	3.1821	0.06588	0.0:0.2711:0.0:0.7289	.	196	A5A3E0	POTEF_HUMAN	Q	196	ENSP00000350052:R196Q;ENSP00000386786:R196Q;ENSP00000354232:R196Q;ENSP00000355012:R196Q	ENSP00000350052:R196Q	R	-	2	0	POTEF	130589306	0.987000	0.35691	0.001000	0.08648	0.298000	0.27526	0.598000	0.24074	-0.037000	0.13646	-1.353000	0.01230	CGA		PASS	0.413	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		4	123	4	123	---	---	---	---
CCDC115	84317	broad.mit.edu	37	2	131098596	131098596	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:131098596C>A	ENST00000259229.2	-	4	538	c.315G>T	c.(313-315)aaG>aaT	p.K105N	CCDC115_ENST00000437688.2_Missense_Mutation_p.K100N|CCDC115_ENST00000409127.1_Missense_Mutation_p.K100N|IMP4_ENST00000259239.3_5'Flank|IMP4_ENST00000409935.1_5'Flank	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	105						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)		p.K105N(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TAGTGGGGCCCTTGCGCCTCC	0.552																																						uc002tqy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)AAG>AAT		coiled-coil domain containing 115							23.0	26.0	25.0					2																	131098596		2203	4300	6503	SO:0001583	missense	84317					endosome|lysosome		g.chr2:131098596C>A	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.315G>T	2.37:g.131098596C>A	ENSP00000259229:p.Lys105Asn					CCDC115_uc002tqw.1_Missense_Mutation_p.K97N|CCDC115_uc010zaf.1_Missense_Mutation_p.K100N|CCDC115_uc002tqx.2_Missense_Mutation_p.K100N|CCDC115_uc002tqz.1_Missense_Mutation_p.K105N|IMP4_uc002tra.1_5'Flank	p.K105N	NM_032357	NP_115733	Q96NT0	CC115_HUMAN			4	539	-	Colorectal(110;0.1)		105					B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	37	c.315G>T	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621585	0.46736	.	.	ENSG00000136710	ENST00000259229;ENST00000409127;ENST00000437688	D;D;D	0.96104	-3.91;-3.91;-3.91	3.65	3.65	0.41850	.	0.370466	0.25197	N	0.032415	D	0.96806	0.8957	M	0.75264	2.295	0.40223	D	0.977759	D;D;D;D	0.69078	0.997;0.997;0.995;0.995	D;P;D;D	0.64877	0.93;0.899;0.919;0.919	D	0.96266	0.9195	10	0.41790	T	0.15	-4.1933	13.6351	0.62217	0.0:1.0:0.0:0.0	.	100;105;105;100	B4DJ47;F8WCZ3;Q96NT0;B8ZZ99	.;.;CC115_HUMAN;.	N	105;100;100	ENSP00000259229:K105N;ENSP00000387301:K100N;ENSP00000399756:K100N	ENSP00000259229:K105N	K	-	3	2	CCDC115	130815066	1.000000	0.71417	0.995000	0.50966	0.043000	0.13939	1.794000	0.38774	2.332000	0.79248	0.655000	0.94253	AAG		PASS	0.552	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357		8	15	8	15	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136570498	136570498	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:136570498G>C	ENST00000264162.2	-	7	1746	c.1736C>G	c.(1735-1737)gCc>gGc	p.A579G	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	579	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.A579G(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCAAGTTCTGGCATGAGCCTT	0.488																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(1735-1737)GCC>GGC		lactase-phlorizin hydrolase preproprotein							45.0	40.0	42.0					2																	136570498		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570498G>C	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1736C>G	2.37:g.136570498G>C	ENSP00000264162:p.Ala579Gly						p.A579G	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	1747	-			579			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.1736C>G	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863036	0.91511	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.39229	1.09	5.49	5.49	0.81192	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	L	0.51853	1.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60026	-0.7343	10	0.51188	T	0.08	-24.6714	19.3929	0.94592	0.0:0.0:1.0:0.0	.	579	P09848	LPH_HUMAN	G	579;11	ENSP00000264162:A579G	ENSP00000264162:A579G	A	-	2	0	LCT	136286968	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.869000	0.99810	2.583000	0.87209	0.655000	0.94253	GCC		PASS	0.488	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		11	25	11	25	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138400099	138400099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:138400099G>T	ENST00000409968.1	+	21	4019	c.3841G>T	c.(3841-3843)Gga>Tga	p.G1281*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.G1253*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.G1284*|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1283	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.G1253*(1)|p.G1284*(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)		GCCAACCCAAGGAGAAGGACG	0.507																																						uc002tva.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3754-3756)GGA>TGA		thrombospondin, type I, domain containing 7B							126.0	124.0	125.0					2																	138400099		1896	4110	6006	SO:0001587	stop_gained	80731							g.chr2:138400099G>T			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.3841G>T	2.37:g.138400099G>T	ENSP00000387145:p.Gly1281*					THSD7B_uc010zbj.1_Intron	p.G1252*	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	20	3754	+									Nonsense_Mutation	SNP	ENST00000409968.1	37	c.3754G>T		.	.	.	.	.	.	.	.	.	.	G	45	12.016367	0.99627	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	.	.	.	5.19	5.19	0.71726	.	0.219986	0.47093	D	0.000245	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	17.648	0.88154	0.0:0.0:1.0:0.0	.	.	.	.	X	1281;1284;1253	.	ENSP00000272643:G1284X	G	+	1	0	THSD7B	138116569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.751000	0.68720	2.699000	0.92147	0.561000	0.74099	GGA		PASS	0.507	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		8	102	8	102	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141243020	141243020	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:141243020G>T	ENST00000389484.3	-	59	10288	c.9317C>A	c.(9316-9318)aCa>aAa	p.T3106K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3106					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T3106K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTTTTTTCTGTGTCAGACCA	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(9316-9318)ACA>AAA		low density lipoprotein-related protein 1B							147.0	139.0	142.0					2																	141243020		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141243020G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9317C>A	2.37:g.141243020G>T	ENSP00000374135:p.Thr3106Lys	TSP Lung(27;0.18)					p.T3106K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	59	10289	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3106			Extracellular (Potential).|LDL-receptor class B 29.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9317C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	7.135	0.580618	0.13686	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93307	-3.2	5.44	4.57	0.56435	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.140285	0.48286	D	0.000187	D	0.85323	0.5670	L	0.28458	0.855	0.30523	N	0.768271	B	0.02656	0.0	B	0.01281	0.0	T	0.72057	-0.4405	10	0.02654	T	1	.	9.2417	0.37500	0.0732:0.0:0.7822:0.1446	.	3106	Q9NZR2	LRP1B_HUMAN	K	3106;3044	ENSP00000374135:T3106K	ENSP00000374135:T3106K	T	-	2	0	LRP1B	140959490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.967000	0.63722	1.422000	0.47177	0.655000	0.94253	ACA		PASS	0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		17	45	17	45	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157138	145157138	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:145157138C>A	ENST00000558170.2	-	8	2800	c.1616G>T	c.(1615-1617)tGc>tTc	p.C539F	ZEB2_ENST00000409487.3_Missense_Mutation_p.C539F|ZEB2_ENST00000303660.4_Missense_Mutation_p.C539F|ZEB2_ENST00000539609.3_Missense_Mutation_p.C515F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	539					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.C539F(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTCTGGAGGCAAGCTTTGGC	0.393																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1615-1617)TGC>TTC		zinc finger homeobox 1b							100.0	102.0	102.0					2																	145157138		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157138C>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1616G>T	2.37:g.145157138C>A	ENSP00000454157:p.Cys539Phe					ZEB2_uc002tvv.2_Missense_Mutation_p.C533F|ZEB2_uc010zbm.1_Missense_Mutation_p.C510F|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.C568F	p.C539F	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2096	-			539					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1616G>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057572	0.55325	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.88584	0.6476	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.69078	0.997;0.995;0.995;0.997	D;D;D;D	0.85130	0.964;0.986;0.986;0.997	D	0.88836	0.3309	10	0.66056	D	0.02	-8.4773	19.9312	0.97120	0.0:1.0:0.0:0.0	.	515;404;538;539	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	F	515;539;539;539	ENSP00000443792:C515F;ENSP00000302501:C539F;ENSP00000386854:C539F;ENSP00000395496:C539F	ENSP00000302501:C539F	C	-	2	0	ZEB2	144873608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.700000	0.92200	0.650000	0.86243	TGC		PASS	0.393	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		30	66	30	66	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166892837	166892837	+	Silent	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:166892837T>C	ENST00000303395.4	-	16	3149	c.3150A>G	c.(3148-3150)ccA>ccG	p.P1050P	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Silent_p.P1050P|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.P1022P|SCN1A_ENST00000375405.3_Silent_p.P1039P			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1050					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.P1050P(1)|p.P1039P(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATCATCAAGTGGTTTAATTT	0.303																																						uc010zcz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(3115-3117)CCA>CCG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						89.0	87.0	88.0					2																	166892837		2202	4299	6501	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166892837T>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3150A>G	2.37:g.166892837T>C						SCN1A_uc002udo.3_Silent_p.P919P|SCN1A_uc010fpk.2_Silent_p.P891P	p.P1039P	NM_006920	NP_008851	P35498	SCN1A_HUMAN			16	3135	-			1050					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3117A>G	CCDS54413.1																																																																																				PASS	0.303	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		4	58	4	58	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168102211	168102211	+	Nonsense_Mutation	SNP	C	C	T	rs200163924	byFrequency	TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:168102211C>T	ENST00000409195.1	+	9	4398	c.4309C>T	c.(4309-4311)Cga>Tga	p.R1437*	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.R1215*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.R1437*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1262					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R1437*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAACTATATACGAACAGTAAG	0.338													C|||	3	0.000599042	0.0	0.0	5008	,	,		19633	0.002		0.001	False		,,,				2504	0.0					uc002udx.2																			1	Substitution - Nonsense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(4309-4311)CGA>TGA		xin actin-binding repeat containing 2 isoform 1							63.0	56.0	58.0					2																	168102211		1828	4082	5910	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102211C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4309C>T	2.37:g.168102211C>T	ENSP00000386840:p.Arg1437*					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.R1262*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.R1215*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.R1437*	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4327	+			1262					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.4309C>T	CCDS42769.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	42	9.773591	0.99260	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.67	4.52	0.55395	.	0.048117	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8006	11.9541	0.52970	0.8475:0.1525:0.0:0.0	.	.	.	.	X	1437;1437;1215	.	ENSP00000295237:R1437X	R	+	1	2	XIRP2	167810457	1.000000	0.71417	0.994000	0.49952	0.683000	0.39861	2.746000	0.47467	0.986000	0.38683	-0.457000	0.05445	CGA		PASS	0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	52	4	52	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106300	168106300	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:168106300G>T	ENST00000409195.1	+	9	8487	c.8398G>T	c.(8398-8400)Gtt>Ttt	p.V2800F	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2578F|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2800F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2625					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.V2800F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTCAAGATGGTTCCCAGGAA	0.413																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8398-8400)GTT>TTT		xin actin-binding repeat containing 2 isoform 1							72.0	69.0	70.0					2																	168106300		1863	4103	5966	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106300G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8398G>T	2.37:g.168106300G>T	ENSP00000386840:p.Val2800Phe					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V2625F|XIRP2_uc010fpq.2_Missense_Mutation_p.V2578F|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.V146F	p.V2800F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8416	+			2625					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8398G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651755	0.29336	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03330	3.97;3.97;3.98	6.17	1.29	0.21616	.	0.409426	0.24561	N	0.037468	T	0.03915	0.0110	M	0.65975	2.015	0.09310	N	1	B;B;B	0.15141	0.007;0.012;0.012	B;B;B	0.12156	0.003;0.007;0.007	T	0.41431	-0.9509	10	0.20046	T	0.44	-0.4663	2.7922	0.05391	0.2539:0.1163:0.5105:0.1193	.	2625;2625;2578	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	2800;2800;2578;214	ENSP00000386840:V2800F;ENSP00000295237:V2800F;ENSP00000387255:V2578F	ENSP00000295237:V2800F	V	+	1	0	XIRP2	167814546	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.003000	0.13083	0.473000	0.27368	0.655000	0.94253	GTT		PASS	0.413	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		10	56	10	56	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207172970	207172970	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:207172970G>A	ENST00000374423.3	+	5	4104	c.3718G>A	c.(3718-3720)Ggt>Agt	p.G1240S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1240							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G1240S(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGAAGCTAAGGGTTTTGAAAT	0.428																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3718-3720)GGT>AGT		zinc finger, DBF-type containing 2							47.0	48.0	47.0					2																	207172970		1868	4110	5978	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172970G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3718G>A	2.37:g.207172970G>A	ENSP00000363545:p.Gly1240Ser						p.G1240S	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	3968	+			1240					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3718G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	4.462	0.085683	0.08583	.	.	ENSG00000204186	ENST00000374423	T	0.56103	0.48	3.74	-4.16	0.03869	.	.	.	.	.	T	0.34716	0.0907	L	0.46157	1.445	0.09310	N	1	B	0.26363	0.147	B	0.18263	0.021	T	0.21861	-1.0233	9	0.44086	T	0.13	.	1.3116	0.02099	0.3419:0.2869:0.2454:0.1258	.	1240	Q9HCK1	ZDBF2_HUMAN	S	1240	ENSP00000363545:G1240S	ENSP00000363545:G1240S	G	+	1	0	ZDBF2	206881215	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.723000	0.04952	-1.042000	0.03262	-0.802000	0.03209	GGT		PASS	0.428	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		5	46	5	46	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209141537	209141537	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:209141537A>G	ENST00000264380.4	+	4	582	c.424A>G	c.(424-426)Atg>Gtg	p.M142V	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.M142V|PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000308862.6_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	142					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.M142V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CAAGGAAATCATGGAGGGGAA	0.458																																						uc002vcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(424-426)ATG>GTG		phosphatidylinositol-3-phosphate 5-kinase type							59.0	59.0	59.0					2																	209141537		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209141537A>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.424A>G	2.37:g.209141537A>G	ENSP00000264380:p.Met142Val					PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.M142V|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.M142V|PIKFYVE_uc002vcx.2_Intron	p.M142V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			4	582	+			142					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.424A>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652878	0.47362	.	.	ENSG00000115020	ENST00000264380;ENST00000407449;ENST00000422495;ENST00000452564	T;T;T;T	0.64085	1.68;-0.08;-0.05;1.82	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	N	0.19112	0.55	0.80722	D	1	P;D;P	0.54964	0.865;0.969;0.713	P;D;P	0.63381	0.824;0.914;0.678	T	0.56438	-0.7979	10	0.07644	T	0.81	-20.7676	16.1846	0.81942	1.0:0.0:0.0:0.0	.	142;142;142	Q9Y2I7;E9PDH4;Q08AR7	FYV1_HUMAN;.;.	V	142;142;154;142	ENSP00000264380:M142V;ENSP00000384356:M142V;ENSP00000414477:M154V;ENSP00000405736:M142V	ENSP00000264380:M142V	M	+	1	0	PIKFYVE	208849782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.042000	0.93793	2.229000	0.72834	0.533000	0.62120	ATG		PASS	0.458	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		7	42	7	42	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209190212	209190212	+	Missense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:209190212A>T	ENST00000264380.4	+	20	2835	c.2677A>T	c.(2677-2679)Att>Ttt	p.I893F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	893					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.I893F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCATTCCCTGATTGAGGGACG	0.493																																						uc002vcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(2677-2679)ATT>TTT		phosphatidylinositol-3-phosphate 5-kinase type							110.0	108.0	109.0					2																	209190212		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190212A>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2677A>T	2.37:g.209190212A>T	ENSP00000264380:p.Ile893Phe					PIKFYVE_uc010fun.1_Missense_Mutation_p.I574F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.I837F	p.I893F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			20	2835	+			893					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2677A>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	6.399	0.441806	0.12164	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.32988	1.43;1.54	5.77	4.58	0.56647	.	0.242203	0.34853	N	0.003631	T	0.32704	0.0838	M	0.63428	1.95	0.80722	D	1	B;B	0.18166	0.026;0.026	B;B	0.20384	0.02;0.029	T	0.09378	-1.0677	10	0.52906	T	0.07	-4.3415	12.2576	0.54633	0.9327:0.0:0.0673:0.0	.	893;837	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	F	893;469;837	ENSP00000264380:I893F;ENSP00000405736:I837F	ENSP00000264380:I893F	I	+	1	0	PIKFYVE	208898457	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	3.019000	0.49635	1.077000	0.40990	0.528000	0.53228	ATT		PASS	0.493	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		17	77	17	77	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228996729	228996729	+	Missense_Mutation	SNP	G	G	C	rs533368400		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:228996729G>C	ENST00000392056.3	-	2	151	c.105C>G	c.(103-105)agC>agG	p.S35R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S35R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	35						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S35R(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)		TCCCCGGGCCGCTTCCTGAGC	0.468																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(103-105)AGC>AGG		sphingosine kinase type 1-interacting protein							82.0	89.0	87.0					2																	228996729		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228996729G>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.105C>G	2.37:g.228996729G>C	ENSP00000375909:p.Ser35Arg					SPHKAP_uc002vpp.2_Missense_Mutation_p.S35R|SPHKAP_uc010zlx.1_Missense_Mutation_p.S35R	p.S35R	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)	2	152	-		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)	35					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.105C>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703488	0.30232	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.39229	1.09;1.09	5.93	3.15	0.36227	.	0.354583	0.30151	N	0.010291	T	0.35711	0.0941	N	0.19112	0.55	0.09310	N	1	P;D	0.55385	0.95;0.971	P;P	0.53689	0.544;0.732	T	0.10497	-1.0627	10	0.42905	T	0.14	.	7.3608	0.26745	0.2767:0.0:0.7233:0.0	.	35;35	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	35	ENSP00000375909:S35R;ENSP00000339886:S35R	ENSP00000339886:S35R	S	-	3	2	SPHKAP	228704973	0.993000	0.37304	0.013000	0.15412	0.031000	0.12232	1.715000	0.37971	0.404000	0.25506	0.655000	0.94253	AGC		PASS	0.468	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		11	144	11	144	---	---	---	---
NEU4	129807	broad.mit.edu	37	2	242757900	242757900	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr2:242757900C>A	ENST00000391969.2	+	5	1692	c.981C>A	c.(979-981)ggC>ggA	p.G327G	NEU4_ENST00000404257.1_Silent_p.G339G|NEU4_ENST00000325935.6_Silent_p.G340G|NEU4_ENST00000407683.1_Silent_p.G327G|NEU4_ENST00000405370.1_Silent_p.G327G	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	327	Pro-rich.				ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.G339G(1)		breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCCGTGGAGGCCAGGTGCCTG	0.706																																						uc010fzr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(979-981)GGC>GGA		sialidase 4							11.0	13.0	13.0					2																	242757900		2129	4201	6330	SO:0001819	synonymous_variant	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242757900C>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.981C>A	2.37:g.242757900C>A						NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Silent_p.G327G|NEU4_uc002wcn.1_Silent_p.G339G|NEU4_uc002wco.1_Silent_p.G327G|NEU4_uc002wcp.1_Silent_p.G339G	p.G327G	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	4	1067	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	327			Pro-rich.		A8K056|J3KNJ5|Q96D64	Silent	SNP	ENST00000391969.2	37	c.981C>A	CCDS54442.1																																																																																				PASS	0.706	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		4	15	4	15	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1415727	1415727	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:1415727C>A	ENST00000446702.2	+	16	2692	c.2065C>A	c.(2065-2067)Cca>Aca	p.P689T	CNTN6_ENST00000350110.2_Missense_Mutation_p.P689T|CNTN6_ENST00000539053.1_Missense_Mutation_p.P617T			Q9UQ52	CNTN6_HUMAN	contactin 6	689	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P689T(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACCAAGTGAACCATCAGAATT	0.373																																						uc003boz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2065-2067)CCA>ACA		contactin 6 precursor							128.0	124.0	126.0					3																	1415727		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1415727C>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2065C>A	3.37:g.1415727C>A	ENSP00000407822:p.Pro689Thr					CNTN6_uc011asj.1_Missense_Mutation_p.P617T|CNTN6_uc003bpa.2_Missense_Mutation_p.P689T	p.P689T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	16	2332	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	689			Fibronectin type-III 1.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2065C>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835121	0.50951	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.55052	0.54;0.54;0.54	5.16	1.27	0.21489	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.338789	0.25500	N	0.030246	T	0.51839	0.1698	M	0.82923	2.615	0.50813	D	0.999893	B	0.30851	0.297	B	0.30029	0.11	T	0.51020	-0.8758	10	0.87932	D	0	.	8.2007	0.31424	0.0:0.6258:0.2397:0.1345	.	689	Q9UQ52	CNTN6_HUMAN	T	689;617;689	ENSP00000407822:P689T;ENSP00000442791:P617T;ENSP00000341882:P689T	ENSP00000341882:P689T	P	+	1	0	CNTN6	1390727	0.749000	0.28305	0.984000	0.44739	0.997000	0.91878	1.495000	0.35627	0.007000	0.14760	0.655000	0.94253	CCA		PASS	0.373	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		29	41	29	41	---	---	---	---
WNT7A	7476	broad.mit.edu	37	3	13860570	13860570	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:13860570C>A	ENST00000285018.4	-	4	1225	c.921G>T	c.(919-921)atG>atT	p.M307I		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	307					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.M307I(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GCCCACAGCACATGAGGTCAC	0.647																																						uc003bye.1																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(2)|breast(1)	3						c.(919-921)ATG>ATT		wingless-type MMTV integration site family,							62.0	55.0	58.0					3																	13860570		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13860570C>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.921G>T	3.37:g.13860570C>A	ENSP00000285018:p.Met307Ile						p.M307I	NM_004625	NP_004616	O00755	WNT7A_HUMAN			4	1226	-			307					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.921G>T	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626254	0.87560	.	.	ENSG00000154764	ENST00000285018	T	0.76968	-1.06	4.18	4.18	0.49190	.	0.038032	0.85682	D	0.000000	D	0.84813	0.5555	M	0.80746	2.51	0.80722	D	1	P	0.42871	0.792	P	0.50537	0.643	D	0.88110	0.2825	10	0.87932	D	0	.	16.9039	0.86120	0.0:1.0:0.0:0.0	.	307	O00755	WNT7A_HUMAN	I	307	ENSP00000285018:M307I	ENSP00000285018:M307I	M	-	3	0	WNT7A	13835571	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.802000	0.85969	2.052000	0.61016	0.563000	0.77884	ATG		PASS	0.647	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		28	35	28	35	---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30713392	30713392	+	Silent	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:30713392A>G	ENST00000295754.5	+	4	1099	c.717A>G	c.(715-717)acA>acG	p.T239T	TGFBR2_ENST00000359013.4_Silent_p.T264T	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	239					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.T239T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACCACAACACAGAGCTGCTGC	0.542																																						uc003ceo.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(715-717)ACA>ACG		transforming growth factor, beta receptor II							108.0	86.0	93.0					3																	30713392		2203	4300	6503	SO:0001819	synonymous_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713392A>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.717A>G	3.37:g.30713392A>G						TGFBR2_uc003cen.2_Silent_p.T264T	p.T239T	NM_003242	NP_003233	P37173	TGFR2_HUMAN			4	1099	+			239			Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	ENST00000295754.5	37	c.717A>G	CCDS2648.1																																																																																				PASS	0.542	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			34	34	34	34	---	---	---	---
CCDC13	152206	broad.mit.edu	37	3	42754710	42754710	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:42754710C>T	ENST00000310232.6	-	14	1900	c.1817G>A	c.(1816-1818)cGc>cAc	p.R606H		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	606								p.R606H(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TGGCTCCAGGCGTATCTTCTC	0.617																																						uc003cly.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1816-1818)CGC>CAC		coiled-coil domain containing 13							123.0	110.0	115.0					3																	42754710		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42754710C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1817G>A	3.37:g.42754710C>T	ENSP00000309836:p.Arg606His						p.R606H	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN			14	1901	-			606			Potential.			Missense_Mutation	SNP	ENST00000310232.6	37	c.1817G>A	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330186	0.60743	.	.	ENSG00000244607	ENST00000310232	T	0.12465	2.68	4.99	2.83	0.33086	.	0.235061	0.33834	N	0.004511	T	0.22322	0.0538	M	0.66939	2.045	0.09310	N	1	D	0.57571	0.98	P	0.54100	0.742	T	0.03597	-1.1021	10	0.51188	T	0.08	.	6.6282	0.22841	0.0:0.6306:0.0:0.3694	.	606	Q8IYE1	CCD13_HUMAN	H	606	ENSP00000309836:R606H	ENSP00000309836:R606H	R	-	2	0	CCDC13	42729714	0.637000	0.27216	0.989000	0.46669	0.709000	0.40893	0.841000	0.27613	1.100000	0.41517	0.591000	0.81541	CGC		PASS	0.617	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		39	77	39	77	---	---	---	---
UBA7	7318	broad.mit.edu	37	3	49847489	49847489	+	Silent	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:49847489T>A	ENST00000333486.3	-	14	1919	c.1761A>T	c.(1759-1761)tcA>tcT	p.S587S	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	587					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.S587S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAGCTGCAGCTGAGGCAGGGG	0.602																																						uc003cxr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1759-1761)TCA>TCT		ubiquitin-like modifier activating enzyme 7							70.0	65.0	67.0					3																	49847489		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847489T>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1761A>T	3.37:g.49847489T>A							p.S587S	NM_003335	NP_003326	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	14	1932	-			587					Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.1761A>T	CCDS2805.1																																																																																				PASS	0.602	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		33	43	33	43	---	---	---	---
GNAT1	2779	broad.mit.edu	37	3	50231970	50231970	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:50231970A>G	ENST00000433068.1	+	7	801	c.745A>G	c.(745-747)Atc>Gtc	p.I249V	GNAT1_ENST00000232461.3_Missense_Mutation_p.I249V	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	249					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.I249V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTTCAACAGCATCTGCAACCA	0.592											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cym.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(745-747)ATC>GTC		rod-type transducin alpha subunit							67.0	61.0	63.0					3																	50231970		2203	4300	6503	SO:0001583	missense	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50231970A>G		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.745A>G	3.37:g.50231970A>G	ENSP00000387555:p.Ile249Val		OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	GNAT1_uc003cyl.2_Missense_Mutation_p.I249V	p.I249V	NM_144499	NP_653082	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	7	861	+			249					Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	c.745A>G	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.487728	0.84854	.	.	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.88975	-2.45;-2.45	5.14	3.98	0.46160	.	0.047832	0.85682	N	0.000000	D	0.92645	0.7663	M	0.65975	2.015	0.54753	D	0.999985	D	0.64830	0.994	D	0.85130	0.997	D	0.92047	0.5645	10	0.87932	D	0	.	9.8745	0.41195	0.9178:0.0:0.0822:0.0	.	249	P11488	GNAT1_HUMAN	V	249	ENSP00000232461:I249V;ENSP00000387555:I249V	ENSP00000232461:I249V	I	+	1	0	GNAT1	50206974	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	9.094000	0.94168	0.812000	0.34326	0.459000	0.35465	ATC		PASS	0.592	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		10	29	10	29	---	---	---	---
NEK4	6787	broad.mit.edu	37	3	52777368	52777368	+	Splice_Site	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:52777368C>A	ENST00000233027.5	-	12	2206	c.2004G>T	c.(2002-2004)caG>caT	p.Q668H	NEK4_ENST00000383721.4_Splice_Site_p.Q622H|NEK4_ENST00000535191.1_Splice_Site_p.Q579H	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	668					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q668H(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CGTAATGCACCTGAGTGACGC	0.517																																						uc003dfq.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2002-2004)CAG>CAT		NIMA-related kinase 4							171.0	160.0	163.0					3																	52777368		2203	4300	6503	SO:0001630	splice_region_variant	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52777368C>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2004+1G>T	3.37:g.52777368C>A						NEK4_uc011bej.1_Missense_Mutation_p.Q579H|NEK4_uc003dfr.2_Missense_Mutation_p.Q622H	p.Q668H	NM_003157	NP_003148	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	12	2193	-			668					A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.2004G>T	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952630	0.73787	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.73575	1.52;1.52;-0.76;1.52	4.91	4.91	0.64330	.	0.245028	0.35124	N	0.003424	D	0.83115	0.5184	M	0.72894	2.215	0.52501	D	0.99995	D;D;D	0.76494	0.999;0.996;0.976	P;P;P	0.62491	0.903;0.877;0.635	D	0.84939	0.0864	10	0.66056	D	0.02	.	13.9558	0.64147	0.0:1.0:0.0:0.0	.	579;622;668	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	H	668;579;622;579	ENSP00000233027:Q668H;ENSP00000437703:Q579H;ENSP00000373227:Q622H;ENSP00000419666:Q579H	ENSP00000233027:Q668H	Q	-	3	2	NEK4	52752408	1.000000	0.71417	0.966000	0.40874	0.077000	0.17291	3.814000	0.55643	2.441000	0.82636	0.455000	0.32223	CAG		PASS	0.517	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	Missense_Mutation	68	114	68	114	---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52818337	52818337	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:52818337C>A	ENST00000273283.2	+	11	1275	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L	ITIH1_ENST00000540715.1_Silent_p.L275L|ITIH1_ENST00000542827.1_Silent_p.L417L|ITIH1_ENST00000537050.1_Silent_p.L129L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	417	Hyaluronan-binding.|VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L417L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCCAAATCCTCAAGAACGTCC	0.602																																						uc003dfs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1249-1251)CTC>CTA		inter-alpha (globulin) inhibitor H1							66.0	58.0	61.0					3																	52818337		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52818337C>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1251C>A	3.37:g.52818337C>A						ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.L18L|ITIH1_uc010hmo.1_5'UTR	p.L417L	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	11	1275	+			417			Hyaluronan-binding.|VWFA.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.1251C>A	CCDS2864.1																																																																																				PASS	0.602	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		7	13	7	13	---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64085468	64085468	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:64085468C>A	ENST00000295902.6	-	8	2379	c.1794G>T	c.(1792-1794)caG>caT	p.Q598H	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q654H	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	598					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q598H(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGCTCCGGAACTGCATGGACG	0.547																																						uc003dmf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1792-1794)CAG>CAT		prickle-like 2							137.0	136.0	136.0					3																	64085468		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085468C>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1794G>T	3.37:g.64085468C>A	ENSP00000295902:p.Gln598His						p.Q598H	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2380	-		Lung NSC(201;0.136)	598					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1794G>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975623	0.53720	.	.	ENSG00000163637	ENST00000295902	D	0.89050	-2.46	5.62	4.74	0.60224	.	0.000000	0.64402	D	0.000002	D	0.90587	0.7049	L	0.58101	1.795	0.58432	D	0.999998	D	0.59767	0.986	P	0.53722	0.733	D	0.90038	0.4140	10	0.42905	T	0.14	-31.0041	14.9023	0.70689	0.0:0.9302:0.0:0.0698	.	598	Q7Z3G6	PRIC2_HUMAN	H	598	ENSP00000295902:Q598H	ENSP00000295902:Q598H	Q	-	3	2	PRICKLE2	64060508	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.622000	0.36997	1.354000	0.45846	0.591000	0.81541	CAG		PASS	0.547	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		56	191	56	191	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77626709	77626709	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:77626709G>T	ENST00000461745.1	+	15	3172	c.2272G>T	c.(2272-2274)Gtt>Ttt	p.V758F	ROBO2_ENST00000487694.3_Missense_Mutation_p.V774F|ROBO2_ENST00000332191.8_Missense_Mutation_p.V758F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	758	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V774F(1)|p.V758F(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGTATTAGTGTTTCCTGGGA	0.463																																						uc003dpy.3																			2	Substitution - Missense(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(2272-2274)GTT>TTT		roundabout, axon guidance receptor, homolog 2							92.0	92.0	92.0					3																	77626709		1902	4121	6023	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77626709G>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2272G>T	3.37:g.77626709G>T	ENSP00000417164:p.Val758Phe					ROBO2_uc003dpz.2_Missense_Mutation_p.V762F|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V762F	p.V758F	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	15	2915	+			758			Fibronectin type-III 3.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2272G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270403	0.80469	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.59364	0.27;0.27;0.27	5.66	4.78	0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.169104	0.27691	N	0.018258	T	0.69762	0.3147	M	0.90019	3.08	0.37530	D	0.917875	P;P;P	0.45011	0.848;0.71;0.607	P;P;P	0.52189	0.636;0.692;0.481	T	0.79722	-0.1684	9	0.54805	T	0.06	.	5.4062	0.16323	0.2704:0.0:0.7296:0.0	.	774;758;758	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	F	774;774;778;758;758;479	ENSP00000417335:V774F;ENSP00000417164:V758F;ENSP00000327536:V758F	ENSP00000327536:V758F	V	+	1	0	ROBO2	77709399	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.472000	0.60189	2.667000	0.90743	0.491000	0.48974	GTT		PASS	0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		15	40	15	40	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97251212	97251212	+	Silent	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:97251212A>T	ENST00000514100.1	+	8	629	c.387A>T	c.(385-387)ggA>ggT	p.G129G	EPHA6_ENST00000502694.1_Silent_p.G129G|EPHA6_ENST00000442602.2_Silent_p.G103G|EPHA6_ENST00000389672.5_Silent_p.G737G	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	643	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.G643G(1)|p.G129G(1)|p.G737G(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						GTGAATTTGGAGAAGTCTGTA	0.383																																						uc010how.1																			3	Substitution - coding silent(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2209-2211)GGA>GGT		EPH receptor A6 isoform a							129.0	123.0	125.0					3																	97251212		1820	4097	5917	SO:0001819	synonymous_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97251212A>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.387A>T	3.37:g.97251212A>T						EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Silent_p.G103G|EPHA6_uc003drs.3_Silent_p.G129G|EPHA6_uc003drr.3_Silent_p.G129G|EPHA6_uc003drt.2_Silent_p.G129G|EPHA6_uc010hox.1_RNA	p.G737G	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			11	2254	+			642			ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Silent	SNP	ENST00000514100.1	37	c.2211A>T																																																																																					PASS	0.383	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		52	69	52	69	---	---	---	---
CPOX	1371	broad.mit.edu	37	3	98309859	98309859	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:98309859C>A	ENST00000264193.2	-	2	915	c.697G>T	c.(697-699)Gat>Tat	p.D233Y		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	233					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.D233Y(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GATTTACCATCTTTAGTCTTC	0.358																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	uc003dsx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)GAT>TAT		coproporphyrinogen oxidase precursor							118.0	116.0	117.0					3																	98309859		2203	4300	6503	SO:0001583	missense	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98309859C>A	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.697G>T	3.37:g.98309859C>A	ENSP00000264193:p.Asp233Tyr					CPOX_uc011bgz.1_Missense_Mutation_p.D233Y	p.D233Y	NM_000097	NP_000088	P36551	HEM6_HUMAN			2	790	-			233					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	37	c.697G>T	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844221	0.71488	.	.	ENSG00000080819	ENST00000264193	D	0.93076	-3.16	5.4	4.29	0.51040	.	0.086607	0.85682	D	0.000000	D	0.95878	0.8658	M	0.85945	2.785	0.80722	D	1	D;D	0.63880	0.993;0.986	D;P	0.63597	0.916;0.785	D	0.95264	0.8371	10	0.62326	D	0.03	.	9.4566	0.38758	0.0:0.8664:0.0:0.1336	.	233;233	B4DSD5;P36551	.;HEM6_HUMAN	Y	233	ENSP00000264193:D233Y	ENSP00000264193:D233Y	D	-	1	0	CPOX	99792549	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.620000	0.46410	2.692000	0.91855	0.655000	0.94253	GAT		PASS	0.358	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		13	77	13	77	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100962939	100962939	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:100962939C>G	ENST00000193391.7	-	13	2423	c.2236G>C	c.(2236-2238)Gat>Cat	p.D746H		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	746					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.D746H(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)	TGTTCCATATCCTCCCTTAGG	0.403																																						uc003duq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2236-2238)GAT>CAT		interphotoreceptor matrix proteoglycan 2							114.0	109.0	111.0					3																	100962939		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.chr3:100962939C>G	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.2236G>C	3.37:g.100962939C>G	ENSP00000193391:p.Asp746His					IMPG2_uc011bhe.1_Missense_Mutation_p.D609H	p.D746H	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			13	2439	-			746			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2236G>C	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	8.640	0.895739	0.17686	.	.	ENSG00000081148	ENST00000193391	T	0.20200	2.09	5.88	1.56	0.23342	.	0.652152	0.15285	N	0.270474	T	0.11922	0.0290	L	0.27053	0.805	0.09310	N	1	B;B	0.15719	0.014;0.014	B;B	0.14578	0.011;0.011	T	0.20371	-1.0277	10	0.54805	T	0.06	-3.3558	2.5294	0.04699	0.1375:0.3114:0.3807:0.1705	.	746;746	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	H	746	ENSP00000193391:D746H	ENSP00000193391:D746H	D	-	1	0	IMPG2	102445629	0.002000	0.14202	0.089000	0.20774	0.047000	0.14425	0.262000	0.18460	0.801000	0.34066	0.655000	0.94253	GAT		PASS	0.403	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			42	59	42	59	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121206386	121206386	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:121206386G>A	ENST00000264233.5	-	16	5520	c.5392C>T	c.(5392-5394)Cct>Tct	p.P1798S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1798					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.P1933S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCACTAATAGGGCTGTTGTCT	0.383								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(5392-5394)CCT>TCT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							123.0	119.0	120.0					3																	121206386		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206386G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5392C>T	3.37:g.121206386G>A	ENSP00000264233:p.Pro1798Ser					POLQ_uc003eed.2_Missense_Mutation_p.P970S	p.P1798S	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5521	-			1798					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.5392C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.299183	0.00243	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.48201	0.82	5.52	2.74	0.32292	.	0.683462	0.15222	N	0.273865	T	0.19485	0.0468	N	0.08118	0	0.09310	N	1	B;B	0.16603	0.01;0.018	B;B	0.16722	0.003;0.016	T	0.28170	-1.0052	10	0.06099	T	0.92	.	3.1379	0.06446	0.3783:0.0:0.4406:0.181	.	1798;970	O75417;O75417-2	DPOLQ_HUMAN;.	S	1421;1798;1934	ENSP00000264233:P1798S	ENSP00000264233:P1798S	P	-	1	0	POLQ	122689076	0.353000	0.24904	0.002000	0.10522	0.054000	0.15201	1.183000	0.32041	0.428000	0.26173	0.563000	0.77884	CCT		PASS	0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		45	67	45	67	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121208373	121208373	+	Silent	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:121208373C>T	ENST00000264233.5	-	16	3533	c.3405G>A	c.(3403-3405)gaG>gaA	p.E1135E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1135					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.E1270E(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGACAATATGCTCCACAAAAT	0.353								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3403-3405)GAG>GAA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							102.0	101.0	101.0					3																	121208373		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208373C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3405G>A	3.37:g.121208373C>T						POLQ_uc003eed.2_Silent_p.E307E	p.E1135E	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3534	-			1135					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.3405G>A	CCDS33833.1																																																																																				PASS	0.353	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		4	114	4	114	---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123166600	123166600	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:123166600G>T	ENST00000462833.1	-	1	2005	c.793C>A	c.(793-795)Ccg>Acg	p.P265T		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	265					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.P265T(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGCTGGAGCGGGGGCCGCGCC	0.672																																						uc003egh.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(793-795)CCG>ACG		adenylate cyclase 5							22.0	25.0	24.0					3																	123166600		2198	4292	6490	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123166600G>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.793C>A	3.37:g.123166600G>T	ENSP00000419361:p.Pro265Thr						p.P265T	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	1	793	-			265					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.793C>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	6.211	0.407100	0.11754	.	.	ENSG00000173175	ENST00000462833	T	0.76186	-1.0	4.91	4.0	0.46444	.	0.688433	0.13366	N	0.393306	T	0.65770	0.2723	L	0.44542	1.39	0.47737	D	0.999503	B	0.02656	0.0	B	0.06405	0.002	T	0.55736	-0.8094	10	0.17832	T	0.49	.	12.5467	0.56203	0.0:0.0:0.8331:0.1669	.	265	O95622	ADCY5_HUMAN	T	265	ENSP00000419361:P265T	ENSP00000419361:P265T	P	-	1	0	ADCY5	124649290	0.994000	0.37717	0.948000	0.38648	0.967000	0.64934	2.196000	0.42686	1.005000	0.39183	0.505000	0.49811	CCG		PASS	0.672	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		21	25	21	25	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130289907	130289907	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:130289907G>T	ENST00000358511.6	+	6	2678	c.2647G>T	c.(2647-2649)Ggt>Tgt	p.G883C	COL6A6_ENST00000453409.2_Missense_Mutation_p.G883C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	883	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G883C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAAGCCATGGGTGGCAGTAC	0.532																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2647-2649)GGT>TGT		collagen type VI alpha 6 precursor							49.0	51.0	50.0					3																	130289907		1909	4127	6036	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130289907G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2647G>T	3.37:g.130289907G>T	ENSP00000351310:p.Gly883Cys						p.G883C	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2678	+			883			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2647G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752665	0.31046	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82619	-1.63;-1.63	4.87	4.87	0.63330	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000016	D	0.90321	0.6972	M	0.87456	2.885	0.09310	N	0.999995	D	0.76494	0.999	D	0.70935	0.971	D	0.83477	0.0062	10	0.87932	D	0	.	8.3482	0.32286	0.0832:0.0:0.7599:0.1569	.	883	A6NMZ7	CO6A6_HUMAN	C	883	ENSP00000351310:G883C;ENSP00000399236:G883C	ENSP00000351310:G883C	G	+	1	0	COL6A6	131772597	0.398000	0.25279	1.000000	0.80357	0.373000	0.29922	1.875000	0.39578	2.424000	0.82194	0.561000	0.74099	GGT		PASS	0.532	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		16	20	16	20	---	---	---	---
MRPL3	11222	broad.mit.edu	37	3	131208878	131208878	+	Missense_Mutation	SNP	G	G	A	rs148638602		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:131208878G>A	ENST00000264995.3	-	5	662	c.515C>T	c.(514-516)cCg>cTg	p.P172L	MRPL3_ENST00000425847.2_Missense_Mutation_p.P199L|MRPL3_ENST00000506946.1_5'UTR	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	172					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.P172L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGTCTGTTTCGGCGGCAATCC	0.353																																						uc003eoh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)CCG>CTG		mitochondrial ribosomal protein L3		G	LEU/PRO	3,4403	6.2+/-15.9	0,3,2200	73.0	73.0	73.0		515	5.2	1.0	3	dbSNP_134	73	0,8600		0,0,4300	no	missense	MRPL3	NM_007208.3	98	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	172/349	131208878	3,13003	2203	4300	6503	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131208878G>A	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.515C>T	3.37:g.131208878G>A	ENSP00000264995:p.Pro172Leu					MRPL3_uc011blo.1_Missense_Mutation_p.P67L|MRPL3_uc011blp.1_Missense_Mutation_p.P199L	p.P172L	NM_007208	NP_009139	P09001	RM03_HUMAN			5	679	-			172					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.515C>T	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146697	0.77888	6.81E-4	0.0	ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000507669;ENST00000512877	T;T;T;T	0.47528	1.87;1.87;1.87;0.84	5.25	5.25	0.73442	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.103006	0.64402	D	0.000002	T	0.68906	0.3052	M	0.85041	2.73	0.80722	D	1	P;D	0.76494	0.943;0.999	P;D	0.68483	0.776;0.958	T	0.72697	-0.4215	10	0.54805	T	0.06	-9.6702	11.837	0.52330	0.0854:0.0:0.9146:0.0	.	199;172	E7ETU7;P09001	.;RM03_HUMAN	L	172;199;67;139	ENSP00000264995:P172L;ENSP00000398536:P199L;ENSP00000422419:P67L;ENSP00000422035:P139L	ENSP00000264995:P172L	P	-	2	0	MRPL3	132691568	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.536000	0.60636	2.451000	0.82905	0.462000	0.41574	CCG		PASS	0.353	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		23	32	23	32	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147130324	147130324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:147130324C>A	ENST00000282928.4	+	2	1731	c.1002C>A	c.(1000-1002)tgC>tgA	p.C334*		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	334					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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)	p.C334*(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCTTCAAGTGCGAGTTTGAGG	0.493																																						uc003ewe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1000-1002)TGC>TGA		zinc finger protein of the cerebellum 1							77.0	71.0	73.0					3																	147130324		2203	4300	6503	SO:0001587	stop_gained	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130324C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1002C>A	3.37:g.147130324C>A	ENSP00000282928:p.Cys334*						p.C334*	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			2	1721	+			334			C2H2-type 4.		Q2M3N1	Nonsense_Mutation	SNP	ENST00000282928.4	37	c.1002C>A	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.658781|3.658781	0.67586|0.67586	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000488404|ENST00000282928	.|.	.|.	.|.	3.89|3.89	0.785|0.785	0.18584|0.18584	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|.	0.14313|.	0.0346|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35549|.	-0.9784|.	3|.	.|0.02654	.|T	.|1	.|.	5.6105|5.6105	0.17402|0.17402	0.0:0.368:0.0:0.632|0.0:0.368:0.0:0.632	.|.	.|.	.|.	.|.	E|X	23|334	.|.	.|ENSP00000282928:C334X	A|C	+|+	2|3	0|2	ZIC1|ZIC1	148613014|148613014	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.269000|1.269000	0.33074|0.33074	0.324000|0.324000	0.23333|0.23333	0.462000|0.462000	0.41574|0.41574	GCG|TGC		PASS	0.493	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		20	55	20	55	---	---	---	---
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606684	159606684	+	Missense_Mutation	SNP	A	A	G	rs373474163		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:159606684A>G	ENST00000460298.1	+	6	1391	c.1150A>G	c.(1150-1152)Att>Gtt	p.I384V	IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.I500V|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.I473V|SCHIP1_ENST00000482804.1_Missense_Mutation_p.I197V|SCHIP1_ENST00000445224.2_Missense_Mutation_p.I181V|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.I411V|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.I424V|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.I192V					IQCJ-SCHIP1 readthrough									p.I424V(1)|p.I500V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGACATGACTATTGGGCAGCT	0.378																																						uc003fcs.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1270-1272)ATT>GTT		schwannomin interacting protein 1							141.0	129.0	134.0					3																	159606684		2203	4300	6503	SO:0001583	missense	29970					cytoplasm	identical protein binding|protein binding	g.chr3:159606684A>G		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.1150A>G	3.37:g.159606684A>G	ENSP00000417305:p.Ile384Val					SCHIP1_uc003fcq.1_Missense_Mutation_p.I500V|SCHIP1_uc003fcr.1_Missense_Mutation_p.I413V|SCHIP1_uc003fct.1_Missense_Mutation_p.I411V|SCHIP1_uc010hvz.1_Missense_Mutation_p.I384V|SCHIP1_uc003fcu.1_Missense_Mutation_p.I181V|SCHIP1_uc003fcv.1_Missense_Mutation_p.I197V	p.I424V	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		6	1336	+			424			Potential.			Missense_Mutation	SNP	ENST00000460298.1	37	c.1270A>G		.	.	.	.	.	.	.	.	.	.	A	1.563	-0.536287	0.04082	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.61	-2.82	0.05787	.	0.377451	0.29767	N	0.011257	T	0.15392	0.0371	N	0.04746	-0.17	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.002;0.0;0.001;0.001;0.001	B;B;B;B;B;B	0.14578	0.003;0.011;0.0;0.003;0.004;0.003	T	0.20240	-1.0281	10	0.17369	T	0.5	.	6.6435	0.22923	0.4635:0.3529:0.1835:0.0	.	384;197;181;411;424;500	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	V	473;500;424;411;192;384;181;197	ENSP00000418692:I473V;ENSP00000420182:I500V;ENSP00000337239:I424V;ENSP00000400942:I411V;ENSP00000436076:I192V;ENSP00000417305:I384V;ENSP00000404860:I181V;ENSP00000419230:I197V	ENSP00000337239:I424V	I	+	1	0	SCHIP1;IQCJ-SCHIP1	161089378	0.583000	0.26757	0.001000	0.08648	0.980000	0.70556	1.338000	0.33873	-0.655000	0.05387	0.533000	0.62120	ATT		PASS	0.378	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		33	63	33	63	---	---	---	---
SI	6476	broad.mit.edu	37	3	164757675	164757675	+	Splice_Site	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:164757675C>A	ENST00000264382.3	-	19	2306	c.2244G>T	c.(2242-2244)caG>caT	p.Q748H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	748	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.Q748H(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAGAGCCTACCTGTTTTAGAA	0.368										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2242-2244)CAG>CAT		sucrase-isomaltase	Acarbose(DB00284)						98.0	103.0	101.0					3																	164757675		2203	4300	6503	SO:0001630	splice_region_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164757675C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2244+1G>T	3.37:g.164757675C>A		HNSCC(35;0.089)					p.Q748H	NM_001041	NP_001032	P14410	SUIS_HUMAN			19	2306	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	748			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2244G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	7.151	0.583826	0.13749	.	.	ENSG00000090402	ENST00000264382	D	0.91686	-2.89	4.81	1.79	0.24919	.	0.524513	0.21278	N	0.077181	D	0.90086	0.6903	M	0.85197	2.74	0.30629	N	0.75766	B	0.13594	0.008	B	0.13407	0.009	D	0.83701	0.0182	9	.	.	.	.	5.4956	0.16802	0.2792:0.5698:0.0:0.151	.	748	P14410	SUIS_HUMAN	H	748	ENSP00000264382:Q748H	.	Q	-	3	2	SI	166240369	1.000000	0.71417	0.073000	0.20177	0.136000	0.21042	1.292000	0.33342	0.590000	0.29694	0.644000	0.83932	CAG		PASS	0.368	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Missense_Mutation	57	86	57	86	---	---	---	---
SI	6476	broad.mit.edu	37	3	164764763	164764763	+	Missense_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:164764763T>A	ENST00000264382.3	-	16	1815	c.1753A>T	c.(1753-1755)Att>Ttt	p.I585F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	585	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.I585F(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CGGGTAAGAATGAAGCTTCTC	0.323										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1753-1755)ATT>TTT		sucrase-isomaltase	Acarbose(DB00284)						63.0	62.0	62.0					3																	164764763		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164764763T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1753A>T	3.37:g.164764763T>A	ENSP00000264382:p.Ile585Phe	HNSCC(35;0.089)					p.I585F	NM_001041	NP_001032	P14410	SUIS_HUMAN			16	1815	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	585			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1753A>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559679	0.65538	.	.	ENSG00000090402	ENST00000264382	D	0.92911	-3.13	5.36	4.18	0.49190	Glycoside hydrolase, superfamily (1);	0.158419	0.56097	D	0.000040	D	0.96262	0.8781	H	0.95780	3.72	0.42825	D	0.994002	D	0.76494	0.999	D	0.71656	0.974	D	0.95755	0.8795	10	0.87932	D	0	.	5.1974	0.15245	0.0:0.1617:0.1675:0.6708	.	585	P14410	SUIS_HUMAN	F	585	ENSP00000264382:I585F	ENSP00000264382:I585F	I	-	1	0	SI	166247457	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	1.913000	0.39956	2.037000	0.60232	0.383000	0.25322	ATT		PASS	0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		18	60	18	60	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167248976	167248976	+	Silent	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:167248976C>T	ENST00000308378.3	-	9	1394	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	WDR49_ENST00000476376.1_Silent_p.E188E|WDR49_ENST00000453925.2_Silent_p.E427E|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	363								p.E363E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAGTGTCAATCTCAAAGTTGC	0.423																																						uc003fev.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1087-1089)GAG>GAA		WD repeat domain 49							87.0	91.0	90.0					3																	167248976		2203	4300	6503	SO:0001819	synonymous_variant	151790							g.chr3:167248976C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1089G>A	3.37:g.167248976C>T						WDR49_uc003feu.1_Silent_p.E188E|WDR49_uc011bpd.1_Silent_p.E427E|WDR49_uc003few.1_Intron	p.E363E	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			9	1395	-			363					Q8N297	Silent	SNP	ENST00000308378.3	37	c.1089G>A	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	C	2.876	-0.232813	0.05983	.	.	ENSG00000174776	ENST00000472600;ENST00000493061	.	.	.	5.68	-0.741	0.11112	.	.	.	.	.	T	0.20577	0.0495	.	.	.	0.21652	N	0.999604	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	.	2.1188	0.03721	0.2491:0.2366:0.3655:0.1488	.	.	.	.	K	439;1	.	.	R	-	2	0	WDR49	168731670	0.016000	0.18221	0.000000	0.03702	0.008000	0.06430	0.158000	0.16422	-0.193000	0.10415	-0.181000	0.13052	AGA		PASS	0.423	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		25	72	25	72	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172642054	172642054	+	Missense_Mutation	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:172642054T>C	ENST00000351008.3	-	8	1465	c.1282A>G	c.(1282-1284)Aca>Gca	p.T428A		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	428					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.T428A(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTCCCCATTGTCTCCATTTGC	0.338																																						uc003fin.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1282-1284)ACA>GCA		spermatogenesis associated 16							121.0	119.0	120.0					3																	172642054		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172642054T>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1282A>G	3.37:g.172642054T>C	ENSP00000341765:p.Thr428Ala						p.T428A	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		8	1440	-	Ovarian(172;0.00319)|Breast(254;0.197)		428					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1282A>G	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.124442	0.56613	.	.	ENSG00000144962	ENST00000351008	T	0.21031	2.03	5.81	4.65	0.58169	.	0.258235	0.34178	N	0.004190	T	0.16854	0.0405	L	0.32530	0.975	0.25857	N	0.98388	B	0.12013	0.005	B	0.11329	0.006	T	0.16158	-1.0412	10	0.66056	D	0.02	-0.023	10.1237	0.42637	0.0:0.0763:0.0:0.9237	.	428	Q9BXB7	SPT16_HUMAN	A	428	ENSP00000341765:T428A	ENSP00000341765:T428A	T	-	1	0	SPATA16	174124748	0.884000	0.30299	0.990000	0.47175	0.948000	0.59901	2.847000	0.48270	1.027000	0.39758	0.455000	0.32223	ACA		PASS	0.338	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		49	68	49	68	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173997368	173997368	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:173997368G>T	ENST00000457714.1	+	6	2006	c.1577G>T	c.(1576-1578)tGc>tTc	p.C526F	NLGN1_ENST00000361589.4_Missense_Mutation_p.C526F|NLGN1_ENST00000545397.1_Missense_Mutation_p.C526F|NLGN1_ENST00000401917.3_Missense_Mutation_p.C566F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	543					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.C526F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTATTTCCTTGCAATTTCTCC	0.433																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1576-1578)TGC>TTC		neuroligin 1							54.0	53.0	53.0					3																	173997368		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997368G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1577G>T	3.37:g.173997368G>T	ENSP00000392500:p.Cys526Phe					NLGN1_uc010hww.1_Missense_Mutation_p.C566F|NLGN1_uc003fip.1_Missense_Mutation_p.C526F	p.C526F	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	2000	+	Ovarian(172;0.0025)		543			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1577G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591538	0.66219	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	N	0.16201	0.385	0.80722	D	1	D;D	0.65815	0.992;0.995	D;D	0.63957	0.92;0.918	T	0.49781	-0.8903	10	0.20046	T	0.44	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	566;526	D2X2H5;Q8N2Q7-2	.;.	F	526;526;526;566	ENSP00000392500:C526F;ENSP00000354541:C526F;ENSP00000441108:C526F;ENSP00000385750:C566F	ENSP00000354541:C526F	C	+	2	0	NLGN1	175480062	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGC		PASS	0.433	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		3	51	3	51	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183822014	183822014	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:183822014G>C	ENST00000415389.2	+	4	790	c.324G>C	c.(322-324)gaG>gaC	p.E108D	HTR3E_ENST00000440596.2_Missense_Mutation_p.E108D|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.E108D|HTR3E_ENST00000335304.2_Missense_Mutation_p.E123D|HTR3E_ENST00000425359.2_Missense_Mutation_p.E93D	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	108					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.E123D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGGAATGTGAGGGCATCACGA	0.483																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(322-324)GAG>GAC		5-hydroxytryptamine receptor 3 subunit E							64.0	54.0	57.0					3																	183822014		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183822014G>C	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.324G>C	3.37:g.183822014G>C	ENSP00000401444:p.Glu108Asp					HTR3E_uc003fml.3_Missense_Mutation_p.E93D|HTR3E_uc003fmm.2_Missense_Mutation_p.E123D|HTR3E_uc010hxr.2_Missense_Mutation_p.E108D|HTR3E_uc003fmn.2_Missense_Mutation_p.E108D	p.E108D	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		4	790	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		108			Extracellular (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.324G>C	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	2.886	-0.230760	0.05983	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000431041;ENST00000436361;ENST00000440596	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	3.46	1.65	0.23941	Neurotransmitter-gated ion-channel ligand-binding (3);	0.686906	0.11529	U	0.554861	T	0.54143	0.1840	N	0.10945	0.07	0.20563	N	0.999886	B;B;B;P;B	0.35456	0.002;0.415;0.362;0.502;0.362	B;B;B;B;B	0.35971	0.005;0.215;0.18;0.18;0.088	T	0.43327	-0.9398	10	0.07482	T	0.82	.	7.6241	0.28202	0.2192:0.0:0.7808:0.0	.	108;108;108;123;93	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	D	108;93;123;37;108;108	ENSP00000401444:E108D;ENSP00000401900:E93D;ENSP00000335511:E123D;ENSP00000391254:E37D;ENSP00000395833:E108D;ENSP00000406050:E108D	ENSP00000335511:E123D	E	+	3	2	HTR3E	185304708	0.002000	0.14202	0.013000	0.15412	0.247000	0.25773	-1.162000	0.03141	0.286000	0.22352	-0.133000	0.14855	GAG		PASS	0.483	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		3	30	3	30	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186947550	186947550	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:186947550A>G	ENST00000337774.5	-	11	1828	c.1439T>C	c.(1438-1440)cTa>cCa	p.L480P		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	480	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.L480P(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTCCCTACCTAGAAGGGAGCC	0.552																																						uc003frh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|liver(1)	4						c.(1438-1440)CTA>CCA		mannan-binding lectin serine protease 1 isoform							53.0	50.0	51.0					3																	186947550		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186947550A>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1439T>C	3.37:g.186947550A>G	ENSP00000336792:p.Leu480Pro						p.L480P	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	1771	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		480			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1439T>C	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011979	0.75046	.	.	ENSG00000127241	ENST00000337774	D	0.94417	-3.42	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.97473	0.9173	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98212	1.0473	9	0.87932	D	0	.	13.9024	0.63812	1.0:0.0:0.0:0.0	.	480	P48740	MASP1_HUMAN	P	480	ENSP00000336792:L480P	ENSP00000336792:L480P	L	-	2	0	MASP1	188430244	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	6.112000	0.71547	2.228000	0.72767	0.533000	0.62120	CTA		PASS	0.552	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		13	24	13	24	---	---	---	---
HRASLS	57110	broad.mit.edu	37	3	192980878	192980878	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr3:192980878G>T	ENST00000602513.1	+	3	668	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	HRASLS_ENST00000264735.2_Missense_Mutation_p.D192Y			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	87					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)	p.D87Y(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|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;0.000159)		CAATAAATACGATGAAACGTA	0.433																																						uc003fta.2																			1	Substitution - Missense(1)		lung(1)		0						c.(259-261)GAT>TAT		HRAS-like suppressor							151.0	152.0	152.0					3																	192980878		2203	4300	6503	SO:0001583	missense	57110							g.chr3:192980878G>T	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.259G>T	3.37:g.192980878G>T	ENSP00000473258:p.Asp87Tyr						p.D87Y	NM_020386	NP_065119	Q9HDD0	HRSL1_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;0.000159)	3	664	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		87					D2KX19	Missense_Mutation	SNP	ENST00000602513.1	37	c.259G>T		.	.	.	.	.	.	.	.	.	.	G	20.5	3.996292	0.74818	.	.	ENSG00000127252	ENST00000264735	.	.	.	6.17	6.17	0.99709	NC (1);	0.000000	0.85682	D	0.000000	D	0.87462	0.6183	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89274	0.3607	9	0.87932	D	0	1.0076	19.8676	0.96824	0.0:0.0:1.0:0.0	.	87	Q9HDD0	HRSL1_HUMAN	Y	87	.	ENSP00000264735:D87Y	D	+	1	0	HRASLS	194463572	1.000000	0.71417	0.857000	0.33713	0.485000	0.33311	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.433	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				35	81	35	81	---	---	---	---
PDE6B	5158	broad.mit.edu	37	4	619461	619461	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:619461C>A	ENST00000496514.1	+	1	67	c.46C>A	c.(46-48)Ccc>Acc	p.P16T	PDE6B_ENST00000255622.6_Missense_Mutation_p.P16T			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	16					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.P16T(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	ggaccagaaccccgattttgc	0.657																																					GBM(71;463 1194 9848 25922 46834)	uc003gap.2																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)CCC>ACC		phosphodiesterase 6B isoform 1							65.0	69.0	68.0					4																	619461		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619461C>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.46C>A	4.37:g.619461C>A	ENSP00000420295:p.Pro16Thr					PDE6B_uc003gao.3_Missense_Mutation_p.P16T	p.P16T	NM_000283	NP_000274	P35913	PDE6B_HUMAN			1	99	+			16					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.46C>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079286	0.55753	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.65364	-0.15;-0.15	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	M	0.83223	2.63	0.80722	D	1	D;D	0.59767	0.975;0.986	P;P	0.61201	0.77;0.885	T	0.81831	-0.0752	10	0.59425	D	0.04	.	15.7244	0.77743	0.0:1.0:0.0:0.0	.	16;16	P35913;P35913-2	PDE6B_HUMAN;.	T	16	ENSP00000255622:P16T;ENSP00000420295:P16T	ENSP00000255622:P16T	P	+	1	0	PDE6B	609461	1.000000	0.71417	0.996000	0.52242	0.027000	0.11550	7.102000	0.77005	2.326000	0.78906	0.561000	0.74099	CCC		PASS	0.657	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		7	86	7	86	---	---	---	---
GAK	2580	broad.mit.edu	37	4	843832	843832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:843832C>A	ENST00000314167.4	-	27	3792	c.3682G>T	c.(3682-3684)Gag>Tag	p.E1228*	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.E1149*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1228					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E1228*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATGTTCCGCTCCTTGCCCTCA	0.692																																						uc003gbm.3																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|central_nervous_system(1)|skin(1)	4						c.(3682-3684)GAG>TAG		cyclin G associated kinase							22.0	21.0	21.0					4																	843832		2200	4298	6498	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:843832C>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3682G>T	4.37:g.843832C>A	ENSP00000314499:p.Glu1228*					GAK_uc003gbn.3_Nonsense_Mutation_p.E1149*|GAK_uc003gbk.3_Nonsense_Mutation_p.E25*|GAK_uc010ibi.2_Nonsense_Mutation_p.E453*|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Nonsense_Mutation_p.E1081*	p.E1228*	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	27	3881	-			1228					Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3682G>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.090754|4.090754	0.76756|0.76756	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	.|.	.|.	.|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.058941|.	0.64402|.	D|.	0.000003|.	.|T	.|0.66107	.|0.2756	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70753	.|-0.4786	.|3	0.44086|.	T|.	0.13|.	-37.608|-37.608	15.3338|15.3338	0.74234|0.74234	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	504;1228;1149|383	.|.	ENSP00000314499:E1228X|.	E|R	-|-	1|3	0|2	GAK|GAK	833832|833832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.165000|0.165000	0.22458|0.22458	7.591000|7.591000	0.82666|0.82666	2.268000|2.268000	0.75426|0.75426	0.542000|0.542000	0.68232|0.68232	GAG|AGG		PASS	0.692	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		11	11	11	11	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5699345	5699345	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:5699345C>A	ENST00000344408.5	-	2	311	c.258G>T	c.(256-258)gtG>gtT	p.V86V	EVC2_ENST00000344938.1_Silent_p.V86V|EVC2_ENST00000310917.2_Silent_p.V6V	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	86					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V86V(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GACAGCATTCCACTTTGGGCC	0.398																																						uc003gij.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(256-258)GTG>GTT		limbin							119.0	108.0	112.0					4																	5699345		2203	4300	6503	SO:0001819	synonymous_variant	132884					integral to membrane		g.chr4:5699345C>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.258G>T	4.37:g.5699345C>A						EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Silent_p.V6V	p.V86V	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			2	312	-			86					Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	c.258G>T	CCDS3382.2																																																																																				PASS	0.398	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		4	40	4	40	---	---	---	---
TADA2B	93624	broad.mit.edu	37	4	7056326	7056326	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:7056326G>C	ENST00000310074.7	+	2	997	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	TADA2B_ENST00000515646.1_Missense_Mutation_p.E178Q|TADA2B_ENST00000512388.1_Missense_Mutation_p.E195Q	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	270					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E270Q(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GTCATGCAAGGAGTTTGATGA	0.517																																						uc003gjw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)GAG>CAG		transcriptional adaptor 2 (ADA2 homolog,							40.0	46.0	44.0					4																	7056326		2056	4186	6242	SO:0001583	missense	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056326G>C	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.808G>C	4.37:g.7056326G>C	ENSP00000308022:p.Glu270Gln					TADA2B_uc010idi.2_Missense_Mutation_p.E195Q	p.E270Q	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN			2	959	+			270					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	ENST00000310074.7	37	c.808G>C	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046767	0.75846	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	T;T;T	0.47177	0.85;0.85;0.85	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	L	0.38692	1.165	0.80722	D	1	P;D	0.53312	0.949;0.959	P;P	0.53593	0.73;0.625	T	0.54549	-0.8277	10	0.49607	T	0.09	-46.6096	18.2471	0.89989	0.0:0.0:1.0:0.0	.	195;270	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	Q	270;195;178	ENSP00000308022:E270Q;ENSP00000423947:E195Q;ENSP00000423181:E178Q	ENSP00000308022:E270Q	E	+	1	0	TADA2B	7107227	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.135000	0.77276	2.307000	0.77673	0.561000	0.74099	GAG		PASS	0.517	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		3	46	3	46	---	---	---	---
CPZ	8532	broad.mit.edu	37	4	8602955	8602955	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:8602955G>T	ENST00000360986.4	+	3	401	c.227G>T	c.(226-228)aGc>aTc	p.S76I	CPZ_ENST00000315782.6_Missense_Mutation_p.S65I|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000429646.2_5'Flank|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	76	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S76I(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGGAGGCCAGCTCCGAGTAC	0.647																																						uc003glm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(226-228)AGC>ATC		carboxypeptidase Z isoform 1							68.0	58.0	61.0					4																	8602955		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8602955G>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.227G>T	4.37:g.8602955G>T	ENSP00000354255:p.Ser76Ile					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.S65I|CPZ_uc003glp.2_RNA	p.S76I	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			3	353	+			76			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.227G>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337494	0.81911	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.76316	-1.01;-1.01	3.59	3.59	0.41128	Frizzled domain (5);	0.053785	0.85682	D	0.000000	D	0.88496	0.6452	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.981;0.994	D	0.91020	0.4856	10	0.87932	D	0	-40.601	15.3991	0.74823	0.0:0.0:1.0:0.0	.	65;76	Q66K79-2;Q66K79	.;CBPZ_HUMAN	I	76;65	ENSP00000354255:S76I;ENSP00000315074:S65I	ENSP00000315074:S65I	S	+	2	0	CPZ	8653855	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.571000	0.90752	1.810000	0.52873	0.561000	0.74099	AGC		PASS	0.647	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		31	37	31	37	---	---	---	---
USP17L9P	391627	broad.mit.edu	37	4	9361052	9361052	+	IGR	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:9361052T>C								USP17L29 (4096 upstream) : USP17L30 (3802 downstream)																							ACATGACTTCTTGTCTATGTC	0.463																																						uc011bwn.1																			0					0								ubiquitin specific peptidase 17							41.0	80.0	72.0					4																	9361052		147	582	729	SO:0001628	intergenic_variant	391627							g.chr4:9361052T>C																													4.37:g.9361052T>C								NM_001105662	NP_001099132					1		+									RNA	SNP		37	c.944T>C																																																																																				0	PASS	0.463									17	192	17	192	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46312252	46312252	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:46312252C>T	ENST00000510861.1	-	6	670	c.497G>A	c.(496-498)tGc>tAc	p.C166Y	GABRA2_ENST00000514090.1_Missense_Mutation_p.C166Y|GABRA2_ENST00000356504.1_Missense_Mutation_p.C166Y|GABRA2_ENST00000515082.1_Missense_Mutation_p.C166Y|GABRA2_ENST00000381620.4_Missense_Mutation_p.C166Y|GABRA2_ENST00000540012.1_Missense_Mutation_p.C111Y|GABRA2_ENST00000507069.1_Missense_Mutation_p.C166Y			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	166					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.C166Y(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)	GTGCATTGGGCATTCAGCTTG	0.378																																						uc003gxc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(496-498)TGC>TAC		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)						133.0	130.0	131.0					4																	46312252		2203	4300	6503	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.chr4:46312252C>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.497G>A	4.37:g.46312252C>T	ENSP00000421828:p.Cys166Tyr					GABRA2_uc010igc.2_Missense_Mutation_p.C166Y|GABRA2_uc011bzc.1_Missense_Mutation_p.C111Y|GABRA2_uc003gxe.2_Missense_Mutation_p.C166Y	p.C166Y	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			5	1170	-			166			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.497G>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824506	0.90955	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72	5.9	5.9	0.94986	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	H	0.98178	4.165	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.992;0.986;0.999	D	0.98652	1.0680	10	0.87932	D	0	.	19.2671	0.93993	0.0:1.0:0.0:0.0	.	111;166;166	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	Y	166;166;166;166;111;166;166	ENSP00000421828:C166Y;ENSP00000421300:C166Y;ENSP00000371033:C166Y;ENSP00000348897:C166Y;ENSP00000444409:C111Y;ENSP00000427603:C166Y;ENSP00000423840:C166Y	ENSP00000348897:C166Y	C	-	2	0	GABRA2	46007009	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.800000	0.85949	2.788000	0.95919	0.650000	0.86243	TGC		PASS	0.378	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			22	91	22	91	---	---	---	---
COX7B2	170712	broad.mit.edu	37	4	46737132	46737132	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:46737132G>C	ENST00000396533.1	-	4	328	c.78C>G	c.(76-78)agC>agG	p.S26R	COX7B2_ENST00000355591.3_Missense_Mutation_p.S26R|COX7B2_ENST00000302930.5_Missense_Mutation_p.S26R|COX7B2_ENST00000543208.1_Missense_Mutation_p.S25R			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	26						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.S25R(1)		large_intestine(1)|lung(4)	5						GTTTTACATGGCTATGTCTTG	0.438																																						uc003gxf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)AGC>AGG		cytochrome c oxidase subunit VIIb2 precursor							173.0	150.0	158.0					4																	46737132		2203	4300	6503	SO:0001583	missense	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46737132G>C	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.78C>G	4.37:g.46737132G>C	ENSP00000379784:p.Ser26Arg					COX7B2_uc010ige.2_RNA	p.S26R	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN			3	258	-			26			Mitochondrial matrix (By similarity).		Q32Q40	Missense_Mutation	SNP	ENST00000396533.1	37	c.78C>G	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	G	1.734	-0.493323	0.04322	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208;ENST00000505102	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.22	-8.17	0.01057	Cytochrome C oxidase, subunit VIIB, domain (1);	1.016690	0.07831	N	0.961402	T	0.21427	0.0516	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.24835	-1.0149	9	0.56958	D	0.05	-4.7575	0.4725	0.00534	0.3698:0.1925:0.1338:0.304	.	26	Q8TF08	CX7B2_HUMAN	R	26;26;26;25;26	ENSP00000347799:S26R;ENSP00000379784:S26R;ENSP00000305964:S26R;ENSP00000437439:S25R;ENSP00000423519:S26R	ENSP00000305964:S26R	S	-	3	2	COX7B2	46431889	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.867000	0.04241	-2.264000	0.00689	-0.291000	0.09656	AGC		PASS	0.438	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1	NM_130902		6	101	6	101	---	---	---	---
COMMD8	54951	broad.mit.edu	37	4	47462294	47462294	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:47462294C>T	ENST00000381571.4	-	2	156	c.89G>A	c.(88-90)gGc>gAc	p.G30D		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	30								p.G30D(1)		large_intestine(2)|lung(5)|prostate(1)	8						ACCACAAATGCCATCAATTAT	0.313																																						uc003gxi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)GGC>GAC		COMM domain containing 8							74.0	70.0	71.0					4																	47462294		2203	4300	6503	SO:0001583	missense	54951						protein binding	g.chr4:47462294C>T	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.89G>A	4.37:g.47462294C>T	ENSP00000370984:p.Gly30Asp						p.G30D	NM_017845	NP_060315	Q9NX08	COMD8_HUMAN			2	97	-			30					Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	c.89G>A	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317504	0.81469	.	.	ENSG00000169019	ENST00000381571	T	0.08720	3.06	5.81	5.81	0.92471	.	0.089869	0.85682	D	0.000000	T	0.28499	0.0705	M	0.72894	2.215	0.58432	D	0.999998	D	0.64830	0.994	D	0.63793	0.918	T	0.00092	-1.2082	10	0.52906	T	0.07	-15.8	18.8548	0.92247	0.0:1.0:0.0:0.0	.	30	Q9NX08	COMD8_HUMAN	D	30	ENSP00000370984:G30D	ENSP00000370984:G30D	G	-	2	0	COMMD8	47157051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.126000	0.57937	2.756000	0.94617	0.655000	0.94253	GGC		PASS	0.313	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		7	50	7	50	---	---	---	---
NFXL1	152518	broad.mit.edu	37	4	47857075	47857075	+	Splice_Site	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:47857075C>A	ENST00000507489.1	-	20	2598		c.e20+1		NFXL1_ENST00000381538.3_Splice_Site	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1							integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AAAATATTTACCTTTTTTATT	0.308																																						uc010igh.2																			1	Unknown(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.e20+1		nuclear transcription factor, X-box binding-like							43.0	45.0	44.0					4																	47857075		2198	4289	6487	SO:0001630	splice_region_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47857075C>A	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2421+1G>T	4.37:g.47857075C>A						NFXL1_uc003gxo.2_Splice_Site_p.K132_splice|NFXL1_uc003gxp.2_Splice_Site_p.K807_splice|NFXL1_uc003gxq.3_Splice_Site|NFXL1_uc010igi.2_Splice_Site_p.K807_splice	p.K807_splice	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			20	2598	-								B1Q2K1|Q86VG1|Q8WVH1	Splice_Site	SNP	ENST00000507489.1	37	c.2421_splice	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487820	0.84854	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1352	0.98024	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFXL1	47551832	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.034000	0.70933	2.864000	0.98301	0.549000	0.68633	.		PASS	0.308	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995	Intron	21	57	21	57	---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939383	47939383	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:47939383G>A	ENST00000514170.1	-	11	1447	c.1128C>T	c.(1126-1128)gtC>gtT	p.V376V	CNGA1_ENST00000544810.1_Silent_p.V376V|CNGA1_ENST00000402813.3_Silent_p.V445V|CNGA1_ENST00000358519.4_Silent_p.V376V|CNGA1_ENST00000420489.2_Silent_p.V376V			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	376					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.V376V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CCACCACAAAGACATACTCAG	0.428																																						uc003gxt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1126-1128)GTC>GTT		cyclic nucleotide gated channel alpha 1 isoform							139.0	136.0	137.0					4																	47939383		1870	4111	5981	SO:0001819	synonymous_variant	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939383G>A	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1128C>T	4.37:g.47939383G>A						uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.V445V	p.V376V	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	1394	-			376			Helical; Name=H5; (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	ENST00000514170.1	37	c.1128C>T	CCDS43226.1																																																																																				PASS	0.428	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		12	220	12	220	---	---	---	---
SCFD2	152579	broad.mit.edu	37	4	54011748	54011748	+	Splice_Site	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:54011748C>A	ENST00000401642.3	-	5	1446	c.1313G>T	c.(1312-1314)aGc>aTc	p.S438I	SCFD2_ENST00000388940.4_Splice_Site_p.S438I	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	438					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.S438I(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCCCCAATGCTCTAAAATAA	0.373																																						uc003gzu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1312-1314)AGC>ATC		sec1 family domain containing 2							75.0	80.0	78.0					4																	54011748		2203	4300	6503	SO:0001630	splice_region_variant	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54011748C>A	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1312-1G>T	4.37:g.54011748C>A						SCFD2_uc010igm.2_Missense_Mutation_p.S438I	p.S438I	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		5	1447	-			438					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.1313G>T	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	C	7.623	0.677286	0.14841	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.80480	-1.38;-1.38	4.87	2.23	0.28157	.	0.382752	0.26397	N	0.024605	T	0.74291	0.3697	L	0.43152	1.355	0.34849	D	0.741432	P;P	0.40794	0.729;0.57	B;P	0.45577	0.354;0.486	T	0.74377	-0.3685	10	0.45353	T	0.12	.	5.5573	0.17123	0.0:0.5429:0.1445:0.3126	.	438;438	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	I	438	ENSP00000384182:S438I;ENSP00000373592:S438I	ENSP00000373592:S438I	S	-	2	0	SCFD2	53706505	0.999000	0.42202	0.980000	0.43619	0.058000	0.15608	0.417000	0.21214	0.270000	0.21984	0.462000	0.41574	AGC		PASS	0.373	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540	Missense_Mutation	16	105	16	105	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128605626	128605626	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:128605626A>G	ENST00000335251.6	+	7	1347	c.1244A>G	c.(1243-1245)tAt>tGt	p.Y415C		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	415					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.Y415C(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAATTTATGTATGGTTCTTTA	0.299																																						uc003ifk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1243-1245)TAT>TGT		PDZ domain containing 6							89.0	87.0	88.0					4																	128605626		2203	4298	6501	SO:0001583	missense	27152							g.chr4:128605626A>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1244A>G	4.37:g.128605626A>G	ENSP00000334003:p.Tyr415Cys					INTU_uc011cgq.1_RNA	p.Y415C	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			7	1314	+			415					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.1244A>G	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496947	0.64186	.	.	ENSG00000164066	ENST00000335251	T	0.29397	1.57	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62789	-0.6780	10	0.87932	D	0	-10.363	13.9581	0.64162	1.0:0.0:0.0:0.0	.	415	Q9ULD6	PDZD6_HUMAN	C	415	ENSP00000334003:Y415C	ENSP00000334003:Y415C	Y	+	2	0	INTU	128825076	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.633000	0.74286	1.869000	0.54173	0.482000	0.46254	TAT		PASS	0.299	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		11	50	11	50	---	---	---	---
SPOCK3	50859	broad.mit.edu	37	4	167810281	167810281	+	Splice_Site	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:167810281C>A	ENST00000357154.3	-	7	735	c.598G>T	c.(598-600)Gca>Tca	p.A200S	SPOCK3_ENST00000506886.1_Splice_Site_p.A200S|SPOCK3_ENST00000534949.1_Splice_Site_p.A104S|SPOCK3_ENST00000541354.1_Splice_Site_p.A80S|SPOCK3_ENST00000511269.1_Splice_Site_p.A197S|SPOCK3_ENST00000357545.4_Splice_Site_p.A197S|SPOCK3_ENST00000421836.2_Splice_Site_p.A149S|SPOCK3_ENST00000502330.1_Splice_Site_p.A200S|SPOCK3_ENST00000535728.1_Splice_Site_p.G108*|SPOCK3_ENST00000504953.1_Splice_Site_p.A197S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511531.1_Splice_Site_p.A200S|SPOCK3_ENST00000512681.1_Splice_Site_p.A102S|SPOCK3_ENST00000541637.1_Splice_Site_p.A102S|SPOCK3_ENST00000510741.1_Splice_Site_p.G197*|SPOCK3_ENST00000512648.1_Splice_Site_p.A197S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	200					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)	p.A197S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tGTCACTTACCTCTCTTAACA	0.333																																						uc003iri.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(598-600)GCA>TCA		testican 3 isoform 2							97.0	93.0	94.0					4																	167810281		2203	4299	6502	SO:0001630	splice_region_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167810281C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.598+1G>T	4.37:g.167810281C>A						SPOCK3_uc011cjp.1_Nonsense_Mutation_p.G197*|SPOCK3_uc011cjq.1_Missense_Mutation_p.A209S|SPOCK3_uc011cjr.1_Missense_Mutation_p.A80S|SPOCK3_uc003irj.1_Missense_Mutation_p.A197S|SPOCK3_uc011cjs.1_Missense_Mutation_p.A149S|SPOCK3_uc011cjt.1_Missense_Mutation_p.A108S|SPOCK3_uc011cju.1_Missense_Mutation_p.A93S|SPOCK3_uc011cjv.1_Missense_Mutation_p.A102S|SPOCK3_uc003irk.3_Missense_Mutation_p.A197S|SPOCK3_uc011cjw.1_RNA	p.A200S	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	7	739	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	200					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.598G>T	CCDS54817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.02|11.02	1.515065|1.515065	0.27123|0.27123	.|.	.|.	ENSG00000196104|ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648|ENST00000510741;ENST00000535728	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.42900|.	1.53;1.53;1.53;1.53;1.53;1.53;1.42;0.96;1.53;1.31;0.96;1.19;2.29|.	5.17|5.17	3.43|3.43	0.39272|0.39272	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);|.	0.232083|.	0.37955|.	N|.	0.001863|.	T|.	0.22898|.	0.0553|.	N|N	0.04880|0.04880	-0.145|-0.145	0.29619|0.29619	N|N	0.846322|0.846322	P;P;B;B;B;B;B|.	0.42692|.	0.485;0.787;0.201;0.202;0.052;0.082;0.125|.	B;B;B;B;B;B;B|.	0.40741|.	0.339;0.295;0.14;0.183;0.075;0.085;0.183|.	T|.	0.20174|.	-1.0283|.	9|.	.|.	.|.	.|.	-26.2587|-26.2587	10.9258|10.9258	0.47189|0.47189	0.0:0.798:0.1308:0.0712|0.0:0.798:0.1308:0.0712	.|.	102;104;149;209;200;197;200|.	B4DGK5;F5H099;B4DHB4;B4DFW5;Q9BQ16-2;Q9BQ16-1;Q9BQ16|.	.;.;.;.;.;.;TICN3_HUMAN|.	S|X	200;197;197;200;200;200;80;102;197;149;102;104;197|197;108	ENSP00000349677:A200S;ENSP00000350153:A197S;ENSP00000425570:A197S;ENSP00000420920:A200S;ENSP00000423421:A200S;ENSP00000423606:A200S;ENSP00000444789:A80S;ENSP00000426318:A102S;ENSP00000425502:A197S;ENSP00000411344:A149S;ENSP00000445430:A102S;ENSP00000438142:A104S;ENSP00000426177:A197S|.	.|.	A|G	-|-	1|1	0|0	SPOCK3|SPOCK3	168046856|168046856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.016000|0.016000	0.09150|0.09150	2.216000|2.216000	0.42871|0.42871	0.661000|0.661000	0.30985|0.30985	-0.156000|-0.156000	0.13503|0.13503	GCA|GGA		PASS	0.333	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		Missense_Mutation	14	72	14	72	---	---	---	---
MORF4	10934	broad.mit.edu	37	4	174537110	174537110	+	IGR	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:174537110C>T								RP11-475B2.1 (21403 upstream) : RP11-161D15.2 (280434 downstream)																							CGATGGTACTCAGGAAGAGCC	0.403																																						uc011cke.1																			0					0						c.(685-687)GAG>AAG		mortality factor 4							79.0	69.0	72.0					4																	174537110		2203	4300	6503	SO:0001628	intergenic_variant	10934							g.chr4:174537110C>T																													4.37:g.174537110C>T							p.E229K	NM_006792	NP_006783				all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	685	-		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)							Missense_Mutation	SNP		37	c.685G>A																																																																																				0	PASS	0.403									7	42	7	42	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183601758	183601758	+	Missense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr4:183601758A>T	ENST00000511685.1	+	10	1825	c.1702A>T	c.(1702-1704)Agc>Tgc	p.S568C	TENM3_ENST00000406950.2_Missense_Mutation_p.S568C|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	568	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S568C(1)									CCTGTGTTTCAGCGGCTGGAA	0.552																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1702-1704)AGC>TGC		odz, odd Oz/ten-m homolog 3							89.0	91.0	90.0					4																	183601758		1944	4138	6082	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183601758A>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1702A>T	4.37:g.183601758A>T	ENSP00000424226:p.Ser568Cys					ODZ3_uc003ive.1_5'UTR	p.S568C	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	9	1739	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	568			Extracellular (Potential).|EGF-like 2.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1702A>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068400	0.76301	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.11604	2.76;2.76	5.39	4.21	0.49690	EGF-like region, conserved site (2);	.	.	.	.	T	0.33527	0.0866	M	0.89095	3.005	0.58432	D	0.999996	D	0.61697	0.99	P	0.60541	0.876	T	0.24225	-1.0166	9	0.72032	D	0.01	.	11.2172	0.48833	0.9287:0.0:0.0713:0.0	.	568	Q9P273	TEN3_HUMAN	C	568	ENSP00000424226:S568C;ENSP00000385276:S568C	ENSP00000385276:S568C	S	+	1	0	ODZ3	183838752	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.127000	0.94417	1.059000	0.40554	0.533000	0.62120	AGC		PASS	0.552	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	72	12	72	---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	850700	850700	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:850700C>A	ENST00000283441.8	-	1	401	c.18G>T	c.(16-18)ggG>ggT	p.G6G	ZDHHC11_ENST00000424784.2_Silent_p.G6G	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	6						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.G6G(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AACACTGGCTCCCGGAGCGGG	0.627																																						uc011cma.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)|pancreas(1)	2						c.(16-18)GGG>GGT		zinc finger, DHHC-type containing 11							64.0	69.0	67.0					5																	850700		2202	4300	6502	SO:0001819	synonymous_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:850700C>A	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.18G>T	5.37:g.850700C>A						ZDHHC11_uc003jbj.2_5'Flank	p.G6G	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		1	402	-			6					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.18G>T	CCDS3857.1																																																																																				PASS	0.627	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		22	163	22	163	---	---	---	---
FLJ33360	401172	broad.mit.edu	37	5	6312505	6312505	+	lincRNA	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:6312505T>C	ENST00000507444.1	-	0	467					NR_028351.1																						AGCAGGGGAGTGCAATGTCCC	0.592																																						uc003jdn.1																			0					0						c.(370-372)CAC>CGC		SubName: Full=FLJ33360 protein; SubName: Full=cDNA FLJ33360 fis, clone BRACE2005253;							25.0	28.0	27.0					5																	6312505		1984	4167	6151			401172							g.chr5:6312505T>C																													5.37:g.6312505T>C							p.H124R	NM_001001702	NP_001001702					2	468	-									Missense_Mutation	SNP	ENST00000507444.1	37	c.371A>G																																																																																					PASS	0.592	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000365707.1			7	14	7	14	---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15936724	15936724	+	Missense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:15936724A>T	ENST00000504595.1	+	4	1386	c.905A>T	c.(904-906)cAc>cTc	p.H302L	FBXL7_ENST00000510662.1_Missense_Mutation_p.H255L|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000329673.7_Missense_Mutation_p.H290L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	302					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.H302L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAGCTCACCCACCTCTACCTG	0.642																																						uc003jfn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(904-906)CAC>CTC		F-box and leucine-rich repeat protein 7							48.0	51.0	50.0					5																	15936724		2195	4293	6488	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936724A>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.905A>T	5.37:g.15936724A>T	ENSP00000423630:p.His302Leu						p.H302L	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1386	+			302			LRR 5.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.905A>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.718501	0.48622	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.02301	4.35;4.35;4.35	5.16	4.01	0.46588	.	0.043215	0.85682	D	0.000000	T	0.03651	0.0104	L	0.49455	1.56	0.58432	D	0.999999	P	0.41748	0.761	P	0.45538	0.484	T	0.57636	-0.7777	10	0.14252	T	0.57	.	10.6452	0.45615	0.9245:0.0:0.0755:0.0	.	302	Q9UJT9	FBXL7_HUMAN	L	302;255;290	ENSP00000423630:H302L;ENSP00000425184:H255L;ENSP00000329632:H290L	ENSP00000329632:H290L	H	+	2	0	FBXL7	15989724	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.576000	0.82467	0.826000	0.34661	0.533000	0.62120	CAC		PASS	0.642	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		6	70	6	70	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19747089	19747090	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:19747089_19747090CC>AT	ENST00000507958.1	-	6	1474_1475	c.484_485GG>AT	c.(484-486)GGa>ATa	p.G162I	CDH18_ENST00000511273.1_Missense_Mutation_p.G162I|CDH18_ENST00000382275.1_Missense_Mutation_p.G162I|CDH18_ENST00000506372.1_Missense_Mutation_p.G162I|CDH18_ENST00000502796.1_Missense_Mutation_p.G162I|CDH18_ENST00000274170.4_Missense_Mutation_p.G162I			Q13634	CAD18_HUMAN	cadherin 18, type 2	162	Cadherin 2. {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.G162V(2)|p.G162I(2)|p.G162R(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)					AATGTATGGTCCATCTGTGAAT	0.347																																						uc003jgc.2																			6	Substitution - Missense(6)		lung(6)	ovary(5)|large_intestine(1)|skin(1)	7						c.(484-486)GGA>GTA|c.(484-486)GGA>AGA		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.chr5:19747089C>A|g.chr5:19747090C>T	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.484_485delinsAT	5.37:g.19747089_19747090delinsAT	ENSP00000425093:p.Gly162Ile					CDH18_uc003jgd.2_Missense_Mutation_p.G162V|CDH18_uc011cnm.1_Missense_Mutation_p.G162V|CDH18_uc003jgd.2_Missense_Mutation_p.G162R|CDH18_uc011cnm.1_Missense_Mutation_p.G162R	p.G162V|p.G162R	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	862|861	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		162			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.485G>T|c.484G>A	CCDS3889.1																																																																																				PASS	0.347	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		59	127|128	59	127	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23527405	23527405	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:23527405C>A	ENST00000296682.3	+	11	2390	c.2208C>A	c.(2206-2208)ctC>ctA	p.L736L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	736					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.L736L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACACCTCCTCAGACACCAGA	0.587										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2206-2208)CTC>CTA		PR domain containing 9							20.0	24.0	22.0					5																	23527405		2038	4139	6177	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527405C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2208C>A	5.37:g.23527405C>A		HNSCC(3;0.000094)					p.L736L	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2390	+			736			C2H2-type 9.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2208C>A	CCDS43307.1																																																																																				PASS	0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		67	77	67	77	---	---	---	---
C7	730	broad.mit.edu	37	5	40955528	40955528	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:40955528G>T	ENST00000313164.9	+	10	1492	c.1133G>T	c.(1132-1134)aGa>aTa	p.R378I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	378	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.R378I(1)					Ovarian(839;0.0112)				CCGTTCATCAGAGGGGGAGGT	0.423																																						uc003jmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1132-1134)AGA>ATA		complement component 7 precursor							136.0	134.0	135.0					5																	40955528		1884	4113	5997	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40955528G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1133G>T	5.37:g.40955528G>T	ENSP00000322061:p.Arg378Ile					C7_uc011cpn.1_RNA	p.R378I	NM_000587	NP_000578	P10643	CO7_HUMAN			10	1247	+		Ovarian(839;0.0112)	378			MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1133G>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580734	0.28180	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	D	0.83591	-1.74	5.26	1.83	0.25207	Membrane attack complex component/perforin (MACPF) domain (3);	0.847199	0.10642	N	0.650945	T	0.69415	0.3108	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.53187	-0.8474	10	0.27082	T	0.32	-11.5116	0.4288	0.00468	0.2133:0.2395:0.3064:0.2408	.	378	P10643	CO7_HUMAN	I	378;218	ENSP00000322061:R378I	ENSP00000322061:R378I	R	+	2	0	C7	40991285	1.000000	0.71417	0.858000	0.33744	0.106000	0.19336	1.624000	0.37018	0.640000	0.30582	0.655000	0.94253	AGA		PASS	0.423	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			92	189	92	189	---	---	---	---
TRIM23	373	broad.mit.edu	37	5	64913946	64913946	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:64913946G>A	ENST00000231524.9	-	2	589	c.218C>T	c.(217-219)cCa>cTa	p.P73L	TRIM23_ENST00000274327.7_Missense_Mutation_p.P73L|TRIM23_ENST00000381018.3_Missense_Mutation_p.P73L	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	73					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P73L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TCGATCAAATGGGCAACGGAT	0.418																																						uc003jty.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(217-219)CCA>CTA		ADP-ribosylation factor domain protein 1 isoform							126.0	119.0	122.0					5																	64913946		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64913946G>A	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.218C>T	5.37:g.64913946G>A	ENSP00000231524:p.Pro73Leu					TRIM23_uc003jtw.2_Missense_Mutation_p.P73L|TRIM23_uc003jtx.2_Missense_Mutation_p.P73L	p.P73L	NM_001656	NP_001647	P36406	TRI23_HUMAN		Lung(70;0.00473)	2	304	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	73			RING-type; degenerate.		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.218C>T	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170769	0.94807	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.95885	-3.84;-3.84;-3.84	5.5	5.5	0.81552	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	H	0.94222	3.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.998	D	0.99525	1.0959	10	0.87932	D	0	.	17.5734	0.87941	0.0:0.0:1.0:0.0	.	73;73;73	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	L	73	ENSP00000231524:P73L;ENSP00000370406:P73L;ENSP00000274327:P73L	ENSP00000231524:P73L	P	-	2	0	TRIM23	64949702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.410000	0.97335	2.589000	0.87451	0.467000	0.42956	CCA		PASS	0.418	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		19	28	19	28	---	---	---	---
MARVELD2	153562	broad.mit.edu	37	5	68728477	68728477	+	Missense_Mutation	SNP	C	C	A	rs200014615		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:68728477C>A	ENST00000325631.5	+	4	1380	c.1306C>A	c.(1306-1308)Cct>Act	p.P436T	MARVELD2_ENST00000413223.2_Missense_Mutation_p.P320T	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	436					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)		p.P436T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CATTCCTAAACCTATCGTGAT	0.458																																						uc003jwq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1306-1308)CCT>ACT		MARVEL domain containing 2 isoform 1							98.0	91.0	94.0					5																	68728477		2203	4300	6503	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68728477C>A	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1306C>A	5.37:g.68728477C>A	ENSP00000323264:p.Pro436Thr					MARVELD2_uc010ixf.2_Missense_Mutation_p.P424T|MARVELD2_uc003jwr.1_Intron|MARVELD2_uc003jws.1_RNA	p.P436T	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	4	1365	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	436			Cytoplasmic (Potential).		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.1306C>A	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399554	0.62177	.	.	ENSG00000152939	ENST00000325631;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	T;T;T;T;T	0.49432	1.33;0.78;1.19;1.43;1.43	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70753	0.3260	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.67548	0.946;0.952	T	0.73056	-0.4103	10	0.59425	D	0.04	-15.3742	18.612	0.91288	0.0:1.0:0.0:0.0	.	424;436	Q8N4S9-3;Q8N4S9	.;MALD2_HUMAN	T	436;424;436;320;320	ENSP00000323264:P436T;ENSP00000396244:P424T;ENSP00000423490:P436T;ENSP00000414776:P320T;ENSP00000398922:P320T	ENSP00000323264:P436T	P	+	1	0	MARVELD2	68764233	1.000000	0.71417	0.172000	0.22920	0.309000	0.27889	7.341000	0.79300	2.692000	0.91855	0.655000	0.94253	CCT		PASS	0.458	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		3	68	3	68	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90041472	90041472	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:90041472G>A	ENST00000405460.2	+	52	10930	c.10834G>A	c.(10834-10836)Gat>Aat	p.D3612N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3612	Calx-beta 23. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D3612N(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATCCTTGATGATACAGTTCC	0.348																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(10834-10836)GAT>AAT		G protein-coupled receptor 98 precursor							81.0	76.0	78.0					5																	90041472		1826	4085	5911	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90041472G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10834G>A	5.37:g.90041472G>A	ENSP00000384582:p.Asp3612Asn					GPR98_uc003kjt.2_Missense_Mutation_p.D1318N|GPR98_uc003kjv.2_Missense_Mutation_p.D1212N	p.D3612N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	52	10930	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3612			Calx-beta 23.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10834G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.348477|5.348477	0.95807|0.95807	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.55588|.	0.51|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Na-Ca exchanger/integrin-beta4 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81828|0.81828	0.4905|0.4905	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.97110|.	1.0;0.985|.	T|T	0.81784|0.81784	-0.0774|-0.0774	10|5	0.48119|.	T|.	0.1|.	.|.	19.6119|19.6119	0.95610|0.95610	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3612;3612|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	N|I	3612|1177	ENSP00000384582:D3612N|.	ENSP00000296619:D3612N|.	D|M	+|+	1|3	0|0	GPR98|GPR98	90077228|90077228	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.982000|0.982000	0.71751|0.71751	9.455000|9.455000	0.97625|0.97625	2.648000|2.648000	0.89879|0.89879	0.563000|0.563000	0.77884|0.77884	GAT|ATG		PASS	0.348	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		21	64	21	64	---	---	---	---
LOX	4015	broad.mit.edu	37	5	121412588	121412588	+	Splice_Site	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:121412588C>A	ENST00000231004.4	-	2	1039	c.740G>T	c.(739-741)aGt>aTt	p.S247I	LOX_ENST00000513319.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	247	Lysyl-oxidase like.				blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)	p.S247I(1)		endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CAGCCCGTACCTGGCCAGACA	0.602											OREG0016741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ksu.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(739-741)AGT>ATT		lysyl oxidase preproprotein							100.0	97.0	98.0					5																	121412588		2203	4300	6503	SO:0001630	splice_region_variant	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121412588C>A		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.740+1G>T	5.37:g.121412588C>A			OREG0016741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1511	LOX_uc010jcp.2_5'Flank|LOX_uc010jcq.2_5'Flank|LOX_uc011cwk.1_Missense_Mutation_p.S17I|LOX_uc010jcr.2_Intron	p.S247I	NM_002317	NP_002308	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	2	1115	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	247			Lysyl-oxidase like.		B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	c.740G>T	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732540	0.89482	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.40476	1.03	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	M	0.87456	2.885	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	T	0.74185	-0.3747	9	.	.	.	.	18.9155	0.92505	0.0:1.0:0.0:0.0	.	247	P28300	LYOX_HUMAN	I	247;207	ENSP00000231004:S247I	.	S	-	2	0	LOX	121440487	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.830000	0.69324	2.558000	0.86282	0.555000	0.69702	AGT		PASS	0.602	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2		Missense_Mutation	24	59	24	59	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127624178	127624178	+	Missense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:127624178A>T	ENST00000508053.1	-	59	7683	c.6709T>A	c.(6709-6711)Tgc>Agc	p.C2237S	FBN2_ENST00000262464.4_Missense_Mutation_p.C2237S			P35556	FBN2_HUMAN	fibrillin 2	2237	EGF-like 37; 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.C2237S(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)		TTGCAATTGCATTCAAAACTC	0.378																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(6709-6711)TGC>AGC		fibrillin 2 precursor							115.0	107.0	109.0					5																	127624178		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.chr5:127624178A>T	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.6709T>A	5.37:g.127624178A>T	ENSP00000424571:p.Cys2237Ser						p.C2237S	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)	53	7148	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2237			EGF-like 37; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6709T>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.833875	0.91036	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.99429	-5.89;-5.89	4.86	4.86	0.63082	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	0.000006	D	0.99739	0.9897	H	0.98507	4.25	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.96991	0.9722	10	0.87932	D	0	.	14.9154	0.70792	1.0:0.0:0.0:0.0	.	2237	P35556	FBN2_HUMAN	S	2237	ENSP00000262464:C2237S;ENSP00000424571:C2237S	ENSP00000262464:C2237S	C	-	1	0	FBN2	127652077	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.087000	0.94110	2.179000	0.69175	0.460000	0.39030	TGC		PASS	0.378	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		5	53	5	53	---	---	---	---
GDF9	2661	broad.mit.edu	37	5	132200015	132200015	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:132200015C>A	ENST00000378673.2	-	2	1077	c.211G>T	c.(211-213)Gtt>Ttt	p.V71F	UQCRQ_ENST00000378665.1_5'Flank|UQCRQ_ENST00000378670.3_5'Flank|GDF9_ENST00000464378.1_Intron|GDF9_ENST00000296875.2_Missense_Mutation_p.V71F|UQCRQ_ENST00000378667.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	71					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.V71F(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCGCCCAACAGATAGAACT	0.507																																						uc003kxz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(211-213)GTT>TTT		growth differentiation factor 9 precursor							107.0	114.0	112.0					5																	132200015		2203	4300	6503	SO:0001583	missense	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132200015C>A		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.211G>T	5.37:g.132200015C>A	ENSP00000367942:p.Val71Phe					GDF9_uc011cxj.1_Intron|UQCRQ_uc003kya.1_5'Flank	p.V71F	NM_005260	NP_005251	O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	463	-		all_cancers(142;0.105)|Breast(839;0.198)	71					Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	c.211G>T	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547097	0.27652	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.59502	0.26;0.26	5.72	1.95	0.26073	.	0.272209	0.42172	D	0.000741	T	0.35008	0.0917	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.32771	-0.9894	10	0.59425	D	0.04	.	11.4672	0.50246	0.0:0.7405:0.0:0.2595	.	71	O60383	GDF9_HUMAN	F	71	ENSP00000367942:V71F;ENSP00000296875:V71F	ENSP00000296875:V71F	V	-	1	0	GDF9	132227914	0.000000	0.05858	0.001000	0.08648	0.627000	0.37826	0.204000	0.17335	0.449000	0.26747	0.655000	0.94253	GTT		PASS	0.507	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		38	69	38	69	---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140261956	140261956	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:140261956G>A	ENST00000289272.2	+	1	103	c.103G>A	c.(103-105)Gtc>Atc	p.V35I	PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V35I|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V35I(2)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTACTCCGTCCCCGAGGA	0.667																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(103-105)GTC>ATC		protocadherin alpha 13 isoform 1 precursor							81.0	88.0	86.0					5																	140261956		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140261956G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.103G>A	5.37:g.140261956G>A	ENSP00000289272:p.Val35Ile					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.V35I|PCDHA13_uc003lid.2_Missense_Mutation_p.V35I	p.V35I	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	103	+			35			Cadherin 1.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.103G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	5.854	0.341852	0.11069	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.35789	1.29;1.29	5.58	4.7	0.59300	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.32041	0.0816	L	0.28694	0.88	0.23798	N	0.996817	B;B;B	0.34181	0.261;0.292;0.44	B;B;B	0.43658	0.078;0.426;0.075	T	0.26608	-1.0098	9	0.14252	T	0.57	.	9.6172	0.39698	0.1627:0.0:0.8373:0.0	.	35;35;35	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	I	35	ENSP00000386821:V35I;ENSP00000289272:V35I	ENSP00000289272:V35I	V	+	1	0	PCDHA13	140242140	0.490000	0.26012	0.922000	0.36590	0.192000	0.23643	0.831000	0.27476	1.324000	0.45282	0.561000	0.74099	GTC		PASS	0.667	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		54	90	54	90	---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140735556	140735556	+	Silent	SNP	C	C	T	rs539292307		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:140735556C>T	ENST00000571252.1	+	1	789	c.789C>T	c.(787-789)acC>acT	p.T263T	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	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)			GGCTACTCACCGTAAAAGCCA	0.458													.|||	1	0.000199681	0.0	0.0	5008	,	,		20598	0.0		0.0	False		,,,				2504	0.001					uc003ljq.1																			0					0						c.(787-789)ACC>ACT		protocadherin gamma subfamily A, 4 isoform 1							37.0	40.0	39.0					5																	140735556		2004	4170	6174	SO:0001819	synonymous_variant	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140735556C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.789C>T	5.37:g.140735556C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.T263T	p.T263T	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	789	+			263			Cadherin 3.|Extracellular (Potential).		Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.789C>T	CCDS58979.1																																																																																				PASS	0.458	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		8	41	8	41	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140778312	140778312	+	Intron	SNP	T	T	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:140778312T>G	ENST00000576222.1	+	1	2546				PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_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)			AACAACAGAGTTACCATCGTT	0.493																																						uc003lkf.1																			0					0						c.(616-618)AGT>AGG		protocadherin gamma subfamily B, 5 isoform 1							109.0	112.0	111.0					5																	140778312		1942	4136	6078	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140778312T>G	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+25936T>G	5.37:g.140778312T>G						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.S206R	p.S206R	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	618	+			206			Extracellular (Potential).|Cadherin 2.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.618T>G	CCDS58980.1																																																																																				PASS	0.493	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		15	130	15	130	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145979881	145979881	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:145979881C>A	ENST00000394413.3	-	7	1503	c.933G>T	c.(931-933)atG>atT	p.M311I	PPP2R2B_ENST00000394414.1_Missense_Mutation_p.M377I|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.M300I|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.M311I|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.M300I|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.M369I|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.M311I|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.M317I|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.M314I|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.M311I			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	311					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.M314I(1)|p.M300I(1)|p.M311I(1)|p.M369I(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCGGTTTTCCATGTTGAGAT	0.473																																						uc003loe.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)|prostate(1)	2						c.(931-933)ATG>ATT		beta isoform of regulatory subunit B55, protein							167.0	163.0	164.0					5																	145979881		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145979881C>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.933G>T	5.37:g.145979881C>A	ENSP00000377935:p.Met311Ile					PPP2R2B_uc010jgm.2_Missense_Mutation_p.M300I|PPP2R2B_uc003log.3_Missense_Mutation_p.M311I|PPP2R2B_uc003lof.3_Missense_Mutation_p.M311I|PPP2R2B_uc003loi.3_Missense_Mutation_p.M314I|PPP2R2B_uc003loh.3_Missense_Mutation_p.M311I|PPP2R2B_uc003loj.3_Missense_Mutation_p.M291I|PPP2R2B_uc003lok.3_Missense_Mutation_p.M300I|PPP2R2B_uc011dbu.1_Missense_Mutation_p.M317I|PPP2R2B_uc011dbv.1_Missense_Mutation_p.M369I	p.M311I	NM_004576	NP_004567	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1458	-			311			WD 5.		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.933G>T	CCDS4284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.342071|4.342071	0.81911|0.81911	.|.	.|.	ENSG00000156475|ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409|ENST00000512984	T;T;T;T;T;T;T;T;T;T|.	0.28454|.	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61|.	5.8|5.8	5.8|5.8	0.92144|0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87815|0.87815	0.6272|0.6272	H|H	0.94423|0.94423	3.535|3.535	0.80722|0.80722	D|D	1|1	P;P;P;P;P;P|.	0.47484|.	0.757;0.757;0.757;0.757;0.896;0.757|.	B;B;B;B;P;B|.	0.52454|.	0.304;0.304;0.229;0.304;0.699;0.304|.	D|D	0.90345|0.90345	0.4362|0.4362	10|5	0.87932|.	D|.	0|.	-21.7646|-21.7646	20.0467|20.0467	0.97609|0.97609	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	369;317;300;377;314;311|.	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005|.	.;.;.;.;.;2ABB_HUMAN|.	I|L	311;300;377;311;311;311;300;314;317;369|20	ENSP00000377935:M311I;ENSP00000431320:M300I;ENSP00000377936:M377I;ENSP00000377933:M311I;ENSP00000349283:M311I;ENSP00000398779:M311I;ENSP00000377932:M300I;ENSP00000336591:M314I;ENSP00000421396:M317I;ENSP00000377931:M369I|.	ENSP00000336591:M314I|.	M|W	-|-	3|2	0|0	AC011357.1|AC011357.1	145960074|145960074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	ATG|TGG		PASS	0.473	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		51	84	51	84	---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147486684	147486684	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:147486684G>T	ENST00000256084.7	+	17	1606	c.1564G>T	c.(1564-1566)Ggc>Tgc	p.G522C	SPINK5_ENST00000398454.1_Missense_Mutation_p.G522C|SPINK5_ENST00000359874.3_Missense_Mutation_p.G522C	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	522	Kazal-like 8. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G522C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCCAGATGGCAAAATGCA	0.488																																						uc003lox.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.(1564-1566)GGC>TGC		serine peptidase inhibitor, Kazal type 5 isoform							164.0	162.0	163.0					5																	147486684		2034	4189	6223	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147486684G>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1564G>T	5.37:g.147486684G>T	ENSP00000256084:p.Gly522Cys					SPINK5_uc010jgs.1_Missense_Mutation_p.G494C|SPINK5_uc010jgr.2_Missense_Mutation_p.G503C|SPINK5_uc003low.2_Missense_Mutation_p.G522C|SPINK5_uc003loy.2_Missense_Mutation_p.G522C	p.G522C	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1637	+			522			Kazal-like 8.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1564G>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629300	0.46944	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	4.81	4.81	0.61882	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.48767	D	0.000180	T	0.47078	0.1426	M	0.93197	3.39	0.35852	D	0.826871	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.66364	-0.5942	10	0.87932	D	0	-18.1027	13.5831	0.61915	0.0:0.0:1.0:0.0	.	503;522;522;522	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	C	522;522;503;522	ENSP00000381472:G522C;ENSP00000352936:G522C;ENSP00000421519:G503C;ENSP00000256084:G522C	ENSP00000256084:G522C	G	+	1	0	SPINK5	147466877	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	4.712000	0.61888	2.680000	0.91292	0.561000	0.74099	GGC		PASS	0.488	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		31	124	31	124	---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149439324	149439324	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:149439324G>T	ENST00000286301.3	-	15	2362	c.2071C>A	c.(2071-2073)Cag>Aag	p.Q691K	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	691	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.Q691K(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)	TCGGGGTCCTGGCCGGGGCTC	0.582																																						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.(2071-2073)CAG>AAG		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						64.0	68.0	67.0					5																	149439324		2203	4300	6503	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.chr5:149439324G>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.2071C>A	5.37:g.149439324G>T	ENSP00000286301:p.Gln691Lys					CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_Intron|CSF1R_uc003lrm.2_Missense_Mutation_p.Q691K	p.Q691K	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		14	2266	-			691			Protein kinase.|Cytoplasmic (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.2071C>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	2.497	-0.315996	0.05422	.	.	ENSG00000182578	ENST00000286301	T	0.76186	-1.0	4.79	3.91	0.45181	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.012330	0.07935	N	0.978276	T	0.58090	0.2098	N	0.19112	0.55	0.09310	N	0.999999	B	0.31351	0.32	B	0.31390	0.129	T	0.42531	-0.9446	10	0.10111	T	0.7	.	9.7543	0.40494	0.0791:0.1443:0.7766:0.0	.	691	P07333	CSF1R_HUMAN	K	691	ENSP00000286301:Q691K	ENSP00000286301:Q691K	Q	-	1	0	CSF1R	149419517	0.021000	0.18746	0.466000	0.27168	0.049000	0.14656	2.181000	0.42547	2.601000	0.87937	0.561000	0.74099	CAG		PASS	0.582	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		37	49	37	49	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149772327	149772327	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:149772327G>A	ENST00000504761.2	+	22	3574	c.3574G>A	c.(3574-3576)Gag>Aag	p.E1192K	TCOF1_ENST00000451292.1_Missense_Mutation_p.E1229K|TCOF1_ENST00000445265.2_Missense_Mutation_p.E1116K|TCOF1_ENST00000439160.2_Missense_Mutation_p.E1155K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E1193K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E1115K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E1192K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1192					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.E1192K(1)|p.E1115K(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAGTCCAGCGAGGATGATGT	0.637																																						uc003lry.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(3574-3576)GAG>AAG		Treacher Collins-Franceschetti syndrome 1							53.0	50.0	51.0					5																	149772327		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149772327G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3574G>A	5.37:g.149772327G>A	ENSP00000421655:p.Glu1192Lys					TCOF1_uc011dch.1_Missense_Mutation_p.E1155K|TCOF1_uc003lrz.2_Missense_Mutation_p.E1154K|TCOF1_uc003lrx.2_Missense_Mutation_p.E1116K|TCOF1_uc003lsa.2_Missense_Mutation_p.E1115K	p.E1192K	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3682	+		all_hematologic(541;0.224)	1192					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.3574G>A	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148387	0.94603	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.55	5.55	0.83447	.	0.596735	0.14050	N	0.344855	T	0.60340	0.2261	L	0.29908	0.895	0.31452	N	0.670632	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.993;0.996	P;P;P;P;P	0.57009	0.811;0.811;0.811;0.652;0.811	T	0.58994	-0.7537	10	0.28530	T	0.3	-12.0608	15.0069	0.71519	0.0:0.0:1.0:0.0	.	1155;1115;1154;1192;1116	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	K	1229;1193;1116;1115;1155;1154;1192;1192	ENSP00000400939:E1229K;ENSP00000367028:E1193K;ENSP00000409944:E1116K;ENSP00000325223:E1115K;ENSP00000406888:E1155K;ENSP00000390717:E1154K;ENSP00000421655:E1192K;ENSP00000427484:E1192K	ENSP00000325223:E1115K	E	+	1	0	TCOF1	149752520	0.997000	0.39634	0.834000	0.33040	0.981000	0.71138	4.839000	0.62810	2.621000	0.88768	0.561000	0.74099	GAG		PASS	0.637	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		15	25	15	25	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156590666	156590666	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:156590666C>G	ENST00000302938.4	-	2	705	c.610G>C	c.(610-612)Gca>Cca	p.A204P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	204						nucleus (GO:0005634)		p.A204P(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAGCTCTGCAGCCTATACC	0.488																																						uc003lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(610-612)GCA>CCA		family with sequence similarity 71, member B							76.0	81.0	79.0					5																	156590666		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590666C>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.610G>C	5.37:g.156590666C>G	ENSP00000305596:p.Ala204Pro						p.A204P	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	710	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	204					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.610G>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170257	0.21621	.	.	ENSG00000170613	ENST00000302938	T	0.03889	3.77	3.9	-7.8	0.01214	.	1.308410	0.05345	N	0.530776	T	0.02888	0.0086	L	0.40543	1.245	0.09310	N	1	B	0.32573	0.376	B	0.23275	0.045	T	0.24764	-1.0151	10	0.30078	T	0.28	0.0542	1.7092	0.02888	0.4736:0.178:0.091:0.2574	.	204	Q8TC56	FA71B_HUMAN	P	204	ENSP00000305596:A204P	ENSP00000305596:A204P	A	-	1	0	FAM71B	156523244	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-2.827000	0.00746	-2.381000	0.00594	-0.182000	0.12963	GCA		PASS	0.488	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		26	65	26	65	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156915440	156915440	+	Missense_Mutation	SNP	G	G	T	rs150381064		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:156915440G>T	ENST00000517905.1	-	21	2427	c.2383C>A	c.(2383-2385)Cca>Aca	p.P795T	ADAM19_ENST00000430702.2_Missense_Mutation_p.P528T|ADAM19_ENST00000394020.1_Missense_Mutation_p.P797T|ADAM19_ENST00000257527.4_Missense_Mutation_p.P795T			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	795					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.P795T(1)|p.P796T(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)			AGATAATCTGGAGGGGGCCGG	0.602																																						uc003lwz.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2383-2385)CCA>ACA		ADAM metallopeptidase domain 19 preproprotein							33.0	37.0	36.0					5																	156915440		2201	4297	6498	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915440G>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.2383C>A	5.37:g.156915440G>T	ENSP00000428654:p.Pro795Thr					ADAM19_uc003lww.1_Missense_Mutation_p.P528T|ADAM19_uc003lwy.2_Missense_Mutation_p.P394T|ADAM19_uc011ddr.1_Missense_Mutation_p.P726T	p.P795T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2447	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	795			Cytoplasmic (Potential).		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.2383C>A		.	.	.	.	.	.	.	.	.	.	G	14.38	2.517264	0.44763	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;T;T;T	0.01838	4.61;4.72;4.74;4.69	5.58	4.71	0.59529	.	0.000000	0.64402	D	0.000004	T	0.08980	0.0222	L	0.60455	1.87	0.34323	D	0.686848	D;D;P	0.89917	1.0;1.0;0.503	D;D;B	0.71870	0.975;0.946;0.328	T	0.38714	-0.9648	10	0.22109	T	0.4	.	15.0401	0.71785	0.0:0.1413:0.8587:0.0	.	795;795;528	Q9H013-2;Q9H013;E9PD32	.;ADA19_HUMAN;.	T	528;795;797;795	ENSP00000414088:P528T;ENSP00000257527:P795T;ENSP00000377588:P797T;ENSP00000428654:P795T	ENSP00000257527:P795T	P	-	1	0	ADAM19	156848018	1.000000	0.71417	0.981000	0.43875	0.062000	0.15995	4.208000	0.58486	1.350000	0.45770	0.491000	0.48974	CCA		PASS	0.602	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		26	46	26	46	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167589657	167589657	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:167589657C>A	ENST00000518659.1	+	13	2503	c.2464C>A	c.(2464-2466)Ctg>Atg	p.L822M	TENM2_ENST00000519204.1_Missense_Mutation_p.L701M|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.L646M|TENM2_ENST00000520394.1_Missense_Mutation_p.L590M|TENM2_ENST00000545108.1_Missense_Mutation_p.L822M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	822	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L655M(1)|p.L822M(1)|p.L701M(1)									GAGATGCACACTGGGTCAGAA	0.572																																						uc010jjd.2																			3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(2437-2439)CTG>ATG		odz, odd Oz/ten-m homolog 2							70.0	70.0	70.0					5																	167589657		2069	4206	6275	SO:0001583	missense	57451							g.chr5:167589657C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2464C>A	5.37:g.167589657C>A	ENSP00000429430:p.Leu822Met					ODZ2_uc003lzr.3_Missense_Mutation_p.L590M|ODZ2_uc003lzt.3_Missense_Mutation_p.L186M|ODZ2_uc010jje.2_Missense_Mutation_p.L84M|uc003lzs.1_Intron	p.L813M	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	13	2437	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2437C>A		.	.	.	.	.	.	.	.	.	.	C	15.54	2.864032	0.51482	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.66638	3.98;-0.22;3.98;3.98;3.98	5.42	5.42	0.78866	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.059160	0.64402	D	0.000001	T	0.59266	0.2181	L	0.37697	1.125	0.46336	D	0.998994	P;B;B	0.35383	0.498;0.365;0.112	B;B;B	0.33568	0.166;0.08;0.029	T	0.57717	-0.7763	10	0.32370	T	0.25	.	19.2383	0.93871	0.0:1.0:0.0:0.0	.	822;822;590	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	822;822;701;590;646	ENSP00000429430:L822M;ENSP00000438635:L822M;ENSP00000428964:L701M;ENSP00000427874:L590M;ENSP00000384905:L646M	ENSP00000384905:L646M	L	+	1	2	ODZ2	167522235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.973000	0.56845	2.525000	0.85131	0.655000	0.94253	CTG		PASS	0.572	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		7	30	7	30	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169461446	169461446	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:169461446G>T	ENST00000256935.8	+	35	3591	c.3511G>T	c.(3511-3513)Gtg>Ttg	p.V1171L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.V232L|DOCK2_ENST00000520908.1_Missense_Mutation_p.V663L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1171	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.V1171L(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCAAGTCGGTGGAGAACTT	0.572																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(3511-3513)GTG>TTG		dedicator of cytokinesis 2							107.0	102.0	104.0					5																	169461446		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169461446G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3511G>T	5.37:g.169461446G>T	ENSP00000256935:p.Val1171Leu					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.V663L	p.V1171L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		35	3591	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1171			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3511G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219101	0.58560	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.21543	2.0;2.0;2.0	5.63	5.63	0.86233	.	0.065397	0.64402	D	0.000009	T	0.14874	0.0359	N	0.25380	0.74	0.39411	D	0.966759	B;B	0.12630	0.006;0.003	B;B	0.13407	0.009;0.004	T	0.11991	-1.0565	10	0.18276	T	0.48	.	12.6264	0.56632	0.0763:0.0:0.9237:0.0	.	663;1171	E7ERW7;Q92608	.;DOCK2_HUMAN	L	1171;663;232	ENSP00000256935:V1171L;ENSP00000429283:V663L;ENSP00000438827:V232L	ENSP00000256935:V1171L	V	+	1	0	DOCK2	169394024	1.000000	0.71417	0.937000	0.37676	0.542000	0.35054	4.532000	0.60608	2.656000	0.90262	0.655000	0.94253	GTG		PASS	0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		12	45	12	45	---	---	---	---
NKX2-5	1482	broad.mit.edu	37	5	172659794	172659794	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:172659794G>T	ENST00000329198.4	-	2	1026	c.753C>A	c.(751-753)aaC>aaA	p.N251K		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	251	Ala/Pro-rich.				adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|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)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N251K(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGGGGTAGGCGTTATAACCGT	0.706																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	uc003mcm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(751-753)AAC>AAA		NK2 transcription factor related, locus 5							12.0	14.0	13.0					5																	172659794		2153	4217	6370	SO:0001583	missense	1482				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172659794G>T	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.753C>A	5.37:g.172659794G>T	ENSP00000327758:p.Asn251Lys						p.N251K	NM_004387	NP_004378	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	929	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	251			Ala/Pro-rich.		A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	37	c.753C>A	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327628	0.60743	.	.	ENSG00000183072	ENST00000329198	D	0.90732	-2.72	3.96	1.96	0.26148	.	0.531595	0.17381	N	0.176306	D	0.92760	0.7698	M	0.78049	2.395	0.80722	D	1	D	0.69078	0.997	P	0.58013	0.831	D	0.90735	0.4645	10	0.38643	T	0.18	.	10.2568	0.43403	0.1951:0.0:0.8049:0.0	.	251	P52952	NKX25_HUMAN	K	251	ENSP00000327758:N251K	ENSP00000327758:N251K	N	-	3	2	NKX2-5	172592400	1.000000	0.71417	0.999000	0.59377	0.680000	0.39746	3.369000	0.52365	0.868000	0.35678	0.549000	0.68633	AAC		PASS	0.706	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			5	15	5	15	---	---	---	---
LMAN2	10960	broad.mit.edu	37	5	176764785	176764785	+	Splice_Site	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:176764785C>T	ENST00000303127.7	-	4	639	c.435G>A	c.(433-435)ggG>ggA	p.G145G	RN7SL562P_ENST00000582768.1_RNA|LMAN2_ENST00000515209.1_Splice_Site_p.G145G|LMAN2_ENST00000506310.1_5'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	145	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.G145G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CAAACACAGGCCCTAGAATTA	0.522																																						uc003mge.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(433-435)GGG>GGA		lectin, mannose-binding 2 precursor							60.0	56.0	57.0					5																	176764785		2203	4300	6503	SO:0001630	splice_region_variant	10960				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	g.chr5:176764785C>T	U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"""chromosome 5 open reading frame 8"""	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.434-1G>A	5.37:g.176764785C>T						LMAN2_uc003mgd.2_Silent_p.G145G	p.G145G	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	672	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	145			Lumenal (Potential).|L-type lectin-like.		Q53HH1	Silent	SNP	ENST00000303127.7	37	c.435G>A	CCDS4417.1																																																																																				PASS	0.522	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816	Silent	3	31	3	31	---	---	---	---
ZNF454	285676	broad.mit.edu	37	5	178392666	178392666	+	Missense_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr5:178392666T>A	ENST00000320129.3	+	5	1564	c.1261T>A	c.(1261-1263)Ttt>Att	p.F421I	ZNF454_ENST00000519564.1_Missense_Mutation_p.F421I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	421					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.F421I(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)		TGAGAAAGCCTTTCGGGACCA	0.428																																						uc003mjo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1261-1263)TTT>ATT		zinc finger protein 454							68.0	69.0	69.0					5																	178392666		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392666T>A	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.1261T>A	5.37:g.178392666T>A	ENSP00000326249:p.Phe421Ile					ZNF454_uc010jkz.1_Missense_Mutation_p.F421I	p.F421I	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	1532	+	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)	421			C2H2-type 9.		Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.1261T>A	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715907	0.48622	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.47528	0.84;0.84	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000631	T	0.75042	0.3796	H	0.94385	3.53	0.39670	D	0.970746	D	0.76494	0.999	D	0.85130	0.997	T	0.82671	-0.0342	10	0.87932	D	0	-7.3668	11.624	0.51134	0.0:0.0:0.0:1.0	.	421	Q8N9F8	ZN454_HUMAN	I	421	ENSP00000326249:F421I;ENSP00000430354:F421I	ENSP00000326249:F421I	F	+	1	0	ZNF454	178325272	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	4.328000	0.59253	1.919000	0.55581	0.528000	0.53228	TTT		PASS	0.428	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		26	18	26	18	---	---	---	---
C6orf201	404220	broad.mit.edu	37	6	4099236	4099236	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:4099236G>A	ENST00000380175.4	+	3	853	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C6orf201_ENST00000333388.5_Missense_Mutation_p.E33K|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000430835.2_Missense_Mutation_p.E30K	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	30								p.E30K(1)		central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ATTACCAGGTGAGAATCCTGA	0.403																																						uc003mwa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)GAG>AAG		hypothetical protein LOC404220							82.0	75.0	77.0					6																	4099236		1853	4099	5952	SO:0001583	missense	404220							g.chr6:4099236G>A	BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.88G>A	6.37:g.4099236G>A	ENSP00000420610:p.Glu30Lys					C6orf201_uc003mvz.3_RNA|C6orf201_uc011dhw.1_Missense_Mutation_p.E30K|C6orf201_uc003mwb.3_RNA	p.E30K	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN			3	856	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	30					A6NLI6|Q6NXN5	Missense_Mutation	SNP	ENST00000380175.4	37	c.88G>A	CCDS43419.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837773	0.50951	.	.	ENSG00000185689	ENST00000333388;ENST00000541127;ENST00000380175;ENST00000427996;ENST00000451679;ENST00000436110;ENST00000430835	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.02	-1.77	0.07982	.	0.524159	0.16040	N	0.232462	T	0.05364	0.0142	N	0.24115	0.695	0.19575	N	0.999961	B;B	0.11235	0.004;0.004	B;B	0.14578	0.011;0.011	T	0.29397	-1.0013	10	0.72032	D	0.01	.	1.308	0.02092	0.2547:0.2968:0.3135:0.135	.	30;30	B4DXB2;Q7Z4U5	.;CF201_HUMAN	K	33;30;30;33;30;30;30	ENSP00000330777:E33K;ENSP00000420610:E30K;ENSP00000419568:E33K;ENSP00000420763:E30K;ENSP00000417981:E30K;ENSP00000396912:E30K	ENSP00000330777:E33K	E	+	1	0	C6orf201	4044235	0.004000	0.15560	0.199000	0.23439	0.431000	0.31685	-0.443000	0.06862	-0.144000	0.11314	-0.145000	0.13849	GAG		PASS	0.403	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000314019.2	NM_001085401		37	38	37	38	---	---	---	---
ECI2	10455	broad.mit.edu	37	6	4131020	4131020	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:4131020G>T	ENST00000380118.3	-	3	329	c.293C>A	c.(292-294)gCc>gAc	p.A98D	ECI2_ENST00000361538.2_Missense_Mutation_p.A68D|ECI2_ENST00000380125.2_Missense_Mutation_p.A68D|ECI2_ENST00000465828.1_Missense_Mutation_p.A68D|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000380175.4_3'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	98	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)	p.A98D(1)|p.A68D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GCTGCCAAGGGCATTCCATGC	0.453																																						uc003mwf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(292-294)GCC>GAC		peroxisomal D3,D2-enoyl-CoA isomerase isoform 2							160.0	145.0	150.0					6																	4131020		2203	4300	6503	SO:0001583	missense	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4131020G>T	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.293C>A	6.37:g.4131020G>T	ENSP00000369461:p.Ala98Asp					PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Missense_Mutation_p.A68D|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA	p.A98D	NM_206836	NP_996667	O75521	ECI2_HUMAN			3	330	-	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	98			ACB.		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	c.293C>A	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245120	0.59103	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	6.06	4.25	0.50352	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (3);	0.413542	0.28393	N	0.015513	T	0.12050	0.0293	L	0.55834	1.745	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.03130	-1.1069	10	0.37606	T	0.19	.	11.0599	0.47942	0.0:0.1391:0.7164:0.1445	.	98	O75521	ECI2_HUMAN	D	98;68;68;68;145	ENSP00000369461:A98D;ENSP00000369468:A68D;ENSP00000354737:A68D;ENSP00000420309:A68D;ENSP00000417459:A145D	ENSP00000354737:A68D	A	-	2	0	ECI2	4076019	1.000000	0.71417	0.678000	0.29963	0.983000	0.72400	6.327000	0.72910	0.854000	0.35336	0.655000	0.94253	GCC		PASS	0.453	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		78	118	78	118	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15496845	15496845	+	Silent	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:15496845G>T	ENST00000341776.2	+	7	1633	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A	JARID2_ENST00000541660.1_Silent_p.A425A|JARID2_ENST00000397311.3_Silent_p.A291A	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	463					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A463A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGAAAGGGGCGGCTGGCCCCG	0.667																																						uc003nbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(1387-1389)GCG>GCT		jumonji, AT rich interactive domain 2 protein							10.0	14.0	13.0					6																	15496845		2152	4232	6384	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15496845G>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1389G>T	6.37:g.15496845G>T						JARID2_uc011diu.1_Silent_p.A327A|JARID2_uc011div.1_Silent_p.A291A|JARID2_uc011diw.1_Silent_p.A425A	p.A463A	NM_004973	NP_004964	Q92833	JARD2_HUMAN			7	1633	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	463					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.1389G>T	CCDS4533.1																																																																																				PASS	0.667	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		15	21	15	21	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28543242	28543242	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:28543242G>A	ENST00000452236.2	-	3	1857	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.P414S(2)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ACTTCCGTAGGCCTTTTAGAC	0.383																																						uc003nlo.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(1)	1						c.(1240-1242)CCT>TCT		SCAN domain containing 3							43.0	46.0	45.0					6																	28543242		2198	4300	6498	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543242G>A																												ENST00000452236.2:c.1240C>T	6.37:g.28543242G>A	ENSP00000395259:p.Pro414Ser						p.P414S	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	1858	-			414			Integrase catalytic.			Missense_Mutation	SNP	ENST00000452236.2	37	c.1240C>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	8.952	0.968410	0.18659	.	.	ENSG00000232040	ENST00000452236	T	0.38401	1.14	3.45	0.565	0.17309	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.07503	0.0189	L	0.34521	1.04	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.32693	-0.9897	9	0.28530	T	0.3	.	0.6077	0.00755	0.2346:0.1943:0.3716:0.1995	.	414	Q6R2W3	SCND3_HUMAN	S	414	ENSP00000395259:P414S	ENSP00000395259:P414S	P	-	1	0	SCAND3	28651221	0.008000	0.16893	0.026000	0.17262	0.272000	0.26649	0.380000	0.20602	0.265000	0.21872	0.655000	0.94253	CCT		PASS	0.383	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			13	63	13	63	---	---	---	---
OR2J3	442186	broad.mit.edu	37	6	29080239	29080239	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:29080239C>T	ENST00000377169.1	+	1	572	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S191*(1)|p.S191L(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTGCGATTATCGTGTGTTGAT	0.458																																						uc011dll.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)		0						c.(571-573)TCG>TTG		olfactory receptor, family 2, subfamily J,							98.0	109.0	105.0					6																	29080239		1322	2599	3921	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080239C>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.572C>T	6.37:g.29080239C>T	ENSP00000366374:p.Ser191Leu						p.S191L	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	572	+			191			Extracellular (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.572C>T	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	5.063	0.197217	0.09599	.	.	ENSG00000204701	ENST00000377169	T	0.00291	8.27	2.78	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	M	0.88842	2.985	0.09310	N	1	P	0.44946	0.846	B	0.39068	0.289	T	0.14254	-1.0479	9	0.87932	D	0	.	9.3348	0.38043	0.0:0.8858:0.0:0.1142	.	191	O76001	OR2J3_HUMAN	L	191	ENSP00000366374:S191L	ENSP00000366374:S191L	S	+	2	0	OR2J3	29188218	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	0.628000	0.24522	0.491000	0.27793	-0.436000	0.05848	TCG		PASS	0.458	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			11	108	11	108	---	---	---	---
OR12D2	26529	broad.mit.edu	37	6	29365010	29365010	+	Silent	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:29365010T>C	ENST00000383555.2	+	1	595	c.534T>C	c.(532-534)gaT>gaC	p.D178D	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D178D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCTCTGTGATATTAAGCCAT	0.478																																						uc003nmf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(532-534)GAT>GAC		olfactory receptor, family 12, subfamily D,							167.0	169.0	168.0					6																	29365010		1511	2709	4220	SO:0001819	synonymous_variant	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365010T>C		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.534T>C	6.37:g.29365010T>C							p.D178D	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	595	+			178			Extracellular (Potential).		B0S862|Q5SUN9|Q6IET9	Silent	SNP	ENST00000383555.2	37	c.534T>C	CCDS4659.1																																																																																				PASS	0.478	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			20	191	20	191	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29641277	29641277	+	IGR	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:29641277C>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.S184I|ZFP57_ENST00000488757.1_Missense_Mutation_p.S204I|ZFP57_ENST00000376883.1_Missense_Mutation_p.S184I	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S184I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTGACTGCAGCTGTTAGTCAG	0.537																																						uc011dlw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(610-612)AGC>ATC		zinc finger protein 57 homolog							101.0	113.0	109.0					6																	29641277		1309	2581	3890	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641277C>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641277C>A						ZFP57_uc003nnl.3_Missense_Mutation_p.S184I	p.S204I	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	762	-			120			C2H2-type 2.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.611G>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	8.586	0.883502	0.17467	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.27890	1.64;1.64;1.64	3.88	-1.57	0.08506	.	0.785958	0.11181	N	0.590926	T	0.11324	0.0276	L	0.41710	1.295	0.09310	N	1	P;P	0.39157	0.662;0.662	B;B	0.42422	0.387;0.387	T	0.20240	-1.0281	10	0.62326	D	0.03	-4.4867	6.0618	0.19842	0.0:0.4716:0.3066:0.2217	.	204;184	Q9NU63-3;Q9NU63-2	.;.	I	204;184;184	ENSP00000418259:S204I;ENSP00000366078:S184I;ENSP00000366080:S184I	ENSP00000366078:S184I	S	-	2	0	ZFP57	29749256	0.000000	0.05858	0.002000	0.10522	0.116000	0.19942	-3.667000	0.00398	-0.349000	0.08274	0.655000	0.94253	AGC		PASS	0.537	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		13	123	13	123	---	---	---	---
MUC21	394263	broad.mit.edu	37	6	30954918	30954918	+	Silent	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:30954918A>G	ENST00000376296.3	+	2	1207	c.966A>G	c.(964-966)acA>acG	p.T322T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	322	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T322T(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACTCCAGCACAACCTCCAGTG	0.617																																						uc003nsh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(964-966)ACA>ACG		mucin 21 precursor							144.0	143.0	144.0					6																	30954918		2202	4300	6502	SO:0001819	synonymous_variant	394263					integral to membrane|plasma membrane		g.chr6:30954918A>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.966A>G	6.37:g.30954918A>G						MUC21_uc003nsi.1_RNA	p.T322T	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	1217	+			322			Ser-rich.|20.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	c.966A>G	CCDS34388.1																																																																																				PASS	0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		5	121	5	121	---	---	---	---
C6orf15	29113	broad.mit.edu	37	6	31079265	31079265	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:31079265C>A	ENST00000259870.3	-	2	874	c.871G>T	c.(871-873)Ggt>Tgt	p.G291C		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	291	Pro-rich.		G -> D (in dbSNP:rs2233984).		extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.G291C(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TTATTGATACCTGGGTATAGA	0.527																																						uc003nsk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(871-873)GGT>TGT		STG protein precursor							55.0	58.0	57.0					6																	31079265		1776	3530	5306	SO:0001583	missense	29113							g.chr6:31079265C>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.871G>T	6.37:g.31079265C>A	ENSP00000259870:p.Gly291Cys						p.G291C	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	871	-			291			Pro-rich.		B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	c.871G>T	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341138	0.60963	.	.	ENSG00000204542	ENST00000259870	T	0.09445	2.98	4.49	4.49	0.54785	.	0.132959	0.34411	N	0.003986	T	0.21267	0.0512	M	0.69823	2.125	0.31864	N	0.620565	D	0.89917	1.0	D	0.72625	0.978	T	0.00888	-1.1526	10	0.62326	D	0.03	-11.2596	14.7024	0.69164	0.0:1.0:0.0:0.0	.	291	Q6UXA7	CF015_HUMAN	C	291	ENSP00000259870:G291C	ENSP00000259870:G291C	G	-	1	0	C6orf15	31187244	0.578000	0.26717	0.201000	0.23476	0.048000	0.14542	1.745000	0.38278	2.321000	0.78463	0.643000	0.83706	GGT		PASS	0.527	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		36	85	36	85	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34826796	34826796	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:34826796C>A	ENST00000192788.5	+	14	2834	c.2663C>A	c.(2662-2664)cCc>cAc	p.P888H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P888H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	888							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.P888H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CATCCTGCACCCGGTGCTGTC	0.522																																						uc003oju.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2662-2664)CCC>CAC		ICBP90 binding protein 1							59.0	59.0	59.0					6																	34826796		2064	4234	6298	SO:0001583	missense	54887							g.chr6:34826796C>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2663C>A	6.37:g.34826796C>A	ENSP00000192788:p.Pro888His					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.P888H	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			14	2897	+			888					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.2663C>A	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540204	0.27563	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.29917	1.55;1.55	5.7	5.7	0.88788	.	0.319926	0.30940	N	0.008569	T	0.26666	0.0652	L	0.43923	1.385	0.40143	D	0.976851	P	0.48503	0.911	P	0.45712	0.491	T	0.03619	-1.1019	10	0.72032	D	0.01	-3.8988	19.8338	0.96646	0.0:1.0:0.0:0.0	.	888	Q6BDS2	URFB1_HUMAN	H	888	ENSP00000192788:P888H;ENSP00000400628:P888H	ENSP00000192788:P888H	P	+	2	0	UHRF1BP1	34934774	0.995000	0.38212	0.021000	0.16686	0.012000	0.07955	4.193000	0.58385	2.692000	0.91855	0.591000	0.81541	CCC		PASS	0.522	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		15	78	15	78	---	---	---	---
TREM1	54210	broad.mit.edu	37	6	41243864	41243864	+	Nonstop_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:41243864T>A	ENST00000244709.4	-	4	767	c.704A>T	c.(703-705)tAg>tTg	p.*235L	TREM1_ENST00000334475.6_3'UTR|TREM1_ENST00000589614.1_Intron	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	0					blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.*235L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTCGTGGGCCTAGGGTACAAA	0.527																																						uc003oqf.1																			1	Nonstop extension(1)		lung(1)	breast(1)	1						c.(703-705)TAG>TTG		triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)						150.0	127.0	134.0					6																	41243864		2203	4300	6503	SO:0001578	stop_lost	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41243864T>A	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.704A>T	6.37:g.41243864T>A						TREM1_uc003oqg.1_3'UTR	p.*235L	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN			4	768	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		235					B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Nonstop_Mutation	SNP	ENST00000244709.4	37	c.704A>T	CCDS4854.1	.	.	.	.	.	.	.	.	.	.	T	9.993	1.231253	0.22626	.	.	ENSG00000124731	ENST00000244709	.	.	.	4.74	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0051	0.24831	0.0:0.1022:0.0:0.8978	.	.	.	.	L	235	.	.	X	-	2	0	TREM1	41351842	0.031000	0.19500	0.011000	0.14972	0.014000	0.08584	1.230000	0.32612	0.959000	0.37980	0.533000	0.62120	TAG		PASS	0.527	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		7	62	7	62	---	---	---	---
KLC4	89953	broad.mit.edu	37	6	43040989	43040989	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:43040989G>T	ENST00000394056.2	+	15	2153	c.1658G>T	c.(1657-1659)gGc>gTc	p.G553V	KLC4_ENST00000394058.1_Missense_Mutation_p.G553V|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000453940.2_Missense_Mutation_p.G476V|KLC4_ENST00000479388.1_Missense_Mutation_p.G553V|KLC4_ENST00000347162.5_Missense_Mutation_p.G553V|KLC4_ENST00000259708.3_Missense_Mutation_p.G571V			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	553						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.G553V(1)		endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CAGAGGAGTGGCTCTCTTGGC	0.557																																						uc003otv.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1657-1659)GGC>GTC		kinesin-like 8 isoform a							54.0	51.0	52.0					6																	43040989		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43040989G>T	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1658G>T	6.37:g.43040989G>T	ENSP00000377620:p.Gly553Val					KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.G476V|KLC4_uc003otw.1_Missense_Mutation_p.G571V|KLC4_uc003otx.1_Missense_Mutation_p.G553V|KLC4_uc003oty.1_Missense_Mutation_p.G553V|KLC4_uc003otz.1_Missense_Mutation_p.G553V	p.G553V	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		14	1735	+			553					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.1658G>T	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072684	0.55646	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	D;D;D;D;D;D	0.82711	-1.6;-1.64;-1.6;-1.6;-1.6;-1.6	5.69	4.77	0.60923	.	0.199381	0.35805	N	0.002980	T	0.70281	0.3206	L	0.43923	1.385	0.80722	D	1	B;P;B	0.36144	0.18;0.539;0.404	B;B;B	0.36134	0.044;0.218;0.109	T	0.77151	-0.2693	10	0.87932	D	0	-9.9924	12.7086	0.57076	0.0:0.0:0.8354:0.1646	.	476;571;553	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	V	553;476;571;553;553;553	ENSP00000340221:G553V;ENSP00000395806:G476V;ENSP00000259708:G571V;ENSP00000418031:G553V;ENSP00000377620:G553V;ENSP00000377622:G553V	ENSP00000259708:G571V	G	+	2	0	KLC4	43148967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.193000	0.77780	2.691000	0.91804	0.561000	0.74099	GGC		PASS	0.557	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		14	27	14	27	---	---	---	---
TMEM63B	55362	broad.mit.edu	37	6	44122607	44122607	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:44122607A>G	ENST00000259746.9	+	24	2669	c.2486A>G	c.(2485-2487)gAg>gGg	p.E829G	TMEM63B_ENST00000323267.6_Missense_Mutation_p.E829G			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	829					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.E829G(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ATAGAGAATGAGATTCACCAG	0.562																																						uc003owr.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(2485-2487)GAG>GGG		transmembrane protein 63B							33.0	34.0	33.0					6																	44122607		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44122607A>G	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.2486A>G	6.37:g.44122607A>G	ENSP00000259746:p.Glu829Gly					TMEM63B_uc003ows.2_Missense_Mutation_p.E732G|TMEM63B_uc010jyz.2_RNA	p.E829G	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		24	2550	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		829					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.2486A>G	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.67|19.67	3.870505|3.870505	0.72065|0.72065	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000323267|ENST00000371893	T;T|.	0.28069|.	1.63;1.63|.	3.78|3.78	3.78|3.78	0.43462|0.43462	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.39860|0.39860	0.1094|0.1094	L|L	0.38175|0.38175	1.15|1.15	0.44207|0.44207	D|D	0.997031|0.997031	D|.	0.71674|.	0.998|.	D|.	0.72982|.	0.979|.	T|T	0.29212|0.29212	-1.0019|-1.0019	10|5	0.72032|.	D|.	0.01|.	.|.	10.3674|10.3674	0.44033|0.44033	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	829|.	Q5T3F8|.	TM63B_HUMAN|.	G|G	829|758	ENSP00000259746:E829G;ENSP00000327154:E829G|.	ENSP00000259746:E829G|.	E|R	+|+	2|1	0|2	TMEM63B|TMEM63B	44230585|44230585	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.932000|0.932000	0.56968|0.56968	8.346000|8.346000	0.90060|0.90060	1.597000|1.597000	0.50072|0.50072	0.260000|0.260000	0.18958|0.18958	GAG|AGA		PASS	0.562	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		16	42	16	42	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47678598	47678598	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:47678598C>A	ENST00000283303.2	+	4	534	c.276C>A	c.(274-276)agC>agA	p.S92R	GPR115_ENST00000371220.1_Missense_Mutation_p.S149R|GPR115_ENST00000327753.3_Missense_Mutation_p.S92R	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	92					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.S92R(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CATGTACAAGCCTTTCTGTGG	0.393																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(274-276)AGC>AGA		G-protein coupled receptor 115 precursor							100.0	104.0	103.0					6																	47678598		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47678598C>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.276C>A	6.37:g.47678598C>A	ENSP00000283303:p.Ser92Arg					GPR115_uc003oyz.1_Missense_Mutation_p.S149R|GPR115_uc003ozb.1_Missense_Mutation_p.S90R	p.S92R	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			4	534	+			92			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.276C>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867590	0.51588	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.35973	1.5;1.28;1.28	5.37	-1.51	0.08664	.	0.069568	0.64402	D	0.000010	T	0.39036	0.1063	M	0.69823	2.125	0.30348	N	0.785028	D	0.71674	0.998	D	0.68621	0.959	T	0.44128	-0.9348	10	0.72032	D	0.01	-26.3181	11.7019	0.51575	0.0:0.4952:0.0:0.5048	.	92	Q8IZF3	GP115_HUMAN	R	149;92;92	ENSP00000360264:S149R;ENSP00000328319:S92R;ENSP00000283303:S92R	ENSP00000283303:S92R	S	+	3	2	GPR115	47786557	0.968000	0.33430	0.984000	0.44739	0.788000	0.44548	-0.197000	0.09518	-0.383000	0.07858	-1.731000	0.00696	AGC		PASS	0.393	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		28	37	28	37	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47846323	47846323	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:47846323G>T	ENST00000339488.4	-	3	2290	c.2257C>A	c.(2257-2259)Caa>Aaa	p.Q753K		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	753						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.Q753K(1)									CCATGGTCTTGCAAGGAGCTT	0.428																																						uc011dwm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2206-2208)CAA>AAA		hypothetical protein LOC442213							92.0	85.0	88.0					6																	47846323		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846323G>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2257C>A	6.37:g.47846323G>T	ENSP00000341914:p.Gln753Lys					C6orf138_uc011dwn.1_Missense_Mutation_p.Q500K	p.Q736K	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	2291	-			753					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2206C>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339070	0.24253	.	.	ENSG00000244694	ENST00000339488	D	0.84660	-1.88	6.01	6.01	0.97437	.	0.113463	0.64402	D	0.000013	T	0.58652	0.2137	N	0.16478	0.41	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.57394	-0.7819	10	0.06365	T	0.9	.	15.2612	0.73625	0.0:0.0:0.8598:0.1402	.	753	Q6ZW05	CF138_HUMAN	K	753	ENSP00000341914:Q753K	ENSP00000341914:Q753K	Q	-	1	0	C6orf138	47954282	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.918000	0.56432	2.861000	0.98227	0.650000	0.86243	CAA		PASS	0.428	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		3	53	3	53	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70981368	70981368	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:70981368A>G	ENST00000357250.6	-	14	1291	c.1133T>C	c.(1132-1134)gTa>gCa	p.V378A	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.V135A|COL9A1_ENST00000320755.7_Missense_Mutation_p.V135A	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	378	Collagen-like 3.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.V378A(1)|p.V135A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AACAGGTCCTACACGGCCAAG	0.408																																						uc003pfg.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1132-1134)GTA>GCA		alpha 1 type IX collagen isoform 1 precursor							58.0	56.0	57.0					6																	70981368		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70981368A>G		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1133T>C	6.37:g.70981368A>G	ENSP00000349790:p.Val378Ala					COL9A1_uc003pfe.3_5'UTR|COL9A1_uc003pff.3_Missense_Mutation_p.V135A	p.V378A	NM_001851	NP_001842	P20849	CO9A1_HUMAN			14	1292	-			378			Triple-helical region (COL3).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1133T>C	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.996432	0.35226	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.96168	-3.93;-3.2;-3.93	5.9	4.74	0.60224	.	0.340773	0.34133	N	0.004228	T	0.78842	0.4347	N	0.12831	0.26	0.23144	N	0.998226	B;B	0.25007	0.116;0.004	B;B	0.29267	0.1;0.006	T	0.67221	-0.5725	10	0.08837	T	0.75	.	9.5996	0.39596	0.9199:0.0:0.0801:0.0	.	378;135	P20849;P20849-2	CO9A1_HUMAN;.	A	378;135;135	ENSP00000349790:V378A;ENSP00000315252:V135A;ENSP00000359530:V135A	ENSP00000315252:V135A	V	-	2	0	COL9A1	71038089	1.000000	0.71417	0.199000	0.23439	0.482000	0.33219	3.452000	0.52971	1.068000	0.40764	0.528000	0.53228	GTA		PASS	0.408	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			10	38	10	38	---	---	---	---
DSE	29940	broad.mit.edu	37	6	116756865	116756865	+	Nonsense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:116756865A>T	ENST00000331677.3	+	7	1678	c.1234A>T	c.(1234-1236)Aga>Tga	p.R412*	DSE_ENST00000537543.1_Nonsense_Mutation_p.R431*|DSE_ENST00000359564.2_Nonsense_Mutation_p.R412*|DSE_ENST00000452085.3_Nonsense_Mutation_p.R412*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	412					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.R412*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGAAATCAATAGATCTTTCCT	0.433																																						uc003pws.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1234-1236)AGA>TGA		dermatan sulfate epimerase precursor							86.0	81.0	83.0					6																	116756865		2203	4300	6503	SO:0001587	stop_gained	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116756865A>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1234A>T	6.37:g.116756865A>T	ENSP00000332151:p.Arg412*					DSE_uc011ebg.1_Nonsense_Mutation_p.R431*|DSE_uc003pwt.2_Nonsense_Mutation_p.R412*|DSE_uc003pwu.2_Nonsense_Mutation_p.R79*	p.R412*	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	6	1428	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	412					Q5R3K6	Nonsense_Mutation	SNP	ENST00000331677.3	37	c.1234A>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	A	37	6.019127	0.97205	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	.	.	.	5.99	3.43	0.39272	.	0.096756	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.4328	12.5562	0.56254	0.7377:0.2623:0.0:0.0	.	.	.	.	X	412;431;412;412	.	ENSP00000332151:R412X	R	+	1	2	DSE	116863558	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	2.526000	0.45607	1.054000	0.40438	0.533000	0.62120	AGA		PASS	0.433	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		7	67	7	67	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123892207	123892207	+	Silent	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:123892207C>T	ENST00000398178.3	-	2	114	c.93G>A	c.(91-93)gtG>gtA	p.V31V	TRDN_ENST00000542443.1_Silent_p.V31V|TRDN_ENST00000334268.4_Silent_p.V31V|TRDN_ENST00000546248.1_Silent_p.V31V	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	31					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.V31V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCCTCTTCAGCACTTTTCCGG	0.463																																						uc003pzj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(91-93)GTG>GTA		triadin							101.0	103.0	102.0					6																	123892207		1993	4160	6153	SO:0001819	synonymous_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123892207C>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.93G>A	6.37:g.123892207C>T						TRDN_uc003pzk.1_Silent_p.V31V|TRDN_uc003pzl.1_Silent_p.V31V|TRDN_uc010ken.2_Silent_p.V31V|TRDN_uc010keo.1_Silent_p.V31V	p.V31V	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	2	115	-			31			Cytoplasmic.		A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	c.93G>A	CCDS55053.1																																																																																				PASS	0.463	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				26	66	26	66	---	---	---	---
C6orf58	352999	broad.mit.edu	37	6	127912763	127912764	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:127912763_127912764CC>AA	ENST00000329722.7	+	6	1001_1002	c.989_990CC>AA	c.(988-990)tCC>tAA	p.S330*		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	330						extracellular vesicular exosome (GO:0070062)		p.S330Y(1)|p.S330*(1)|p.S330S(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GGAAATAACTCCTGAAACATTT	0.267																																						uc003qbh.2																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(3)		0						c.(988-990)TCC>TAC|c.(988-990)TCC>TCA		hypothetical protein LOC352999 precursor																																				SO:0001587	stop_gained	352999					extracellular region		g.chr6:127912763C>A|g.chr6:127912764C>A	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	Exception_encountered	6.37:g.127912763_127912764delinsAA	ENSP00000328069:p.Ser330*						p.S330Y|p.S330S	NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	6	1001|1002	+			330					B4E1I0|Q5VUP2	Missense_Mutation|Silent	SNP	ENST00000329722.7	37	c.989C>A|c.990C>A	CCDS34533.1																																																																																				PASS	0.267	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		8|9	22|21	8	21	---	---	---	---
TMEM200A	114801	broad.mit.edu	37	6	130761578	130761578	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:130761578C>A	ENST00000296978.3	+	3	882	c.11C>A	c.(10-12)aCt>aAt	p.T4N	TMEM200A_ENST00000545622.1_Missense_Mutation_p.T4N|TMEM200A_ENST00000392429.1_Missense_Mutation_p.T4N	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	4						integral component of membrane (GO:0016021)		p.T4N(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATGATAGCAACTGGTGGAGTG	0.448																																						uc003qca.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(10-12)ACT>AAT		transmembrane protein 200A							85.0	93.0	90.0					6																	130761578		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130761578C>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.11C>A	6.37:g.130761578C>A	ENSP00000296978:p.Thr4Asn					TMEM200A_uc010kfh.2_Missense_Mutation_p.T4N|TMEM200A_uc010kfi.2_Missense_Mutation_p.T4N|TMEM200A_uc003qcb.2_Missense_Mutation_p.T4N	p.T4N	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	882	+			4			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.11C>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347692	0.82022	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.3	5.3	0.74995	.	0.051252	0.85682	D	0.000000	T	0.60495	0.2273	L	0.32530	0.975	0.58432	D	0.999999	D	0.76494	0.999	D	0.64144	0.922	T	0.65030	-0.6267	9	0.87932	D	0	-20.7848	19.3121	0.94192	0.0:1.0:0.0:0.0	.	4	Q86VY9	T200A_HUMAN	N	4	.	ENSP00000296978:T4N	T	+	2	0	TMEM200A	130803271	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	6.975000	0.76128	2.623000	0.88846	0.650000	0.86243	ACT		PASS	0.448	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		38	79	38	79	---	---	---	---
ARG1	383	broad.mit.edu	37	6	131900371	131900371	+	Missense_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:131900371T>A	ENST00000368087.3	+	3	390	c.251T>A	c.(250-252)gTg>gAg	p.V84E	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.V92E|ARG1_ENST00000498260.1_3'UTR			P05089	ARGI1_HUMAN	arginase 1	84					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)	p.V84E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	GCTGGCAAGGTGGCAGAAGTC	0.512																																						uc003qcp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)GTG>GAG		arginase 1	L-Ornithine(DB00129)						71.0	72.0	72.0					6																	131900371		2203	4300	6503	SO:0001583	missense	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131900371T>A		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.251T>A	6.37:g.131900371T>A	ENSP00000357066:p.Val84Glu					ARG1_uc003qco.1_Missense_Mutation_p.V84E|ARG1_uc010kfm.1_Missense_Mutation_p.V92E|MED23_uc003qcq.2_Intron	p.V84E	NM_000045	NP_000036	P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	3	309	+	Breast(56;0.0753)		84					A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	ENST00000368087.3	37	c.251T>A	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.836901	0.71373	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	D;D;D	0.86865	-2.18;-2.18;-2.18	6.17	6.17	0.99709	Ureohydrolase domain (1);	0.054807	0.64402	D	0.000001	D	0.95758	0.8620	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97208	0.9869	10	0.87932	D	0	-16.8581	14.7743	0.69713	0.0:0.0:0.0:1.0	.	92;84	P05089-2;P05089	.;ARGI1_HUMAN	E	84;92;84	ENSP00000357066:V84E;ENSP00000349446:V92E;ENSP00000417694:V84E	ENSP00000349446:V92E	V	+	2	0	ARG1	131942064	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	7.115000	0.77110	2.371000	0.80710	0.533000	0.62120	GTG		PASS	0.512	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			15	42	15	42	---	---	---	---
TAAR6	319100	broad.mit.edu	37	6	132891689	132891689	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:132891689G>T	ENST00000275198.1	+	1	229	c.229G>T	c.(229-231)Gct>Tct	p.A77S		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	77					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.A77S(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCTGGCCTGCGCTGATTTCTT	0.512																																						uc011eck.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(229-231)GCT>TCT		trace amine associated receptor 6							178.0	158.0	165.0					6																	132891689		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891689G>T	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.229G>T	6.37:g.132891689G>T	ENSP00000275198:p.Ala77Ser						p.A77S	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	229	+	Breast(56;0.112)		77			Helical; Name=2; (Potential).		Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.229G>T	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444140	0.43429	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.76839	-1.05	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.250207	0.27113	N	0.020868	T	0.78842	0.4347	M	0.77103	2.36	0.31690	N	0.642017	P	0.43169	0.8	P	0.52109	0.69	T	0.78866	-0.2035	10	0.54805	T	0.06	-1.9673	11.8745	0.52539	0.0798:0.0:0.9202:0.0	.	77	Q96RI8	TAAR6_HUMAN	S	77;60	ENSP00000275198:A77S	ENSP00000275198:A77S	A	+	1	0	TAAR6	132933382	0.056000	0.20664	0.999000	0.59377	0.081000	0.17604	0.659000	0.24994	2.575000	0.86900	0.563000	0.77884	GCT		PASS	0.512	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		41	99	41	99	---	---	---	---
NMBR	4829	broad.mit.edu	37	6	142409428	142409428	+	Missense_Mutation	SNP	T	T	A	rs376912685		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:142409428T>A	ENST00000258042.1	-	1	508	c.368A>T	c.(367-369)cAg>cTg	p.Q123L	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	123					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.Q123L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGAAGTGAGCTGGATGACAGG	0.587																																						uc003qiu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(1)	4						c.(367-369)CAG>CTG		neuromedin B receptor							83.0	65.0	71.0					6																	142409428		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409428T>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.368A>T	6.37:g.142409428T>A	ENSP00000258042:p.Gln123Leu						p.Q123L	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	509	-	Breast(32;0.155)		123			Helical; Name=3; (Potential).		E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.368A>T	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.020141	0.93462	.	.	ENSG00000135577	ENST00000258042	T	0.17370	2.28	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	M	0.80028	2.48	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.32402	-0.9908	10	0.87932	D	0	-16.1061	16.0816	0.81007	0.0:0.0:0.0:1.0	.	123	P28336	NMBR_HUMAN	L	123	ENSP00000258042:Q123L	ENSP00000258042:Q123L	Q	-	2	0	NMBR	142451121	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.934000	0.87649	2.266000	0.75297	0.528000	0.53228	CAG		PASS	0.587	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			14	24	14	24	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165848811	165848811	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr6:165848811G>T	ENST00000366882.1	-	7	575	c.421C>A	c.(421-423)Cct>Act	p.P141T	PDE10A_ENST00000354448.4_Missense_Mutation_p.P141T|PDE10A_ENST00000539869.2_Missense_Mutation_p.P151T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	141	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.P141T(1)|p.P141N(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GGCCCAGCAGGGATGAGGCGG	0.493																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(421-423)CCT>ACT		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						150.0	130.0	137.0					6																	165848811		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165848811G>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.421C>A	6.37:g.165848811G>T	ENSP00000355847:p.Pro141Thr					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.P71T|PDE10A_uc003quo.2_Missense_Mutation_p.P151T	p.P141T	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	7	662	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	141			GAF 1.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.421C>A		.	.	.	.	.	.	.	.	.	.	G	16.02	3.003391	0.54254	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.74947	-0.89;-0.89	5.32	5.32	0.75619	GAF (1);	0.155175	0.64402	D	0.000012	T	0.64114	0.2569	L	0.56769	1.78	0.53688	D	0.999971	P;B	0.38048	0.616;0.379	P;B	0.45377	0.478;0.255	T	0.61710	-0.7007	10	0.13853	T	0.58	.	12.693	0.56985	0.0759:0.0:0.9241:0.0	.	151;141	Q9ULW9;Q9Y233	.;PDE10_HUMAN	T	141;169;151;141;140	ENSP00000355847:P141T;ENSP00000346435:P141T	ENSP00000341187:P151T	P	-	1	0	PDE10A	165768801	1.000000	0.71417	0.942000	0.38095	0.782000	0.44232	7.631000	0.83237	2.638000	0.89438	0.460000	0.39030	CCT		PASS	0.493	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			13	52	13	52	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7557459	7557459	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:7557459G>C	ENST00000399429.3	-	7	963	c.823C>G	c.(823-825)Caa>Gaa	p.Q275E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	275					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q275E(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTCCTTTTTGAGCGTTGCCC	0.398																																						uc003src.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(823-825)CAA>GAA		collagen, type XXVIII precursor							167.0	161.0	163.0					7																	7557459		1855	4108	5963	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7557459G>C	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.823C>G	7.37:g.7557459G>C	ENSP00000382356:p.Gln275Glu					COL28A1_uc011jxe.1_5'UTR|COL28A1_uc003srd.2_5'UTR	p.Q275E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	7	940	-		Ovarian(82;0.0789)	275					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.823C>G	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	G	1.479	-0.557662	0.03967	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	D	0.94092	-3.35	4.04	4.04	0.47022	.	0.270754	0.24242	U	0.040241	D	0.85775	0.5775	L	0.29908	0.895	0.32250	N	0.57157	B	0.26935	0.164	B	0.25759	0.063	T	0.78186	-0.2302	10	0.02654	T	1	-0.0281	12.0099	0.53280	0.0:0.0:1.0:0.0	.	275	Q2UY09	COSA1_HUMAN	E	275	ENSP00000382356:Q275E	ENSP00000382347:Q275E	Q	-	1	0	COL28A1	7523984	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	1.784000	0.38674	2.548000	0.85928	0.655000	0.94253	CAA		PASS	0.398	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		39	237	39	237	---	---	---	---
CDCA7L	55536	broad.mit.edu	37	7	21940678	21940678	+	3'UTR	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:21940678C>G	ENST00000406877.3	-	0	2906				CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.L4453V|DNAH11_ENST00000328843.6_Missense_Mutation_p.L4460V	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L4460V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCTCAAGGAGCTGGCATGCCC	0.537																																						uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(13378-13380)CTG>GTG		dynein, axonemal, heavy chain 11							103.0	107.0	106.0					7																	21940678		1906	4114	6020	SO:0001624	3_prime_UTR_variant	8701	Kartagener_syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21940678C>G		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.*1262G>C	7.37:g.21940678C>G						CDCA7L_uc003sve.3_3'UTR|CDCA7L_uc010kuk.2_3'UTR|CDCA7L_uc010kul.2_3'UTR|CDCA7L_uc003svf.3_3'UTR	p.L4460V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			83	13409	+			4460					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13378C>G	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498038	0.44455	.	.	ENSG00000105877	ENST00000328843	T	0.10477	2.87	5.67	-0.726	0.11170	Dynein heavy chain (1);	0.138494	0.49305	N	0.000152	T	0.09423	0.0232	.	.	.	0.80722	D	1	B	0.23854	0.092	B	0.28638	0.092	T	0.12604	-1.0541	9	0.72032	D	0.01	.	8.1535	0.31154	0.0:0.4922:0.1006:0.4073	.	4460	Q96DT5	DYH11_HUMAN	V	4460	ENSP00000330671:L4460V	ENSP00000330671:L4460V	L	+	1	2	DNAH11	21907203	0.397000	0.25270	0.300000	0.25030	0.645000	0.38454	0.211000	0.17474	-0.354000	0.08212	0.655000	0.94253	CTG		PASS	0.537	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		46	212	46	212	---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23205373	23205373	+	Silent	SNP	C	C	T	rs199531564		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:23205373C>T	ENST00000339077.5	+	8	1236	c.993C>T	c.(991-993)tgC>tgT	p.C331C	KLHL7_ENST00000409689.1_Silent_p.C283C|KLHL7_ENST00000322231.7_Silent_p.C309C|KLHL7_ENST00000545443.1_Silent_p.C309C|KLHL7_ENST00000539124.1_Silent_p.C255C|KLHL7_ENST00000542558.1_Silent_p.C106C	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	331					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.C331C(1)|p.C309C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGCAGCATGCGTGTTTTGGG	0.423																																						uc003svs.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(991-993)TGC>TGT		kelch-like 7 isoform 1							88.0	87.0	87.0					7																	23205373		2203	4300	6503	SO:0001819	synonymous_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23205373C>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.993C>T	7.37:g.23205373C>T						KLHL7_uc003svr.3_Silent_p.C309C|KLHL7_uc011jys.1_Silent_p.C255C|KLHL7_uc011jyt.1_Silent_p.C106C|KLHL7_uc003svt.2_Silent_p.C283C|KLHL7_uc011jyv.1_Silent_p.C106C	p.C331C	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			8	1286	+			331			Kelch 1.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	SNP	ENST00000339077.5	37	c.993C>T	CCDS34609.1																																																																																				PASS	0.423	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		28	63	28	63	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378677	31378677	+	Missense_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:31378677T>A	ENST00000297142.3	-	2	528	c.206A>T	c.(205-207)gAt>gTt	p.D69V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	69					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.D69V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCCAttttcatcttcctcttc	0.483																																						uc003tch.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(205-207)GAT>GTT		neurogenic differentiation 6							252.0	242.0	245.0					7																	31378677		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378677T>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.206A>T	7.37:g.31378677T>A	ENSP00000297142:p.Asp69Val						p.D69V	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	559	-			69					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.206A>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281729	0.59758	.	.	ENSG00000164600	ENST00000297142	D	0.95622	-3.76	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.96626	0.8899	L	0.55990	1.75	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.95786	0.8821	10	0.30854	T	0.27	-21.3521	15.3831	0.74676	0.0:0.0:0.0:1.0	.	69	Q96NK8	NDF6_HUMAN	V	69	ENSP00000297142:D69V	ENSP00000297142:D69V	D	-	2	0	NEUROD6	31345202	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.226000	0.72277	2.119000	0.64992	0.524000	0.50904	GAT		PASS	0.483	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		45	215	45	215	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48314352	48314352	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:48314352A>G	ENST00000435803.1	+	17	5113	c.5089A>G	c.(5089-5091)Agt>Ggt	p.S1697G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1697					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1697G(1)|p.S1642G(1)		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						TAAGAATATCAGTAGTGTGGG	0.388																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(5089-5091)AGT>GGT		ATP binding cassette, sub-family A (ABC1),							95.0	92.0	93.0					7																	48314352		1872	4106	5978	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314352A>G	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.5089A>G	7.37:g.48314352A>G	ENSP00000411096:p.Ser1697Gly					ABCA13_uc010kyr.2_Missense_Mutation_p.S1200G	p.S1697G	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	5114	+			1697					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5089A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957436	0.34565	.	.	ENSG00000179869	ENST00000435803	D	0.87029	-2.2	5.77	5.77	0.91146	.	0.000000	0.56097	D	0.000027	D	0.85383	0.5684	L	0.59436	1.845	0.42490	D	0.992899	D	0.58268	0.982	P	0.45195	0.473	D	0.85442	0.1155	9	.	.	.	.	11.231	0.48912	0.8475:0.1525:0.0:0.0	.	1697	Q86UQ4	ABCAD_HUMAN	G	1697	ENSP00000411096:S1697G	.	S	+	1	0	ABCA13	48284898	0.484000	0.25964	0.201000	0.23476	0.138000	0.21146	1.621000	0.36986	2.218000	0.71995	0.451000	0.29950	AGT		PASS	0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		59	110	59	110	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103840	53103840	+	Missense_Mutation	SNP	G	G	A	rs565383229	byFrequency	TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:53103840G>A	ENST00000408890.4	+	1	492	c.476G>A	c.(475-477)cGc>cAc	p.R159H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	159								p.R159H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGAGAgcccgccccgcaggc	0.726													G|||	2	0.000399361	0.0	0.0	5008	,	,		10797	0.0		0.0	False		,,,				2504	0.002					uc003tpz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)CGC>CAC		POM121 membrane glycoprotein-like 12							13.0	16.0	15.0					7																	53103840		1848	4065	5913	SO:0001583	missense	285877							g.chr7:53103840G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.476G>A	7.37:g.53103840G>A	ENSP00000386133:p.Arg159His						p.R159H	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	492	+			159					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.476G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029590	0.35797	.	.	ENSG00000221900	ENST00000408890	T	0.23552	1.9	2.08	-4.17	0.03857	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.48304	0.573	T	0.10776	-1.0615	9	0.40728	T	0.16	.	4.4869	0.11794	0.2735:0.3869:0.3396:0.0	.	159	Q8N7R1	P1L12_HUMAN	H	159	ENSP00000386133:R159H	ENSP00000386133:R159H	R	+	2	0	POM121L12	53071334	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.533000	0.02215	-1.234000	0.02548	0.555000	0.69702	CGC		PASS	0.726	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		12	18	12	18	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57187747	57187747	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:57187747G>T	ENST00000331162.4	-	5	1645	c.1375C>A	c.(1375-1377)Cat>Aat	p.H459N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	459					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.H459N(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)			TCTCCAGTATGAATTCTCTTG	0.428																																						uc010kzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1375-1377)CAT>AAT		zinc finger protein 479							72.0	73.0	73.0					7																	57187747		2105	4238	6343	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187747G>T	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.1375C>A	7.37:g.57187747G>T	ENSP00000333776:p.His459Asn						p.H459N	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1646	-			459			C2H2-type 10.			Missense_Mutation	SNP	ENST00000331162.4	37	c.1375C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	11.39	1.624105	0.28889	.	.	ENSG00000185177	ENST00000331162	T	0.67345	-0.26	0.955	0.955	0.19602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77054	0.4074	M	0.92691	3.335	0.30329	N	0.786829	B	0.27910	0.193	B	0.41691	0.364	T	0.76539	-0.2922	9	0.87932	D	0	.	7.4593	0.27285	0.0:0.0:1.0:0.0	.	459	Q96JC4	ZN479_HUMAN	N	459	ENSP00000333776:H459N	ENSP00000333776:H459N	H	-	1	0	ZNF479	57191689	1.000000	0.71417	0.007000	0.13788	0.006000	0.05464	6.500000	0.73687	0.446000	0.26666	0.449000	0.29647	CAT		PASS	0.428	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		36	117	36	117	---	---	---	---
ZNF680	340252	broad.mit.edu	37	7	63982404	63982404	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:63982404C>A	ENST00000309683.6	-	4	879	c.728G>T	c.(727-729)tGt>tTt	p.C243F	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	243					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.C243F(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GGCTTTGCCACATTCCTCACA	0.363																																						uc003tta.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(727-729)TGT>TTT		zinc finger protein 680 isoform 1							46.0	48.0	47.0					7																	63982404		2203	4300	6503	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63982404C>A	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.728G>T	7.37:g.63982404C>A	ENSP00000309330:p.Cys243Phe					ZNF680_uc010kzr.2_Missense_Mutation_p.C170F	p.C243F	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN			4	901	-		Lung NSC(55;0.118)|all_lung(88;0.243)	243			C2H2-type 3.		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.728G>T	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	c	11.55	1.673110	0.29693	.	.	ENSG00000173041	ENST00000309683	D	0.85861	-2.04	1.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94225	0.8146	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91611	0.5303	9	0.87932	D	0	.	5.9976	0.19503	0.0:1.0:0.0:0.0	.	243	Q8NEM1	ZN680_HUMAN	F	243	ENSP00000309330:C243F	ENSP00000309330:C243F	C	-	2	0	ZNF680	63619839	0.998000	0.40836	0.057000	0.19452	0.460000	0.32559	3.717000	0.54911	0.701000	0.31803	0.491000	0.48974	TGT		PASS	0.363	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		12	23	12	23	---	---	---	---
CCL26	10344	broad.mit.edu	37	7	75401209	75401209	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:75401209C>A	ENST00000394905.2	-	3	443	c.186G>T	c.(184-186)gtG>gtT	p.V62V	CCL26_ENST00000005180.4_Silent_p.V62V	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	62					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.V62V(1)		lung(3)	3						ATACTCACATCACAGCCCGCT	0.567																																						uc003udt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(184-186)GTG>GTT		chemokine (C-C motif) ligand 26 precursor							84.0	84.0	84.0					7																	75401209		2203	4300	6503	SO:0001819	synonymous_variant	10344				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75401209C>A	AF124601	CCDS5578.1	7q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000006606	ENSG00000006606		"""Chemokine ligands"", ""Endogenous ligands"""	10625	protein-coding gene	gene with protein product	"""macrophage inflammatory protein 4-alpha"", ""small inducible cytokine A26"", ""CC chemokine IMAC"", ""chemokine N1"", ""thymic stroma chemokine-1"", ""eotaxin-3"""	604697	"""small inducible cytokine subfamily A (Cys-Cys), member 26"""	SCYA26		10373330	Standard	NM_006072		Approved	MIP-4alpha, eotaxin-3, IMAC, MIP-4a, TSC-1	uc003udt.1	Q9Y258	OTTHUMG00000130403	ENST00000394905.2:c.186G>T	7.37:g.75401209C>A							p.V62V	NM_006072	NP_006063	Q9Y258	CCL26_HUMAN			3	294	-			62					A0N0Q5|Q52LV8	Silent	SNP	ENST00000394905.2	37	c.186G>T	CCDS5578.1																																																																																				PASS	0.567	CCL26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344900.1	NM_006072		16	67	16	67	---	---	---	---
POR	5447	broad.mit.edu	37	7	75614954	75614954	+	Missense_Mutation	SNP	G	G	A	rs373347327		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:75614954G>A	ENST00000461988.1	+	13	1561	c.1456G>A	c.(1456-1458)Ggc>Agc	p.G486S	POR_ENST00000419840.1_Missense_Mutation_p.G300S|POR_ENST00000545601.1_Missense_Mutation_p.G294S|POR_ENST00000450476.1_Missense_Mutation_p.G385S|TMEM120A_ENST00000493111.2_RNA|POR_ENST00000394893.1_Missense_Mutation_p.G486S|TMEM120A_ENST00000338761.4_RNA|POR_ENST00000439269.1_Missense_Mutation_p.G224S	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	483	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)	p.G483S(1)|p.G385S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GACCAAGGCTGGCCGCATCAA	0.677																																						uc003udy.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1456-1458)GGC>AGC		cytochrome P450 reductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	G	SER/GLY	0,4156		0,0,2078	16.0	18.0	18.0		1456	3.9	0.7	7		18	1,8377		0,1,4188	no	missense	POR	NM_000941.2	56	0,1,6266	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	486/681	75614954	1,12533	2078	4189	6267	SO:0001583	missense	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75614954G>A	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1456G>A	7.37:g.75614954G>A	ENSP00000419970:p.Gly486Ser					POR_uc011kgc.1_Missense_Mutation_p.G294S|POR_uc011kgd.1_Missense_Mutation_p.G385S|POR_uc011kge.1_Missense_Mutation_p.G224S|POR_uc003uea.2_5'UTR	p.G486S	NM_000941	NP_000932	P16435	NCPR_HUMAN			13	1538	+			483			FAD-binding FR-type.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.1456G>A	CCDS5579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.27|17.27	3.346030|3.346030	0.61073|0.61073	0.0|0.0	1.19E-4|1.19E-4	ENSG00000127948|ENSG00000127948	ENST00000461988;ENST00000419840;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269|ENST00000447222	T;T;T;T;T;T|.	0.72942|.	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7|.	3.94|3.94	3.94|3.94	0.45596|0.45596	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82412|.	0.5031|.	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	B;P;P;P|.	0.42941|.	0.019;0.684;0.756;0.794|.	B;P;P;P|.	0.51101|.	0.073;0.563;0.528;0.659|.	D|.	0.86117|.	0.1566|.	10|.	0.72032|.	D|.	0.01|.	-33.7833|-33.7833	15.508|15.508	0.75757|0.75757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	483;385;294;492|.	P16435;E7EVY7;F5H468;Q59ED7|.	NCPR_HUMAN;.;.;.|.	S|X	486;300;486;294;385;224|536	ENSP00000419970:G486S;ENSP00000414244:G300S;ENSP00000378355:G486S;ENSP00000446149:G294S;ENSP00000416572:G385S;ENSP00000412490:G224S|.	ENSP00000378355:G486S|.	G|W	+|+	1|2	0|0	POR|POR	75452890|75452890	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.435000|0.435000	0.31806|0.31806	9.040000|9.040000	0.93783|0.93783	2.186000|2.186000	0.69663|0.69663	0.561000|0.561000	0.74099|0.74099	GGC|TGG		PASS	0.677	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		4	17	4	17	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94047830	94047830	+	Missense_Mutation	SNP	G	G	T	rs72658154		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:94047830G>T	ENST00000297268.6	+	33	2462	c.1991G>T	c.(1990-1992)gGt>gTt	p.G664V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	664					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G664V(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCTCAGAGGTGAAATTGGT	0.333										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	GRCh37	CM011306	COL1A2	M	rs72658154	c.(1990-1992)GGT>GTT		alpha 2 type I collagen precursor	Collagenase(DB00048)						171.0	166.0	168.0					7																	94047830		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94047830G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1991G>T	7.37:g.94047830G>T	ENSP00000297268:p.Gly664Val	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA	p.G664V	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		33	2462	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		664					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1991G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073036	0.76415	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99637	-6.29	5.85	5.85	0.93711	.	0.054833	0.85682	D	0.000000	D	0.99846	0.9929	H	0.98980	4.39	0.80722	D	1	D	0.60575	0.988	D	0.70716	0.97	D	0.96841	0.9618	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	664	P08123	CO1A2_HUMAN	V	664;665	ENSP00000297268:G664V	ENSP00000297268:G664V	G	+	2	0	COL1A2	93885766	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGT		PASS	0.333	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		17	55	17	55	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98552895	98552895	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:98552895C>T	ENST00000359863.4	+	40	6093	c.5884C>T	c.(5884-5886)Cac>Tac	p.H1962Y	TRRAP_ENST00000355540.3_Missense_Mutation_p.H1944Y|TRRAP_ENST00000446306.3_Missense_Mutation_p.H1943Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1962					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.H1944Y(1)|p.H1962Y(1)		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)			GCAGCTGGTCCACATTCTGCA	0.617																																						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.(5884-5886)CAC>TAC		transformation/transcription domain-associated							42.0	36.0	38.0					7																	98552895		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.chr7:98552895C>T	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.5884C>T	7.37:g.98552895C>T	ENSP00000352925:p.His1962Tyr					TRRAP_uc011kis.1_Missense_Mutation_p.H1944Y|TRRAP_uc003upr.2_Missense_Mutation_p.H1661Y	p.H1962Y	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		40	6093	+	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)		1962					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.5884C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204723	0.79127	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.56941	0.43;0.43	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.78541	0.4299	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.81728	-0.0800	10	0.62326	D	0.03	.	19.5376	0.95260	0.0:1.0:0.0:0.0	.	1944;1683;1962	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	Y	1962;1944;1942	ENSP00000352925:H1962Y;ENSP00000347733:H1944Y	ENSP00000347733:H1944Y	H	+	1	0	TRRAP	98390831	1.000000	0.71417	0.151000	0.22473	0.434000	0.31775	7.818000	0.86416	2.620000	0.88729	0.655000	0.94253	CAC		PASS	0.617	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		11	24	11	24	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99798772	99798772	+	Silent	SNP	T	T	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:99798772T>G	ENST00000426455.1	+	20	2528	c.2121T>G	c.(2119-2121)tcT>tcG	p.S707S	GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Silent_p.S707S|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Silent_p.S649S	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	707					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.S707S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AACGCCTCTCTGCCTTCTACA	0.478																																						uc003utx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(2119-2121)TCT>TCG		stromal antigen 3							120.0	106.0	111.0					7																	99798772		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99798772T>G	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2121T>G	7.37:g.99798772T>G						STAG3_uc010lgs.1_Silent_p.S495S|STAG3_uc011kjk.1_Silent_p.S649S|GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc003uua.3_3'UTR|GATS_uc010lgt.2_RNA|STAG3_uc003uub.1_5'UTR	p.S707S	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			20	2276	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		707					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.2121T>G	CCDS34703.1																																																																																				PASS	0.478	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		21	75	21	75	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100459495	100459495	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:100459495G>T	ENST00000354161.3	+	12	1798	c.1673G>T	c.(1672-1674)gGg>gTg	p.G558V	SLC12A9_ENST00000428758.1_Missense_Mutation_p.G558V|SLC12A9_ENST00000540482.1_Missense_Mutation_p.G558V|SLC12A9_ENST00000415287.1_Missense_Mutation_p.G469V|SLC12A9_ENST00000275729.3_Missense_Mutation_p.G469V	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	558					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.G558V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAGAAGGGGGGGCTGTATGTG	0.627																																						uc003uwp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1672-1674)GGG>GTG		solute carrier family 12 (potassium/chloride							28.0	32.0	31.0					7																	100459495		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459495G>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1673G>T	7.37:g.100459495G>T	ENSP00000275730:p.Gly558Val					SLC12A9_uc003uwq.2_Missense_Mutation_p.G469V|SLC12A9_uc011kki.1_Missense_Mutation_p.G89V|SLC12A9_uc003uwr.2_Missense_Mutation_p.G294V|SLC12A9_uc003uws.2_Missense_Mutation_p.G89V|SLC12A9_uc003uwt.2_Missense_Mutation_p.G294V|SLC12A9_uc003uwv.2_Missense_Mutation_p.G89V	p.G558V	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			12	1815	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		558			Extracellular (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1673G>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614640	0.87359	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.96041	-3.38;-3.36;-2.96;-2.96;-3.89	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98962	1.0798	10	0.87932	D	0	.	16.9926	0.86358	0.0:0.0:1.0:0.0	.	469;558	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	V	558;558;469;469;558;184	ENSP00000443702:G558V;ENSP00000408301:G558V;ENSP00000275729:G469V;ENSP00000413796:G469V;ENSP00000275730:G558V	ENSP00000275729:G469V	G	+	2	0	SLC12A9	100297431	1.000000	0.71417	0.977000	0.42913	0.769000	0.43574	9.761000	0.98940	2.616000	0.88540	0.478000	0.44815	GGG		PASS	0.627	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		9	35	9	35	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173297	126173297	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:126173297C>A	ENST00000339582.2	-	9	2947	c.2139G>T	c.(2137-2139)tgG>tgT	p.W713C	GRM8_ENST00000358373.3_Missense_Mutation_p.W713C|GRM8_ENST00000444921.2_Missense_Mutation_p.W713C|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	713					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.W713C(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCACAACAAACCAGACAAACA	0.517										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2137-2139)TGG>TGT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						80.0	64.0	69.0					7																	126173297		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173297C>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2139G>T	7.37:g.126173297C>A	ENSP00000344173:p.Trp713Cys	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.W713C|GRM8_uc010lkz.1_RNA	p.W713C	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2450	-		Prostate(267;0.186)	713			Helical; Name=4; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2139G>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776370	0.70107	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.91945	-2.94;-2.94;-2.94	5.61	5.61	0.85477	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97259	0.9104	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97972	1.0344	10	0.87932	D	0	.	18.6261	0.91340	0.0:1.0:0.0:0.0	.	713;713	O00222-2;O00222	.;GRM8_HUMAN	C	713	ENSP00000344173:W713C;ENSP00000409790:W713C;ENSP00000351142:W713C	ENSP00000344173:W713C	W	-	3	0	GRM8	125960533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.657000	0.90304	0.655000	0.94253	TGG		PASS	0.517	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			10	45	10	45	---	---	---	---
PAX4	5078	broad.mit.edu	37	7	127253856	127253856	+	Silent	SNP	C	C	A	rs370905134		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:127253856C>A	ENST00000341640.2	-	4	697	c.492G>T	c.(490-492)cgG>cgT	p.R164R	PAX4_ENST00000463946.1_Silent_p.R162R|PAX4_ENST00000338516.3_Silent_p.R172R|PAX4_ENST00000378740.2_Silent_p.R164R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	172					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.R164R(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TAGTCCGATTCCGGTGGCCGG	0.582																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(490-492)CGG>CGT		paired box 4							81.0	80.0	80.0					7																	127253856		2203	4300	6503	SO:0001819	synonymous_variant	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253856C>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.492G>T	7.37:g.127253856C>A						PAX4_uc003vmf.2_Silent_p.R162R|PAX4_uc003vmg.1_Silent_p.R164R|PAX4_uc003vmh.2_Silent_p.R162R	p.R164R	NM_006193	NP_006184	O43316	PAX4_HUMAN			4	698	-			172		R -> W (in MODY9; the mutant sequence represses the activity of the insulin and glucagon promoters by only 35% compared to 50% and 57% respectively with wild- type sequence).	Homeobox.		O95161|Q6B0H0	Silent	SNP	ENST00000341640.2	37	c.492G>T	CCDS5797.1																																																																																				PASS	0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			25	79	25	79	---	---	---	---
CEP41	95681	broad.mit.edu	37	7	130038840	130038840	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:130038840C>A	ENST00000223208.5	-	11	1284	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	CEP41_ENST00000541543.1_Missense_Mutation_p.K250N|CEP41_ENST00000343969.5_Missense_Mutation_p.K266N	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	338					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)		p.K338N(1)									CACCAGGCACCTTGGACTCTC	0.592																																						uc003vpz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1012-1014)AAG>AAT		testis specific, 14							107.0	121.0	117.0					7																	130038840		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130038840C>A	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.1014G>T	7.37:g.130038840C>A	ENSP00000223208:p.Lys338Asn					TSGA14_uc003vpy.2_Missense_Mutation_p.K100N|TSGA14_uc010lmf.2_Missense_Mutation_p.K135N|TSGA14_uc003vqa.2_Missense_Mutation_p.K266N|TSGA14_uc011kpg.1_Missense_Mutation_p.K250N	p.K338N	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN			11	1061	-	Melanoma(18;0.0435)		338					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.1014G>T	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332992	0.41297	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969	D;D;D	0.89875	-2.58;-2.2;-2.53	5.63	3.81	0.43845	.	0.369326	0.29900	N	0.010909	D	0.82829	0.5122	L	0.52364	1.645	0.19775	N	0.999957	B;B;B	0.29085	0.001;0.118;0.232	B;B;B	0.23150	0.001;0.044;0.026	T	0.73145	-0.4075	10	0.40728	T	0.16	-15.9716	7.8095	0.29221	0.0:0.8163:0.0:0.1837	.	250;266;338	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	N	338;250;266	ENSP00000223208:K338N;ENSP00000445888:K250N;ENSP00000342738:K266N	ENSP00000223208:K338N	K	-	3	2	TSGA14	129826076	0.995000	0.38212	0.996000	0.52242	0.819000	0.46315	1.240000	0.32731	1.508000	0.48769	0.655000	0.94253	AAG		PASS	0.592	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		63	221	63	221	---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138862969	138862969	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:138862969C>T	ENST00000464848.1	+	13	1159	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L	TTC26_ENST00000343187.4_Missense_Mutation_p.P329L|TTC26_ENST00000430935.1_Missense_Mutation_p.P360L|TTC26_ENST00000478836.2_Missense_Mutation_p.P253L|TTC26_ENST00000495038.1_Missense_Mutation_p.P229L			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	360					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.P360L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GATACAATACCAGGGAGGCAG	0.348																																						uc003vus.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1078-1080)CCA>CTA		tetratricopeptide repeat domain 26 isoform 1							104.0	97.0	99.0					7																	138862969		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138862969C>T	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1079C>T	7.37:g.138862969C>T	ENSP00000419279:p.Pro360Leu					TTC26_uc011kqn.1_Missense_Mutation_p.P360L|TTC26_uc011kqo.1_Missense_Mutation_p.P329L|TTC26_uc011kqp.1_Missense_Mutation_p.P255L|TTC26_uc003vut.2_Missense_Mutation_p.P220L|TTC26_uc011kqq.1_Missense_Mutation_p.P229L	p.P360L	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN			13	1193	+			360					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.1079C>T	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216744	0.95104	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.78637	2.42	0.80722	D	1	P;D;D;D	0.89917	0.502;1.0;0.986;1.0	B;D;P;D	0.87578	0.299;0.998;0.738;0.996	T	0.67703	-0.5602	10	0.52906	T	0.07	.	18.847	0.92210	0.0:1.0:0.0:0.0	.	229;329;360;360	B7Z2T3;F8W724;C9J2N7;A0AVF1	.;.;.;TTC26_HUMAN	L	360;229;253;360;329	ENSP00000410655:P360L;ENSP00000418788:P229L;ENSP00000419178:P253L;ENSP00000419279:P360L;ENSP00000339135:P329L	ENSP00000339135:P329L	P	+	2	0	TTC26	138513509	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.265000	0.78442	2.749000	0.94314	0.460000	0.39030	CCA		PASS	0.348	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		13	45	13	45	---	---	---	---
OR9A2	135924	broad.mit.edu	37	7	142724074	142724074	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:142724074C>A	ENST00000350513.2	-	1	208	c.146G>T	c.(145-147)tGt>tTt	p.C49F		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C49F(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTATCCACACAGACAATCAC	0.443																																						uc003wcc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(145-147)TGT>TTT		olfactory receptor, family 9, subfamily A,							130.0	133.0	132.0					7																	142724074		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142724074C>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.146G>T	7.37:g.142724074C>A	ENSP00000316518:p.Cys49Phe						p.C49F	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	146	-	Melanoma(164;0.059)		49			Cytoplasmic (Potential).		B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.146G>T	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	C	2.391	-0.339842	0.05243	.	.	ENSG00000179468	ENST00000350513	T	0.01025	5.43	4.03	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.426280	0.17296	U	0.179432	T	0.02455	0.0075	L	0.45698	1.435	0.09310	N	1	D	0.60160	0.987	P	0.60682	0.878	T	0.47195	-0.9136	10	0.52906	T	0.07	-10.157	7.7765	0.29041	0.0:0.8857:0.0:0.1143	.	49	Q8NGT5	OR9A2_HUMAN	F	49	ENSP00000316518:C49F	ENSP00000316518:C49F	C	-	2	0	OR9A2	142434196	0.000000	0.05858	0.998000	0.56505	0.039000	0.13416	0.128000	0.15810	2.232000	0.73038	0.561000	0.74099	TGT		PASS	0.443	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			22	145	22	145	---	---	---	---
TPK1	27010	broad.mit.edu	37	7	144345919	144345919	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:144345919C>A	ENST00000360057.3	-	5	341	c.239G>T	c.(238-240)aGa>aTa	p.R80I	TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.R75I|TPK1_ENST00000378099.3_Missense_Mutation_p.R80I	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	80					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.R80I(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATAGTATTCTCTGACTTCAGG	0.308																																					Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(238-240)AGA>ATA		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						100.0	114.0	109.0					7																	144345919		2203	4299	6502	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144345919C>A	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.239G>T	7.37:g.144345919C>A	ENSP00000353165:p.Arg80Ile					TPK1_uc003weo.2_Missense_Mutation_p.R75I|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.R80I|TPK1_uc003wes.2_RNA	p.R80I	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			5	342	-			80					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.239G>T	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318718	0.95682	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000552881	D;D;D;D	0.83335	-1.7;-1.71;-1.7;-1.7	5.92	-3.49	0.04724	Thiamin pyrophosphokinase, catalytic domain (3);	0.604415	0.18796	N	0.130932	T	0.69967	0.3170	L	0.42632	1.34	0.50313	D	0.999865	B;B;B	0.34200	0.043;0.048;0.441	B;B;B	0.35607	0.034;0.015;0.206	T	0.55774	-0.8088	10	0.20519	T	0.43	-1.3557	6.7086	0.23264	0.1383:0.2526:0.0:0.6091	.	80;80;75	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	I	80;75;80;80	ENSP00000353165:R80I;ENSP00000438813:R75I;ENSP00000367339:R80I;ENSP00000448655:R80I	ENSP00000353165:R80I	R	-	2	0	TPK1	143976852	0.344000	0.24827	0.438000	0.26821	0.865000	0.49528	-0.683000	0.05179	-0.307000	0.08804	-0.150000	0.13652	AGA		PASS	0.308	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		38	185	38	185	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146825794	146825795	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:146825794_146825795GG>TT	ENST00000361727.3	+	7	1465_1466	c.949_950GG>TT	c.(949-951)GGa>TTa	p.G317L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	317	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.G317V(1)|p.G317L(1)|p.G317*(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATAACCTTTGGAGGCATCCCT	0.376										HNSCC(39;0.1)																												uc003weu.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(949-951)GGA>TGA|c.(949-951)GGA>GTA		cell recognition molecule Caspr2 precursor																																				SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146825794G>T|g.chr7:146825795G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	Exception_encountered	7.37:g.146825794_146825795delinsTT	ENSP00000354778:p.Gly317Leu	HNSCC(39;0.1)					p.G317*|p.G317V	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		7	1465|1466	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	317			Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000361727.3	37	c.949G>T|c.950G>T	CCDS5889.1																																																																																				PASS	0.376	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			17|18	98	17	98	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146829519	146829519	+	Silent	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:146829519G>T	ENST00000361727.3	+	8	1782	c.1266G>T	c.(1264-1266)gtG>gtT	p.V422V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	422	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.V422V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGGCAATGTGGAGATTGACC	0.458										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1264-1266)GTG>GTT		cell recognition molecule Caspr2 precursor							129.0	112.0	118.0					7																	146829519		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829519G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1266G>T	7.37:g.146829519G>T		HNSCC(39;0.1)					p.V422V	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1782	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	422			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1266G>T	CCDS5889.1																																																																																				PASS	0.458	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			14	67	14	67	---	---	---	---
C7orf33	202865	broad.mit.edu	37	7	148288214	148288214	+	Missense_Mutation	SNP	G	G	A	rs541556097		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:148288214G>A	ENST00000307003.2	+	1	558	c.197G>A	c.(196-198)aGa>aAa	p.R66K		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	66								p.R66K(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCACGGGAAGACATAAGGTA	0.458																																						uc003wew.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(196-198)AGA>AAA		hypothetical protein LOC202865							88.0	74.0	79.0					7																	148288214		2203	4300	6503	SO:0001583	missense	202865							g.chr7:148288214G>A	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.197G>A	7.37:g.148288214G>A	ENSP00000304071:p.Arg66Lys						p.R66K	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	558	+	Melanoma(164;0.15)		66						Missense_Mutation	SNP	ENST00000307003.2	37	c.197G>A	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	G	6.263	0.416651	0.11870	.	.	ENSG00000170279	ENST00000307003	.	.	.	2.8	1.91	0.25777	.	.	.	.	.	T	0.19366	0.0465	N	0.14661	0.345	0.09310	N	1	P	0.35745	0.518	B	0.33339	0.162	T	0.13953	-1.0490	8	0.87932	D	0	.	5.7106	0.17933	0.1511:0.0:0.8489:0.0	.	66	Q8WU49	CG033_HUMAN	K	66	.	ENSP00000304071:R66K	R	+	2	0	C7orf33	147919147	0.006000	0.16342	0.005000	0.12908	0.021000	0.10359	0.454000	0.21827	0.763000	0.33175	-0.384000	0.06662	AGA		PASS	0.458	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		29	100	29	100	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154561142	154561142	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr7:154561142C>A	ENST00000377770.3	+	9	1040	c.899C>A	c.(898-900)aCa>aAa	p.T300K	DPP6_ENST00000332007.3_Missense_Mutation_p.T238K|DPP6_ENST00000404039.1_Missense_Mutation_p.T236K|DPP6_ENST00000427557.1_Missense_Mutation_p.T193K			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	300					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.T236K(1)|p.T300K(1)|p.T238K(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATTTTGAAGACACACATCGCA	0.522																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|breast(1)	4						c.(898-900)ACA>AAA		dipeptidyl-peptidase 6 isoform 1							97.0	97.0	97.0					7																	154561142		2010	4170	6180	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154561142C>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.899C>A	7.37:g.154561142C>A	ENSP00000367001:p.Thr300Lys					DPP6_uc003wli.2_Missense_Mutation_p.T236K|DPP6_uc003wlm.2_Missense_Mutation_p.T238K|DPP6_uc011kvq.1_Missense_Mutation_p.T193K	p.T300K	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		9	1028	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	300			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.899C>A		.	.	.	.	.	.	.	.	.	.	C	18.15	3.559884	0.65538	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.28	4.38	0.52667	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.270733	0.41097	D	0.000957	T	0.46229	0.1382	M	0.61703	1.905	0.46356	D	0.999003	B;B;B;B	0.34214	0.442;0.167;0.2;0.2	P;B;B;B	0.47603	0.551;0.07;0.115;0.115	T	0.50329	-0.8841	10	0.87932	D	0	-25.0382	15.5316	0.75968	0.0:0.8566:0.1434:0.0	.	193;238;300;236	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	K	236;300;238;193	ENSP00000385578:T236K;ENSP00000367001:T300K;ENSP00000328226:T238K;ENSP00000397303:T193K	ENSP00000328226:T238K	T	+	2	0	DPP6	154192075	1.000000	0.71417	0.995000	0.50966	0.762000	0.43233	5.832000	0.69337	1.186000	0.42985	0.655000	0.94253	ACA		PASS	0.522	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		14	79	14	79	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10466484	10466484	+	Silent	SNP	C	C	A	rs199631488	byFrequency	TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:10466484C>A	ENST00000382483.3	-	4	5347	c.5124G>T	c.(5122-5124)gtG>gtT	p.V1708V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1788					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.V1708V(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCCAGGGGCCACCTCTGCTG	0.647																																						uc003wtc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5122-5124)GTG>GTT		retinitis pigmentosa 1-like 1							79.0	88.0	85.0					8																	10466484		2026	4177	6203	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10466484C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5124G>T	8.37:g.10466484C>A							p.V1708V	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5353	-			1708					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.5124G>T	CCDS43708.1																																																																																				PASS	0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			33	84	33	84	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10473979	10473979	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:10473979C>A	ENST00000382483.3	-	3	951	c.728G>T	c.(727-729)gGg>gTg	p.G243V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	243					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.G243V(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGAAGTCAGCCCAGATAAAGT	0.527																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(727-729)GGG>GTG		retinitis pigmentosa 1-like 1							81.0	85.0	84.0					8																	10473979		1916	4140	6056	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10473979C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.728G>T	8.37:g.10473979C>A	ENSP00000371923:p.Gly243Val						p.G243V	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	957	-			243					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.728G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424031	0.25639	.	.	ENSG00000183638	ENST00000382483	D	0.87491	-2.26	4.42	1.56	0.23342	.	0.634983	0.12442	N	0.468622	D	0.87281	0.6138	L	0.42245	1.32	0.19575	N	0.999969	D	0.71674	0.998	D	0.63381	0.914	T	0.75602	-0.3261	10	0.87932	D	0	-2.8936	3.5293	0.07770	0.0:0.4742:0.195:0.3308	.	243	A6NKC6	.	V	243	ENSP00000371923:G243V	ENSP00000371923:G243V	G	-	2	0	RP1L1	10511389	0.064000	0.20934	0.005000	0.12908	0.175000	0.22909	0.717000	0.25851	0.127000	0.18452	0.462000	0.41574	GGG		PASS	0.527	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			12	72	12	72	---	---	---	---
NKX6-3	157848	broad.mit.edu	37	8	41504001	41504001	+	Silent	SNP	G	G	A	rs200542322		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:41504001G>A	ENST00000524115.2	-	2	378	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_152568.2	NP_689781.1	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	255					cell fate determination (GO:0001709)|glandular epithelial cell differentiation (GO:0002067)|negative regulation of epithelial cell differentiation (GO:0030857)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.F125F(1)		lung(1)	1	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGAGCACCGAGAAGGCGGCGC	0.701																																						uc003xoa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(373-375)TTC>TTT		NK6 homeobox 3							30.0	26.0	27.0					8																	41504001		2199	4299	6498	SO:0001819	synonymous_variant	157848					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:41504001G>A	AK057898	CCDS6118.1	8p11.21	2014-08-12	2007-07-09		ENSG00000165066	ENSG00000165066		"""Homeoboxes / ANTP class : NKL subclass"""	26328	protein-coding gene	gene with protein product		610772	"""NK6 transcription factor related, locus 3 (Drosophila)"""			16326147	Standard	XM_005273422		Approved	FLJ25169	uc003xoa.2	A6NJ46	OTTHUMG00000164083	ENST00000524115.2:c.375C>T	8.37:g.41504001G>A						NKX6-3_uc010lxa.1_Silent_p.F125F	p.F125F	NM_152568	NP_689781	A6NJ46	NKX63_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		2	379	-	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	255					Q96LR0	Silent	SNP	ENST00000524115.2	37	c.375C>T	CCDS6118.1																																																																																				PASS	0.701	NKX6-3-002	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000377166.2	NM_152568		4	22	4	22	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69104587	69104587	+	Missense_Mutation	SNP	C	C	A	rs137974526		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:69104587C>A	ENST00000288368.4	+	37	4708	c.4431C>A	c.(4429-4431)aaC>aaA	p.N1477K		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1477					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.N1477K(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGCCTCTCAACGCTTTGGATG	0.433																																						uc003xxv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(4429-4431)AAC>AAA		DEP domain containing 2 isoform a							85.0	73.0	77.0					8																	69104587		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69104587C>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4431C>A	8.37:g.69104587C>A	ENSP00000288368:p.Asn1477Lys						p.N1477K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			37	4458	+			1477					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4431C>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192913	0.58017	.	.	ENSG00000046889	ENST00000288368	T	0.60171	0.21	4.89	-0.537	0.11872	.	0.114590	0.56097	D	0.000023	T	0.66005	0.2746	M	0.64404	1.975	0.53688	D	0.999971	D	0.63880	0.993	D	0.63033	0.91	T	0.65269	-0.6209	10	0.72032	D	0.01	.	10.3708	0.44053	0.0:0.2244:0.0:0.7756	.	1477	Q70Z35	PREX2_HUMAN	K	1477	ENSP00000288368:N1477K	ENSP00000288368:N1477K	N	+	3	2	PREX2	69267141	0.992000	0.36948	0.996000	0.52242	0.954000	0.61252	0.208000	0.17415	-0.247000	0.09597	-2.051000	0.00406	AAC		PASS	0.433	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		10	55	10	55	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70744061	70744061	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:70744061G>T	ENST00000260126.4	-	2	1554	c.848C>A	c.(847-849)aCc>aAc	p.T283N	RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.T283N|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.T283N|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.T283N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGGTCCCAGGGTATAAATAGG	0.453																																						uc003xyl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(847-849)ACC>AAC		solute carrier organic anion transporter family,							113.0	113.0	113.0					8																	70744061		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744061G>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.848C>A	8.37:g.70744061G>T	ENSP00000260126:p.Thr283Asn					SLCO5A1_uc010lzb.2_Missense_Mutation_p.T283N|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.T283N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.T283N	p.T283N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1555	-	Breast(64;0.0654)		283			Helical; Name=4; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.848C>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712056	0.68730	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.52295	0.67;0.67;0.67	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	L	0.60904	1.88	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.998	T	0.66168	-0.5991	10	0.49607	T	0.09	.	19.3509	0.94384	0.0:0.0:1.0:0.0	.	283;283;283;283	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	N	283	ENSP00000260126:T283N;ENSP00000434422:T283N;ENSP00000431611:T283N	ENSP00000260126:T283N	T	-	2	0	SLCO5A1	70906615	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.058000	0.89460	2.577000	0.86979	0.462000	0.41574	ACC		PASS	0.453	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		19	137	19	137	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72964988	72964988	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:72964988G>C	ENST00000262209.4	-	14	1864	c.1657C>G	c.(1657-1659)Cac>Gac	p.H553D	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	553					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.H553D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCAGCAAAGTGAAGTGCAGTG	0.458																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1657-1659)CAC>GAC		ankyrin-like protein 1	Menthol(DB00825)						116.0	99.0	105.0					8																	72964988		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72964988G>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1657C>G	8.37:g.72964988G>C	ENSP00000262209:p.His553Asp					uc011lff.1_RNA|uc003xyy.2_RNA	p.H553D	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		14	1832	-			553			Cytoplasmic (Potential).|ANK 14.		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1657C>G	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218342	0.58560	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.71341	-0.56;-0.56	4.98	4.98	0.66077	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.87438	0.6177	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90135	0.4209	10	0.87932	D	0	-13.6015	18.6199	0.91317	0.0:0.0:1.0:0.0	.	553	O75762	TRPA1_HUMAN	D	405;553	ENSP00000428151:H405D;ENSP00000262209:H553D	ENSP00000262209:H553D	H	-	1	0	TRPA1	73127542	1.000000	0.71417	0.939000	0.37840	0.165000	0.22458	8.688000	0.91260	2.466000	0.83321	0.585000	0.79938	CAC		PASS	0.458	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		92	121	92	121	---	---	---	---
PI15	51050	broad.mit.edu	37	8	75757390	75757390	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:75757390G>C	ENST00000260113.2	+	4	599	c.420G>C	c.(418-420)aaG>aaC	p.K140N	RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.K140N|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	140	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.K140N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AGTTGGTCAAGCCATGGTATG	0.393																																						uc003yal.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(418-420)AAG>AAC		protease inhibitor 15 preproprotein							174.0	157.0	163.0					8																	75757390		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75757390G>C	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.420G>C	8.37:g.75757390G>C	ENSP00000260113:p.Lys140Asn					uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.K140N	p.K140N	NM_015886	NP_056970	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		4	599	+	Breast(64;0.137)		140					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.420G>C	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508682	0.64410	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.07688	3.17;3.17	5.27	0.998	0.19857	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	L	0.41492	1.28	0.58432	D	0.999993	D	0.89917	1.0	D	0.75484	0.986	T	0.00444	-1.1735	10	0.54805	T	0.06	.	10.6391	0.45582	0.3241:0.0:0.6759:0.0	.	140	O43692	PI15_HUMAN	N	140	ENSP00000260113:K140N;ENSP00000428567:K140N	ENSP00000260113:K140N	K	+	3	2	PI15	75919945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.927000	0.28818	0.303000	0.22785	0.557000	0.71058	AAG		PASS	0.393	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		24	152	24	152	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77616340	77616340	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:77616340C>A	ENST00000521891.2	+	2	465	c.17C>A	c.(16-18)tCc>tAc	p.S6Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S6Y|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S6Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S6Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S6Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCTGTGACTCCCCTCCTATC	0.458										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(16-18)TCC>TAC		zinc finger homeodomain 4							43.0	42.0	42.0					8																	77616340		1956	4169	6125	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616340C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.17C>A	8.37:g.77616340C>A	ENSP00000430497:p.Ser6Tyr	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.S6Y|ZFHX4_uc003yau.1_Missense_Mutation_p.S6Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S6Y	p.S6Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	404	+			6					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.17C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855654	0.51376	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.55	5.55	0.83447	.	0.000000	0.42964	U	0.000635	T	0.44074	0.1276	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.76494	0.988;0.993;0.993;0.999	P;P;P;D	0.68943	0.673;0.825;0.825;0.961	T	0.40757	-0.9546	10	0.87932	D	0	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	6;6;6;6	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	Y	6	ENSP00000430497:S6Y;ENSP00000399605:S6Y;ENSP00000050961:S6Y;ENSP00000428525:S6Y;ENSP00000429495:S6Y;ENSP00000427775:S6Y;ENSP00000427739:S6Y;ENSP00000430848:S6Y	ENSP00000050961:S6Y	S	+	2	0	ZFHX4	77778895	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.932000	0.70121	2.894000	0.99253	0.591000	0.81541	TCC		PASS	0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	38	12	38	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767118	77767118	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:77767118A>G	ENST00000521891.2	+	10	8409	c.7961A>G	c.(7960-7962)cAg>cGg	p.Q2654R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2628R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2609R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2609R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2609					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.Q2638R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTCTGGTTCCAGAATACACGA	0.502										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7825-7827)CAG>CGG		zinc finger homeodomain 4							53.0	55.0	54.0					8																	77767118		1885	4130	6015	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767118A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7961A>G	8.37:g.77767118A>G	ENSP00000430497:p.Gln2654Arg	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.Q2654R|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2609R	p.Q2609R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8213	+			2609			Homeobox 3.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7826A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	a	16.17	3.048293	0.55110	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	5.12	5.12	0.69794	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.41294	U	0.000911	D	0.99086	0.9686	H	0.95679	3.705	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.998;0.99	D;D;D	0.87578	0.998;0.996;0.992	D	0.99346	1.0913	10	0.87932	D	0	.	15.0658	0.71992	1.0:0.0:0.0:0.0	.	2609;2609;2654	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	2654;2638;2609;2609;2628	ENSP00000430497:Q2654R;ENSP00000399605:Q2609R;ENSP00000050961:Q2609R;ENSP00000430848:Q2628R	ENSP00000050961:Q2609R	Q	+	2	0	ZFHX4	77929673	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.139000	0.94554	2.147000	0.66899	0.454000	0.30748	CAG		PASS	0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		23	129	23	129	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77775458	77775459	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:77775458_77775459CC>AA	ENST00000521891.2	+	11	9956_9957	c.9508_9509CC>AA	c.(9508-9510)CCt>AAt	p.P3170N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3144N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3125N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3121N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P3154H(1)|p.P3154N(1)|p.P3154T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			acctcctcctcctcctcctcct	0.505										HNSCC(33;0.089)																												uc003yav.2																			3	Substitution - Missense(3)		lung(3)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9373-9375)CCT>ACT|c.(9373-9375)CCT>CAT		zinc finger homeodomain 4																																				SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775458C>A|g.chr8:77775459C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	Exception_encountered	8.37:g.77775458_77775459delinsAA	ENSP00000430497:p.Pro3170Asn	HNSCC(33;0.089)					p.P3125T|p.P3125H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	9760|9761	+			3121			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9373C>A|c.9374C>A	CCDS47878.2																																																																																				PASS	0.505	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	12|14	4	12	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87638275	87638275	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:87638275G>C	ENST00000320005.5	-	13	1561	c.1514C>G	c.(1513-1515)aCg>aGg	p.T505R		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	505					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.T505R(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TAACTGGACCGTAGTTGGTAG	0.383																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1513-1515)ACG>AGG		cyclic nucleotide gated channel beta 3							116.0	106.0	109.0					8																	87638275		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87638275G>C	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1514C>G	8.37:g.87638275G>C	ENSP00000316605:p.Thr505Arg					CNGB3_uc010maj.2_Missense_Mutation_p.T367R	p.T505R	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			13	1560	-			505			Helical; Name=H6; (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1514C>G	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	7.775	0.708267	0.15239	.	.	ENSG00000170289	ENST00000320005	D	0.96619	-4.07	5.37	4.41	0.53225	Cyclic nucleotide-binding-like (1);	0.258061	0.35151	N	0.003404	D	0.92018	0.7471	N	0.21194	0.64	0.21984	N	0.999438	B;B	0.26602	0.154;0.095	B;B	0.30251	0.113;0.052	D	0.86197	0.1616	10	0.66056	D	0.02	.	10.826	0.46633	0.0:0.0:0.5757:0.4243	.	505;505	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	R	505	ENSP00000316605:T505R	ENSP00000316605:T505R	T	-	2	0	CNGB3	87707391	0.869000	0.29996	0.013000	0.15412	0.027000	0.11550	2.237000	0.43061	2.526000	0.85167	0.650000	0.86243	ACG		PASS	0.383	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		25	58	25	58	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168595	99168595	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:99168595G>T	ENST00000401707.2	+	15	2456	c.2375G>T	c.(2374-2376)aGt>aTt	p.S792I	POP1_ENST00000349693.3_Missense_Mutation_p.S792I	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	792					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.S792I(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CAGGAGGCCAGTGAAAACCAT	0.507																																						uc003yij.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2374-2376)AGT>ATT		processing of precursor 1							115.0	116.0	116.0					8																	99168595		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99168595G>T	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2375G>T	8.37:g.99168595G>T	ENSP00000385787:p.Ser792Ile					POP1_uc011lgv.1_Missense_Mutation_p.S792I|POP1_uc003yik.2_Missense_Mutation_p.S792I	p.S792I	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		15	2475	+	Breast(36;1.78e-06)		792					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.2375G>T	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	7.148	0.583167	0.13749	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.36340	1.26;1.26	3.58	1.74	0.24563	.	1.719140	0.02801	N	0.123206	T	0.26919	0.0659	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.15484	0.013	T	0.17684	-1.0361	10	0.22706	T	0.39	-21.1879	7.9853	0.30207	0.0:0.1749:0.6437:0.1814	.	792	Q99575	POP1_HUMAN	I	792	ENSP00000385787:S792I;ENSP00000339529:S792I	ENSP00000339529:S792I	S	+	2	0	POP1	99237771	0.200000	0.23398	0.010000	0.14722	0.214000	0.24535	1.166000	0.31834	0.200000	0.20447	0.591000	0.81541	AGT		PASS	0.507	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		72	117	72	117	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105105738	105105738	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:105105738G>A	ENST00000436393.2	+	21	3002	c.2761G>A	c.(2761-2763)Gtt>Att	p.V921I	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAGATAATGTTTCTACTAA	0.408										HNSCC(12;0.0054)																												uc003yls.2																			0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2761-2763)GTT>ATT		regulating synaptic membrane exocytosis 2							231.0	214.0	219.0					8																	105105738		876	1991	2867	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105105738G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2761G>A	8.37:g.105105738G>A	ENSP00000390665:p.Val921Ile	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.V994I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	p.V921I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		21	3002	+			375					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2761G>A		.	.	.	.	.	.	.	.	.	.	G	11.08	1.532743	0.27387	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.17528	2.27;2.61	5.85	-2.1	0.07210	.	.	.	.	.	T	0.13286	0.0322	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10847	-1.0612	8	0.44086	T	0.13	.	13.3525	0.60609	0.5083:0.0:0.4917:0.0	.	921	D6RA03	.	I	994;921	ENSP00000386228:V994I;ENSP00000390665:V921I	ENSP00000386228:V994I	V	+	1	0	RIMS2	105174914	0.913000	0.31002	0.983000	0.44433	0.983000	0.72400	0.428000	0.21395	-0.300000	0.08895	-0.339000	0.08088	GTT		PASS	0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		11	256	11	256	---	---	---	---
ANGPT1	284	broad.mit.edu	37	8	108334131	108334131	+	Silent	SNP	T	T	C	rs138395811		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:108334131T>C	ENST00000520734.1	-	3	486	c.201A>G	c.(199-201)aaA>aaG	p.K67K	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.K67K			Q15389	ANGP1_HUMAN	angiopoietin 1	267					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.K267K(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TACCACCTTCTTTAGTGCAAA	0.378																																						uc003ymn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(799-801)AAA>AAG		angiopoietin 1 precursor		T	,	1,4405	2.1+/-5.4	0,1,2202	153.0	140.0	144.0		801,801	5.4	1.0	8	dbSNP_134	144	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ANGPT1	NM_001146.3,NM_001199859.1	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	267/499,267/498	108334131	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108334131T>C	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.201A>G	8.37:g.108334131T>C						ANGPT1_uc011lhv.1_Silent_p.K67K|ANGPT1_uc003ymo.2_Silent_p.K267K|ANGPT1_uc003ymp.3_Silent_p.K67K	p.K267K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		4	1269	-	Breast(1;5.06e-08)		267					Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.801A>G																																																																																					PASS	0.378	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		69	71	69	71	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110376778	110376778	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:110376778G>A	ENST00000378402.5	+	2	180	c.76G>A	c.(76-78)Ggc>Agc	p.G26S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	26					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G26S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTTTCAGATGGCTCTCAAAT	0.348										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(76-78)GGC>AGC		fibrocystin L precursor							52.0	48.0	49.0					8																	110376778		1806	4064	5870	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110376778G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.76G>A	8.37:g.110376778G>A	ENSP00000367655:p.Gly26Ser	HNSCC(38;0.096)					p.G26S	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		2	180	+			26			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.76G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029801	0.35797	.	.	ENSG00000205038	ENST00000378402	D	0.86030	-2.06	4.81	3.64	0.41730	.	0.687162	0.12669	N	0.448975	T	0.72495	0.3467	L	0.27053	0.805	0.27193	N	0.960363	B	0.20887	0.049	B	0.15052	0.012	T	0.56129	-0.8030	10	0.11794	T	0.64	.	7.3185	0.26513	0.1657:0.0:0.8343:0.0	.	26	Q86WI1	PKHL1_HUMAN	S	26	ENSP00000367655:G26S	ENSP00000367655:G26S	G	+	1	0	PKHD1L1	110445954	1.000000	0.71417	0.988000	0.46212	0.776000	0.43924	1.493000	0.35605	0.799000	0.34018	0.585000	0.79938	GGC		PASS	0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	28	3	28	---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110986306	110986306	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:110986306G>A	ENST00000524391.1	-	2	1344	c.312C>T	c.(310-312)gaC>gaT	p.D104D	KCNV1_ENST00000297404.1_Silent_p.D104D|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	104					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.D104D(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCGAGCTGCGGTCGAAGAAGT	0.662																																						uc003ynr.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)	2						c.(310-312)GAC>GAT		potassium channel, subfamily V, member 1							44.0	37.0	39.0					8																	110986306		2203	4300	6503	SO:0001819	synonymous_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110986306G>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.312C>T	8.37:g.110986306G>A						KCNV1_uc010mcw.2_Silent_p.D104D	p.D104D	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		1	654	-	all_neural(195;0.219)		104			Cytoplasmic (Potential).		Q9UHJ4	Silent	SNP	ENST00000524391.1	37	c.312C>T	CCDS6314.1																																																																																				PASS	0.662	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		16	23	16	23	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131136348	131136348	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:131136348C>A	ENST00000518721.1	-	18	1745	c.1518G>T	c.(1516-1518)ctG>ctT	p.L506L	ASAP1_ENST00000357668.1_Silent_p.L506L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	506	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.L506L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CATTCTTGGCCAGCTGTAACA	0.328																																						uc003yta.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1516-1518)CTG>CTT		development and differentiation enhancing factor							76.0	86.0	82.0					8																	131136348		2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131136348C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1518G>T	8.37:g.131136348C>A						ASAP1_uc003ysz.1_Silent_p.L317L|ASAP1_uc011liw.1_Silent_p.L499L	p.L506L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			17	1546	-			506			Arf-GAP.		B2RNV3	Silent	SNP	ENST00000518721.1	37	c.1518G>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294866	0.40594	.	.	ENSG00000153317	ENST00000524124	.	.	.	5.95	4.11	0.48088	.	.	.	.	.	T	0.63450	0.2512	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60146	-0.7320	4	.	.	.	.	12.4088	0.55455	0.1337:0.7379:0.1284:0.0	.	.	.	.	C	327	.	.	G	-	1	0	ASAP1	131205530	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.626000	0.61269	0.800000	0.34041	0.655000	0.94253	GGC		PASS	0.328	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		60	82	60	82	---	---	---	---
TG	7038	broad.mit.edu	37	8	133961121	133961121	+	Silent	SNP	T	T	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:133961121T>G	ENST00000220616.4	+	27	5374	c.5334T>G	c.(5332-5334)ccT>ccG	p.P1778P	TG_ENST00000377869.1_Silent_p.P1721P|TG_ENST00000542445.1_Silent_p.P148P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1778					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.P1778P(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTACATGTCCTGGTGTGACAT	0.483																																						uc003ytw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(5332-5334)CCT>CCG		thyroglobulin precursor							234.0	204.0	214.0					8																	133961121		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133961121T>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5334T>G	8.37:g.133961121T>G						TG_uc010mdw.2_Silent_p.P537P|TG_uc011ljb.1_Silent_p.P147P	p.P1778P	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	27	5375	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1778			Type IIIB.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.5334T>G	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	4.863	0.160349	0.09287	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.56	-9.36	0.00629	.	.	.	.	.	T	0.17023	0.0409	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15636	-1.0430	4	.	.	.	.	4.0117	0.09626	0.1051:0.4156:0.2314:0.2479	.	.	.	.	G	234	.	.	W	+	1	0	TG	134030303	0.007000	0.16637	0.001000	0.08648	0.006000	0.05464	-1.292000	0.02772	-2.084000	0.00866	-0.993000	0.02533	TGG		PASS	0.483	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		17	173	17	173	---	---	---	---
SPATC1	375686	broad.mit.edu	37	8	145094893	145094893	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:145094893G>A	ENST00000377470.3	+	2	397	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPATC1_ENST00000447830.2_Missense_Mutation_p.E99K	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	99						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E8K(1)|p.E99K(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCTGGCCGAGATGCTAAC	0.637																																						uc011lkw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(295-297)GAG>AAG		spermatogenesis and centriole associated 1							74.0	77.0	76.0					8																	145094893		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145094893G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.295G>A	8.37:g.145094893G>A	ENSP00000366690:p.Glu99Lys					SPATC1_uc011lkx.1_Missense_Mutation_p.E99K	p.E99K	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	397	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		99					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.295G>A	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194588	0.22037	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.46063	0.88;0.88	4.7	2.86	0.33363	.	0.374074	0.22763	N	0.055936	T	0.21550	0.0519	N	0.22421	0.69	0.22171	N	0.99931	B;B	0.26935	0.164;0.072	B;B	0.22386	0.026;0.039	T	0.16335	-1.0406	10	0.09843	T	0.71	-22.4031	6.0503	0.19783	0.1041:0.1947:0.7011:0.0	.	99;99	B4DWW9;Q76KD6	.;SPERI_HUMAN	K	99	ENSP00000366690:E99K;ENSP00000387613:E99K	ENSP00000366690:E99K	E	+	1	0	SPATC1	145166881	0.986000	0.35501	0.942000	0.38095	0.010000	0.07245	1.773000	0.38563	1.093000	0.41377	-0.273000	0.10243	GAG		PASS	0.637	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		7	124	7	124	---	---	---	---
CPSF1	29894	broad.mit.edu	37	8	145624025	145624025	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:145624025C>G	ENST00000349769.3	-	18	1736	c.1642G>C	c.(1642-1644)Gac>Cac	p.D548H	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	548					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.D548H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TTGGGATTGTCCTCCTGTCAG	0.652																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1642-1644)GAC>CAC		cleavage and polyadenylation specific factor 1,							70.0	69.0	70.0					8																	145624025		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145624025C>G	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1642G>C	8.37:g.145624025C>G	ENSP00000339353:p.Asp548His						p.D548H	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		18	1717	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		548					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1642G>C	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531519	0.64972	.	.	ENSG00000071894	ENST00000349769	T	0.47177	0.85	5.84	5.84	0.93424	.	0.855766	0.10777	N	0.635309	T	0.44074	0.1276	N	0.12746	0.255	0.29217	N	0.874177	B	0.26547	0.152	B	0.39465	0.3	T	0.51228	-0.8732	10	0.49607	T	0.09	-9.085	17.6128	0.88059	0.0:1.0:0.0:0.0	.	548	Q10570	CPSF1_HUMAN	H	548	ENSP00000339353:D548H	ENSP00000339353:D548H	D	-	1	0	CPSF1	145594833	0.481000	0.25941	0.984000	0.44739	0.647000	0.38526	3.762000	0.55250	2.760000	0.94817	0.655000	0.94253	GAC		PASS	0.652	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		4	147	4	147	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18574088	18574088	+	Nonsense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr9:18574088A>T	ENST00000380548.4	+	4	637	c.298A>T	c.(298-300)Aag>Tag	p.K100*	ADAMTSL1_ENST00000380566.4_Nonsense_Mutation_p.K100*|ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.K100*|ADAMTSL1_ENST00000327883.7_Nonsense_Mutation_p.K100*|ADAMTSL1_ENST00000380570.4_Nonsense_Mutation_p.K100*|ADAMTSL1_ENST00000431052.2_Nonsense_Mutation_p.K100*|MIR3152_ENST00000579801.1_RNA	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	100						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K100*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TAATGATGTCAAGCACCATGG	0.473																																						uc003zne.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(298-300)AAG>TAG		ADAMTS-like 1 isoform 4 precursor							157.0	144.0	148.0					9																	18574088		2203	4300	6503	SO:0001587	stop_gained	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18574088A>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.298A>T	9.37:g.18574088A>T	ENSP00000369921:p.Lys100*					ADAMTSL1_uc003znb.2_Nonsense_Mutation_p.K100*|ADAMTSL1_uc003znc.3_Nonsense_Mutation_p.K100*	p.K100*	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	4	425	+			100					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	ENST00000380548.4	37	c.298A>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	37	5.985566	0.97173	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	15.4522	0.75282	1.0:0.0:0.0:0.0	.	.	.	.	X	100	.	ENSP00000276935:K100X	K	+	1	0	ADAMTSL1	18564088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.518000	0.67068	2.118000	0.64928	0.523000	0.50628	AAG		PASS	0.473	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			40	86	40	86	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	uc003zoe.2				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)		urinary_tract(2)|lung(1)|prostate(1)	lung(2)|ovary(1)	3						c.(496-498)AGC>AGT		myeloid/lymphoid or mixed-lineage leukemia							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_uc011lne.1_Silent_p.S134S|MLLT3_uc011lnf.1_Silent_p.S163S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A128V	p.S166S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	757	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				PASS	0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	32	4	32	---	---	---	---
GALNT12	79695	broad.mit.edu	37	9	101585705	101585705	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr9:101585705G>T	ENST00000375011.3	+	2	539	c.539G>T	c.(538-540)aGa>aTa	p.R180I		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	180	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R180I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TACAGTGATAGAGGTGAGTCC	0.537																																						uc004ayz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(538-540)AGA>ATA		N-acetylgalactosaminyltransferase 12							72.0	69.0	70.0					9																	101585705		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101585705G>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.539G>T	9.37:g.101585705G>T	ENSP00000364150:p.Arg180Ile						p.R180I	NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN			2	539	+		Acute lymphoblastic leukemia(62;0.0559)	180			Catalytic subdomain A.|Lumenal (Potential).		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.539G>T	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053792	0.55218	.	.	ENSG00000119514	ENST00000375011	T	0.59224	0.28	5.37	3.53	0.40419	Glycosyl transferase, family 2 (1);	0.091863	0.85682	D	0.000000	T	0.54679	0.1873	L	0.46741	1.465	0.80722	D	1	D	0.54397	0.966	P	0.49192	0.602	T	0.55933	-0.8062	10	0.52906	T	0.07	.	9.0588	0.36423	0.1771:0.0:0.8229:0.0	.	180	Q8IXK2	GLT12_HUMAN	I	180	ENSP00000364150:R180I	ENSP00000364150:R180I	R	+	2	0	GALNT12	100625526	1.000000	0.71417	0.979000	0.43373	0.531000	0.34715	4.565000	0.60836	1.236000	0.43740	0.655000	0.94253	AGA		PASS	0.537	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		31	38	31	38	---	---	---	---
OR13C8	138802	broad.mit.edu	37	9	107332380	107332380	+	Missense_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr9:107332380T>A	ENST00000335040.1	+	1	932	c.932T>A	c.(931-933)cTg>cAg	p.L311Q		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L311Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAAACATACTGTGTAGGAAA	0.358																																						uc011lvo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(931-933)CTG>CAG		olfactory receptor, family 13, subfamily C,							46.0	48.0	48.0					9																	107332380		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332380T>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.932T>A	9.37:g.107332380T>A	ENSP00000334068:p.Leu311Gln						p.L311Q	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	932	+			311			Cytoplasmic (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.932T>A	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250495	0.39797	.	.	ENSG00000186943	ENST00000335040	T	0.51071	0.72	4.9	3.73	0.42828	.	0.157768	0.29335	N	0.012454	T	0.49150	0.1540	M	0.77486	2.375	0.09310	N	1	P	0.48503	0.911	P	0.45232	0.474	T	0.52208	-0.8606	10	0.87932	D	0	.	5.7051	0.17903	0.17:0.0:0.177:0.653	.	311	Q8NGS7	O13C8_HUMAN	Q	311	ENSP00000334068:L311Q	ENSP00000334068:L311Q	L	+	2	0	OR13C8	106372201	0.057000	0.20700	0.849000	0.33467	0.719000	0.41307	2.270000	0.43355	0.959000	0.37980	0.459000	0.35465	CTG		PASS	0.358	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			38	33	38	33	---	---	---	---
IKBKAP	8518	broad.mit.edu	37	9	111679827	111679827	+	Splice_Site	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr9:111679827C>A	ENST00000374647.5	-	9	1171	c.864G>T	c.(862-864)aaG>aaT	p.K288N	IKBKAP_ENST00000537196.1_De_novo_Start_OutOfFrame	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	288					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.K288N(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGGCACTTACCTTAACCTCAT	0.368																																						uc004bdm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(862-864)AAG>AAT		inhibitor of kappa light polypeptide gene							117.0	119.0	118.0					9																	111679827		2203	4300	6503	SO:0001630	splice_region_variant	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111679827C>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.864+1G>T	9.37:g.111679827C>A						IKBKAP_uc004bdl.2_Translation_Start_Site|IKBKAP_uc011lwc.1_Missense_Mutation_p.K174N|IKBKAP_uc010mtq.2_Translation_Start_Site	p.K288N	NM_003640	NP_003631	O95163	ELP1_HUMAN			9	1384	-			288					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.864G>T	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298428	0.81025	.	.	ENSG00000070061	ENST00000374647	T	0.28454	1.61	5.08	5.08	0.68730	Six-bladed beta-propeller, TolB-like (1);	0.044406	0.85682	D	0.000000	T	0.58061	0.2096	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.60959	-0.7159	9	.	.	.	-18.2761	16.3271	0.82987	0.0:1.0:0.0:0.0	.	288	O95163	ELP1_HUMAN	N	288	ENSP00000363779:K288N	.	K	-	3	2	IKBKAP	110719648	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.559000	0.53756	2.529000	0.85273	0.561000	0.74099	AAG		PASS	0.368	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1		Missense_Mutation	24	91	24	91	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120476737	120476737	+	Silent	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr9:120476737C>T	ENST00000355622.6	+	3	2432	c.2331C>T	c.(2329-2331)acC>acT	p.T777T	TLR4_ENST00000394487.4_Silent_p.T737T|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	777	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T777T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGGAGAAGACCCTGCTCAGGC	0.552																																						uc004bjz.2																			1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2329-2331)ACC>ACT		toll-like receptor 4 precursor							68.0	65.0	66.0					9																	120476737		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476737C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2331C>T	9.37:g.120476737C>T						TLR4_uc004bka.2_Silent_p.T737T|TLR4_uc004bkb.2_Silent_p.T577T	p.T777T	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2622	+			777			Cytoplasmic (Potential).|TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.2331C>T	CCDS6818.1																																																																																				PASS	0.552	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		20	40	20	40	---	---	---	---
MORN5	254956	broad.mit.edu	37	9	124936896	124936896	+	Silent	SNP	A	A	T	rs200835406		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr9:124936896A>T	ENST00000373764.3	+	4	491	c.429A>T	c.(427-429)ctA>ctT	p.L143L	MORN5_ENST00000536616.1_Silent_p.L143L|MORN5_ENST00000486801.1_3'UTR	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	143								p.L143L(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						ACCGCTTTCTAAGAAACGCAG	0.458																																						uc004blw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)CTA>CTT		MORN repeat containing 5							100.0	91.0	94.0					9																	124936896		2203	4300	6503	SO:0001819	synonymous_variant	254956							g.chr9:124936896A>T	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.429A>T	9.37:g.124936896A>T						MORN5_uc011lyn.1_Silent_p.L143L|MORN5_uc011lyo.1_3'UTR	p.L143L	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN			4	491	+			143					B7Z7I5|Q6ZQN1	Silent	SNP	ENST00000373764.3	37	c.429A>T	CCDS6836.1																																																																																				PASS	0.458	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469		38	74	38	74	---	---	---	---
MAPKAP1	79109	broad.mit.edu	37	9	128206877	128206877	+	Splice_Site	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr9:128206877C>A	ENST00000373498.1	-	10	1414	c.1346G>T	c.(1345-1347)aGt>aTt	p.S449I	MAPKAP1_ENST00000394063.1_Splice_Site_p.S257I|MAPKAP1_ENST00000265960.3_Splice_Site_p.S449I|MAPKAP1_ENST00000373497.5_Splice_Site_p.S162I|MAPKAP1_ENST00000350766.3_Splice_Site_p.S413I|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373511.2_Splice_Site_p.S402I|MAPKAP1_ENST00000373503.3_Splice_Site_p.S257I			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	449					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)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)	p.S449I(1)|p.S413I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TATTGCGTGACCTGCAGAGAC	0.463																																						uc004bpv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)	4						c.(1345-1347)AGT>ATT		mitogen-activated protein kinase associated							139.0	121.0	127.0					9																	128206877		2203	4300	6503	SO:0001630	splice_region_variant	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128206877C>A	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1346-1G>T	9.37:g.128206877C>A						MAPKAP1_uc011lzt.1_Missense_Mutation_p.S252I|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Missense_Mutation_p.S252I|MAPKAP1_uc011lzv.1_Missense_Mutation_p.S157I|MAPKAP1_uc004bpw.2_Missense_Mutation_p.S257I|MAPKAP1_uc004bpx.2_Missense_Mutation_p.S257I|MAPKAP1_uc004bpy.2_Missense_Mutation_p.S413I|MAPKAP1_uc004bpz.2_Missense_Mutation_p.S402I|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bpu.2_RNA	p.S449I	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN			11	1679	-			449					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.1346G>T	CCDS35140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.355458|5.355458	0.95854|0.95854	.|.	.|.	ENSG00000119487|ENSG00000119487	ENST00000444226|ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373497;ENST00000420643	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.036116	.|0.85682	.|D	.|0.000000	T|T	0.78130|0.78130	0.4235|0.4235	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.56746	.|0.973;0.94;0.963;0.977	.|P;P;P;P	.|0.61003	.|0.877;0.754;0.735;0.882	T|T	0.78959|0.78959	-0.1998|-0.1998	5|9	.|0.87932	.|D	.|0	.|.	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|162;402;413;449	.|B7Z5E5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.|.;.;.;SIN1_HUMAN	S|I	20|402;413;257;449;449;257;162;221	.|.	.|ENSP00000265960:S449I	R|S	-|-	3|2	2|0	MAPKAP1|MAPKAP1	127246698|127246698	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.206000|7.206000	0.77891|0.77891	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	AGG|AGT		PASS	0.463	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1		Missense_Mutation	28	40	28	40	---	---	---	---
ZNF485	220992	broad.mit.edu	37	10	44104702	44104702	+	Splice_Site	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:44104702G>T	ENST00000361807.3	+	4	345		c.e4-1		ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Splice_Site	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485						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.?(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTTATGAACAGGGCTTCTCTC	0.463																																						uc010qfc.1																			2	Unknown(2)		lung(2)		0						c.e4-1		zinc finger protein 485							42.0	40.0	41.0					10																	44104702		2203	4300	6503	SO:0001630	splice_region_variant	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44104702G>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.152-1G>T	10.37:g.44104702G>T						ZNF485_uc010qfd.1_Intron	p.G51_splice	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN			4	346	+								B4DSE6|Q96CL0	Splice_Site	SNP	ENST00000361807.3	37	c.152_splice	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872047	0.33069	.	.	ENSG00000198298	ENST00000361807;ENST00000430885;ENST00000374435	.	.	.	3.04	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6839	0.40087	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF485	43424708	0.951000	0.32395	0.167000	0.22817	0.701000	0.40568	2.858000	0.48356	1.697000	0.51169	0.455000	0.32223	.		PASS	0.463	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312	Intron	14	35	14	35	---	---	---	---
OGDHL	55753	broad.mit.edu	37	10	50953543	50953543	+	Splice_Site	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:50953543C>A	ENST00000374103.4	-	12	1562		c.e12-1		OGDHL_ENST00000419399.1_Splice_Site|OGDHL_ENST00000432695.1_Splice_Site	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like						glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTAACAGACCTGCAGGAGCA	0.587																																						uc001jie.2																			1	Unknown(1)		lung(1)	pancreas(1)	1						c.e12-1		oxoglutarate dehydrogenase-like isoform a							64.0	62.0	63.0					10																	50953543		2203	4300	6503	SO:0001630	splice_region_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50953543C>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1477-1G>T	10.37:g.50953543C>A						OGDHL_uc009xog.2_Splice_Site_p.V520_splice|OGDHL_uc010qgt.1_Splice_Site_p.V436_splice|OGDHL_uc010qgu.1_Splice_Site_p.V284_splice|OGDHL_uc009xoh.2_Splice_Site_p.V284_splice	p.V493_splice	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			12	1619	-								A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Splice_Site	SNP	ENST00000374103.4	37	c.1477_splice	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471041	0.84533	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3156	0.94211	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OGDHL	50623549	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.734000	0.84928	2.647000	0.89833	0.650000	0.86243	.		PASS	0.587	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	Intron	12	86	12	86	---	---	---	---
OGDHL	55753	broad.mit.edu	37	10	50953930	50953930	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:50953930C>A	ENST00000374103.4	-	11	1475	c.1390G>T	c.(1390-1392)Gcc>Tcc	p.A464S	OGDHL_ENST00000419399.1_Missense_Mutation_p.A407S|OGDHL_ENST00000432695.1_Missense_Mutation_p.A255S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	464					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.A464S(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGGTCATCGGCATTCACATGG	0.562																																						uc001jie.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1390-1392)GCC>TCC		oxoglutarate dehydrogenase-like isoform a							107.0	92.0	97.0					10																	50953930		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50953930C>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1390G>T	10.37:g.50953930C>A	ENSP00000363216:p.Ala464Ser					OGDHL_uc009xog.2_Missense_Mutation_p.A491S|OGDHL_uc010qgt.1_Missense_Mutation_p.A407S|OGDHL_uc010qgu.1_Missense_Mutation_p.A255S|OGDHL_uc009xoh.2_Missense_Mutation_p.A255S	p.A464S	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			11	1532	-			464					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1390G>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620120	0.46736	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.95656	2.49;2.49;-3.77	5.14	4.21	0.49690	Dehydrogenase, E1 component (1);	0.115184	0.64402	N	0.000016	D	0.93128	0.7812	L	0.42632	1.34	0.80722	D	1	B;B;B	0.26744	0.158;0.01;0.116	B;B;B	0.34590	0.182;0.119;0.186	D	0.90246	0.4290	10	0.30854	T	0.27	.	13.576	0.61875	0.2825:0.7175:0.0:0.0	.	407;255;464	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	S	464;407;255	ENSP00000363216:A464S;ENSP00000401356:A407S;ENSP00000390240:A255S	ENSP00000363216:A464S	A	-	1	0	OGDHL	50623936	1.000000	0.71417	0.938000	0.37757	0.664000	0.39144	4.799000	0.62517	1.262000	0.44165	0.655000	0.94253	GCC		PASS	0.562	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		29	76	29	76	---	---	---	---
SGMS1	259230	broad.mit.edu	37	10	52087052	52087052	+	Missense_Mutation	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:52087052T>C	ENST00000361781.2	-	8	1613	c.654A>G	c.(652-654)atA>atG	p.I218M	SGMS1_ENST00000361543.2_3'UTR|SGMS1_ENST00000429490.1_Missense_Mutation_p.I49M	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	224					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.I218M(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCGTGCCAACTATGCAGAAAA	0.378																																						uc001jje.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(652-654)ATA>ATG		sphingomyelin synthase 1							87.0	82.0	83.0					10																	52087052		2203	4300	6503	SO:0001583	missense	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52087052T>C	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.654A>G	10.37:g.52087052T>C	ENSP00000354829:p.Ile218Met					SGMS1_uc010qhk.1_Missense_Mutation_p.I49M|SGMS1_uc009xot.1_RNA|SGMS1_uc010qhl.1_RNA	p.I218M	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN			8	1608	-			224			Helical; (Potential).		Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	ENST00000361781.2	37	c.654A>G	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946122	0.53079	.	.	ENSG00000198964	ENST00000412547;ENST00000361781;ENST00000429490	T	0.50813	0.73	5.73	5.73	0.89815	.	0.097634	0.64402	D	0.000002	T	0.40570	0.1122	L	0.37697	1.125	0.80722	D	1	B;B	0.32338	0.209;0.365	B;B	0.31442	0.073;0.13	T	0.39187	-0.9626	10	0.72032	D	0.01	-18.8003	14.2815	0.66216	0.0:0.0:0.0:1.0	.	49;224	B4DJU2;Q86VZ5	.;SMS1_HUMAN	M	18;218;49	ENSP00000354829:I218M	ENSP00000354829:I218M	I	-	3	3	SGMS1	51757058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.659000	0.37387	2.324000	0.78689	0.533000	0.62120	ATA		PASS	0.378	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		14	45	14	45	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61832138	61832139	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:61832138_61832139GC>AA	ENST00000280772.2	-	37	8691_8692	c.8500_8501GC>TT	c.(8500-8502)GCa>TTa	p.A2834L	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2834					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A2834L(1)|p.A2834V(1)|p.A2834S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATATGACATGCCAAGTCTTTA	0.406																																						uc001jky.2																			3	Substitution - Missense(3)		lung(3)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(8500-8502)GCA>GTA|c.(8500-8502)GCA>TCA		ankyrin 3 isoform 1																																				SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832138G>A|g.chr10:61832139C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8500_8501delinsAA	10.37:g.61832138_61832139delinsAA	ENSP00000280772:p.Ala2834Leu					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.A2834V|p.A2834S	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	8693|8692	-			2834					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.8501C>T|c.8500G>T	CCDS7258.1																																																																																				PASS	0.406	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		35	101|102	35	101	---	---	---	---
RHOBTB1	9886	broad.mit.edu	37	10	62652698	62652698	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:62652698C>A	ENST00000337910.5	-	5	689	c.352G>T	c.(352-354)Gtg>Ttg	p.V118L	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.V118L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	118	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.V118L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATGCTTTTCACATGATTTAGG	0.438																																						uc001jli.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(352-354)GTG>TTG		Rho-related BTB domain containing 1							144.0	136.0	139.0					10																	62652698		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62652698C>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.352G>T	10.37:g.62652698C>A	ENSP00000338671:p.Val118Leu					RHOBTB1_uc001jlh.2_Missense_Mutation_p.V118L|RHOBTB1_uc001jlj.2_Missense_Mutation_p.V118L|RHOBTB1_uc001jlk.2_Missense_Mutation_p.V118L|RHOBTB1_uc009xpe.1_Intron	p.V118L	NM_014836	NP_055651	O94844	RHBT1_HUMAN			6	790	-	Prostate(12;0.0112)		118			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.352G>T	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869961	0.91587	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.79653	-1.29;-1.29	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.86598	0.5971	L	0.55103	1.725	0.80722	D	1	D	0.56521	0.976	P	0.57057	0.812	D	0.86199	0.1617	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	118	O94844	RHBT1_HUMAN	L	118	ENSP00000350595:V118L;ENSP00000338671:V118L	ENSP00000338671:V118L	V	-	1	0	RHOBTB1	62322704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.941000	0.99782	0.655000	0.94253	GTG		PASS	0.438	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			14	96	14	96	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68526159	68526159	+	Missense_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:68526159T>A	ENST00000433211.2	-	9	1318	c.1144A>T	c.(1144-1146)Ata>Tta	p.I382L	CTNNA3_ENST00000373744.4_Missense_Mutation_p.I382L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.I382L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACATGATCTATAATAGCCTTG	0.383																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1144-1146)ATA>TTA		catenin, alpha 3							109.0	108.0	108.0					10																	68526159		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68526159T>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1144A>T	10.37:g.68526159T>A	ENSP00000389714:p.Ile382Leu					CTNNA3_uc001jmw.2_Missense_Mutation_p.I382L|CTNNA3_uc001jmx.3_Missense_Mutation_p.I382L	p.I382L	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			9	1267	-			382						Missense_Mutation	SNP	ENST00000433211.2	37	c.1144A>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226727	0.79576	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.36340	1.26;1.26	6.17	5.05	0.67936	.	0.000000	0.64402	D	0.000003	T	0.28599	0.0708	L	0.33485	1.01	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.16722	0.016;0.009	T	0.05178	-1.0901	10	0.52906	T	0.07	-28.3286	10.3425	0.43887	0.0:0.0763:0.0:0.9237	.	382;382	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	L	382	ENSP00000389714:I382L;ENSP00000362849:I382L	ENSP00000362849:I382L	I	-	1	0	CTNNA3	68196165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.296000	0.72751	1.165000	0.42670	0.533000	0.62120	ATA		PASS	0.383	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		34	71	34	71	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73464789	73464789	+	Missense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:73464789A>T	ENST00000224721.6	+	24	2875	c.2870A>T	c.(2869-2871)gAg>gTg	p.E957V	CDH23_ENST00000299366.7_Missense_Mutation_p.E997V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	952	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.E957V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCACCACCGAGCTGGACCGC	0.667																																						uc001jrx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(2854-2856)GAG>GTG		cadherin-like 23 isoform 1 precursor							49.0	53.0	52.0					10																	73464789		2077	4184	6261	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73464789A>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2870A>T	10.37:g.73464789A>T	ENSP00000224721:p.Glu957Val					CDH23_uc001jry.2_Missense_Mutation_p.E568V|CDH23_uc001jrz.2_Missense_Mutation_p.E568V	p.E952V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			24	3232	+			952			Cadherin 9.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.2855A>T		.	.	.	.	.	.	.	.	.	.	A	14.52	2.559855	0.45590	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.5	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.084194	0.46145	D	0.000320	T	0.28499	0.0705	N	0.05078	-0.115	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.002;0.002	T	0.09729	-1.0661	9	0.30854	T	0.27	.	8.6849	0.34232	0.6564:0.0:0.0:0.3436	.	952;955;952	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	V	957;952;952;955;955;469	.	ENSP00000224721:E957V	E	+	2	0	CDH23	73134795	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	2.957000	0.49137	2.082000	0.62665	0.459000	0.35465	GAG		PASS	0.667	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		32	88	32	88	---	---	---	---
LIPK	643414	broad.mit.edu	37	10	90490874	90490874	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:90490874G>A	ENST00000404190.1	+	3	358	c.358G>A	c.(358-360)Gga>Aga	p.G120R		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	120					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.G120R(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		GAACAGCCGAGGAAACACTTG	0.438																																						uc010qmv.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(358-360)GGA>AGA		lipase, family member K precursor							76.0	76.0	76.0					10																	90490874		2011	4224	6235	SO:0001583	missense	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90490874G>A		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.358G>A	10.37:g.90490874G>A	ENSP00000383900:p.Gly120Arg						p.G120R	NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	3	358	+		Colorectal(252;0.0381)	120					A7KIH8	Missense_Mutation	SNP	ENST00000404190.1	37	c.358G>A	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105138	0.94245	.	.	ENSG00000204021	ENST00000404190	D	0.84070	-1.8	5.45	5.45	0.79879	Alpha/beta hydrolase fold-1 (1);	0.000000	0.52532	D	0.000062	D	0.95389	0.8503	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97054	0.9766	10	0.87932	D	0	-13.9165	18.2139	0.89879	0.0:0.0:1.0:0.0	.	120	Q5VXJ0	LIPK_HUMAN	R	120	ENSP00000383900:G120R	ENSP00000383900:G120R	G	+	1	0	LIPK	90480854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.501000	0.97979	2.836000	0.97738	0.655000	0.94253	GGA		PASS	0.438	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		3	21	3	21	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105200258	105200258	+	Missense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:105200258A>T	ENST00000369797.3	+	29	4454	c.4360A>T	c.(4360-4362)Agc>Tgc	p.S1454C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1454					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.S1454C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ggagATGCCCAGCAAGGAGAA	0.587																																						uc001kwy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(4360-4362)AGC>TGC		programmed cell death 11							46.0	54.0	51.0					10																	105200258		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105200258A>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4360A>T	10.37:g.105200258A>T	ENSP00000358812:p.Ser1454Cys						p.S1454C	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	29	4447	+		Colorectal(252;0.0747)|Breast(234;0.128)	1454					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.4360A>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.491906	0.64074	.	.	ENSG00000148843	ENST00000369797	T	0.10573	2.86	5.19	1.53	0.23141	.	0.879643	0.10332	N	0.687430	T	0.05868	0.0153	N	0.24115	0.695	0.09310	N	0.999999	P	0.41748	0.761	B	0.36289	0.221	T	0.31558	-0.9939	10	0.52906	T	0.07	-5.4389	1.6152	0.02701	0.5592:0.1752:0.0976:0.1679	.	1454	Q14690	RRP5_HUMAN	C	1454	ENSP00000358812:S1454C	ENSP00000358812:S1454C	S	+	1	0	PDCD11	105190248	0.042000	0.20092	0.356000	0.25785	0.582000	0.36321	0.700000	0.25601	0.099000	0.17552	0.459000	0.35465	AGC		PASS	0.587	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			5	29	5	29	---	---	---	---
PDZD8	118987	broad.mit.edu	37	10	119044590	119044590	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:119044590G>C	ENST00000334464.5	-	5	1893	c.1654C>G	c.(1654-1656)Cta>Gta	p.L552V	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	552	Pro-rich.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.L552V(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TTCGGTGGTAGTGGGTGACTT	0.418																																						uc001lde.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1654-1656)CTA>GTA		PDZ domain containing 8							150.0	149.0	149.0					10																	119044590		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119044590G>C	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1654C>G	10.37:g.119044590G>C	ENSP00000334642:p.Leu552Val						p.L552V	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	1853	-		Colorectal(252;0.19)	552			Pro-rich.		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.1654C>G	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	4.206	0.037063	0.08148	.	.	ENSG00000165650	ENST00000334464	D	0.85171	-1.95	5.93	2.28	0.28536	.	0.752143	0.12965	N	0.424666	T	0.62901	0.2466	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.51108	-0.8747	10	0.37606	T	0.19	2.8942	2.436	0.04483	0.1391:0.3828:0.2619:0.2161	.	552	Q8NEN9	PDZD8_HUMAN	V	552	ENSP00000334642:L552V	ENSP00000334642:L552V	L	-	1	2	PDZD8	119034580	0.999000	0.42202	0.997000	0.53966	0.138000	0.21146	0.929000	0.28844	1.477000	0.48234	0.591000	0.81541	CTA		PASS	0.418	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		13	153	13	153	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125506412	125506412	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr10:125506412C>G	ENST00000241305.3	-	14	2293	c.2139G>C	c.(2137-2139)agG>agC	p.R713S	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	713					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R713S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TGAAGTCACACCTTGTGGCCC	0.552																																						uc001lhk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2137-2139)AGG>AGC		carboxypeptidase X (M14 family), member 2							163.0	154.0	157.0					10																	125506412		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125506412C>G	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2139G>C	10.37:g.125506412C>G	ENSP00000241305:p.Arg713Ser					CPXM2_uc001lhj.2_Intron	p.R713S	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	14	2464	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	713					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.2139G>C	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	4.038	0.004623	0.07866	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.42131	0.98	5.24	-8.23	0.01033	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.737275	0.12160	N	0.494061	T	0.24586	0.0596	N	0.25060	0.705	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.23691	-1.0181	10	0.13853	T	0.58	-13.8273	18.3196	0.90232	0.0776:0.1449:0.7241:0.0534	.	713	Q8N436	CPXM2_HUMAN	S	713;546;688	ENSP00000241305:R713S	ENSP00000241305:R713S	R	-	3	2	CPXM2	125496402	0.000000	0.05858	0.001000	0.08648	0.754000	0.42855	-3.107000	0.00601	-1.303000	0.02332	-0.137000	0.14449	AGG		PASS	0.552	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		30	186	30	186	---	---	---	---
SIGIRR	59307	broad.mit.edu	37	11	405988	405988	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:405988G>A	ENST00000431843.2	-	10	1447	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	SIGIRR_ENST00000397632.3_Missense_Mutation_p.R381W|SIGIRR_ENST00000531205.1_Missense_Mutation_p.P477L|SIGIRR_ENST00000382520.2_Missense_Mutation_p.P477L|SIGIRR_ENST00000332725.3_Missense_Mutation_p.R381W|SIGIRR_ENST00000529486.1_5'Flank	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	381					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R381W(2)		cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGCTGCTCCGGCTCTCTCCC	0.632																																						uc001lpd.2																			2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(1141-1143)CGG>TGG		single Ig IL-1R-related molecule							44.0	37.0	39.0					11																	405988		2199	4291	6490	SO:0001583	missense	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:405988G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.1141C>T	11.37:g.405988G>A	ENSP00000403104:p.Arg381Trp					SIGIRR_uc001lpf.2_Missense_Mutation_p.R381W|SIGIRR_uc001lpe.1_Missense_Mutation_p.R381W|SIGIRR_uc001lpg.2_Missense_Mutation_p.P477L	p.R381W	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1471	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	381			Cytoplasmic (Potential).		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	37	c.1141C>T	CCDS31325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.31|12.31	1.899255|1.899255	0.33535|0.33535	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000531205;ENST00000382520|ENST00000528845;ENST00000431843;ENST00000397632;ENST00000332725	T;T|T;T;T	0.04406|0.03386	3.63;3.63|3.95;3.95;3.95	3.56|3.56	1.56|1.56	0.23342|0.23342	.|.	.|.	.|.	.|.	.|.	T|T	0.03136|0.03136	0.0092|0.0092	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B|D	0.29671|0.54047	0.254|0.964	B|B	0.14578|0.36766	0.011|0.232	T|T	0.45101|0.45101	-0.9284|-0.9284	9|9	0.87932|0.72032	D|D	0|0.01	.|.	8.0633|8.0633	0.30646|0.30646	0.0:0.1742:0.6453:0.1805|0.0:0.1742:0.6453:0.1805	.|.	477|381	C9JFX4|Q6IA17	.|SIGIR_HUMAN	L|W	477|101;381;381;381	ENSP00000433022:P477L;ENSP00000371960:P477L|ENSP00000403104:R381W;ENSP00000380756:R381W;ENSP00000333656:R381W	ENSP00000371960:P477L|ENSP00000333656:R381W	P|R	-|-	2|1	0|2	SIGIRR|SIGIRR	395988|395988	0.359000|0.359000	0.24955|0.24955	0.010000|0.010000	0.14722|0.14722	0.828000|0.828000	0.46876|0.46876	3.442000|3.442000	0.52900|0.52900	0.142000|0.142000	0.18901|0.18901	-0.515000|-0.515000	0.04445|0.04445	CCG|CGG		PASS	0.632	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		3	20	3	20	---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4407416	4407416	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:4407416C>T	ENST00000254436.7	-	6	942	c.830G>A	c.(829-831)gGg>gAg	p.G277E	TRIM21_ENST00000543625.1_Missense_Mutation_p.G277E	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	277	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G277E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTTCTTCAGCCCTGGCACATG	0.542																																						uc001lyy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(829-831)GGG>GAG		tripartite motif protein 21							81.0	81.0	81.0					11																	4407416		2042	4193	6235	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4407416C>T	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.830G>A	11.37:g.4407416C>T	ENSP00000254436:p.Gly277Glu						p.G277E	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	6	943	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	277			B30.2/SPRY.		Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.830G>A	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786208	0.49997	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.17854	2.25;2.25	3.75	3.75	0.43078	B30.2/SPRY domain (1);	0.158219	0.30920	N	0.008613	T	0.35537	0.0935	M	0.68317	2.08	0.20403	N	0.999901	D	0.76494	0.999	D	0.70227	0.968	T	0.03493	-1.1031	10	0.45353	T	0.12	.	11.3719	0.49704	0.0:1.0:0.0:0.0	.	277	P19474	RO52_HUMAN	E	277	ENSP00000254436:G277E;ENSP00000444045:G277E	ENSP00000254436:G277E	G	-	2	0	TRIM21	4363992	0.168000	0.22989	0.249000	0.24280	0.031000	0.12232	1.520000	0.35899	2.392000	0.81423	0.650000	0.86243	GGG		PASS	0.542	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		13	51	13	51	---	---	---	---
OR52A4	390053	broad.mit.edu	37	11	5142212	5142212	+	RNA	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:5142212A>G	ENST00000498233.1	-	0	1014							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I199I(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGACCTTATTAATGTAAACAT	0.388																																						uc001lzz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(595-597)ATT>ATC		olfactory receptor, family 52, subfamily A,							61.0	61.0	61.0					11																	5142212		2201	4298	6499			390053							g.chr11:5142212A>G			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142212A>G							p.I199I	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	597	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Silent	SNP	ENST00000498233.1	37	c.597T>C																																																																																					PASS	0.388	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		11	55	11	55	---	---	---	---
PARVA	55742	broad.mit.edu	37	11	12540006	12540006	+	Silent	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:12540006C>T	ENST00000550549.1	+	12	1033	c.984C>T	c.(982-984)tcC>tcT	p.S328S	PARVA_ENST00000539723.1_Silent_p.S328S|PARVA_ENST00000334956.8_Silent_p.S368S			Q9NVD7	PARVA_HUMAN	parvin, alpha	328	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S328S(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		TGAATGTCTCCTTTGCCTTTG	0.542																																						uc001mki.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(982-984)TCC>TCT		parvin, alpha							103.0	101.0	101.0					11																	12540006		1989	4163	6152	SO:0001819	synonymous_variant	55742				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding	g.chr11:12540006C>T	AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.984C>T	11.37:g.12540006C>T							p.S328S	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN		Epithelial(150;0.00624)	12	1033	+			328			CH 2.		Q96C85|Q9HA48	Silent	SNP	ENST00000550549.1	37	c.984C>T																																																																																					PASS	0.542	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018222		6	30	6	30	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17141433	17141433	+	Missense_Mutation	SNP	C	C	A	rs573278976		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:17141433C>A	ENST00000265970.7	-	15	2745	c.2746G>T	c.(2746-2748)Gcc>Tcc	p.A916S	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A536S	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	916	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)	p.A916S(1)|p.A916T(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CAGTTTGGGGCGCTTGCTAAT	0.363																																						uc001mmq.3																			2	Substitution - Missense(2)	p.A916T(1)	lung(1)|central_nervous_system(1)	lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(2746-2748)GCC>TCC		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						112.0	115.0	114.0					11																	17141433		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17141433C>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2746G>T	11.37:g.17141433C>A	ENSP00000265970:p.Ala916Ser					PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.A536S|PIK3C2A_uc001mmr.3_Intron	p.A916S	NM_002645	NP_002636	O00443	P3C2A_HUMAN			15	2812	-			916					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.2746G>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538597	0.85917	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.63255	-0.03;-0.03	5.28	4.37	0.52481	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.057131	0.64402	D	0.000001	T	0.78773	0.4336	M	0.81112	2.525	0.58432	D	0.999998	D	0.71674	0.998	D	0.69824	0.966	T	0.81967	-0.0690	10	0.72032	D	0.01	-7.3232	14.08	0.64914	0.0:0.9268:0.0:0.0732	.	916	O00443	P3C2A_HUMAN	S	916;536	ENSP00000265970:A916S;ENSP00000438687:A536S	ENSP00000265970:A916S	A	-	1	0	PIK3C2A	17098009	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.722000	0.68485	1.228000	0.43614	-0.224000	0.12420	GCC		PASS	0.363	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		24	62	24	62	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17450120	17450120	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:17450120G>C	ENST00000389817.3	-	13	1983	c.1915C>G	c.(1915-1917)Cag>Gag	p.Q639E	ABCC8_ENST00000302539.4_Missense_Mutation_p.Q639E|ABCC8_ENST00000528202.1_5'Flank			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	639					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.Q639E(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	ACCACCGCCTGGTACTTGCTG	0.607																																						uc001mnc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1915-1917)CAG>GAG		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						65.0	66.0	66.0					11																	17450120		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17450120G>C	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1915C>G	11.37:g.17450120G>C	ENSP00000374467:p.Gln639Glu						p.Q639E	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	13	2041	-			639			Cytoplasmic (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.1915C>G	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	8.243	0.807296	0.16467	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91124	-2.79;-2.79	4.83	4.83	0.62350	.	0.067771	0.64402	D	0.000010	D	0.84822	0.5557	L	0.40543	1.245	0.48040	D	0.999577	B	0.25312	0.123	B	0.22753	0.041	T	0.80160	-0.1498	10	0.05959	T	0.93	.	16.6974	0.85339	0.0:0.0:1.0:0.0	.	639	Q09428	ABCC8_HUMAN	E	639;639;643	ENSP00000374467:Q639E;ENSP00000303960:Q639E	ENSP00000303960:Q639E	Q	-	1	0	ABCC8	17406696	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	7.319000	0.79040	2.248000	0.74166	0.305000	0.20034	CAG		PASS	0.607	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		14	45	14	45	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36596185	36596185	+	Missense_Mutation	SNP	C	C	T	rs199474685		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:36596185C>T	ENST00000299440.5	+	2	1443	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	444			A -> V (in OS/T(-)B(-)NK(+) SCID; atypical; dbSNP:rs199474685). {ECO:0000269|PubMed:11133745}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A444V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GCTCTGAGGGCGAGGAATGAG	0.562									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	GRCh37	CM010072	RAG1	M		c.(1330-1332)GCG>GTG		recombination activating gene 1							67.0	64.0	65.0					11																	36596185		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596185C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1331C>T	11.37:g.36596185C>T	ENSP00000299440:p.Ala444Val					RAG1_uc001mwt.2_RNA	p.A444V	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	1455	+	all_lung(20;0.226)	all_hematologic(20;0.107)	444		A -> V (in OS/T(-)B(-)NK(+) SCID; atypical).	NBD.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1331C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360026	0.82353	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.71934	-0.61;-0.61	5.64	5.64	0.86602	RAG nonamer-binding domain (1);	0.058335	0.64402	D	0.000002	D	0.84170	0.5413	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.85159	0.0991	10	0.87932	D	0	.	19.7762	0.96393	0.0:1.0:0.0:0.0	.	444	P15918	RAG1_HUMAN	V	444	ENSP00000434610:A444V;ENSP00000299440:A444V	ENSP00000299440:A444V	A	+	2	0	RAG1	36552761	1.000000	0.71417	0.964000	0.40570	0.799000	0.45148	7.487000	0.81328	2.684000	0.91462	0.650000	0.86243	GCG		PASS	0.562	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		9	68	9	68	---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55032733	55032733	+	Silent	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:55032733T>A	ENST00000417545.2	+	2	488	c.402T>A	c.(400-402)tcT>tcA	p.S134S		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	118						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S118S(1)|p.S134S(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTCCAGCTCTCAGGAGCACC	0.512																																						uc010rid.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(400-402)TCT>TCA		tripartite motif-containing 48							52.0	48.0	49.0					11																	55032733		2189	4261	6450	SO:0001819	synonymous_variant	79097					intracellular	zinc ion binding	g.chr11:55032733T>A	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.402T>A	11.37:g.55032733T>A							p.S134S	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	488	+			118			B box-type.		Q9BUW4	Silent	SNP	ENST00000417545.2	37	c.402T>A	CCDS7947.2																																																																																				PASS	0.512	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			18	59	18	59	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433515	55433515	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:55433515G>T	ENST00000314259.3	+	1	902	c.873G>T	c.(871-873)gaG>gaT	p.E291D		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E291D(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGAATGCAGAGGTGAAAAGTG	0.458																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(871-873)GAG>GAT		olfactory receptor, family 4, subfamily C,							85.0	85.0	85.0					11																	55433515		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433515G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.873G>T	11.37:g.55433515G>T	ENSP00000324769:p.Glu291Asp					OR4C6_uc010rik.1_Missense_Mutation_p.E291D	p.E291D	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	1138	+			291			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.873G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316474	0.60524	.	.	ENSG00000181903	ENST00000314259	T	0.37411	1.2	4.0	0.633	0.17712	.	0.000000	0.38897	N	0.001527	T	0.37705	0.1013	L	0.33753	1.03	0.20489	N	0.999891	D	0.64830	0.994	D	0.65573	0.936	T	0.07233	-1.0783	10	0.62326	D	0.03	.	3.7652	0.08620	0.2993:0.0:0.5293:0.1713	.	291	Q8NH72	OR4C6_HUMAN	D	291	ENSP00000324769:E291D	ENSP00000324769:E291D	E	+	3	2	OR4C6	55190091	0.048000	0.20356	0.995000	0.50966	0.976000	0.68499	-0.070000	0.11523	0.686000	0.31488	0.530000	0.56133	GAG		PASS	0.458	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		14	44	14	44	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681351	55681351	+	Missense_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:55681351T>A	ENST00000344514.1	-	1	707	c.708A>T	c.(706-708)aaA>aaT	p.K236N		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K236N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAGAGAGAGCTTTGAACCTCC	0.408																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(706-708)AAA>AAT		olfactory receptor, family 5, subfamily W,							79.0	89.0	86.0					11																	55681351		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681351T>A	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.708A>T	11.37:g.55681351T>A	ENSP00000342448:p.Lys236Asn						p.K236N	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	708	-			236			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.708A>T	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.495717	0.44352	.	.	ENSG00000187612	ENST00000344514	T	0.00374	7.72	5.0	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000600	T	0.01421	0.0046	H	0.97240	3.965	0.29488	N	0.855829	D	0.64830	0.994	D	0.73708	0.981	T	0.10590	-1.0623	10	0.87932	D	0	.	7.729	0.28775	0.0:0.1776:0.0:0.8224	.	236	Q8NH69	OR5W2_HUMAN	N	236	ENSP00000342448:K236N	ENSP00000342448:K236N	K	-	3	2	OR5W2	55437927	0.145000	0.22656	0.988000	0.46212	0.265000	0.26407	-0.759000	0.04761	0.262000	0.21774	0.443000	0.29094	AAA		PASS	0.408	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		16	55	16	55	---	---	---	---
OR8K1	390157	broad.mit.edu	37	11	56113545	56113545	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:56113545G>T	ENST00000279783.2	+	1	125	c.31G>T	c.(31-33)Gca>Tca	p.A11S		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A11S(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CAATCACACGGCAGTGACCAA	0.378										HNSCC(65;0.19)																												uc010rjg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(31-33)GCA>TCA		olfactory receptor, family 8, subfamily K,							86.0	82.0	83.0					11																	56113545		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113545G>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.31G>T	11.37:g.56113545G>T	ENSP00000279783:p.Ala11Ser	HNSCC(65;0.19)					p.A11S	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	31	+	Esophageal squamous(21;0.00448)		11			Extracellular (Potential).		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.31G>T	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653784	0.29425	.	.	ENSG00000150261	ENST00000279783	T	0.00452	7.34	5.09	-0.0269	0.13928	.	0.654051	0.13560	N	0.378849	T	0.00178	0.0005	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.34129	-0.9841	10	0.52906	T	0.07	-2.0468	4.6003	0.12350	0.4669:0.0:0.3826:0.1505	.	11	Q8NGG5	OR8K1_HUMAN	S	11	ENSP00000279783:A11S	ENSP00000279783:A11S	A	+	1	0	OR8K1	55870121	0.001000	0.12720	0.000000	0.03702	0.312000	0.27988	0.094000	0.15107	0.183000	0.20059	0.448000	0.29417	GCA		PASS	0.378	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		10	61	10	61	---	---	---	---
MARK2	2011	broad.mit.edu	37	11	63672277	63672277	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:63672277C>T	ENST00000509502.2	+	16	2057	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S	MARK2_ENST00000377810.3_Missense_Mutation_p.P478S|MARK2_ENST00000502399.3_Missense_Mutation_p.P565S|MARK2_ENST00000425897.2_Missense_Mutation_p.P486S|MARK2_ENST00000315032.8_Missense_Mutation_p.P566S|MARK2_ENST00000413835.2_Missense_Mutation_p.P512S|MARK2_ENST00000508192.1_Missense_Mutation_p.P511S|MARK2_ENST00000513765.2_Missense_Mutation_p.P533S|MARK2_ENST00000402010.2_Missense_Mutation_p.P566S|MARK2_ENST00000377809.4_Missense_Mutation_p.P566S|MARK2_ENST00000408948.3_Missense_Mutation_p.P478S|MARK2_ENST00000361128.5_Missense_Mutation_p.P512S|MARK2_ENST00000350490.7_Missense_Mutation_p.P511S	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.P532S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAGCGTGTCCCTGTTGCCTC	0.627																																						uc001nxw.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|ovary(1)|lung(1)	3						c.(1696-1698)CCT>TCT		MAP/microtubule affinity-regulating kinase 2							78.0	60.0	66.0					11																	63672277		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63672277C>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1594C>T	11.37:g.63672277C>T	ENSP00000423974:p.Pro532Ser					MARK2_uc001nxx.2_Missense_Mutation_p.P512S|MARK2_uc001nxy.2_Missense_Mutation_p.P511S|MARK2_uc001nxv.3_Missense_Mutation_p.P511S|MARK2_uc001nxz.3_Missense_Mutation_p.P532S|MARK2_uc009yoy.2_Missense_Mutation_p.P486S	p.P566S	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			16	2275	+			566						Missense_Mutation	SNP	ENST00000509502.2	37	c.1696C>T	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	c	9.366	1.069184	0.20147	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.51991	0.1707	L	0.42581	1.335	0.58432	D	0.999995	B;P;B;D;B;B	0.89917	0.165;0.796;0.032;1.0;0.245;0.14	B;P;B;D;B;B	0.87578	0.14;0.615;0.073;0.998;0.047;0.166	T	0.47446	-0.9117	10	0.40728	T	0.16	.	16.5491	0.84464	0.0:1.0:0.0:0.0	.	486;532;511;512;566;511	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	S	566;566;566;512;478;511;512;511;567;532;533;478;486	ENSP00000385751:P566S;ENSP00000326632:P566S;ENSP00000367040:P566S;ENSP00000389184:P512S;ENSP00000367041:P478S;ENSP00000425765:P511S;ENSP00000355091:P512S;ENSP00000294247:P511S;ENSP00000423974:P532S;ENSP00000421075:P533S;ENSP00000386128:P478S;ENSP00000415494:P486S	ENSP00000326632:P566S	P	+	1	0	MARK2	63428853	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	7.509000	0.81698	2.508000	0.84585	0.552000	0.68991	CCT		PASS	0.627	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		14	59	14	59	---	---	---	---
SNX32	254122	broad.mit.edu	37	11	65620199	65620199	+	Silent	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:65620199C>T	ENST00000308342.6	+	11	1436	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	337					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.A337A(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TGCGGCCCGCCGAGAGCCACC	0.701																																						uc001ofr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1009-1011)GCC>GCT		sorting nexin 6B							13.0	17.0	16.0					11																	65620199		2196	4288	6484	SO:0001819	synonymous_variant	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65620199C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1011C>T	11.37:g.65620199C>T							p.A337A	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	11	1138	+			337					Q8IW53|Q96NG4	Silent	SNP	ENST00000308342.6	37	c.1011C>T	CCDS8113.2																																																																																				PASS	0.701	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		4	19	4	19	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82868499	82868499	+	Silent	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:82868499G>T	ENST00000298281.4	+	1	470	c.18G>T	c.(16-18)ccG>ccT	p.P6P		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	6					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.P105P(1)|p.P6P(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AGCAGACGCCGGCCGAGGCCG	0.652																																						uc001ozx.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(16-18)CCG>CCT		pre-mRNA cleavage complex II protein Pcf11							27.0	32.0	31.0					11																	82868499		1828	4071	5899	SO:0001819	synonymous_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82868499G>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.18G>T	11.37:g.82868499G>T						PCF11_uc010rsu.1_Silent_p.P6P|PCF11_uc001ozy.2_Silent_p.P6P	p.P6P	NM_015885	NP_056969	O94913	PCF11_HUMAN			1	363	+			6					A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	c.18G>T	CCDS44689.1																																																																																				PASS	0.652	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		23	58	23	58	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92616492	92616492	+	Silent	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:92616492C>T	ENST00000298047.6	+	23	12887	c.12870C>T	c.(12868-12870)ccC>ccT	p.P4290P	FAT3_ENST00000409404.2_Silent_p.P4290P|FAT3_ENST00000533797.1_Silent_p.P625P|FAT3_ENST00000525166.1_Silent_p.P4140P|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4290					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.P4290P(2)|p.P865P(1)		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)				CCAACCTCCCCGCCGTGTCAC	0.652										TCGA Ovarian(4;0.039)																												uc001pdj.3																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12868-12870)CCC>CCT		FAT tumor suppressor homolog 3							23.0	29.0	27.0					11																	92616492		2050	4143	6193	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616492C>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.12870C>T	11.37:g.92616492C>T		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.P730P	p.P4290P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12887	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4290			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.12870C>T																																																																																					PASS	0.652	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	23	10	23	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108381393	108381393	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:108381393C>T	ENST00000265843.4	-	6	4951	c.4841G>A	c.(4840-4842)aGa>aAa	p.R1614K	EXPH5_ENST00000428840.1_Missense_Mutation_p.R1538K|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1426K|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1607K|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1614					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.R1614K(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGCTACATGTCTTCTGGGGCT	0.463																																						uc001pkk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(4840-4842)AGA>AAA		exophilin 5 isoform a							117.0	112.0	113.0					11																	108381393		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381393C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4841G>A	11.37:g.108381393C>T	ENSP00000265843:p.Arg1614Lys					EXPH5_uc010rvy.1_Missense_Mutation_p.R1426K|EXPH5_uc010rvz.1_Missense_Mutation_p.R1458K|EXPH5_uc010rwa.1_Missense_Mutation_p.R1538K	p.R1614K	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4952	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1614					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4841G>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493570	0.44352	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.03212	4.23;4.16;4.01;4.23;4.05	5.95	4.08	0.47627	.	0.244423	0.36665	N	0.002467	T	0.03348	0.0097	L	0.48642	1.525	0.22521	N	0.999027	B	0.20052	0.041	B	0.16722	0.016	T	0.46484	-0.9188	10	0.07813	T	0.8	-10.1927	6.5903	0.22644	0.0:0.6401:0.1927:0.1672	.	1614	Q8NEV8	EXPH5_HUMAN	K	1614;1538;1426;1607;1538	ENSP00000265843:R1614K;ENSP00000391966:R1538K;ENSP00000411390:R1426K;ENSP00000432546:R1607K;ENSP00000432683:R1538K	ENSP00000265843:R1614K	R	-	2	0	EXPH5	107886603	1.000000	0.71417	0.996000	0.52242	0.881000	0.50899	0.947000	0.29082	0.837000	0.34925	0.650000	0.86243	AGA		PASS	0.463	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		12	137	12	137	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118374454	118374454	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:118374454A>G	ENST00000389506.5	+	27	7838	c.7838A>G	c.(7837-7839)aAa>aGa	p.K2613R	KMT2A_ENST00000534358.1_Missense_Mutation_p.K2616R|KMT2A_ENST00000354520.4_Missense_Mutation_p.K2575R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2613					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.K2613R(1)|p.K2616R(1)									GGCTCTTTTAAAAGGAGGTAT	0.468																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Missense(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(7837-7839)AAA>AGA		myeloid/lymphoid or mixed-lineage leukemia							57.0	52.0	54.0					11																	118374454		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374454A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7838A>G	11.37:g.118374454A>G	ENSP00000374157:p.Lys2613Arg					MLL_uc001ptb.2_Missense_Mutation_p.K2616R	p.K2613R	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	7861	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2613					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.7838A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584158	0.65992	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.87729	-2.29;-2.29;-2.24	5.95	5.95	0.96441	.	0.048288	0.85682	D	0.000000	D	0.89777	0.6813	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	D	0.91147	0.4950	10	0.87932	D	0	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	2616;2613	E9PQG7;Q03164	.;MLL1_HUMAN	R	2616;2613;2575;1523	ENSP00000436786:K2616R;ENSP00000374157:K2613R;ENSP00000346516:K2575R	ENSP00000346516:K2575R	K	+	2	0	MLL	117879664	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	AAA		PASS	0.468	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		14	33	14	33	---	---	---	---
FEZ1	9638	broad.mit.edu	37	11	125359548	125359548	+	Silent	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:125359548G>T	ENST00000278919.3	-	2	360	c.126C>A	c.(124-126)tcC>tcA	p.S42S	FEZ1_ENST00000524435.1_Silent_p.S42S|FEZ1_ENST00000366139.3_Silent_p.S42S	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	42					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.S42S(1)|p.L43I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GCTCGGAGAGGGAGGGGTCCT	0.502																																					Melanoma(180;509 2033 10762 15939 24711)	uc001qbx.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(124-126)TCC>TCA		zygin 1 isoform 1							66.0	72.0	70.0					11																	125359548		2201	4299	6500	SO:0001819	synonymous_variant	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359548G>T	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.126C>A	11.37:g.125359548G>T						FEZ1_uc010sbc.1_Silent_p.S42S|FEZ1_uc001qby.1_Silent_p.S42S	p.S42S	NM_005103	NP_005094	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	278	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	42					O00679|O00728|Q6IBI7	Silent	SNP	ENST00000278919.3	37	c.126C>A	CCDS31716.1																																																																																				PASS	0.502	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		19	93	19	93	---	---	---	---
B3GAT1	27087	broad.mit.edu	37	11	134254047	134254047	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:134254047C>T	ENST00000524765.1	-	3	4692	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000537389.1_Missense_Mutation_p.G63S|B3GAT1_ENST00000312527.4_Missense_Mutation_p.G50S|B3GAT1_ENST00000392580.1_Missense_Mutation_p.G50S			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	50					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.G50S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGGTCGGCGCCGGGCGGCGTT	0.701																																						uc001qhq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(148-150)GGC>AGC		beta-1,3-glucuronyltransferase 1							27.0	20.0	22.0					11																	134254047		2172	4234	6406	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134254047C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.148G>A	11.37:g.134254047C>T	ENSP00000433847:p.Gly50Ser					B3GAT1_uc001qhr.2_Missense_Mutation_p.G50S|B3GAT1_uc010scv.1_Missense_Mutation_p.G63S	p.G50S	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	4	409	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	50			Lumenal (Potential).		Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.148G>A	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276680	0.23307	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.61859	0.08;0.08;0.08;0.07	4.7	3.55	0.40652	.	0.748339	0.12720	N	0.444815	T	0.42765	0.1217	L	0.34521	1.04	0.30541	N	0.76644	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.26815	-1.0092	10	0.05833	T	0.94	-33.6823	13.6939	0.62564	0.0:0.9098:0.0:0.0902	.	63;50	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	S	50;50;50;63	ENSP00000376359:G50S;ENSP00000307875:G50S;ENSP00000433847:G50S;ENSP00000445983:G63S	ENSP00000307875:G50S	G	-	1	0	B3GAT1	133759257	0.807000	0.29009	0.226000	0.23910	0.006000	0.05464	2.047000	0.41269	2.157000	0.67596	0.491000	0.48974	GGC		PASS	0.701	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		8	21	8	21	---	---	---	---
ERC1	23085	broad.mit.edu	37	12	1137166	1137166	+	Missense_Mutation	SNP	C	C	T	rs571730696		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:1137166C>T	ENST00000397203.2	+	2	503	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	ERC1_ENST00000589028.1_Missense_Mutation_p.R33C|ERC1_ENST00000360905.4_Missense_Mutation_p.R33C|ERC1_ENST00000543086.3_Missense_Mutation_p.R33C|ERC1_ENST00000355446.5_Missense_Mutation_p.R33C|ERC1_ENST00000546231.2_Missense_Mutation_p.R33C			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	33					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.R33C(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CTTGGGTCACCGTCGAACCAA	0.552																																						uc001qjb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(97-99)CGT>TGT		RAB6-interacting protein 2 isoform epsilon							93.0	92.0	93.0					12																	1137166		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1137166C>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.97C>T	12.37:g.1137166C>T	ENSP00000380386:p.Arg33Cys					ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.R33C|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.R33C	p.R33C	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		2	338	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		33					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.97C>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689751	0.68271	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	D;D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.92014	0.7470	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.83275	0.996;0.996;0.854	D	0.92793	0.6250	10	0.87932	D	0	-10.1027	19.6214	0.95658	0.0:1.0:0.0:0.0	.	33;33;33	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	C	33	ENSP00000340054:R33C;ENSP00000380386:R33C;ENSP00000438546:R33C;ENSP00000445336:R33C;ENSP00000442976:R33C;ENSP00000442739:R33C;ENSP00000347621:R33C;ENSP00000354158:R33C;ENSP00000410064:R33C	ENSP00000299183:R33C	R	+	1	0	ERC1	1007427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.993000	0.70616	2.644000	0.89710	0.655000	0.94253	CGT		PASS	0.552	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		33	123	33	123	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	2027512	2027512	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:2027512G>T	ENST00000382722.5	-	1	490	c.128C>A	c.(127-129)gCc>gAc	p.A43D	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A43D|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A43D|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A43D|RP5-1096D14.3_ENST00000544163.1_RNA	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	43					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A43D(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AAAGGCCCAGGCCACGGGCAT	0.652																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(127-129)GCC>GAC		voltage-gated calcium channel alpha(2)delta-4							19.0	23.0	22.0					12																	2027512		1901	4126	6027	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2027512G>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.128C>A	12.37:g.2027512G>T	ENSP00000372169:p.Ala43Asp					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A43D	p.A43D	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	1	359	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	43			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.128C>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029333	0.35797	.	.	ENSG00000151062	ENST00000280663;ENST00000382722	T	0.08102	3.13	5.09	1.04	0.20106	.	0.677358	0.13633	N	0.373534	T	0.06416	0.0165	L	0.29908	0.895	0.09310	N	1	B;B	0.30281	0.275;0.18	B;B	0.32533	0.147;0.052	T	0.35325	-0.9793	10	0.72032	D	0.01	.	4.8827	0.13688	0.2647:0.1558:0.5795:0.0	.	43;43	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	D	43	ENSP00000372169:A43D	ENSP00000280663:A43D	A	-	2	0	CACNA2D4	1897773	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.039000	0.13884	-0.072000	0.12864	0.555000	0.69702	GCC		PASS	0.652	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			10	11	10	11	---	---	---	---
CD27	939	broad.mit.edu	37	12	6560174	6560174	+	Nonsense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:6560174A>T	ENST00000266557.3	+	5	881	c.652A>T	c.(652-654)Aga>Tga	p.R218*	TAPBPL_ENST00000266556.7_5'Flank|TAPBPL_ENST00000544021.1_5'Flank|CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	218					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)	p.R218*(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						AAGGAAATATAGATCAAGTAA	0.542																																						uc001qod.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(652-654)AGA>TGA		tumor necrosis factor receptor superfamily,							146.0	148.0	147.0					12																	6560174		2203	4300	6503	SO:0001587	stop_gained	939				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	g.chr12:6560174A>T	M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.652A>T	12.37:g.6560174A>T	ENSP00000266557:p.Arg218*					LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_RNA|CD27_uc001qoe.2_Nonsense_Mutation_p.R68*|LOC678655_uc009zem.1_Intron|LOC678655_uc001qof.2_Intron|TAPBPL_uc001qog.3_5'Flank|TAPBPL_uc001qoh.3_5'Flank|TAPBPL_uc001qoi.1_5'Flank	p.R218*	NM_001242	NP_001233	P26842	CD27_HUMAN			5	863	+			218			Cytoplasmic (Potential).		B2RDZ0	Nonsense_Mutation	SNP	ENST00000266557.3	37	c.652A>T	CCDS8545.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.380434	0.82682	.	.	ENSG00000139193	ENST00000266557	.	.	.	3.83	-2.2	0.06994	.	2.765080	0.00832	N	0.001672	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	0.0	4.2956	0.10899	0.358:0.3665:0.2754:0.0	.	.	.	.	X	218	.	ENSP00000266557:R218X	R	+	1	2	CD27	6430435	0.000000	0.05858	0.008000	0.14137	0.533000	0.34776	-0.443000	0.06862	-0.274000	0.09232	-0.375000	0.07067	AGA		PASS	0.542	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1			9	144	9	144	---	---	---	---
PLCZ1	89869	broad.mit.edu	37	12	18854646	18854646	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:18854646C>A	ENST00000538330.1	-	5	533	c.152G>T	c.(151-153)aGa>aTa	p.R51I	PLCZ1_ENST00000541695.1_Missense_Mutation_p.R173I|PLCZ1_ENST00000266505.7_Missense_Mutation_p.R310I|PLCZ1_ENST00000435379.1_Missense_Mutation_p.R115I|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R117I|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.R308I					phospholipase C, zeta 1									p.R310K(1)|p.R310I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AGAACCTTTTCTTTCATGGGT	0.408																																						uc010sid.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(1)|lung(1)|skin(1)	3						c.(928-930)AGA>ATA		phospholipase C, zeta 1							99.0	93.0	95.0					12																	18854646		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18854646C>A	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.152G>T	12.37:g.18854646C>A	ENSP00000445880:p.Arg51Ile					PLCZ1_uc001rdv.3_Missense_Mutation_p.R206I|PLCZ1_uc001rdw.3_Missense_Mutation_p.R51I|PLCZ1_uc001rdu.1_Missense_Mutation_p.R51I|PLCZ1_uc009zil.1_RNA	p.R310I	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			8	1120	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		310						Missense_Mutation	SNP	ENST00000538330.1	37	c.929G>T		.	.	.	.	.	.	.	.	.	.	C	18.54	3.645509	0.67358	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242;ENST00000539072	T;T;T;T;T;T;T;T;T	0.62788	3.03;0.7;0.7;0.0;0.7;0.0;0.0;0.7;0.0	5.35	5.35	0.76521	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.282470	0.36338	N	0.002660	T	0.73621	0.3610	L	0.57536	1.79	0.38483	D	0.947775	D;D	0.76494	0.988;0.999	P;D	0.66196	0.797;0.942	T	0.73864	-0.3848	10	0.38643	T	0.18	.	14.9259	0.70878	0.0:1.0:0.0:0.0	.	310;51	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	I	51;310;308;115;173;117;45;51;137	ENSP00000445880:R51I;ENSP00000266505:R310I;ENSP00000402358:R308I;ENSP00000400504:R115I;ENSP00000443349:R173I;ENSP00000445026:R117I;ENSP00000445889:R45I;ENSP00000443762:R51I;ENSP00000438629:R137I	ENSP00000266505:R310I	R	-	2	0	PLCZ1	18745913	0.777000	0.28628	0.136000	0.22124	0.017000	0.09413	2.948000	0.49066	2.668000	0.90789	0.655000	0.94253	AGA		PASS	0.408	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		10	19	10	19	---	---	---	---
GYS2	2998	broad.mit.edu	37	12	21711179	21711179	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:21711179G>A	ENST00000261195.2	-	11	1631	c.1377C>T	c.(1375-1377)acC>acT	p.T459T		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	459					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.T459T(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCGTCTAATGGTGCTGAGGA	0.428																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(1375-1377)ACC>ACT		glycogen synthase 2							174.0	145.0	155.0					12																	21711179		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21711179G>A		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1377C>T	12.37:g.21711179G>A							p.T459T	NM_021957	NP_068776	P54840	GYS2_HUMAN			11	1632	-			459					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.1377C>T	CCDS8690.1																																																																																				PASS	0.428	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		16	76	16	76	---	---	---	---
ETNK1	55500	broad.mit.edu	37	12	22812020	22812020	+	Silent	SNP	T	T	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:22812020T>G	ENST00000266517.4	+	3	845	c.756T>G	c.(754-756)ctT>ctG	p.L252L		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	252					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.L252L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AATCTAATCTTTGGCTAAAGA	0.338																																					Esophageal Squamous(42;87 913 3224 6226 43339)	uc001rft.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(754-756)CTT>CTG		ethanolamine kinase 1 isoform A							92.0	89.0	90.0					12																	22812020		2203	4300	6503	SO:0001819	synonymous_variant	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22812020T>G	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.756T>G	12.37:g.22812020T>G						ETNK1_uc009ziz.2_Silent_p.L252L	p.L252L	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN			3	778	+			252	RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111).				G5E969	Silent	SNP	ENST00000266517.4	37	c.756T>G	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	T	9.503	1.103843	0.20632	.	.	ENSG00000139163	ENST00000538218;ENST00000541247	.	.	.	5.23	-9.81	0.00487	.	.	.	.	.	T	0.42040	0.1185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47971	-0.9075	4	.	.	.	-9.2052	5.0343	0.14426	0.4459:0.0:0.2435:0.3106	.	.	.	.	C	243;132	.	.	F	+	2	0	ETNK1	22703287	0.008000	0.16893	0.545000	0.28153	0.985000	0.73830	-1.326000	0.02685	-1.962000	0.01014	-0.932000	0.02703	TTT		PASS	0.338	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		16	69	16	69	---	---	---	---
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	rs17851045		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:25380275T>A	ENST00000256078.4	-	3	246	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	Q61H(T3M4_PANCREAS)|Q61H(HS766T_PANCREAS)|Q61H(NCIH460_LUNG)|Q61H(NCIH1155_LUNG)|Q61H(CL11_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		153	Substitution - Missense(153)	p.Q61H(140)|p.Q61L(51)|p.Q61R(44)|p.Q61K(24)|p.Q61P(11)|p.Q61E(10)|p.Q61D(1)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(181-183)CAA>CAT		c-K-ras2 protein isoform a precursor							109.0	98.0	102.0					12																	25380275		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380275T>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>T	12.37:g.25380275T>A	ENSP00000256078:p.Gln61His	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.Q61H	p.Q61H	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	364	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> R (in a colorectal cancer sample; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.183A>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243092	0.79912	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	rs17851045	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA		PASS	0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		31	44	31	44	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39735383	39735383	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:39735383C>A	ENST00000361418.5	-	14	1860	c.1845G>T	c.(1843-1845)gaG>gaT	p.E615D	KIF21A_ENST00000544797.2_Missense_Mutation_p.E602D|KIF21A_ENST00000395670.3_Missense_Mutation_p.E615D|KIF21A_ENST00000541463.2_Missense_Mutation_p.E602D|KIF21A_ENST00000361961.3_Missense_Mutation_p.E602D			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																						uc001rly.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|kidney(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(1843-1845)GAG>GAT		kinesin family member 21A							85.0	82.0	83.0					12																	39735383		2203	4299	6502	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735383C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1845G>T	12.37:g.39735383C>A	ENSP00000354878:p.Glu615Asp					KIF21A_uc001rlw.2_5'Flank|KIF21A_uc001rlx.2_Missense_Mutation_p.E602D|KIF21A_uc001rlz.2_Missense_Mutation_p.E602D|KIF21A_uc010skl.1_Missense_Mutation_p.E602D	p.E615D	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			14	1991	-		Lung NSC(34;0.179)|all_lung(34;0.213)	615					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.1845G>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653999	0.47362	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.38	-6.47	0.01902	.	0.688041	0.12149	N	0.495079	T	0.37892	0.1020	N	0.25094	0.71	0.34802	D	0.736785	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.02917	-1.1094	10	0.38643	T	0.18	.	6.5287	0.22314	0.1841:0.355:0.0:0.461	.	602;602;615;602	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;KI21A_HUMAN;.	D	602;615;615;602;615;602	ENSP00000354851:E602D;ENSP00000379029:E615D;ENSP00000445606:E602D;ENSP00000354878:E615D;ENSP00000438075:E602D	ENSP00000344501:E615D	E	-	3	2	KIF21A	38021650	0.003000	0.15002	0.889000	0.34880	0.969000	0.65631	-1.623000	0.02040	-0.929000	0.03757	-0.150000	0.13652	GAG		PASS	0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		10	32	10	32	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40441918	40441918	+	Silent	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:40441918T>C	ENST00000280871.4	-	2	701	c.651A>G	c.(649-651)acA>acG	p.T217T	SLC2A13_ENST00000380858.1_Silent_p.T217T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	217					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.T198T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ACTGCCCTCCTGTGATGAAGA	0.408										HNSCC(50;0.14)																												uc010skm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(649-651)ACA>ACG		solute carrier family 2 (facilitated glucose							174.0	164.0	167.0					12																	40441918		2203	4300	6503	SO:0001819	synonymous_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40441918T>C	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.651A>G	12.37:g.40441918T>C		HNSCC(50;0.14)				SLC2A13_uc001rmf.2_Silent_p.T217T	p.T217T	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			2	702	-		Lung NSC(34;0.105)|all_lung(34;0.123)	217			Helical; Name=5; (Potential).		Q17S07	Silent	SNP	ENST00000280871.4	37	c.651A>G	CCDS8736.2																																																																																				PASS	0.408	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			42	154	42	154	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49431525	49431525	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:49431525C>A	ENST00000301067.7	-	34	9613	c.9614G>T	c.(9613-9615)gGa>gTa	p.G3205V	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3205					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G2935V(1)|p.G3205V(1)									GGAGGATCCTCCTGGGCCACT	0.602																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(9613-9615)GGA>GTA		myeloid/lymphoid or mixed-lineage leukemia 2							25.0	27.0	26.0					12																	49431525		1983	4153	6136	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49431525C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9614G>T	12.37:g.49431525C>A	ENSP00000301067:p.Gly3205Val	HNSCC(34;0.089)					p.G3205V	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	9614	-			3205					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.9614G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	4.547	0.101506	0.08731	.	.	ENSG00000167548	ENST00000301067	T	0.79454	-1.27	5.5	2.54	0.30619	.	0.485736	0.15397	N	0.264533	T	0.62183	0.2407	N	0.14661	0.345	0.42626	D	0.993364	B	0.14438	0.01	B	0.16722	0.016	T	0.55909	-0.8066	10	0.87932	D	0	.	10.2676	0.43464	0.1402:0.4268:0.433:0.0	.	3205	O14686	MLL2_HUMAN	V	3205	ENSP00000301067:G3205V	ENSP00000301067:G3205V	G	-	2	0	MLL2	47717792	0.015000	0.18098	0.997000	0.53966	0.776000	0.43924	0.620000	0.24403	0.331000	0.23511	-0.175000	0.13238	GGA		PASS	0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			3	5	3	5	---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50185658	50185658	+	Silent	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:50185658G>C	ENST00000335999.6	-	13	4170	c.3969C>G	c.(3967-3969)ctC>ctG	p.L1323L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1319								p.L1323L(1)|p.L914L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCGAGTCGTAGAGTGAGTCAC	0.677																																						uc009zlk.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(3967-3969)CTC>CTG		NCK-associated protein 5-like							18.0	23.0	21.0					12																	50185658		2005	4169	6174	SO:0001819	synonymous_variant	57701							g.chr12:50185658G>C	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3969C>G	12.37:g.50185658G>C						NCKAP5L_uc001rvc.3_Silent_p.L527L|NCKAP5L_uc001rvb.2_3'UTR	p.L1323L	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			13	4171	-			1319					Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.3969C>G	CCDS41781.2																																																																																				PASS	0.677	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		4	26	4	26	---	---	---	---
KRT71	112802	broad.mit.edu	37	12	52942093	52942093	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:52942093G>T	ENST00000267119.5	-	5	890	c.821C>A	c.(820-822)aCt>aAt	p.T274N		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	274	Coil 1B.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T274N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTGGATCTGAGTGATCTCCTG	0.532																																						uc001sao.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(820-822)ACT>AAT		keratin 71							141.0	117.0	125.0					12																	52942093		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52942093G>T	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.821C>A	12.37:g.52942093G>T	ENSP00000267119:p.Thr274Asn						p.T274N	NM_033448	NP_258259	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	5	891	-			274			Coil 1B.|Rod.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.821C>A	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370801	0.42003	.	.	ENSG00000139648	ENST00000267119	T	0.74842	-0.88	4.3	4.3	0.51218	Filament (1);	0.479462	0.17121	N	0.186223	T	0.61578	0.2358	N	0.08118	0	0.25918	N	0.983145	B	0.26318	0.146	B	0.32928	0.155	T	0.60994	-0.7152	10	0.56958	D	0.05	.	17.6681	0.88209	0.0:0.0:1.0:0.0	.	274	Q3SY84	K2C71_HUMAN	N	274	ENSP00000267119:T274N	ENSP00000267119:T274N	T	-	2	0	KRT71	51228360	0.000000	0.05858	0.934000	0.37439	0.702000	0.40608	0.312000	0.19397	2.343000	0.79666	0.603000	0.83216	ACT		PASS	0.532	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		31	54	31	54	---	---	---	---
STAT6	6778	broad.mit.edu	37	12	57492632	57492632	+	Missense_Mutation	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:57492632T>C	ENST00000300134.3	-	18	2334	c.2009A>G	c.(2008-2010)tAt>tGt	p.Y670C	STAT6_ENST00000454075.3_Missense_Mutation_p.Y670C|STAT6_ENST00000543873.2_Missense_Mutation_p.Y670C|STAT6_ENST00000537215.2_Missense_Mutation_p.Y560C|STAT6_ENST00000538913.2_Missense_Mutation_p.Y560C|STAT6_ENST00000556155.1_Missense_Mutation_p.Y670C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	670					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Y670C(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCCAAGGTCATAAGAAGGCAC	0.542																																						uc009zpe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2008-2010)TAT>TGT		signal transducer and activator of transcription							175.0	179.0	177.0					12																	57492632		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57492632T>C	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2009A>G	12.37:g.57492632T>C	ENSP00000300134:p.Tyr670Cys					STAT6_uc009zpf.2_Missense_Mutation_p.Y670C|STAT6_uc001sna.2_Missense_Mutation_p.Y670C|STAT6_uc010srb.1_Missense_Mutation_p.Y560C|STAT6_uc010src.1_Missense_Mutation_p.Y560C|STAT6_uc010srd.1_Missense_Mutation_p.Y560C|STAT6_uc009zpg.2_Missense_Mutation_p.Y719C	p.Y670C	NM_003153	NP_003144	P42226	STAT6_HUMAN			18	2260	-			670					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.2009A>G	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021921	0.75275	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;T	0.92099	-2.73;-2.97;-2.73;-2.73;-2.97;-2.73;-1.21	5.91	5.91	0.95273	.	0.252487	0.32273	N	0.006337	D	0.92224	0.7534	N	0.24115	0.695	0.40685	D	0.982349	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.92276	0.5829	10	0.41790	T	0.15	-8.4081	12.7354	0.57220	0.0:0.0:0.0:1.0	.	670;670	A8K4S9;P42226	.;STAT6_HUMAN	C	670;560;560;670;670;560;670;560;98;670	ENSP00000300134:Y670C;ENSP00000445409:Y560C;ENSP00000438451:Y670C;ENSP00000451742:Y670C;ENSP00000444530:Y560C;ENSP00000401486:Y670C;ENSP00000450428:Y98C	ENSP00000300134:Y670C	Y	-	2	0	STAT6	55778899	0.984000	0.35163	0.995000	0.50966	0.980000	0.70556	2.393000	0.44442	2.269000	0.75478	0.533000	0.62120	TAT		PASS	0.542	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		43	154	43	154	---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67706425	67706425	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:67706425G>A	ENST00000545606.1	+	15	3945	c.3508G>A	c.(3508-3510)Gat>Aat	p.D1170N		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1170					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.D1170N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGAAAAACAAGATGAATTAAA	0.398																																						uc001stn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3508-3510)GAT>AAT		TIP120 protein							72.0	63.0	66.0					12																	67706425		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67706425G>A		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3508G>A	12.37:g.67706425G>A	ENSP00000442318:p.Asp1170Asn					CAND1_uc001sto.2_Missense_Mutation_p.D680N	p.D1170N	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	15	3945	+			1170			HEAT 27.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.3508G>A	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888270	0.72524	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.64618	-0.11;-0.11	5.62	5.62	0.85841	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	L	0.39326	1.205	0.80722	D	1	P;D	0.67145	0.627;0.996	B;D	0.68353	0.319;0.957	T	0.68899	-0.5287	9	.	.	.	-14.964	19.6558	0.95837	0.0:0.0:1.0:0.0	.	1002;1170	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	N	1170;1170;710	ENSP00000442318:D1170N;ENSP00000444089:D710N	.	D	+	1	0	CAND1	65992692	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.830000	0.99415	2.647000	0.89833	0.585000	0.79938	GAT		PASS	0.398	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		14	17	14	17	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78225481	78225481	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:78225481C>G	ENST00000397909.2	+	1	413	c.240C>G	c.(238-240)agC>agG	p.S80R	NAV3_ENST00000266692.7_Missense_Mutation_p.S80R|NAV3_ENST00000536525.2_Missense_Mutation_p.S80R|NAV3_ENST00000228327.6_Missense_Mutation_p.S80R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	80	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S80R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAAGACAGCAAGGTTAGTT	0.413										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(238-240)AGC>AGG		neuron navigator 3							61.0	57.0	58.0					12																	78225481		1873	4111	5984	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78225481C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.240C>G	12.37:g.78225481C>G	ENSP00000381007:p.Ser80Arg	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S80R	p.S80R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			1	413	+			80			CH.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.240C>G		.	.	.	.	.	.	.	.	.	.	C	16.36	3.101389	0.56183	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.25	3.28	0.37604	Calponin homology domain (4);	15.647800	0.02051	U	0.050060	T	0.58793	0.2147	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.991	T	0.56318	-0.7999	10	0.18276	T	0.48	-1.9813	9.8288	0.40928	0.0:0.8152:0.0:0.1848	.	80;80	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	R	80	ENSP00000446628:S80R;ENSP00000446132:S80R;ENSP00000381007:S80R;ENSP00000228327:S80R;ENSP00000266692:S80R	ENSP00000228327:S80R	S	+	3	2	NAV3	76749612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.034000	0.30204	0.610000	0.30035	0.655000	0.94253	AGC		PASS	0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		16	21	16	21	---	---	---	---
CCER1	196477	broad.mit.edu	37	12	91348137	91348137	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:91348137G>C	ENST00000358859.2	-	1	816	c.383C>G	c.(382-384)tCc>tGc	p.S128C	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	128								p.S128C(1)									AGGGTTCCAGGACCCGCTCCA	0.677																																						uc001tbj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(382-384)TCC>TGC		hypothetical protein LOC196477							16.0	20.0	18.0					12																	91348137		2202	4293	6495	SO:0001583	missense	196477							g.chr12:91348137G>C	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.383C>G	12.37:g.91348137G>C	ENSP00000351727:p.Ser128Cys						p.S128C	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	817	-			128					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.383C>G	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177751	0.38413	.	.	ENSG00000197651	ENST00000358859	T	0.33654	1.4	4.62	4.62	0.57501	.	0.507607	0.14860	N	0.294154	T	0.34308	0.0893	N	0.14661	0.345	0.09310	N	1	D	0.61697	0.99	P	0.53313	0.723	T	0.17806	-1.0357	10	0.72032	D	0.01	-4.3917	12.8342	0.57763	0.0:0.0:1.0:0.0	.	128	Q8TC90	CL012_HUMAN	C	128	ENSP00000351727:S128C	ENSP00000351727:S128C	S	-	2	0	C12orf12	89872268	0.672000	0.27530	0.363000	0.25875	0.066000	0.16364	1.466000	0.35310	2.376000	0.81061	0.462000	0.41574	TCC		PASS	0.677	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		3	33	3	33	---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109834222	109834222	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:109834222G>T	ENST00000431443.2	+	3	276	c.276G>T	c.(274-276)atG>atT	p.M92I	MYO1H_ENST00000310903.5_Missense_Mutation_p.M92I	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	92	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.M92I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ACCGAATGATGTGTGCTGAAC	0.463																																						uc010sxn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)ATG>ATT		myosin 1H							67.0	67.0	67.0					12																	109834222		2019	4195	6214	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109834222G>T		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.276G>T	12.37:g.109834222G>T	ENSP00000444076:p.Met92Ile						p.M92I	NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN			3	276	+			Error:Variant_position_missing_in_B4DNW6_after_alignment					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.276G>T		.	.	.	.	.	.	.	.	.	.	G	26.6	4.748822	0.89753	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.89343	-2.5;-2.5	4.8	4.8	0.61643	.	.	.	.	.	D	0.91321	0.7263	M	0.89095	3.005	0.52501	D	0.99995	P	0.48089	0.905	B	0.42343	0.384	D	0.93537	0.6874	9	0.87932	D	0	.	17.7816	0.88526	0.0:0.0:1.0:0.0	.	92	F5H3C6	.	I	92	ENSP00000439182:M92I;ENSP00000444076:M92I	ENSP00000439182:M92I	M	+	3	0	MYO1H	108318605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.750000	0.98875	2.615000	0.88500	0.644000	0.83932	ATG		PASS	0.463	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		11	41	11	41	---	---	---	---
MVK	4598	broad.mit.edu	37	12	110019347	110019347	+	Silent	SNP	C	C	T	rs554487221|rs104895310		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:110019347C>T	ENST00000228510.3	+	5	595	c.519C>T	c.(517-519)tgC>tgT	p.C173C	MVK_ENST00000539575.1_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000535044.1_Intron|MVK_ENST00000392727.3_Intron|MVK_ENST00000541384.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	173					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)	p.C173C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						ACGGGGATTGCGTCAACAGGT	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		19904	0.0		0.0	False		,,,				2504	0.001					uc001toy.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(517-519)TGC>TGT		mevalonate kinase							84.0	81.0	82.0					12																	110019347		2203	4300	6503	SO:0001819	synonymous_variant	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110019347C>T	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.519C>T	12.37:g.110019347C>T						MVK_uc009zvk.2_Silent_p.C173C|MVK_uc010sxr.1_Intron|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_RNA	p.C173C	NM_001114185	NP_001107657	Q03426	KIME_HUMAN			5	703	+			173						Silent	SNP	ENST00000228510.3	37	c.519C>T	CCDS9132.1																																																																																				PASS	0.642	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		8	39	8	39	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119583443	119583443	+	Silent	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:119583443G>C	ENST00000267260.4	+	9	1417	c.1029G>C	c.(1027-1029)ggG>ggC	p.G343G		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	343	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.G343G(2)|p.G440G(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAACAAGGGGGCCATGTTGG	0.617																																						uc001txa.1																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(1027-1029)GGG>GGC		KIAA1853 protein							25.0	30.0	29.0					12																	119583443		2014	4186	6200	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583443G>C	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1029G>C	12.37:g.119583443G>C							p.G343G	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			9	1321	+			343			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.1029G>C	CCDS44994.1																																																																																				PASS	0.617	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		6	16	6	16	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130845880	130845880	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr12:130845880G>T	ENST00000245255.3	+	15	2093	c.1821G>T	c.(1819-1821)caG>caT	p.Q607H		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	607	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.Q607H(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGCCCTACAGATGAACTGCA	0.473																																						uc001uik.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1819-1821)CAG>CAT		piwi-like 1							128.0	123.0	125.0					12																	130845880		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130845880G>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1821G>T	12.37:g.130845880G>T	ENSP00000245255:p.Gln607His					PIWIL1_uc001uij.1_Missense_Mutation_p.Q607H	p.Q607H	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	15	1911	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		607			RNA-binding (By similarity).|Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1821G>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604179	0.66445	.	.	ENSG00000125207	ENST00000245255	T	0.36878	1.23	5.73	4.84	0.62591	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.81095	-0.1088	10	0.87932	D	0	-24.961	11.8842	0.52592	0.1447:0.0:0.8553:0.0	.	607;607	Q96J94;Q96J94-2	PIWL1_HUMAN;.	H	607	ENSP00000245255:Q607H	ENSP00000245255:Q607H	Q	+	3	2	PIWIL1	129411833	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.210000	0.51129	1.431000	0.47355	-0.140000	0.14226	CAG		PASS	0.473	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			40	59	40	59	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23905162	23905162	+	Missense_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr13:23905162T>A	ENST00000382292.3	-	9	13126	c.12853A>T	c.(12853-12855)Agc>Tgc	p.S4285C	SACS_ENST00000402364.1_Missense_Mutation_p.S3535C|SACS_ENST00000382298.3_Missense_Mutation_p.S4285C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4285					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S4138C(1)|p.S4285C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTCTTGTGGCTCTCTCTACCA	0.478																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(12853-12855)AGC>TGC		sacsin							75.0	86.0	83.0					13																	23905162		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905162T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12853A>T	13.37:g.23905162T>A	ENSP00000371729:p.Ser4285Cys					SACS_uc001uoo.2_Missense_Mutation_p.S4138C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S4285C	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13442	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4285					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12853A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	13.52	2.263002	0.39995	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88431	-2.24;-2.38;-2.24	5.65	1.95	0.26073	.	0.159187	0.64402	D	0.000001	T	0.75421	0.3847	N	0.08118	0	0.28407	N	0.918343	P	0.44344	0.833	B	0.39185	0.293	T	0.71041	-0.4707	10	0.62326	D	0.03	.	9.766	0.40561	0.0:0.1781:0.0:0.8219	.	4285	Q9NZJ4	SACS_HUMAN	C	4285;3535;4285	ENSP00000371729:S4285C;ENSP00000385844:S3535C;ENSP00000371735:S4285C	ENSP00000371729:S4285C	S	-	1	0	SACS	22803162	0.993000	0.37304	0.987000	0.45799	0.709000	0.40893	1.185000	0.32065	0.108000	0.17862	0.460000	0.39030	AGC		PASS	0.478	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		24	76	24	76	---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42874720	42874720	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr13:42874720G>T	ENST00000025301.2	+	8	2013	c.1838G>T	c.(1837-1839)aGt>aTt	p.S613I		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	613					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.S613I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CGTGCCATTAGTGGCCTGGCT	0.388																																						uc001uys.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1837-1839)AGT>ATT		A-kinase anchor protein 11							80.0	76.0	77.0					13																	42874720		2202	4300	6502	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42874720G>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1838G>T	13.37:g.42874720G>T	ENSP00000025301:p.Ser613Ile						p.S613I	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	2013	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	613					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.1838G>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386433	0.61956	.	.	ENSG00000023516	ENST00000025301	T	0.15372	2.43	5.94	5.09	0.68999	.	0.291697	0.36034	N	0.002835	T	0.24812	0.0602	L	0.54323	1.7	0.29751	N	0.836333	D	0.56035	0.974	P	0.54312	0.748	T	0.19778	-1.0295	10	0.72032	D	0.01	.	5.7148	0.17954	0.2543:0.0:0.7457:0.0	.	613	Q9UKA4	AKA11_HUMAN	I	613	ENSP00000025301:S613I	ENSP00000025301:S613I	S	+	2	0	AKAP11	41772720	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	4.105000	0.57797	2.821000	0.97095	0.484000	0.47621	AGT		PASS	0.388	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		12	54	12	54	---	---	---	---
CYSLTR2	57105	broad.mit.edu	37	13	49281661	49281661	+	Silent	SNP	G	G	T	rs200656296		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr13:49281661G>T	ENST00000282018.3	+	1	711	c.708G>T	c.(706-708)tcG>tcT	p.S236S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	236					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)	p.S236S(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TCCCAGAATCGGGGCTGCGGG	0.507																																						uc010acx.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(706-708)TCG>TCT		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						94.0	94.0	94.0					13																	49281661		2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281661G>T	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.708G>T	13.37:g.49281661G>T						CYSLTR2_uc010acy.1_Silent_p.S236S|CYSLTR2_uc010acz.1_Silent_p.S236S|CYSLTR2_uc010ada.1_Silent_p.S236S|CYSLTR2_uc010adb.1_Silent_p.S236S|CYSLTR2_uc010adc.1_Silent_p.S236S|CYSLTR2_uc010add.1_Silent_p.S236S|CYSLTR2_uc010acw.1_Silent_p.S236S|CYSLTR2_uc001vck.2_Silent_p.S236S	p.S236S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	1391	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	236			Cytoplasmic (Potential).		Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.708G>T	CCDS9412.1																																																																																				PASS	0.507	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			31	79	31	79	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70314552	70314552	+	Silent	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr13:70314552T>A	ENST00000377844.4	-	8	2535	c.1776A>T	c.(1774-1776)acA>acT	p.T592T	KLHL1_ENST00000545028.1_Silent_p.T399T	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	592					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.T592T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTACACCAACTGTGCTCCGAG	0.358																																						uc001vip.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1774-1776)ACA>ACT		kelch-like 1 protein							89.0	78.0	81.0					13																	70314552		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314552T>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1776A>T	13.37:g.70314552T>A						KLHL1_uc010thm.1_Silent_p.T531T	p.T592T	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2570	-		Breast(118;0.000162)	592			Kelch 3.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.1776A>T	CCDS9445.1																																																																																				PASS	0.358	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		11	32	11	32	---	---	---	---
SCEL	8796	broad.mit.edu	37	13	78208526	78208526	+	Silent	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr13:78208526A>T	ENST00000349847.3	+	29	1788	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G	SCEL_ENST00000535157.1_Silent_p.G526G|SCEL_ENST00000377246.3_Silent_p.G548G	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	568					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.G568G(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CTAACACTGGAGCCAAGCAGG	0.313																																						uc001vki.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(1)	5						c.(1702-1704)GGA>GGT		sciellin isoform 1							74.0	77.0	76.0					13																	78208526		2203	4300	6503	SO:0001819	synonymous_variant	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78208526A>T	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1704A>T	13.37:g.78208526A>T						SCEL_uc001vkj.2_Silent_p.G548G|SCEL_uc010thx.1_Silent_p.G526G	p.G568G	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	29	1874	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	568					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP	ENST00000349847.3	37	c.1704A>T	CCDS9459.1																																																																																				PASS	0.313	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		7	23	7	23	---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50585439	50585439	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr14:50585439G>T	ENST00000216373.5	-	23	3896	c.3622C>A	c.(3622-3624)Cca>Aca	p.P1208T	VCPKMT_ENST00000395859.2_5'Flank|VCPKMT_ENST00000395860.2_5'Flank|SOS2_ENST00000543680.1_Missense_Mutation_p.P1175T	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1208	Poly-Pro.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1208T(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGATCTCTTGGTGGTGGCGGA	0.527																																						uc001wxs.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3622-3624)CCA>ACA		son of sevenless homolog 2							110.0	116.0	114.0					14																	50585439		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50585439G>T	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3622C>A	14.37:g.50585439G>T	ENSP00000216373:p.Pro1208Thr					SOS2_uc010ans.2_Missense_Mutation_p.P43T|SOS2_uc010tql.1_Missense_Mutation_p.P1175T|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank	p.P1208T	NM_006939	NP_008870	Q07890	SOS2_HUMAN			23	3720	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1208			Poly-Pro.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3622C>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286931	0.59867	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.79845	-1.31;-1.22	5.13	5.13	0.70059	.	0.108524	0.64402	D	0.000004	D	0.88742	0.6519	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.88435	0.3038	10	0.45353	T	0.12	.	18.583	0.91178	0.0:0.0:1.0:0.0	.	1175;1208	B7ZKT6;Q07890	.;SOS2_HUMAN	T	1208;1175	ENSP00000216373:P1208T;ENSP00000445328:P1175T	ENSP00000216373:P1208T	P	-	1	0	SOS2	49655189	1.000000	0.71417	0.966000	0.40874	0.995000	0.86356	8.560000	0.90712	2.363000	0.80096	0.563000	0.77884	CCA		PASS	0.527	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			28	155	28	155	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51190286	51190286	+	IGR	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr14:51190286T>A	ENST00000382041.3	-	0	6496				NIN_ENST00000530997.2_Silent_p.A2099A|NIN_ENST00000389868.3_3'UTR|RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000245441.5_Silent_p.A2099A	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.A2099A(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTTTCTTCTCTGCTGTTTTCT	0.453			T	PDGFRB	MPD																																	uc001wyi.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(6295-6297)GCA>GCT		ninein isoform 2							156.0	149.0	151.0					14																	51190286		1871	4095	5966	SO:0001628	intergenic_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51190286T>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569		14.37:g.51190286T>A						NIN_uc001wyj.2_RNA	p.A2099A	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN			31	6488	-	all_epithelial(31;0.00244)|Breast(41;0.127)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.6297A>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454251	0.26161	.	.	ENSG00000100503	ENST00000530997	.	.	.	5.92	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.5585	8.6698	0.34143	0.1208:0.0:0.3764:0.5028	.	.	.	.	X	1590	.	.	R	-	1	2	NIN	50260036	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.313000	0.19415	0.465000	0.27167	-0.291000	0.09656	AGA		PASS	0.453	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		11	89	11	89	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60069953	60069953	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr14:60069953G>A	ENST00000267484.5	-	7	2541	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.P168S|RTN1_ENST00000395090.1_Missense_Mutation_p.P153S	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	736	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.P736S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TACACTACAGGTAGAGTAAAC	0.303																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2206-2208)CCT>TCT		reticulon 1 isoform A							61.0	59.0	60.0					14																	60069953		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60069953G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2206C>T	14.37:g.60069953G>A	ENSP00000267484:p.Pro736Ser					RTN1_uc001xem.1_Missense_Mutation_p.P316S|RTN1_uc001xek.1_Missense_Mutation_p.P168S|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.P153S	p.P736S	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	7	2415	-			736			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.2206C>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187437	0.94923	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.77358	-1.09;-1.09;-1.09	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92215	0.7531	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93022	0.6441	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	153;736;168	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	S	316;736;153;168;662	ENSP00000267484:P736S;ENSP00000378525:P153S;ENSP00000340716:P168S	ENSP00000267484:P736S	P	-	1	0	RTN1	59139706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCT		PASS	0.303	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			7	44	7	44	---	---	---	---
SIX4	51804	broad.mit.edu	37	14	61180336	61180336	+	Missense_Mutation	SNP	C	C	A	rs112624131	byFrequency	TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr14:61180336C>A	ENST00000216513.4	-	3	2194	c.2135G>T	c.(2134-2136)cGt>cTt	p.R712L		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	712					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R712L(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CAGAACCAAACGATGTTCTTG	0.443																																						uc001xfc.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(2134-2136)CGT>CTT		sine oculis homeobox homolog 4							99.0	96.0	97.0					14																	61180336		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61180336C>A	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.2135G>T	14.37:g.61180336C>A	ENSP00000216513:p.Arg712Leu						p.R712L	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	3	2135	-			712					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.2135G>T	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039626	0.35989	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.91295	-2.82;0.8	5.63	3.73	0.42828	.	0.409847	0.21022	N	0.081482	T	0.79240	0.4412	N	0.14661	0.345	0.80722	D	1	B	0.32893	0.389	B	0.25506	0.061	T	0.75825	-0.3181	10	0.87932	D	0	.	7.0186	0.24902	0.0:0.7034:0.1429:0.1537	.	712	Q9UIU6	SIX4_HUMAN	L	712;385	ENSP00000216513:R712L;ENSP00000451537:R385L	ENSP00000216513:R712L	R	-	2	0	SIX4	60250089	0.811000	0.29063	0.967000	0.41034	0.940000	0.58332	0.542000	0.23222	0.777000	0.33496	0.563000	0.77884	CGT		PASS	0.443	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			11	46	11	46	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69262628	69262628	+	5'Flank	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr14:69262628C>T	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000336440.3_5'Flank|ZFP36L1_ENST00000408913.2_Silent_p.E128E	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E128E(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCGACCCGCCCTCGCCCAGAC	0.751																																						uc001xkj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(382-384)GAG>GAA		hypothetical protein LOC400223							15.0	20.0	19.0					14																	69262628		2146	4157	6303	SO:0001631	upstream_gene_variant	400223							g.chr14:69262628C>T	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262628C>T	Exception_encountered					ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank	p.E128E	NM_207442	NP_997325				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)	1	563	-								Q13851	Silent	SNP	ENST00000439696.2	37	c.384G>A	CCDS9791.1																																																																																				PASS	0.751	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			3	26	3	26	---	---	---	---
SLC8A3	6547	broad.mit.edu	37	14	70517727	70517727	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr14:70517727G>T	ENST00000381269.2	-	6	2882	c.2129C>A	c.(2128-2130)gCa>gAa	p.A710E	SLC8A3_ENST00000528359.1_Missense_Mutation_p.A708E|SLC8A3_ENST00000533541.1_Missense_Mutation_p.A67E|SLC8A3_ENST00000216568.7_Missense_Mutation_p.A81E|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A708E|SLC8A3_ENST00000394330.2_Missense_Mutation_p.A67E|SLC8A3_ENST00000534137.1_Missense_Mutation_p.A707E|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A704E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	710					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.A708E(1)|p.A710E(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTCTCACCTGCACTGACGGT	0.562																																						uc001xly.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(2)	7						c.(2128-2130)GCA>GAA		solute carrier family 8 (sodium/calcium							104.0	78.0	87.0					14																	70517727		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70517727G>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2129C>A	14.37:g.70517727G>T	ENSP00000370669:p.Ala710Glu					SLC8A3_uc001xlu.2_Missense_Mutation_p.A67E|SLC8A3_uc001xlv.2_Missense_Mutation_p.A81E|SLC8A3_uc001xlw.2_Missense_Mutation_p.A707E|SLC8A3_uc001xlx.2_Missense_Mutation_p.A708E|SLC8A3_uc001xlz.2_Missense_Mutation_p.A704E|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.A67E	p.A710E	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	6	2883	-			710			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.2129C>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138458	0.94560	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359;ENST00000533541	T;T;T;T;T;T;T;T	0.71103	1.3;1.22;1.36;-0.53;-0.54;1.3;1.36;0.81	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	M	0.79343	2.45	0.80722	D	1	B;D;D;D;D;B	0.76494	0.215;0.999;0.999;0.993;0.993;0.178	B;D;D;D;D;B	0.83275	0.202;0.996;0.993;0.979;0.979;0.126	D	0.83631	0.0145	10	0.44086	T	0.13	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	67;704;710;708;707;81	F2Z391;P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;.;NAC3_HUMAN;.;.;.	E	704;710;708;81;67;707;708;67	ENSP00000349392:A704E;ENSP00000370669:A710E;ENSP00000350560:A708E;ENSP00000216568:A81E;ENSP00000377863:A67E;ENSP00000436688:A707E;ENSP00000433531:A708E;ENSP00000437103:A67E	ENSP00000216568:A81E	A	-	2	0	SLC8A3	69587480	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	GCA		PASS	0.562	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			7	44	7	44	---	---	---	---
FAM161B	145483	broad.mit.edu	37	14	74409390	74409390	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr14:74409390G>A	ENST00000534936.1	-	4	1059	c.954C>T	c.(952-954)atC>atT	p.I318I	FAM161B_ENST00000286544.3_Silent_p.I381I			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	318								p.I318I(1)|p.I381I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CTCTCATTTGGATGCGAATTT	0.547																																						uc001xpd.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(952-954)ATC>ATT		hypothetical protein LOC145483							63.0	68.0	66.0					14																	74409390		2203	4300	6503	SO:0001819	synonymous_variant	145483							g.chr14:74409390G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.954C>T	14.37:g.74409390G>A							p.I318I	NM_152445	NP_689658					4	1060	-								B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37	c.954C>T																																																																																					PASS	0.547	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		9	65	9	65	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75017963	75017963	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr14:75017963C>A	ENST00000261978.4	-	7	1876	c.1490G>T	c.(1489-1491)gGg>gTg	p.G497V	LTBP2_ENST00000557425.1_5'UTR|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.G497V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	497					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.G497V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCCTCCACCCCGCCCCGCAC	0.677																																						uc001xqa.2																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(1489-1491)GGG>GTG		latent transforming growth factor beta binding							18.0	19.0	19.0					14																	75017963		2200	4299	6499	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75017963C>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1490G>T	14.37:g.75017963C>A	ENSP00000261978:p.Gly497Val						p.G497V	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	7	1877	-			497					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.1490G>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	9.357	1.066989	0.20067	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.21031	2.03;2.03	4.46	3.33	0.38152	.	0.203899	0.24096	N	0.041588	T	0.10252	0.0251	N	0.14661	0.345	0.39651	D	0.970469	B	0.28128	0.201	B	0.23419	0.046	T	0.21143	-1.0254	10	0.18276	T	0.48	.	8.0047	0.30319	0.0:0.0953:0.0:0.9047	.	497	Q14767	LTBP2_HUMAN	V	497	ENSP00000261978:G497V;ENSP00000451477:G497V	ENSP00000261978:G497V	G	-	2	0	LTBP2	74087716	0.135000	0.22499	0.616000	0.29078	0.445000	0.32107	0.893000	0.28336	0.754000	0.32968	-0.391000	0.06502	GGG		PASS	0.677	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		10	24	10	24	---	---	---	---
DIO2	1734	broad.mit.edu	37	14	80677628	80677628	+	Missense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr14:80677628A>T	ENST00000557010.1	-	3	573	c.188T>A	c.(187-189)gTc>gAc	p.V63D	DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.V63D|DIO2_ENST00000422005.3_Missense_Mutation_p.V63D|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000555750.1_Missense_Mutation_p.V63D	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	63					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.V63D(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCTCTTCCAGACGCAGCGCAG	0.607																																						uc010tvq.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(187-189)GTC>GAC		deiodinase, iodothyronine, type II isoform a							44.0	46.0	45.0					14																	80677628		2079	4201	6280	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80677628A>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.188T>A	14.37:g.80677628A>T	ENSP00000451419:p.Val63Asp					uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Missense_Mutation_p.V63D|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Missense_Mutation_p.V63D|DIO2_uc010tvr.1_Missense_Mutation_p.V63D|DIO2_uc010asy.2_Missense_Mutation_p.V63D	p.V63D	NM_000793	NP_000784	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	2	590	-			63					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.188T>A	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.692945	0.88735	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750;ENST00000388838	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.7	5.7	0.88788	.	0.217330	0.27759	N	0.017961	T	0.67813	0.2933	M	0.77486	2.375	0.58432	D	0.999999	P;P;P;D	0.67145	0.741;0.781;0.912;0.996	P;P;P;P	0.62089	0.654;0.765;0.76;0.898	T	0.72643	-0.4231	10	0.87932	D	0	.	15.9692	0.79998	1.0:0.0:0.0:0.0	.	63;63;63;63	Q92813-2;Q92813;G3V315;A8K845	.;IOD2_HUMAN;.;.	D	63	ENSP00000405854:V63D;ENSP00000451419:V63D;ENSP00000411438:V63D;ENSP00000450980:V63D	ENSP00000373490:V63D	V	-	2	0	DIO2	79747381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.956000	0.93066	2.162000	0.67917	0.528000	0.53228	GTC		PASS	0.607	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			5	24	5	24	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89656795	89656795	+	Splice_Site	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr14:89656795T>C	ENST00000345097.4	-	5	862		c.e5-2		FOXN3_ENST00000557258.1_Intron|FOXN3_ENST00000261302.5_Splice_Site|FOXN3_ENST00000555353.1_Intron	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3						mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTCAGGATCTGGAAAAATCA	0.413																																						uc001xxo.3																			1	Unknown(1)		lung(1)	skin(2)|ovary(1)	3						c.e5-1		checkpoint suppressor 1 isoform 1							88.0	83.0	85.0					14																	89656795		1920	4144	6064	SO:0001630	splice_region_variant	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89656795T>C		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.746-2A>G	14.37:g.89656795T>C						FOXN3_uc001xxn.3_Intron|FOXN3_uc010atk.2_Intron	p.D249_splice	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN			5	883	-								Q96II7|Q9UIE7	Splice_Site	SNP	ENST00000345097.4	37	c.746_splice	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.553816	0.65425	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000553840;ENST00000553353	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9746	0.80054	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOXN3	88726548	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.957000	0.56730	2.177000	0.69029	0.533000	0.62120	.		PASS	0.413	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197	Intron	4	19	4	19	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96779691	96779691	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr14:96779691G>A	ENST00000359933.4	-	24	4617	c.3724C>T	c.(3724-3726)Ctt>Ttt	p.L1242F	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1242					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.L1242F(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGCTCCAAAGATGAACATGA	0.264																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(3724-3726)CTT>TTT		ATG2 autophagy related 2 homolog B							56.0	57.0	57.0					14																	96779691		2203	4297	6500	SO:0001583	missense	55102							g.chr14:96779691G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3724C>T	14.37:g.96779691G>A	ENSP00000353010:p.Leu1242Phe						p.L1242F	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	24	4089	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1242					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.3724C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389787	0.82902	.	.	ENSG00000066739	ENST00000359933	T	0.18810	2.19	5.66	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.55213	1.73	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.07309	-1.0779	10	0.49607	T	0.09	.	14.0261	0.64586	0.0723:0.0:0.9277:0.0	.	1242	Q96BY7	ATG2B_HUMAN	F	1242	ENSP00000353010:L1242F	ENSP00000353010:L1242F	L	-	1	0	ATG2B	95849444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.122000	0.71608	2.663000	0.90544	0.655000	0.94253	CTT		PASS	0.264	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		11	47	11	47	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22368679	22368679	+	Missense_Mutation	SNP	A	A	G	rs200865859		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:22368679A>G	ENST00000332663.2	+	1	202	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y35C(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)		CTATCCTTCTATTTGTTCATC	0.418													.|||	1	0.000199681	0.0008	0.0	5008	,	,		32721	0.0		0.0	False		,,,				2504	0.0					uc010tzu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(103-105)TAT>TGT		olfactory receptor, family 4, subfamily M,							351.0	311.0	325.0					15																	22368679		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368679A>G	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.104A>G	15.37:g.22368679A>G	ENSP00000329467:p.Tyr35Cys					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.Y35C	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	104	+		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)	35			Helical; Name=1; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.104A>G	CCDS32172.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	5.731	0.319392	0.10845	.	.	ENSG00000182974	ENST00000332663	T	0.04706	3.57	2.5	2.5	0.30297	.	0.000000	0.42682	D	0.000666	T	0.14356	0.0347	H	0.96518	3.835	0.20074	N	0.999938	B	0.14012	0.009	B	0.25759	0.063	T	0.15549	-1.0433	10	0.87932	D	0	-10.8987	8.5824	0.33637	1.0:0.0:0.0:0.0	.	35	Q8NGB6	OR4M2_HUMAN	C	35	ENSP00000329467:Y35C	ENSP00000329467:Y35C	Y	+	2	0	OR4M2	19870043	1.000000	0.71417	0.995000	0.50966	0.528000	0.34623	5.576000	0.67437	1.167000	0.42706	0.368000	0.22195	TAT		PASS	0.418	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			24	343	24	343	---	---	---	---
GOLGA8EP	390535	broad.mit.edu	37	15	23444021	23444021	+	RNA	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:23444021C>A	ENST00000526079.1	+	0	1665				RN7SL106P_ENST00000488468.2_RNA|AC100757.1_ENST00000458911.1_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene									p.H226N(1)									CGGAGGAGAACATCTGGACAG	0.617																																						uc001yvu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(676-678)CAT>AAT		golgi autoantigen, golgin subfamily a, 8E							19.0	25.0	23.0					15																	23444021		1488	2697	4185			390535							g.chr15:23444021C>A			15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23444021C>A							p.H226N	NM_001012423	NP_001012423				all cancers(64;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614)	14	1665	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)							Missense_Mutation	SNP	ENST00000526079.1	37	c.676C>A																																																																																					PASS	0.617	GOLGA8EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393312.1	NR_033350.1		4	82	4	82	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921383	24921383	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:24921383C>G	ENST00000329468.2	+	1	843	c.369C>G	c.(367-369)ttC>ttG	p.F123L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	123					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F123L(1)									GCCGCATGTTCACTCTCCTGC	0.652																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(367-369)TTC>TTG		hypothetical protein LOC23742							58.0	48.0	51.0					15																	24921383		2202	4298	6500	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921383C>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.369C>G	15.37:g.24921383C>G	ENSP00000333735:p.Phe123Leu						p.F123L	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	843	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	123						Missense_Mutation	SNP	ENST00000329468.2	37	c.369C>G	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	10.66	1.412695	0.25465	.	.	ENSG00000185823	ENST00000329468	T	0.10099	2.91	1.73	-2.91	0.05631	.	2.571960	0.01777	N	0.031544	T	0.10809	0.0264	L	0.47190	1.495	0.09310	N	1	P	0.42078	0.77	B	0.44315	0.446	T	0.22556	-1.0213	10	0.15066	T	0.55	.	2.1956	0.03910	0.2984:0.3645:0.0:0.3371	.	123	Q9NZP6	CO002_HUMAN	L	123	ENSP00000333735:F123L	ENSP00000333735:F123L	F	+	3	2	C15orf2	22472476	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.313000	0.02718	-0.725000	0.04901	0.484000	0.47621	TTC		PASS	0.652	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		10	40	10	40	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27573988	27573988	+	Missense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:27573988A>T	ENST00000333743.6	+	5	781	c.527A>T	c.(526-528)cAc>cTc	p.H176L	GABRG3_ENST00000555083.1_Missense_Mutation_p.H176L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	176					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.H176L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|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)	CTGCAGCTGCACAACTTCCCC	0.592																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CAC>CTC		gamma-aminobutyric acid (GABA) A receptor, gamma							81.0	83.0	82.0					15																	27573988		2138	4257	6395	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27573988A>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.527A>T	15.37:g.27573988A>T	ENSP00000331912:p.His176Leu					GABRG3_uc001zbf.2_Missense_Mutation_p.H176L	p.H176L	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	5	693	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	176			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.527A>T	CCDS45195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.06|14.06	2.423746|2.423746	0.43020|0.43020	.|.	.|.	ENSG00000182256|ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696|ENST00000557596	T;T;T|.	0.78707|.	-1.2;-1.2;-1.2|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68604|0.68604	0.3019|0.3019	L|L	0.55990|0.55990	1.75|1.75	0.58432|0.58432	D|D	0.999993|0.999993	B;P|.	0.42409|.	0.04;0.779|.	B;P|.	0.45310|.	0.05;0.476|.	T|T	0.67173|0.67173	-0.5737|-0.5737	10|5	0.30854|.	T|.	0.27|.	.|.	14.8148|14.8148	0.70024|0.70024	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	176;176|.	Q99928;G3V594|.	GBRG3_HUMAN;.|.	L|S	176;176;118|9	ENSP00000331912:H176L;ENSP00000452244:H176L;ENSP00000451862:H118L|.	ENSP00000331912:H176L|.	H|T	+|+	2|1	0|0	GABRG3|GABRG3	25156734|25156734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.509000|8.509000	0.90529|0.90529	2.166000|2.166000	0.68216|0.68216	0.460000|0.460000	0.39030|0.39030	CAC|ACA		PASS	0.592	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			9	40	9	40	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33922197	33922197	+	Silent	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:33922197A>T	ENST00000389232.4	+	22	2806	c.2736A>T	c.(2734-2736)ccA>ccT	p.P912P	RYR3_ENST00000415757.3_Silent_p.P912P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	912	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.P912P(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAAGCTCCCAGAAACTGAGA	0.348																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(2734-2736)CCA>CCT		ryanodine receptor 3							89.0	81.0	84.0					15																	33922197		1838	4092	5930	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33922197A>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2736A>T	15.37:g.33922197A>T						RYR3_uc010bar.2_Silent_p.P912P	p.P912P	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	22	2806	+		all_lung(180;7.18e-09)	912			4 X approximate repeats.|1.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.2736A>T	CCDS45210.1																																																																																				PASS	0.348	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	17	6	17	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34064229	34064229	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:34064229G>T	ENST00000389232.4	+	63	8995	c.8925G>T	c.(8923-8925)aaG>aaT	p.K2975N	RYR3_ENST00000415757.3_Missense_Mutation_p.K2975N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2975					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.K2975N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACTTGGGAAGTTCACCCATT	0.468																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8923-8925)AAG>AAT		ryanodine receptor 3							86.0	81.0	82.0					15																	34064229		1875	4106	5981	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34064229G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8925G>T	15.37:g.34064229G>T	ENSP00000373884:p.Lys2975Asn					RYR3_uc010bar.2_Missense_Mutation_p.K2975N	p.K2975N	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	63	8995	+		all_lung(180;7.18e-09)	2975			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8925G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514859	0.44763	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97161	-4.27;-4.27	5.65	5.65	0.86999	.	0.126644	0.52532	D	0.000063	D	0.96673	0.8914	L	0.58810	1.83	0.41788	D	0.98985	D;D	0.62365	0.991;0.972	P;P	0.56563	0.801;0.694	D	0.95582	0.8647	10	0.87932	D	0	.	6.8382	0.23947	0.1941:0.0:0.8059:0.0	.	2975;2975	Q15413-2;Q15413	.;RYR3_HUMAN	N	2975	ENSP00000373884:K2975N;ENSP00000399610:K2975N	ENSP00000354735:K2975N	K	+	3	2	RYR3	31851521	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.506000	0.45433	2.941000	0.99782	0.655000	0.94253	AAG		PASS	0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	30	9	30	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41827134	41827134	+	Splice_Site	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:41827134C>T	ENST00000304330.4	-	6	658		c.e6-1		RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Splice_Site	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1							nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.?(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTCACGGCACCTGGAAGAAAG	0.542																																						uc001zod.2																			1	Unknown(1)		lung(1)	large_intestine(1)	1						c.e6-1		RNA polymerase II associated protein 1							48.0	44.0	45.0					15																	41827134		2203	4300	6503	SO:0001630	splice_region_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41827134C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.542-1G>A	15.37:g.41827134C>T							p.G181_splice	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	6	666	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)						Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Splice_Site	SNP	ENST00000304330.4	37	c.542_splice	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218935	0.79464	.	.	ENSG00000103932	ENST00000304330	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9926	0.58627	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPAP1	39614426	0.997000	0.39634	0.997000	0.53966	0.732000	0.41865	3.338000	0.52128	2.442000	0.82660	0.491000	0.48974	.		PASS	0.542	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540	Intron	7	47	7	47	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52620125	52620125	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:52620125G>A	ENST00000399231.3	-	35	4802	c.4559C>T	c.(4558-4560)gCt>gTt	p.A1520V	MYO5A_ENST00000358212.6_Missense_Mutation_p.A1545V|MYO5A_ENST00000399233.2_Missense_Mutation_p.A1517V|MYO5A_ENST00000553916.1_Missense_Mutation_p.A1518V|MYO5A_ENST00000356338.6_Missense_Mutation_p.A1493V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1520					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.A1520V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CAGGTAGTCAGCATGTCGAAC	0.363																																						uc002aby.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(4558-4560)GCT>GTT		myosin VA isoform 1							245.0	221.0	228.0					15																	52620125		1956	4169	6125	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52620125G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4559C>T	15.37:g.52620125G>A	ENSP00000382177:p.Ala1520Val					MYO5A_uc002abx.3_Missense_Mutation_p.A1493V|MYO5A_uc010ugd.1_Missense_Mutation_p.A242V	p.A1520V	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	35	4803	-			1520					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.4559C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	36	5.869273	0.97049	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.71581	2.175	0.80722	D	1	D;P;P	0.59357	0.985;0.758;0.891	P;P;P	0.62649	0.905;0.493;0.673	T	0.50808	-0.8784	10	0.46703	T	0.11	.	20.0493	0.97618	0.0:0.0:1.0:0.0	.	250;1520;1493	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	V	1520;1027;1517;1493;1545;1123;1518	ENSP00000382177:A1520V;ENSP00000382179:A1517V;ENSP00000348693:A1493V;ENSP00000350945:A1545V;ENSP00000451109:A1518V	ENSP00000348693:A1493V	A	-	2	0	MYO5A	50407417	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.745000	0.94114	0.491000	0.48974	GCT		PASS	0.363	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		40	172	40	172	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52659297	52659297	+	Missense_Mutation	SNP	T	T	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:52659297T>G	ENST00000399231.3	-	23	3334	c.3091A>C	c.(3091-3093)Aat>Cat	p.N1031H	MYO5A_ENST00000358212.6_Missense_Mutation_p.N1031H|MYO5A_ENST00000399233.2_Missense_Mutation_p.N1031H|MYO5A_ENST00000553916.1_Missense_Mutation_p.N1031H|MYO5A_ENST00000356338.6_Missense_Mutation_p.N1031H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1031					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.N1031H(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AGCAAAGTATTTTCTTCCTTC	0.433																																						uc002aby.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3091-3093)AAT>CAT		myosin VA isoform 1							169.0	158.0	162.0					15																	52659297		1923	4133	6056	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52659297T>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3091A>C	15.37:g.52659297T>G	ENSP00000382177:p.Asn1031His					MYO5A_uc002abx.3_Missense_Mutation_p.N1031H|MYO5A_uc010uge.1_Missense_Mutation_p.N900H	p.N1031H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	23	3335	-			1031			Potential.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.3091A>C	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.969155	0.92855	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	L	0.60455	1.87	0.80722	D	1	P;D	0.89917	0.805;1.0	B;D	0.91635	0.334;0.999	T	0.54241	-0.8323	10	0.66056	D	0.02	.	16.0365	0.80635	0.0:0.0:0.0:1.0	.	1031;1031	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	1031;565;1031;1031;1031;661;1031	ENSP00000382177:N1031H;ENSP00000382179:N1031H;ENSP00000348693:N1031H;ENSP00000350945:N1031H;ENSP00000451109:N1031H	ENSP00000348693:N1031H	N	-	1	0	MYO5A	50446589	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.397000	0.79903	2.250000	0.74265	0.533000	0.62120	AAT		PASS	0.433	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		14	53	14	53	---	---	---	---
ZNF280D	54816	broad.mit.edu	37	15	56981257	56981257	+	Silent	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:56981257A>G	ENST00000267807.7	-	9	978	c.762T>C	c.(760-762)ccT>ccC	p.P254P	ZNF280D_ENST00000559000.1_Silent_p.P241P|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559237.1_Silent_p.P241P	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	254					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.P254P(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GATTTTTCAAAGGATCCAAAA	0.289																																						uc002adu.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(760-762)CCT>CCC		suppressor of hairy wing homolog 4 isoform 1							65.0	69.0	68.0					15																	56981257		2191	4286	6477	SO:0001819	synonymous_variant	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56981257A>G	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.762T>C	15.37:g.56981257A>G						ZNF280D_uc002adv.2_Silent_p.P241P|ZNF280D_uc010bfq.2_Silent_p.P254P|ZNF280D_uc002adw.1_Silent_p.P282P|ZNF280D_uc010bfr.1_RNA	p.P254P	NM_017661	NP_060131	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	9	979	-			254					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	37	c.762T>C	CCDS32245.1																																																																																				PASS	0.289	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		14	66	14	66	---	---	---	---
ICE2	79664	broad.mit.edu	37	15	60715913	60715913	+	Missense_Mutation	SNP	T	T	A	rs536157742		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:60715913T>A	ENST00000261520.4	-	16	3103	c.2869A>T	c.(2869-2871)Atg>Ttg	p.M957L	NARG2_ENST00000439632.1_Missense_Mutation_p.M820L	NM_024611.4	NP_078887.2												p.M957L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TTGGTTTCCATGGAAACTGGA	0.423																																						uc002agp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2869-2871)ATG>TTG		NMDA receptor regulated 2 isoform a							84.0	72.0	76.0					15																	60715913		2203	4300	6503	SO:0001583	missense	79664					nucleus		g.chr15:60715913T>A																												ENST00000261520.4:c.2869A>T	15.37:g.60715913T>A	ENSP00000261520:p.Met957Leu					NARG2_uc002ago.2_Missense_Mutation_p.M820L	p.M957L	NM_024611	NP_078887	Q659A1	NARG2_HUMAN			16	3104	-			957						Missense_Mutation	SNP	ENST00000261520.4	37	c.2869A>T	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676393	0.47886	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.44	3.1	0.35709	.	0.294969	0.33534	N	0.004801	T	0.25344	0.0616	N	0.24115	0.695	0.25589	N	0.986715	B	0.11235	0.004	B	0.09377	0.004	T	0.14008	-1.0488	9	0.51188	T	0.08	-4.4472	5.9123	0.19035	0.0:0.155:0.1417:0.7033	.	957	Q659A1	NARG2_HUMAN	L	957;820	.	ENSP00000261520:M957L	M	-	1	0	NARG2	58503205	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.925000	0.28791	1.040000	0.40099	0.524000	0.50904	ATG		PASS	0.423	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			7	47	7	47	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63904582	63904582	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:63904582C>G	ENST00000443617.2	-	77	14355	c.14268G>C	c.(14266-14268)tgG>tgC	p.W4756C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4756	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.W4756C(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGTGCCAGAACCACTGCACCA	0.532																																						uc002amp.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(14266-14268)TGG>TGC		hect domain and RCC1-like domain 1							137.0	134.0	135.0					15																	63904582		2139	4249	6388	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63904582C>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14268G>C	15.37:g.63904582C>G	ENSP00000390158:p.Trp4756Cys					HERC1_uc002amo.2_5'Flank	p.W4756C	NM_003922	NP_003913	Q15751	HERC1_HUMAN			77	14416	-			4756			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.14268G>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661002	0.88154	.	.	ENSG00000103657	ENST00000443617	D	0.84070	-1.8	5.62	5.62	0.85841	HECT (4);	0.000000	0.85682	D	0.000000	D	0.93618	0.7962	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94598	0.7793	10	0.87932	D	0	.	19.6763	0.95934	0.0:1.0:0.0:0.0	.	4756	Q15751	HERC1_HUMAN	C	4756	ENSP00000390158:W4756C	ENSP00000390158:W4756C	W	-	3	0	HERC1	61691635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.644000	0.89710	0.650000	0.86243	TGG		PASS	0.532	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		19	57	19	57	---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68624760	68624760	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:68624760C>A	ENST00000315757.7	-	13	1568	c.1482G>T	c.(1480-1482)gtG>gtT	p.V494V	ITGA11_ENST00000423218.2_Silent_p.V494V	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	494					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.V494V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGACATCAGTCACGCCGTCGC	0.607																																						uc002ari.2																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|pancreas(1)	3						c.(1480-1482)GTG>GTT		integrin, alpha 11 precursor	Tirofiban(DB00775)						46.0	49.0	48.0					15																	68624760		2124	4233	6357	SO:0001819	synonymous_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68624760C>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1482G>T	15.37:g.68624760C>A						ITGA11_uc010bib.2_Silent_p.V494V	p.V494V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			13	1569	-			494			FG-GAP 5.|Potential.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	c.1482G>T	CCDS45291.1																																																																																				PASS	0.607	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		7	13	7	13	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69328164	69328164	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:69328164G>T	ENST00000388866.3	+	7	1117	c.1076G>T	c.(1075-1077)gGc>gTc	p.G359V	NOX5_ENST00000260364.5_Missense_Mutation_p.G341V|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Missense_Mutation_p.G313V|NOX5_ENST00000530406.2_Missense_Mutation_p.G331V|NOX5_ENST00000455873.3_Missense_Mutation_p.G324V	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	359	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.G341V(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ACGAGGCCTGGCATTGGCTGG	0.602																																						uc002ars.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(1075-1077)GGC>GTC		NADPH oxidase, EF-hand calcium binding domain 5							114.0	98.0	103.0					15																	69328164		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328164G>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1076G>T	15.37:g.69328164G>T	ENSP00000373518:p.Gly359Val					NOX5_uc002arp.1_Missense_Mutation_p.G341V|NOX5_uc002arq.1_Missense_Mutation_p.G313V|NOX5_uc010bid.1_Missense_Mutation_p.G324V|NOX5_uc002arr.1_Missense_Mutation_p.G331V|NOX5_uc010bie.1_Missense_Mutation_p.G159V|NOX5_uc010bif.1_RNA	p.G359V	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			7	1096	+			359			Extracellular (Potential).|Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.1076G>T	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965350	0.34659	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.90444	-2.67;-2.67;-2.67	3.44	2.49	0.30216	Flavoprotein transmembrane component (1);	0.131128	0.50627	D	0.000108	D	0.95050	0.8397	M	0.92691	3.335	0.80722	D	1	D;D;D	0.69078	0.981;0.997;0.994	P;D;P	0.68621	0.816;0.959;0.878	D	0.93136	0.6537	10	0.19147	T	0.46	-8.0814	11.0722	0.48010	0.0:0.1905:0.8095:0.0	.	324;359;331	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	V	324;341;359;331	ENSP00000416828:G324V;ENSP00000373518:G359V;ENSP00000432440:G331V	ENSP00000373518:G359V	G	+	2	0	NOX5	67115218	1.000000	0.71417	0.500000	0.27589	0.018000	0.09664	3.803000	0.55560	0.405000	0.25532	0.462000	0.41574	GGC		PASS	0.602	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		26	103	26	103	---	---	---	---
LOXL1	4016	broad.mit.edu	37	15	74239501	74239501	+	Silent	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:74239501C>T	ENST00000261921.7	+	4	1769	c.1443C>T	c.(1441-1443)tgC>tgT	p.C481C		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	481	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)	p.C481C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCAGTTTCTGCCTGGAGGACA	0.592																																						uc002awc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1441-1443)TGC>TGT		lysyl oxidase-like 1 preproprotein							91.0	81.0	84.0					15																	74239501		2198	4297	6495	SO:0001819	synonymous_variant	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74239501C>T	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1443C>T	15.37:g.74239501C>T						LOXL1_uc002awd.1_5'Flank	p.C481C	NM_005576	NP_005567	Q08397	LOXL1_HUMAN			4	1779	+			481			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Silent	SNP	ENST00000261921.7	37	c.1443C>T	CCDS10253.1																																																																																				PASS	0.592	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		9	65	9	65	---	---	---	---
CHRNB4	1143	broad.mit.edu	37	15	78923422	78923422	+	Missense_Mutation	SNP	T	T	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:78923422T>G	ENST00000261751.3	-	4	466	c.355A>C	c.(355-357)Aac>Cac	p.N119H	CHRNB4_ENST00000560511.1_5'UTR|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Missense_Mutation_p.N119H	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	119					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.N119H(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ACTCACTTGTTGTAAAGCACG	0.602																																						uc002bed.1																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)AAC>CAC		cholinergic receptor, nicotinic, beta 4							90.0	72.0	78.0					15																	78923422		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78923422T>G	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.355A>C	15.37:g.78923422T>G	ENSP00000261751:p.Asn119His					CHRNB4_uc002bee.1_Missense_Mutation_p.N119H|CHRNB4_uc010blh.1_5'UTR	p.N119H	NM_000750	NP_000741	P30926	ACHB4_HUMAN			4	467	-			119			Extracellular (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.355A>C	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834593	0.91036	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	D;D	0.86865	-2.18;-2.18	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.055023	0.64402	D	0.000001	D	0.94745	0.8304	M	0.91406	3.205	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95819	0.8848	10	0.87932	D	0	.	15.4592	0.75339	0.0:0.0:0.0:1.0	.	119;119	E9PHE8;P30926	.;ACHB4_HUMAN	H	119	ENSP00000261751:N119H;ENSP00000416386:N119H	ENSP00000261751:N119H	N	-	1	0	CHRNB4	76710477	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.956000	0.87863	2.066000	0.61787	0.529000	0.55759	AAC		PASS	0.602	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			14	47	14	47	---	---	---	---
EFTUD1	79631	broad.mit.edu	37	15	82507156	82507156	+	Missense_Mutation	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr15:82507156T>C	ENST00000268206.7	-	15	1820	c.1652A>G	c.(1651-1653)cAa>cGa	p.Q551R	EFTUD1_ENST00000359445.3_Missense_Mutation_p.Q500R	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	551					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.Q551R(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTGGGGGACTTGGGGGAGGCC	0.478																																						uc002bgt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1651-1653)CAA>CGA		elongation factor Tu GTP binding domain							32.0	33.0	33.0					15																	82507156		1815	4054	5869	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82507156T>C	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1652A>G	15.37:g.82507156T>C	ENSP00000268206:p.Gln551Arg					EFTUD1_uc002bgu.1_Missense_Mutation_p.Q500R	p.Q551R	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			15	1821	-			551					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.1652A>G	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	6.160	0.397802	0.11696	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.63913	-0.07;0.19	4.35	3.44	0.39384	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.915593	0.08817	U	0.889284	T	0.49474	0.1559	L	0.33245	0.995	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.33343	-0.9872	10	0.16896	T	0.51	-6.5744	9.5752	0.39454	0.0:0.1538:0.684:0.1622	.	500;551	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	R	551;500	ENSP00000268206:Q551R;ENSP00000352418:Q500R	ENSP00000268206:Q551R	Q	-	2	0	EFTUD1	80294211	0.000000	0.05858	0.248000	0.24265	0.964000	0.63967	0.461000	0.21940	1.049000	0.40321	-0.223000	0.12442	CAA		PASS	0.478	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		15	54	15	54	---	---	---	---
MRPL28	10573	broad.mit.edu	37	16	419061	419061	+	Intron	SNP	C	C	T	rs557552106	byFrequency	TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr16:419061C>T	ENST00000199706.8	-	3	477				MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28						translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.?(1)		breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CGCCCCACCCCGCTTGCCTTG	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		18194	0.0		0.0	False		,,,				2504	0.002					uc002cgr.1																			1	Unknown(1)		lung(1)		0						c.(448-450)GGG>AGG		mitochondrial ribosomal protein L28 precursor							93.0	71.0	78.0					16																	419061		2203	4300	6503	SO:0001627	intron_variant	10573				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr16:419061C>T	U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"""Mitochondrial ribosomal proteins / large subunits"""	14484	protein-coding gene	gene with protein product		604853	"""melanoma-associated antigen recognised by cytotoxic T lymphocytes"""	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.441+6G>A	16.37:g.419061C>T						MRPL28_uc010bqu.1_Missense_Mutation_p.G150R|MRPL28_uc002cgs.1_Intron|MRPL28_uc002cgt.1_Missense_Mutation_p.G150R	p.G150R	NM_006428	NP_006419	Q13084	RM28_HUMAN			2	464	-		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)	150	TPK -> ASG (in Ref. 4).				B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Missense_Mutation	SNP	ENST00000199706.8	37	c.448G>A	CCDS32349.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.601892	0.00849	.	.	ENSG00000086504	ENST00000397735;ENST00000397734	.	.	.	2.24	-4.48	0.03515	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49476	-0.8936	7	0.18710	T	0.47	-1.3848	0.8736	0.01219	0.238:0.1348:0.3299:0.2973	.	150	Q4TT38	.	R	150	.	ENSP00000380842:G150R	G	-	1	0	MRPL28	359062	0.148000	0.22702	0.000000	0.03702	0.265000	0.26407	-1.929000	0.01558	-4.424000	0.00050	-2.447000	0.00209	GGG		PASS	0.592	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139285.2			5	32	5	32	---	---	---	---
PAQR4	124222	broad.mit.edu	37	16	3021660	3021660	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr16:3021660G>A	ENST00000318782.8	+	3	963	c.533G>A	c.(532-534)gGa>gAa	p.G178E	PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000576565.1_Missense_Mutation_p.G111E|PAQR4_ENST00000293978.8_Missense_Mutation_p.G139E|PAQR4_ENST00000572687.1_Missense_Mutation_p.G104E|PAQR4_ENST00000574988.1_Missense_Mutation_p.G111E|PKMYT1_ENST00000431515.2_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	178						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G178E(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CGGGCATTTGGATGGCAGGCT	0.697																																						uc002csj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(532-534)GGA>GAA		progestin and adipoQ receptor family member IV							29.0	34.0	32.0					16																	3021660		2198	4296	6494	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3021660G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.533G>A	16.37:g.3021660G>A	ENSP00000321804:p.Gly178Glu					PAQR4_uc002csk.3_Missense_Mutation_p.G139E|PAQR4_uc002csl.3_Missense_Mutation_p.G104E|PAQR4_uc010uwm.1_Missense_Mutation_p.G109E	p.G178E	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN			3	867	+			178					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.533G>A	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	g	9.864	1.197081	0.22037	.	.	ENSG00000162073	ENST00000318782;ENST00000293978	T	0.29917	1.55	4.43	3.48	0.39840	.	0.230476	0.33916	N	0.004437	T	0.20700	0.0498	L	0.38175	1.15	0.38011	D	0.93455	P;B;P	0.45827	0.867;0.358;0.586	P;B;B	0.44447	0.45;0.153;0.239	T	0.15235	-1.0444	10	0.07175	T	0.84	-10.096	6.1569	0.20342	0.1022:0.1897:0.7081:0.0	.	103;139;178	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	E	178;104	ENSP00000321804:G178E	ENSP00000293978:G104E	G	+	2	0	PAQR4	2961661	1.000000	0.71417	0.987000	0.45799	0.213000	0.24496	3.171000	0.50824	1.085000	0.41206	0.450000	0.29827	GGA		PASS	0.697	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		19	71	19	71	---	---	---	---
UMOD	7369	broad.mit.edu	37	16	20357448	20357448	+	Splice_Site	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr16:20357448C>T	ENST00000570689.1	-	5	1328	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	UMOD_ENST00000424589.1_Splice_Site_p.T427T|UMOD_ENST00000396134.2_Splice_Site_p.T427T|UMOD_ENST00000396142.2_Splice_Site_p.T394T|UMOD_ENST00000302509.4_Splice_Site_p.T394T|UMOD_ENST00000396138.4_Splice_Site_p.T443T			P07911	UROM_HUMAN	uromodulin	394	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.T394T(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGGACGTACCGTCAACACTG	0.567																																						uc002dgz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1180-1182)ACG>ACA		uromodulin precursor							31.0	33.0	32.0					16																	20357448		2203	4300	6503	SO:0001630	splice_region_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20357448C>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1182+1G>A	16.37:g.20357448C>T						UMOD_uc002dha.2_Silent_p.T394T|UMOD_uc002dhb.2_Silent_p.T427T	p.T394T	NM_003361	NP_003352	P07911	UROM_HUMAN			5	1311	-			394			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1182G>A	CCDS10583.1																																																																																				PASS	0.567	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		Silent	9	33	9	33	---	---	---	---
NECAB2	54550	broad.mit.edu	37	16	84014678	84014678	+	Silent	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr16:84014678C>T	ENST00000305202.4	+	5	422	c.405C>T	c.(403-405)gcC>gcT	p.A135A	NECAB2_ENST00000565691.1_Silent_p.A52A	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	135						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.A135A(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						ATGTCCTGGCCTCCCTGGAGA	0.587																																						uc002fhd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(403-405)GCC>GCT		neuronal calcium-binding protein 2							239.0	209.0	219.0					16																	84014678		2200	4300	6500	SO:0001819	synonymous_variant	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84014678C>T	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.405C>T	16.37:g.84014678C>T						NECAB2_uc002fhe.2_Silent_p.A52A	p.A135A	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN			5	422	+			135					A2RRG3|O75547|Q6ZSK0	Silent	SNP	ENST00000305202.4	37	c.405C>T	CCDS10940.1																																																																																				PASS	0.587	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		68	102	68	102	---	---	---	---
ACSF3	197322	broad.mit.edu	37	16	89187245	89187245	+	Missense_Mutation	SNP	G	G	C	rs559765310		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr16:89187245G>C	ENST00000317447.4	+	7	1540	c.1163G>C	c.(1162-1164)cGc>cCc	p.R388P	ACSF3_ENST00000378345.4_Missense_Mutation_p.R123P|ACSF3_ENST00000406948.3_Missense_Mutation_p.R388P	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	388					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)	p.R388P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTACAGGTGCGCATTGTCTCA	0.592																																						uc002fmp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1162-1164)CGC>CCC		acyl-CoA synthetase family member 3 precursor							173.0	171.0	172.0					16																	89187245		2198	4300	6498	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89187245G>C	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1163G>C	16.37:g.89187245G>C	ENSP00000320646:p.Arg388Pro					ACSF3_uc010cig.1_Missense_Mutation_p.R388P|ACSF3_uc010cih.1_Missense_Mutation_p.R123P|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Missense_Mutation_p.R123P	p.R388P	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	7	1503	+			388					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.1163G>C	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810874	0.50421	.	.	ENSG00000176715	ENST00000317447;ENST00000540697;ENST00000406948;ENST00000378345;ENST00000544543	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.84	4.84	0.62591	AMP-dependent synthetase/ligase (1);	0.119819	0.64402	N	0.000019	T	0.70988	0.3287	M	0.93898	3.47	0.58432	D	0.999996	B	0.29270	0.24	B	0.43728	0.429	T	0.77040	-0.2735	10	0.72032	D	0.01	-20.1888	18.0034	0.89203	0.0:0.0:1.0:0.0	.	388	Q4G176	ACSF3_HUMAN	P	388;123;388;123;123	ENSP00000320646:R388P;ENSP00000445397:R123P;ENSP00000384627:R388P;ENSP00000367596:R123P;ENSP00000442781:R123P	ENSP00000320646:R388P	R	+	2	0	ACSF3	87714746	1.000000	0.71417	0.961000	0.40146	0.053000	0.15095	6.742000	0.74843	2.260000	0.74910	0.650000	0.86243	CGC		PASS	0.592	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		35	123	35	123	---	---	---	---
SGSM2	9905	broad.mit.edu	37	17	2266300	2266300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:2266300G>T	ENST00000426855.2	+	6	719	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	SGSM2_ENST00000574563.1_Nonsense_Mutation_p.E182*|SGSM2_ENST00000268989.3_Nonsense_Mutation_p.E182*	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	182	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E182*(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CTGTGCCTTGGAATACACTAA	0.617																																						uc002fun.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(544-546)GAA>TAA		RUN and TBC1 domain containing 1 isoform 2							89.0	80.0	83.0					17																	2266300		2203	4300	6503	SO:0001587	stop_gained	9905					intracellular	Rab GTPase activator activity	g.chr17:2266300G>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.544G>T	17.37:g.2266300G>T	ENSP00000415107:p.Glu182*					SGSM2_uc002fum.3_Nonsense_Mutation_p.E182*|SGSM2_uc010vqw.1_Nonsense_Mutation_p.E182*	p.E182*	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	6	719	+			182			RUN.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Nonsense_Mutation	SNP	ENST00000426855.2	37	c.544G>T	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	G	38	6.880578	0.97908	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.8909	18.2505	0.90000	0.0:0.0:1.0:0.0	.	.	.	.	X	182	.	ENSP00000268989:E182X	E	+	1	0	SGSM2	2213050	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.550000	0.86006	0.462000	0.41574	GAA		PASS	0.617	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		14	73	14	73	---	---	---	---
ALOX15	246	broad.mit.edu	37	17	4535513	4535513	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:4535513G>T	ENST00000570836.1	-	13	1700	c.1604C>A	c.(1603-1605)aCc>aAc	p.T535N	ALOX15_ENST00000574640.1_Missense_Mutation_p.T496N|ALOX15_ENST00000545513.1_Missense_Mutation_p.T557N|ALOX15_ENST00000293761.3_Missense_Mutation_p.T535N			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	535	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.T535N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GCCGGTGCAGGTGAAGATACA	0.572																																						uc002fyh.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|lung(1)	5						c.(1603-1605)ACC>AAC		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						78.0	76.0	76.0					17																	4535513		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4535513G>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1604C>A	17.37:g.4535513G>T	ENSP00000458832:p.Thr535Asn					ALOX15_uc010vsd.1_Missense_Mutation_p.T496N|ALOX15_uc010vse.1_Missense_Mutation_p.T557N	p.T535N	NM_001140	NP_001131	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	12	1618	-			535			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.1604C>A	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205888	0.58234	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.78816	-1.21;-1.21	4.08	4.08	0.47627	Lipoxygenase, C-terminal (3);	0.065245	0.64402	D	0.000014	D	0.84511	0.5488	M	0.63208	1.945	0.34445	D	0.700049	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.989;0.987;0.994	D	0.88501	0.3082	10	0.52906	T	0.07	-21.7122	11.6264	0.51147	0.0:0.0:1.0:0.0	.	557;496;535	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	N	535;557	ENSP00000293761:T535N;ENSP00000439855:T557N	ENSP00000293761:T535N	T	-	2	0	ALOX15	4482262	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.738000	0.47401	2.116000	0.64780	0.591000	0.81541	ACC		PASS	0.572	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			5	48	5	48	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	rs587782144		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:7578457C>A	ENST00000269305.4	-	5	662	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000420246.2_Missense_Mutation_p.R158L	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GGCCATGGCGCGGACGCGGGT	0.627		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		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(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	CM994513	TP53	M		c.(472-474)CGC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		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.chr17:7578457C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>T	17.37:g.7578457C>A	ENSP00000269305:p.Arg158Leu	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.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L	p.R158L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (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.473G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538284	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99869	0.9938	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.988;0.981;0.996;0.99;0.986;1.0	D	0.96498	0.9369	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158L;ENSP00000352610:R158L;ENSP00000269305:R158L;ENSP00000398846:R158L;ENSP00000391127:R158L;ENSP00000391478:R158L;ENSP00000425104:R26L;ENSP00000423862:R65L;ENSP00000424104:R158L	ENSP00000269305:R158L	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		PASS	0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	54	31	54	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10348599	10348599	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:10348599C>A	ENST00000255381.2	-	36	5360	c.5250G>T	c.(5248-5250)caG>caT	p.Q1750H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1750					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.Q1750H(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCGGGCTTCCTGGACGATGT	0.468																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(5248-5250)CAG>CAT		myosin, heavy polypeptide 4, skeletal muscle							263.0	205.0	224.0					17																	10348599		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348599C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5250G>T	17.37:g.10348599C>A	ENSP00000255381:p.Gln1750His					uc002gml.1_Intron	p.Q1750H	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			36	5361	-			1750			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.5250G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278855	0.40294	.	.	ENSG00000141048	ENST00000255381	T	0.78595	-1.19	5.58	4.62	0.57501	Myosin tail (1);	0.000000	0.35772	U	0.002987	D	0.82701	0.5094	M	0.91818	3.245	0.49051	D	0.999743	B	0.12630	0.006	B	0.21151	0.033	T	0.82532	-0.0410	10	0.72032	D	0.01	.	14.6893	0.69072	0.0:0.93:0.0:0.07	.	1750	Q9Y623	MYH4_HUMAN	H	1750	ENSP00000255381:Q1750H	ENSP00000255381:Q1750H	Q	-	3	2	MYH4	10289324	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	1.305000	0.33493	1.504000	0.48704	-0.339000	0.08088	CAG		PASS	0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		60	94	60	94	---	---	---	---
DHRS7B	25979	broad.mit.edu	37	17	21075445	21075445	+	Silent	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:21075445C>T	ENST00000395511.3	+	2	455	c.135C>T	c.(133-135)cgC>cgT	p.R45R	DHRS7B_ENST00000579303.1_Silent_p.R30R	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	45						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.R45R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						AGTGGGTGCGCGGGAAGGCCT	0.672																																						uc002gyo.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(133-135)CGC>CGT		dehydrogenase/reductase (SDR family) member 7B							36.0	34.0	34.0					17																	21075445		2203	4300	6503	SO:0001819	synonymous_variant	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21075445C>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.135C>T	17.37:g.21075445C>T						DHRS7B_uc010crc.1_Silent_p.R30R	p.R45R	NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN			2	162	+			45			Peroxisomal (Potential).		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Silent	SNP	ENST00000395511.3	37	c.135C>T	CCDS11215.1																																																																																				PASS	0.672	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510		12	17	12	17	---	---	---	---
ANKRD13B	124930	broad.mit.edu	37	17	27936294	27936294	+	Splice_Site	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:27936294G>T	ENST00000394859.3	+	6	909		c.e6+1		RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B							endosome (GO:0005768)|plasma membrane (GO:0005886)		p.?(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCTTTGAGAGGTGGGTGGACA	0.622																																						uc002hei.2																			1	Unknown(1)		lung(1)		0						c.e6+1		ankyrin repeat domain 13B							34.0	31.0	32.0					17																	27936294		2203	4300	6503	SO:0001630	splice_region_variant	124930							g.chr17:27936294G>T	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.755+1G>T	17.37:g.27936294G>T						ANKRD13B_uc002heh.2_Splice_Site_p.R120_splice|ANKRD13B_uc002hej.2_Splice_Site	p.R252_splice	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN			6	868	+								Q8N7S9	Splice_Site	SNP	ENST00000394859.3	37	c.755_splice	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454924	0.84209	.	.	ENSG00000198720	ENST00000394859	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2235	0.93808	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD13B	24960420	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.753000	0.98904	2.652000	0.90054	0.561000	0.74099	.		PASS	0.622	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345	Intron	3	18	3	18	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40940793	40940793	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:40940793C>A	ENST00000246914.5	+	11	2156	c.2135C>A	c.(2134-2136)cCg>cAg	p.P712Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	712					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.P712Q(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGGGACAGCCCGGAAGAGATT	0.532																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|stomach(1)	7						c.(2134-2136)CCG>CAG		WNK lysine deficient protein kinase 4							117.0	91.0	100.0					17																	40940793		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40940793C>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2135C>A	17.37:g.40940793C>A	ENSP00000246914:p.Pro712Gln					WNK4_uc010wgx.1_Missense_Mutation_p.P376Q|WNK4_uc002ibk.1_Missense_Mutation_p.P484Q|WNK4_uc010wgy.1_Missense_Mutation_p.P56Q	p.P712Q	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	11	2156	+		Breast(137;0.000143)	712					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2135C>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729281	0.89390	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.35605	1.3	4.98	4.98	0.66077	.	0.000000	0.48767	D	0.000169	T	0.60689	0.2288	M	0.71871	2.18	0.53688	D	0.999971	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.64330	-0.6433	10	0.87932	D	0	-15.3627	17.1747	0.86838	0.0:1.0:0.0:0.0	.	56;712;712;712	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	Q	712;484;56	ENSP00000246914:P712Q	ENSP00000246914:P712Q	P	+	2	0	WNK4	38194319	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.609000	0.82925	2.598000	0.87819	0.655000	0.94253	CCG		PASS	0.532	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			51	63	51	63	---	---	---	---
WNT3	7473	broad.mit.edu	37	17	44895951	44895951	+	Missense_Mutation	SNP	G	G	T	rs140453711		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:44895951G>T	ENST00000225512.5	-	1	175	c.13C>A	c.(13-15)Ctg>Atg	p.L5M		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	5					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.L5M(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGCCCGAGCAGGTGGGGCTCC	0.632																																						uc002ikv.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(13-15)CTG>ATG		wingless-type MMTV integration site family,		G	MET/LEU	1,4377		0,1,2188	18.0	19.0	18.0		13	4.1	1.0	17	dbSNP_134	18	0,8590		0,0,4295	no	missense	WNT3	NM_030753.3	15	0,1,6483	TT,TG,GG		0.0,0.0228,0.0077	possibly-damaging	5/356	44895951	1,12967	2189	4295	6484	SO:0001583	missense	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44895951G>T	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.13C>A	17.37:g.44895951G>T	ENSP00000225512:p.Leu5Met						p.L5M	NM_030753	NP_110380	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		1	132	-			5					Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	c.13C>A	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346291	0.41599	2.28E-4	0.0	ENSG00000108379	ENST00000225512	T	0.77229	-1.08	4.1	4.1	0.47936	.	1.291840	0.05302	N	0.523131	T	0.73598	0.3607	N	0.08118	0	0.34654	D	0.721971	P	0.44006	0.824	P	0.51297	0.665	T	0.68577	-0.5372	10	0.31617	T	0.26	.	14.6381	0.68704	0.0:0.0:1.0:0.0	.	5	P56703	WNT3_HUMAN	M	5	ENSP00000225512:L5M	ENSP00000225512:L5M	L	-	1	2	WNT3	42250950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.373000	0.59537	2.281000	0.76405	0.561000	0.74099	CTG		PASS	0.632	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		15	6	15	6	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51902274	51902274	+	Missense_Mutation	SNP	C	C	A	rs551246333		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:51902274C>A	ENST00000268919.4	+	1	2036	c.1880C>A	c.(1879-1881)gCt>gAt	p.A627D		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	627					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A627D(1)|p.A627G(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGGAGAGAGCTGGTGGAGTA	0.438																																						uc002iua.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(3)	8						c.(1879-1881)GCT>GAT		kinesin family member 2B							171.0	156.0	161.0					17																	51902274		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902274C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1880C>A	17.37:g.51902274C>A	ENSP00000268919:p.Ala627Asp					uc010wna.1_RNA	p.A627D	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	2036	+			627					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1880C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	3.670	-0.067804	0.07228	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75589	-0.95	5.65	3.63	0.41609	.	0.345102	0.20585	N	0.089459	T	0.62392	0.2424	N	0.24115	0.695	0.09310	N	1	B	0.33135	0.399	B	0.37091	0.241	T	0.57447	-0.7810	10	0.66056	D	0.02	.	9.8671	0.41150	0.0:0.8238:0.0:0.1762	.	627	Q8N4N8	KIF2B_HUMAN	D	627;515	ENSP00000268919:A627D	ENSP00000268919:A627D	A	+	2	0	KIF2B	49257273	0.020000	0.18652	0.001000	0.08648	0.001000	0.01503	1.253000	0.32886	0.793000	0.33875	0.655000	0.94253	GCT		PASS	0.438	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		50	69	50	69	---	---	---	---
NOL11	25926	broad.mit.edu	37	17	65739606	65739606	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:65739606G>T	ENST00000253247.4	+	17	2062	c.1947G>T	c.(1945-1947)tgG>tgT	p.W649C	SNORA38B_ENST00000363524.1_RNA|NOL11_ENST00000535137.1_Missense_Mutation_p.W467C	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	649					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.W649C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTATGGATTGGATATGTCTAC	0.308																																						uc002jgd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1945-1947)TGG>TGT		nucleolar protein 11							76.0	80.0	78.0					17																	65739606		2203	4294	6497	SO:0001583	missense	25926					nucleolus		g.chr17:65739606G>T	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1947G>T	17.37:g.65739606G>T	ENSP00000253247:p.Trp649Cys					NOL11_uc010wql.1_Missense_Mutation_p.W467C|NOL11_uc010deu.1_Missense_Mutation_p.W244C	p.W649C	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		17	1950	+	all_cancers(12;1.54e-10)		649					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.1947G>T	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645653	0.29246	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.72835	-0.69	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86697	0.1927	10	0.87932	D	0	-6.7423	17.1585	0.86798	0.0:0.0:1.0:0.0	.	649	Q9H8H0	NOL11_HUMAN	C	649;467	ENSP00000253247:W649C	ENSP00000253247:W649C	W	+	3	0	NOL11	63170068	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.292000	0.89930	2.416000	0.81992	0.563000	0.77884	TGG		PASS	0.308	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		11	134	11	134	---	---	---	---
MAP2K6	5608	broad.mit.edu	37	17	67519684	67519684	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:67519684G>T	ENST00000590474.1	+	8	852	c.565G>T	c.(565-567)Gct>Tct	p.A189S	MAP2K6_ENST00000589647.1_Missense_Mutation_p.A133S	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A189S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					ACTCATCAATGCTCTCGGTCA	0.458																																						uc002jij.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|pancreas(1)	5						c.(565-567)GCT>TCT		mitogen-activated protein kinase kinase 6							344.0	305.0	318.0					17																	67519684		2203	4300	6503	SO:0001583	missense	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67519684G>T	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.565G>T	17.37:g.67519684G>T	ENSP00000468348:p.Ala189Ser						p.A189S	NM_002758	NP_002749	P52564	MP2K6_HUMAN			8	853	+	Breast(10;6.05e-10)		189			Protein kinase.			Missense_Mutation	SNP	ENST00000590474.1	37	c.565G>T	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391802	0.42410	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.73	-2.13	0.07144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.549214	0.19111	N	0.122430	T	0.11367	0.0277	N	0.01424	-0.875	0.23282	N	0.997982	B	0.02656	0.0	B	0.04013	0.001	T	0.32052	-0.9921	8	.	.	.	0.0863	11.6337	0.51192	0.4841:0.0:0.5159:0.0	.	189	P52564	MP2K6_HUMAN	S	189	.	.	A	+	1	0	MAP2K6	65031279	0.051000	0.20477	0.004000	0.12327	0.661000	0.39034	0.711000	0.25764	-0.629000	0.05575	0.655000	0.94253	GCT		PASS	0.458	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		82	172	82	172	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73723315	73723315	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr17:73723315G>T	ENST00000200181.3	+	3	307	c.120G>T	c.(118-120)gaG>gaT	p.E40D	ITGB4_ENST00000449880.2_Missense_Mutation_p.E40D|ITGB4_ENST00000579662.1_Missense_Mutation_p.E40D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.E40D|ITGB4_ENST00000450894.3_Missense_Mutation_p.E40D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	40	PSI.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.E40D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGCACGGAGTGTGTCCGTG	0.602																																						uc002jpg.2																			1	Substitution - Missense(1)		lung(1)	lung(4)	4						c.(118-120)GAG>GAT		integrin beta 4 isoform 1 precursor							85.0	66.0	73.0					17																	73723315		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73723315G>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.120G>T	17.37:g.73723315G>T	ENSP00000200181:p.Glu40Asp					ITGB4_uc002jph.2_Missense_Mutation_p.E40D|ITGB4_uc010dgo.2_Missense_Mutation_p.E40D|ITGB4_uc002jpi.3_Missense_Mutation_p.E40D|ITGB4_uc010dgp.1_Missense_Mutation_p.E40D|ITGB4_uc002jpj.2_Missense_Mutation_p.E40D	p.E40D	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		3	307	+	all_cancers(13;1.5e-07)		40			PSI.|Extracellular (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.120G>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080229	0.36662	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.85556	-2.0;-2.0;-2.0	5.36	4.39	0.52855	Integrin beta subunit, N-terminal (2);	0.062956	0.64402	D	0.000008	D	0.84893	0.5573	L	0.31120	0.905	0.49798	D	0.999829	B;D;D;D	0.63880	0.207;0.984;0.993;0.993	B;P;P;D	0.65443	0.174;0.848;0.906;0.935	T	0.82719	-0.0318	10	0.36615	T	0.2	.	9.1964	0.37231	0.0768:0.1472:0.776:0.0	.	40;40;40;40	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	D	40	ENSP00000200181:E40D;ENSP00000344079:E40D;ENSP00000400217:E40D	ENSP00000200181:E40D	E	+	3	2	ITGB4	71234910	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	1.511000	0.35801	2.505000	0.84491	0.655000	0.94253	GAG		PASS	0.602	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			12	9	12	9	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13104999	13104999	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr18:13104999G>C	ENST00000325971.8	+	38	6773	c.5180G>C	c.(5179-5181)gGa>gCa	p.G1727A	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.G2323A|CEP192_ENST00000430049.2_Missense_Mutation_p.G1848A			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1727					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.G1727A(1)|p.G2323A(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATGAAAGTGGAGATGTTTTT	0.383																																						uc010xac.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6967-6969)GGA>GCA		centrosomal protein 192kDa							231.0	216.0	221.0					18																	13104999		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13104999G>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5180G>C	18.37:g.13104999G>C	ENSP00000317156:p.Gly1727Ala					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.G1848A|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.G745A|CEP192_uc002krw.2_Missense_Mutation_p.G472A|CEP192_uc002krx.2_Missense_Mutation_p.G327A|CEP192_uc002kry.2_RNA	p.G2323A	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			40	7048	+			2323					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6968G>C		.	.	.	.	.	.	.	.	.	.	G	20.8	4.053624	0.75960	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.07567	3.19;3.18;3.19	5.18	4.3	0.51218	.	0.181865	0.47093	D	0.000245	T	0.22322	0.0538	M	0.68593	2.085	0.51012	D	0.999904	D;D;D;D	0.64830	0.974;0.992;0.994;0.985	P;P;P;P	0.60541	0.811;0.876;0.814;0.747	T	0.00521	-1.1691	10	0.56958	D	0.05	-11.8374	12.1194	0.53883	0.0828:0.0:0.9172:0.0	.	1848;2323;327;925	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	A	2323;1727;1727;1848;327	ENSP00000427550:G2323A;ENSP00000317156:G1727A;ENSP00000389190:G1848A	ENSP00000317156:G1727A	G	+	2	0	CEP192	13094999	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.868000	0.48436	1.149000	0.42402	0.446000	0.29264	GGA		PASS	0.383	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		6	127	6	127	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34174837	34174837	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr18:34174837G>T	ENST00000359247.4	+	7	694	c.694G>T	c.(694-696)Gtc>Ttc	p.V232F	FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000257209.4_Missense_Mutation_p.V232F|FHOD3_ENST00000590592.1_Missense_Mutation_p.V232F|FHOD3_ENST00000445677.1_Missense_Mutation_p.V232F	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	232	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.V232F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AATTCAGGCTGTCACTGCTGT	0.517																																						uc002kzt.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(694-696)GTC>TTC		formin homology 2 domain containing 3							142.0	110.0	121.0					18																	34174837		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34174837G>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.694G>T	18.37:g.34174837G>T	ENSP00000352186:p.Val232Phe					FHOD3_uc002kzr.1_Missense_Mutation_p.V232F|FHOD3_uc002kzs.1_Missense_Mutation_p.V232F|FHOD3_uc002kzu.1_Missense_Mutation_p.V57F|FHOD3_uc010dmz.1_5'UTR	p.V232F	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			7	791	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	232			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.694G>T		.	.	.	.	.	.	.	.	.	.	G	12.74	2.028848	0.35797	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.26067	1.76;1.76;1.76	5.3	3.53	0.40419	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.115504	0.64402	D	0.000018	T	0.42877	0.1222	L	0.61218	1.895	0.22112	N	0.999351	D;P;P	0.69078	0.997;0.776;0.855	P;B;P	0.62885	0.908;0.435;0.747	T	0.25984	-1.0116	10	0.87932	D	0	.	11.0695	0.47995	0.1259:0.0:0.8741:0.0	.	232;232;232	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	F	232	ENSP00000257209:V232F;ENSP00000352186:V232F;ENSP00000411430:V232F	ENSP00000257209:V232F	V	+	1	0	FHOD3	32428835	1.000000	0.71417	0.521000	0.27850	0.050000	0.14768	3.158000	0.50723	0.734000	0.32515	0.655000	0.94253	GTC		PASS	0.517	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		3	42	3	42	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34205705	34205705	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr18:34205705C>G	ENST00000359247.4	+	10	1189	c.1189C>G	c.(1189-1191)Cgt>Ggt	p.R397G	FHOD3_ENST00000591635.1_Missense_Mutation_p.C71W|FHOD3_ENST00000257209.4_Missense_Mutation_p.R397G|FHOD3_ENST00000590592.1_Missense_Mutation_p.R397G|FHOD3_ENST00000445677.1_Missense_Mutation_p.R397G	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	397	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.R397G(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCGAGATCTGCGTGAAAAGTA	0.602																																						uc002kzt.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(1189-1191)CGT>GGT		formin homology 2 domain containing 3							117.0	121.0	120.0					18																	34205705		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34205705C>G	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1189C>G	18.37:g.34205705C>G	ENSP00000352186:p.Arg397Gly					FHOD3_uc002kzr.1_Missense_Mutation_p.R397G|FHOD3_uc002kzs.1_Missense_Mutation_p.R397G|FHOD3_uc002kzu.1_Missense_Mutation_p.R222G|FHOD3_uc010dmz.1_Missense_Mutation_p.R150G	p.R397G	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			10	1286	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	397			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.1189C>G		.	.	.	.	.	.	.	.	.	.	C	2.146	-0.395656	0.04899	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.20463	2.07;2.07;2.07	4.65	-3.66	0.04489	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.404099	0.29260	N	0.012680	T	0.06096	0.0158	N	0.08118	0	0.28360	N	0.920513	B;B;B;B	0.20368	0.044;0.026;0.0;0.0	B;B;B;B	0.17979	0.02;0.011;0.001;0.0	T	0.18745	-1.0327	10	0.22109	T	0.4	.	0.5699	0.00694	0.4332:0.148:0.1927:0.2261	.	397;397;397;397	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	G	397	ENSP00000257209:R397G;ENSP00000352186:R397G;ENSP00000411430:R397G	ENSP00000257209:R397G	R	+	1	0	FHOD3	32459703	1.000000	0.71417	0.313000	0.25210	0.083000	0.17756	1.729000	0.38115	-0.833000	0.04245	0.655000	0.94253	CGT		PASS	0.602	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		39	115	39	115	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34359421	34359421	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr18:34359421C>A	ENST00000359247.4	+	24	4197	c.4197C>A	c.(4195-4197)acC>acA	p.T1399T	FHOD3_ENST00000591635.1_Silent_p.T612T|FHOD3_ENST00000257209.4_Silent_p.T1416T|FHOD3_ENST00000590592.1_Silent_p.T1599T|FHOD3_ENST00000592128.1_Silent_p.T395T|FHOD3_ENST00000445677.1_Silent_p.T1378T|TPGS2_ENST00000590652.1_5'Flank	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1399					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.T1416T(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGCGAAGAACCCTGAAGAGCG	0.577																																						uc002kzt.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(4195-4197)ACC>ACA		formin homology 2 domain containing 3							84.0	82.0	83.0					18																	34359421		2203	4300	6503	SO:0001819	synonymous_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34359421C>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.4197C>A	18.37:g.34359421C>A						FHOD3_uc002kzs.1_Silent_p.T1416T|FHOD3_uc010dmz.1_Silent_p.T1131T|FHOD3_uc010dnb.1_Missense_Mutation_p.P337H	p.T1399T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			24	4294	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1399					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37	c.4197C>A																																																																																					PASS	0.577	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		4	64	4	64	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50977006	50977006	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr18:50977006C>A	ENST00000442544.2	+	23	3982	c.3366C>A	c.(3364-3366)acC>acA	p.T1122T	DCC_ENST00000581580.1_Silent_p.T757T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1122					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.T1122T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGATTTGCACCCGACGCTCTT	0.483																																						uc002lfe.1																			1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3364-3366)ACC>ACA		netrin receptor DCC precursor							110.0	90.0	97.0					18																	50977006		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50977006C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3366C>A	18.37:g.50977006C>A						DCC_uc010dpf.1_Silent_p.T757T	p.T1122T	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3953	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1122			Helical; (Potential).			Silent	SNP	ENST00000442544.2	37	c.3366C>A	CCDS11952.1																																																																																				PASS	0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		4	58	4	58	---	---	---	---
SERPINB4	6318	broad.mit.edu	37	18	61310651	61310651	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr18:61310651C>T	ENST00000341074.5	-	2	276	c.161G>A	c.(160-162)aGc>aAc	p.S54N	SERPINB4_ENST00000356424.6_Missense_Mutation_p.S54N	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	54					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S54N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGCTACCTTGCTAATTTGTTG	0.443																																						uc002ljf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(160-162)AGC>AAC		serine (or cysteine) proteinase inhibitor, clade							295.0	258.0	271.0					18																	61310651		2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61310651C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.161G>A	18.37:g.61310651C>T	ENSP00000343445:p.Ser54Asn					SERPINB4_uc002lje.2_Missense_Mutation_p.S54N|SERPINB4_uc002ljg.2_Intron	p.S54N	NM_002974	NP_002965	P48594	SPB4_HUMAN			2	247	-			54					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.161G>A	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.424|3.424	-0.117616|-0.117616	0.06838|0.06838	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000413673|ENST00000341074;ENST00000356424;ENST00000436264	.|D;D;D	.|0.84442	.|-1.85;-1.85;-1.85	3.76|3.76	-0.818|-0.818	0.10833|0.10833	.|Serpin domain (3);	.|3.108680	.|0.01804	.|N	.|0.033096	T|T	0.72020|0.72020	0.3409|0.3409	N|N	0.17345|0.17345	0.48|0.48	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.54036|0.54036	-0.8353|-0.8353	5|10	.|0.30078	.|T	.|0.28	.|.	2.4975|2.4975	0.04625|0.04625	0.1265:0.3857:0.2582:0.2296|0.1265:0.3857:0.2582:0.2296	.|.	.|54;54	.|P48594;Q9BYF7	.|SPB4_HUMAN;.	T|N	56|54	.|ENSP00000343445:S54N;ENSP00000348795:S54N;ENSP00000399796:S54N	.|ENSP00000343445:S54N	A|S	-|-	1|2	0|0	SERPINB4|SERPINB4	59461631|59461631	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.665000|-0.665000	0.05286|0.05286	-0.589000|-0.589000	0.05874|0.05874	-0.451000|-0.451000	0.05528|0.05528	GCA|AGC		PASS	0.443	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		13	119	13	119	---	---	---	---
GNA11	2767	broad.mit.edu	37	19	3113400	3113400	+	Missense_Mutation	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:3113400A>G	ENST00000078429.4	+	3	636	c.394A>G	c.(394-396)Atc>Gtc	p.I132V		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	132					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.I132V(1)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CGTCAGTGCCATCAAGACCCT	0.642			Mis		uveal melanoma																																	uc002lxd.2				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		1	Substitution - Missense(1)		lung(1)	eye(70)|skin(16)	86						c.(394-396)ATC>GTC		guanine nucleotide binding protein (G protein),							101.0	82.0	89.0					19																	3113400		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3113400A>G	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.394A>G	19.37:g.3113400A>G	ENSP00000078429:p.Ile132Val						p.I132V	NM_002067	NP_002058	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	3	636	+		Hepatocellular(1079;0.137)	132					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.394A>G	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	14.32	2.500162	0.44455	.	.	ENSG00000088256	ENST00000078429	D	0.90385	-2.66	4.31	4.31	0.51392	G protein alpha subunit, helical insertion (2);	0.000000	0.64402	D	0.000001	D	0.89019	0.6596	M	0.67517	2.055	0.52501	D	0.999955	B	0.06786	0.001	B	0.17722	0.019	D	0.86965	0.2094	10	0.66056	D	0.02	.	12.3281	0.55022	1.0:0.0:0.0:0.0	.	132	P29992	GNA11_HUMAN	V	132	ENSP00000078429:I132V	ENSP00000078429:I132V	I	+	1	0	GNA11	3064400	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.360000	0.79487	1.594000	0.50039	0.459000	0.35465	ATC		PASS	0.642	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		17	46	17	46	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5733877	5733877	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:5733877C>G	ENST00000381624.3	+	5	348	c.287C>G	c.(286-288)cCa>cGa	p.P96R	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	96					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.P96R(1)									GTCGGCGTACCAGAAGTGACA	0.343																																						uc002mda.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(286-288)CCA>CGA		transmembrane protein 146 precursor							147.0	143.0	144.0					19																	5733877		1885	4114	5999	SO:0001583	missense	257062					integral to membrane		g.chr19:5733877C>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.287C>G	19.37:g.5733877C>G	ENSP00000371037:p.Pro96Arg					TMEM146_uc010duj.1_5'UTR	p.P96R	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			5	348	+			96			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.287C>G	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	c	14.69	2.609395	0.46527	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.26957	1.7	4.37	4.37	0.52481	.	0.000000	0.31415	U	0.007693	T	0.47544	0.1451	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.50110	-0.8866	10	0.87932	D	0	.	12.7873	0.57514	0.0:1.0:0.0:0.0	.	96	Q86XM0	TM146_HUMAN	R	22;96	ENSP00000371037:P96R	ENSP00000371037:P96R	P	+	2	0	TMEM146	5684877	0.062000	0.20869	0.035000	0.18076	0.004000	0.04260	2.863000	0.48396	2.149000	0.67028	0.651000	0.88453	CCA		PASS	0.343	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		11	35	11	35	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8996331	8996331	+	Silent	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:8996331G>C	ENST00000397910.4	-	61	41444	c.41241C>G	c.(41239-41241)ctC>ctG	p.L13747L	MUC16_ENST00000380951.5_Silent_p.L388L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13749	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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.L432L(1)|p.L13747L(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						CATTGACAAAGAGGCTGTCGT	0.547																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(41239-41241)CTC>CTG		mucin 16							185.0	168.0	173.0					19																	8996331		2039	4189	6228	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8996331G>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.41241C>G	19.37:g.8996331G>C						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.L564L|MUC16_uc010xki.1_RNA	p.L13747L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			61	41445	-			13749	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 11.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.41241C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.455	-0.564034	0.03939	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.4	2.31	0.28768	.	.	.	.	.	T	0.43188	0.1236	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51593	-0.8686	3	.	.	.	-17.938	7.884	0.29640	0.0:0.0:0.7539:0.2461	.	.	.	.	C	587	.	.	S	-	2	0	MUC16	8857331	0.966000	0.33281	0.013000	0.15412	0.008000	0.06430	0.368000	0.20399	0.735000	0.32537	0.455000	0.32223	TCT		PASS	0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		32	150	32	150	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9063537	9063537	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:9063537G>T	ENST00000397910.4	-	3	24112	c.23909C>A	c.(23908-23910)cCt>cAt	p.P7970H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7972	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.P7970H(2)|p.P3603H(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						AGAAAAGGAAGGTCTAGTTTT	0.468																																						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.(23908-23910)CCT>CAT		mucin 16							86.0	84.0	85.0					19																	9063537		1972	4144	6116	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063537G>T	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.23909C>A	19.37:g.9063537G>T	ENSP00000381008:p.Pro7970His						p.P7970H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24113	-			7972			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23909C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.523	-0.097390	0.07010	.	.	ENSG00000181143	ENST00000397910	T	0.21543	2.0	2.48	1.41	0.22369	.	.	.	.	.	T	0.09335	0.0230	N	0.08118	0	.	.	.	B	0.30664	0.289	B	0.26614	0.071	T	0.16808	-1.0390	8	0.87932	D	0	.	5.0269	0.14389	0.1783:0.0:0.8217:0.0	.	7970	B5ME49	.	H	7970	ENSP00000381008:P7970H	ENSP00000381008:P7970H	P	-	2	0	MUC16	8924537	.	.	0.001000	0.08648	0.015000	0.08874	.	.	0.605000	0.29947	0.404000	0.27445	CCT		PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	41	4	41	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9069583	9069583	+	Missense_Mutation	SNP	G	G	T	rs368655863		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:9069583G>T	ENST00000397910.4	-	3	18066	c.17863C>A	c.(17863-17865)Ctc>Atc	p.L5955I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5957	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.L5955I(2)|p.L1588I(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						GTCACAGGGAGAGCAGAAGTG	0.493																																						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.(17863-17865)CTC>ATC		mucin 16							103.0	98.0	100.0					19																	9069583		1979	4151	6130	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069583G>T	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.17863C>A	19.37:g.9069583G>T	ENSP00000381008:p.Leu5955Ile						p.L5955I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18067	-			5957			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17863C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.675479	0.00751	.	.	ENSG00000181143	ENST00000397910	T	0.24350	1.86	1.42	-2.83	0.05769	.	.	.	.	.	T	0.12987	0.0315	N	0.14661	0.345	.	.	.	B	0.11235	0.004	B	0.08055	0.003	T	0.11842	-1.0571	8	0.87932	D	0	.	6.1725	0.20424	0.1503:0.5797:0.27:0.0	.	5955	B5ME49	.	I	5955	ENSP00000381008:L5955I	ENSP00000381008:L5955I	L	-	1	0	MUC16	8930583	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.498000	0.00512	-3.902000	0.00016	CTC		PASS	0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	69	8	69	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9070657	9070657	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:9070657C>A	ENST00000397910.4	-	3	16992	c.16789G>T	c.(16789-16791)Gtg>Ttg	p.V5597L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5599	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.V5597L(2)|p.V5597M(2)|p.V1230L(1)|p.V1230M(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						CCCTGAGACACGGTTGAATGA	0.532																																						uc002mkp.2																			6	Substitution - Missense(6)		lung(3)|kidney(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16789-16791)GTG>TTG		mucin 16							128.0	119.0	122.0					19																	9070657		1964	4154	6118	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070657C>A	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.16789G>T	19.37:g.9070657C>A	ENSP00000381008:p.Val5597Leu						p.V5597L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16993	-			5599			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16789G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.074	-0.190415	0.06299	.	.	ENSG00000181143	ENST00000397910	T	0.23552	1.9	1.67	-3.34	0.04943	.	.	.	.	.	T	0.11665	0.0284	N	0.14661	0.345	.	.	.	B	0.15930	0.015	B	0.14023	0.01	T	0.24835	-1.0149	8	0.87932	D	0	.	2.3336	0.04241	0.4071:0.2891:0.0:0.3038	.	5597	B5ME49	.	L	5597	ENSP00000381008:V5597L	ENSP00000381008:V5597L	V	-	1	0	MUC16	8931657	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.370000	0.07523	-1.104000	0.03015	-0.701000	0.03672	GTG		PASS	0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		32	89	32	89	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9073626	9073626	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:9073626C>A	ENST00000397910.4	-	3	14023	c.13820G>T	c.(13819-13821)aGc>aTc	p.S4607I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4609	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.S4607I(2)|p.S240I(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						CTGGAGGGTGCTGTTCTCTTT	0.493																																						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.(13819-13821)AGC>ATC		mucin 16							97.0	94.0	95.0					19																	9073626		1997	4173	6170	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073626C>A	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.13820G>T	19.37:g.9073626C>A	ENSP00000381008:p.Ser4607Ile						p.S4607I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	14024	-			4609			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13820G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.284	-0.364140	0.05103	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.63	0.527	0.17084	.	.	.	.	.	T	0.05090	0.0136	L	0.53249	1.67	.	.	.	D	0.62365	0.991	P	0.50231	0.635	T	0.30995	-0.9959	8	0.87932	D	0	.	4.2888	0.10867	0.0:0.7816:0.0:0.2184	.	4607	B5ME49	.	I	4607	ENSP00000381008:S4607I	ENSP00000381008:S4607I	S	-	2	0	MUC16	8934626	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.023000	0.13533	0.223000	0.20920	0.313000	0.20887	AGC		PASS	0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	44	12	44	---	---	---	---
ZNF559	84527	broad.mit.edu	37	19	9453161	9453161	+	Missense_Mutation	SNP	G	G	A	rs138021555	byFrequency	TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:9453161G>A	ENST00000393883.2	+	6	1682	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000446085.4_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R265Q|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R345Q|ZNF559_ENST00000587557.1_Missense_Mutation_p.R409Q	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	345					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.R345Q(2)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AAACACAGGCGAACTCACACT	0.413													G|||	16	0.00319489	0.0	0.0	5008	,	,		20828	0.0119		0.0	False		,,,				2504	0.0041					uc002mlg.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(1033-1035)CGA>CAA		zinc finger protein 559		G	,GLN/ARG,GLN/ARG,,,,,,,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	59.0	61.0		,1226,908,,,,,,,1034	-1.5	0.0	19	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense,missense,utr-3,utr-3,utr-3,utr-3,utr-3,intron,missense	ZNF559,ZNF559-ZNF177	NM_001172650.2,NM_001202406.1,NM_001202407.1,NM_001202408.1,NM_001202409.1,NM_001202410.1,NM_001202411.1,NM_001202412.1,NM_001202425.1,NM_032497.2	,43,43,,,,,,,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,probably-damaging,probably-damaging,,,,,,,probably-damaging	,409/603,303/497,,,,,,,345/539	9453161	2,13004	2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453161G>A	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1034G>A	19.37:g.9453161G>A	ENSP00000377461:p.Arg345Gln					ZNF559_uc002mlf.2_Missense_Mutation_p.R114Q|ZNF559_uc010dwl.1_Missense_Mutation_p.R114Q|ZNF559_uc010xkn.1_Missense_Mutation_p.R337Q|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.R409Q|ZNF559_uc010dwk.1_Missense_Mutation_p.R114Q|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.R345Q	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			7	1681	+			345			C2H2-type 7.		K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.1034G>A	CCDS12211.1	9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	G	13.91	2.377303	0.42105	2.27E-4	1.16E-4	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.02369	4.32;4.32	1.98	-1.46	0.08800	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	M	0.72118	2.19	0.09310	N	1	P;D;B	0.76494	0.866;0.999;0.21	B;P;B	0.51516	0.061;0.672;0.008	T	0.20438	-1.0275	9	0.66056	D	0.02	.	6.3446	0.21343	0.4228:0.0:0.5772:0.0	.	345;345;265	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	Q	345;265;345	ENSP00000442832:R265Q;ENSP00000377461:R345Q	ENSP00000325393:R345Q	R	+	2	0	ZNF559	9314161	0.000000	0.05858	0.000000	0.03702	0.455000	0.32408	-0.757000	0.04772	-0.312000	0.08741	-0.657000	0.03884	CGA		PASS	0.413	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		6	30	6	30	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10088368	10088368	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:10088368C>T	ENST00000264828.3	-	42	3113	c.3028G>A	c.(3028-3030)Ggt>Agt	p.G1010S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1010	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G1010S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCGCGCTCACCAGGGGAGCCC	0.582																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(3028-3030)GGT>AGT		collagen, type V, alpha 3 preproprotein							21.0	21.0	21.0					19																	10088368		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10088368C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3028G>A	19.37:g.10088368C>T	ENSP00000264828:p.Gly1010Ser						p.G1010S	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		42	3114	-			1010			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3028G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448160	0.63178	.	.	ENSG00000080573	ENST00000264828	D	0.96913	-4.17	4.84	4.84	0.62591	.	0.156433	0.42172	N	0.000752	D	0.98532	0.9510	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99429	1.0935	10	0.87932	D	0	.	15.4806	0.75524	0.0:1.0:0.0:0.0	.	1010	P25940	CO5A3_HUMAN	S	1010	ENSP00000264828:G1010S	ENSP00000264828:G1010S	G	-	1	0	COL5A3	9949368	1.000000	0.71417	0.568000	0.28447	0.032000	0.12392	7.069000	0.76755	2.516000	0.84829	0.655000	0.94253	GGT		PASS	0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		3	26	3	26	---	---	---	---
KRI1	65095	broad.mit.edu	37	19	10668287	10668287	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:10668287G>C	ENST00000312962.6	-	16	1595	c.1576C>G	c.(1576-1578)Ccc>Gcc	p.P526A	KRI1_ENST00000361821.5_Missense_Mutation_p.P522A	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	520						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.P526A(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AAGCGACAGGGCAGGTCGTCG	0.627																																						uc002moy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1576-1578)CCC>GCC		KRI1 homolog							194.0	149.0	164.0					19																	10668287		2203	4300	6503	SO:0001583	missense	65095							g.chr19:10668287G>C		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1576C>G	19.37:g.10668287G>C	ENSP00000320917:p.Pro526Ala					KRI1_uc002mow.1_Missense_Mutation_p.P145A|KRI1_uc002mox.1_Missense_Mutation_p.P522A	p.P526A	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		16	1585	-			526					Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.1576C>G	CCDS12242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.614461|4.614461	0.87359|0.87359	.|.	.|.	ENSG00000129347|ENSG00000129347	ENST00000541101|ENST00000312962;ENST00000361821;ENST00000539027	.|T;T;T	.|0.46451	.|3.0;2.8;0.87	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Kri1-like, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63581|0.63581	0.2523|0.2523	M|M	0.71920|0.71920	2.185|2.185	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.71674	.|0.996;0.998	.|D;D	.|0.67231	.|0.928;0.95	T|T	0.65681|0.65681	-0.6109|-0.6109	6|10	0.87932|0.54805	D|T	0|0.06	-29.0083|-29.0083	17.5242|17.5242	0.87795|0.87795	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|526;522	.|Q8N9T8;D3YTE0	.|KRI1_HUMAN;.	W|A	554|526;522;175	.|ENSP00000320917:P526A;ENSP00000355366:P522A;ENSP00000445789:P175A	ENSP00000445847:C554W|ENSP00000320917:P526A	C|P	-|-	3|1	2|0	KRI1|KRI1	10529287|10529287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.981000|7.981000	0.88123|0.88123	2.436000|2.436000	0.82500|0.82500	0.563000|0.563000	0.77884|0.77884	TGC|CCC		PASS	0.627	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		12	74	12	74	---	---	---	---
PODNL1	79883	broad.mit.edu	37	19	14046575	14046575	+	Missense_Mutation	SNP	C	C	T	rs150464916		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:14046575C>T	ENST00000339560.5	-	5	747	c.474G>A	c.(472-474)atG>atA	p.M158I	PODNL1_ENST00000254320.3_Missense_Mutation_p.M76I|PODNL1_ENST00000538371.2_Missense_Mutation_p.M156I|PODNL1_ENST00000538517.2_Intron	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	158	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)		p.M158I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GGAAGATCTCCATCACTTGGT	0.647																																						uc002mxr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(472-474)ATG>ATA		podocan-like 1 isoform 1			ILE/MET,,ILE/MET	1,4405	2.1+/-5.4	0,1,2202	29.0	31.0	31.0		468,,474	-1.9	1.0	19	dbSNP_134	31	0,8598		0,0,4299	no	missense,intron,missense	PODNL1	NM_001146254.1,NM_001146255.1,NM_024825.3	10,,10	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,,benign	156/511,,158/513	14046575	1,13003	2203	4299	6502	SO:0001583	missense	79883					proteinaceous extracellular matrix		g.chr19:14046575C>T	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.474G>A	19.37:g.14046575C>T	ENSP00000345175:p.Met158Ile					PODNL1_uc010xni.1_Missense_Mutation_p.M76I|PODNL1_uc010xnj.1_Missense_Mutation_p.M156I|PODNL1_uc002mxs.2_Intron	p.M158I	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		5	748	-			158			Leu-rich.|LRR 4.		B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	c.474G>A	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794783	0.50102	2.27E-4	0.0	ENSG00000132000	ENST00000538371;ENST00000339560;ENST00000254320	T;T;T	0.23754	1.89;5.55;1.93	4.97	-1.89	0.07689	.	0.568996	0.15844	N	0.241873	T	0.08537	0.0212	N	0.04508	-0.205	0.20403	N	0.999906	B;B;B	0.19817	0.039;0.029;0.017	B;B;B	0.17098	0.009;0.017;0.011	T	0.18053	-1.0349	10	0.66056	D	0.02	.	1.1045	0.01690	0.1529:0.3991:0.1499:0.2982	.	156;76;158	F5H7F9;B7Z3M0;Q6PEZ8	.;.;PONL1_HUMAN	I	156;158;76	ENSP00000442553:M156I;ENSP00000345175:M158I;ENSP00000254320:M76I	ENSP00000254320:M76I	M	-	3	0	PODNL1	13907575	0.001000	0.12720	0.985000	0.45067	0.810000	0.45777	-0.979000	0.03774	-0.159000	0.11021	0.479000	0.44913	ATG		PASS	0.647	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		6	12	6	12	---	---	---	---
OR7A10	390892	broad.mit.edu	37	19	14952633	14952633	+	Silent	SNP	C	C	T	rs556585216		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:14952633C>T	ENST00000248058.1	-	1	56	c.57G>A	c.(55-57)gaG>gaA	p.E19E		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E19E(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ATTCTGGTTCCTCTGAAATTC	0.458																																						uc002mzx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(55-57)GAG>GAA		olfactory receptor, family 7, subfamily A,							62.0	63.0	62.0					19																	14952633		2203	4300	6503	SO:0001819	synonymous_variant	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952633C>T		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.57G>A	19.37:g.14952633C>T							p.E19E	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			1	57	-	Ovarian(108;0.203)		19			Extracellular (Potential).		Q6IFP0|Q96R97	Silent	SNP	ENST00000248058.1	37	c.57G>A	CCDS32936.1																																																																																				PASS	0.458	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		5	48	5	48	---	---	---	---
TMEM161A	54929	broad.mit.edu	37	19	19243982	19243982	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:19243982G>A	ENST00000162044.9	-	3	209	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	TMEM161A_ENST00000587583.2_Missense_Mutation_p.R49W|TMEM161A_ENST00000592147.1_5'UTR|TMEM161A_ENST00000450333.2_Missense_Mutation_p.R49W	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	49					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)		p.R49W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GCCAGGGCCCGAAGCTCCTCC	0.657																																						uc002nlg.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(145-147)CGG>TGG		transmembrane protein 161A precursor							36.0	39.0	38.0					19																	19243982		2203	4300	6503	SO:0001583	missense	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19243982G>A	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.145C>T	19.37:g.19243982G>A	ENSP00000162044:p.Arg49Trp					TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.R49W|TMEM161A_uc002nli.2_Missense_Mutation_p.R49W|TMEM161A_uc002nlj.2_5'UTR	p.R49W	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		3	175	-			49			Extracellular (Potential).		B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	c.145C>T	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308461	0.40895	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.35	4.35	0.52113	.	0.167016	0.49916	D	0.000121	T	0.78123	0.4234	M	0.76170	2.325	0.47862	D	0.999532	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.986;0.999	T	0.81600	-0.0859	9	0.87932	D	0	-26.4598	14.7363	0.69419	0.0:0.0:1.0:0.0	.	49;49;49	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	W	49	.	ENSP00000162044:R49W	R	-	1	2	TMEM161A	19104982	0.067000	0.21026	0.894000	0.35097	0.068000	0.16541	1.213000	0.32407	2.140000	0.66376	0.563000	0.77884	CGG		PASS	0.657	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		12	47	12	47	---	---	---	---
GATAD2A	54815	broad.mit.edu	37	19	19612825	19612825	+	Silent	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:19612825C>A	ENST00000360315.3	+	10	1860	c.1548C>A	c.(1546-1548)cgC>cgA	p.R516R	GATAD2A_ENST00000252577.5_Intron|GATAD2A_ENST00000358713.3_Silent_p.R516R|GATAD2A_ENST00000429563.2_Intron|GATAD2A_ENST00000537887.1_Silent_p.R145R|GATAD2A_ENST00000404158.1_Silent_p.R517R	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	516					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R516R(1)|p.R373R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GAGAGGCCCGCGACTGGAGTA	0.662																																						uc010xqt.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1546-1548)CGC>CGA		GATA zinc finger domain containing 2A							53.0	55.0	54.0					19																	19612825		2203	4300	6503	SO:0001819	synonymous_variant	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19612825C>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1548C>A	19.37:g.19612825C>A						GATAD2A_uc010xqu.1_Silent_p.R145R|GATAD2A_uc010xqv.1_Silent_p.R536R|GATAD2A_uc010xqw.1_Intron	p.R516R	NM_017660	NP_060130	Q86YP4	P66A_HUMAN			10	1860	+			516					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	ENST00000360315.3	37	c.1548C>A	CCDS12402.2																																																																																				PASS	0.662	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		3	64	3	64	---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19654652	19654652	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:19654652C>A	ENST00000291495.5	+	8	1383	c.1298C>A	c.(1297-1299)gCc>gAc	p.A433D	CILP2_ENST00000586018.1_Missense_Mutation_p.A439D	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	433						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.A433D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGCGGGGACGCCAGCTCCCGC	0.682																																						uc002nmv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1297-1299)GCC>GAC		cartilage intermediate layer protein 2							44.0	45.0	45.0					19																	19654652		2202	4300	6502	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654652C>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1298C>A	19.37:g.19654652C>A	ENSP00000291495:p.Ala433Asp					CILP2_uc002nmw.3_Missense_Mutation_p.A439D	p.A433D	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1383	+			433					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1298C>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	7.127	0.579039	0.13686	.	.	ENSG00000160161	ENST00000291495	T	0.52526	0.66	4.21	0.612	0.17591	.	1.235380	0.05557	N	0.568421	T	0.33702	0.0872	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.20538	-1.0272	10	0.30854	T	0.27	-7.2146	5.3121	0.15835	0.0:0.6285:0.1691:0.2023	.	433;433	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	D	433	ENSP00000291495:A433D	ENSP00000291495:A433D	A	+	2	0	CILP2	19515652	0.000000	0.05858	0.001000	0.08648	0.370000	0.29829	-0.684000	0.05173	0.278000	0.22164	-0.465000	0.05216	GCC		PASS	0.682	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		8	55	8	55	---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22574571	22574571	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:22574571G>T	ENST00000357774.5	-	4	1587	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	489					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.P489H(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACATTTGTAGGGCTTCTCTCC	0.393																																						uc002nqt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1465-1467)CCC>CAC		zinc finger protein 98							75.0	68.0	70.0					19																	22574571		2183	4274	6457	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574571G>T		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1466C>A	19.37:g.22574571G>T	ENSP00000350418:p.Pro489His						p.P489H	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	1588	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	489						Missense_Mutation	SNP	ENST00000357774.5	37	c.1466C>A	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	8.216	0.801471	0.16397	.	.	ENSG00000197360	ENST00000357774	T	0.17528	2.27	1.26	-2.53	0.06326	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42630	0.1211	M	0.91038	3.17	0.30004	N	0.81575	D	0.89917	1.0	D	0.79784	0.993	T	0.36089	-0.9762	9	0.72032	D	0.01	.	6.8296	0.23902	0.2748:0.0:0.7252:0.0	.	489	A6NK75	ZNF98_HUMAN	H	489	ENSP00000350418:P489H	ENSP00000350418:P489H	P	-	2	0	ZNF98	22366411	0.992000	0.36948	0.001000	0.08648	0.024000	0.10985	2.245000	0.43133	-0.846000	0.04174	-0.734000	0.03567	CCC		PASS	0.393	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		8	73	8	73	---	---	---	---
ZNF681	148213	broad.mit.edu	37	19	23926986	23926986	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:23926986C>A	ENST00000402377.3	-	4	1507	c.1366G>T	c.(1366-1368)Ggg>Tgg	p.G456W	ZNF681_ENST00000395385.3_Missense_Mutation_p.G387W	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	456					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.G387W(1)|p.G456W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGCTTTCCCACATTCTTCA	0.363																																						uc002nrk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1366-1368)GGG>TGG		zinc finger protein 681							52.0	54.0	53.0					19																	23926986		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23926986C>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1366G>T	19.37:g.23926986C>A	ENSP00000384000:p.Gly456Trp					ZNF681_uc002nrl.3_Missense_Mutation_p.G387W|ZNF681_uc002nrj.3_Missense_Mutation_p.G387W	p.G456W	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			4	1508	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	456			C2H2-type 11.		B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1366G>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	12.99	2.102076	0.37048	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.58940	0.3;0.3	1.51	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77731	0.4174	M	0.91663	3.23	0.26413	N	0.976228	D	0.89917	1.0	D	0.97110	1.0	T	0.64685	-0.6349	9	0.87932	D	0	.	8.4797	0.33034	0.0:1.0:0.0:0.0	.	456	Q96N22	ZN681_HUMAN	W	456;387	ENSP00000384000:G456W;ENSP00000378783:G387W	ENSP00000378783:G387W	G	-	1	0	ZNF681	23718826	1.000000	0.71417	0.299000	0.25016	0.048000	0.14542	2.688000	0.46984	0.798000	0.33994	0.313000	0.20887	GGG		PASS	0.363	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		9	23	9	23	---	---	---	---
CCNE1	898	broad.mit.edu	37	19	30303902	30303902	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:30303902G>T	ENST00000262643.3	+	4	417	c.138G>T	c.(136-138)atG>atT	p.M46I	CCNE1_ENST00000444983.2_Missense_Mutation_p.M31I|CCNE1_ENST00000357943.5_Missense_Mutation_p.M46I	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	46					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)	p.M46I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATGAAGAAATGGCCAAAATCG	0.552			A		serous ovarian																																	uc002nsn.2				Dom	yes		19	19q12	898		cyclin E1			E					1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(136-138)ATG>ATT		cyclin E1 isoform 1							80.0	84.0	83.0					19																	30303902		2203	4300	6503	SO:0001583	missense	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30303902G>T	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.138G>T	19.37:g.30303902G>T	ENSP00000262643:p.Met46Ile					CCNE1_uc002nso.2_Missense_Mutation_p.M31I	p.M46I	NM_001238	NP_001229	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		4	321	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		46					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	c.138G>T	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345255	0.05208	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.39056	2.09;1.1;2.11	4.58	-0.263	0.12954	.	0.669254	0.14701	N	0.303556	T	0.09992	0.0245	N	0.00538	-1.39	0.22954	N	0.998516	B	0.02656	0.0	B	0.01281	0.0	T	0.37314	-0.9711	10	0.09843	T	0.71	.	6.1335	0.20219	0.0:0.1667:0.4067:0.4266	.	46	P24864	CCNE1_HUMAN	I	46;46;31	ENSP00000262643:M46I;ENSP00000350625:M46I;ENSP00000410179:M31I	ENSP00000262643:M46I	M	+	3	0	CCNE1	34995742	0.072000	0.21174	0.996000	0.52242	0.902000	0.53008	-0.886000	0.04157	0.208000	0.20626	-0.397000	0.06425	ATG		PASS	0.552	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		27	59	27	59	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31770449	31770449	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:31770449G>C	ENST00000240587.4	-	2	577	c.250C>G	c.(250-252)Cga>Gga	p.R84G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	84					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R84G(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCAGCCATTCGGTCACTGGTC	0.587																																						uc002nsy.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(250-252)CGA>GGA		zinc finger protein 537							69.0	68.0	69.0					19																	31770449		2021	4176	6197	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770449G>C	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.250C>G	19.37:g.31770449G>C	ENSP00000240587:p.Arg84Gly						p.R84G	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	315	-	Esophageal squamous(110;0.226)		84					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.250C>G	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095683	0.56075	.	.	ENSG00000121297	ENST00000240587	T	0.14022	2.54	5.92	5.92	0.95590	.	0.000000	0.64402	U	0.000006	T	0.34193	0.0889	L	0.46157	1.445	0.58432	D	0.999999	D	0.63880	0.993	D	0.74023	0.982	T	0.00542	-1.1680	10	0.62326	D	0.03	-12.0837	20.3116	0.98642	0.0:0.0:1.0:0.0	.	84	Q63HK5	TSH3_HUMAN	G	84	ENSP00000240587:R84G	ENSP00000240587:R84G	R	-	1	2	TSHZ3	36462289	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.129000	0.77225	2.793000	0.96121	0.650000	0.86243	CGA		PASS	0.587	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	44	7	44	---	---	---	---
IFNL3	282617	broad.mit.edu	37	19	39735108	39735108	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:39735108G>C	ENST00000413851.2	-	2	245	c.207C>G	c.(205-207)tgC>tgG	p.C69W	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	69					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.C69W(1)									AGCGGCACTTGCAGTCCTTCA	0.632																																						uc010xut.1																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)TGC>TGG		interleukin 28B							21.0	30.0	27.0					19																	39735108		2197	4292	6489	SO:0001583	missense	282617				response to virus	extracellular space	cytokine activity	g.chr19:39735108G>C	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.207C>G	19.37:g.39735108G>C	ENSP00000409000:p.Cys69Trp					IL28B_uc010xuu.1_Missense_Mutation_p.C69W	p.C69W	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	211	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		69					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.207C>G	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	G	6.846	0.525342	0.13066	.	.	ENSG00000197110	ENST00000413851	T	0.27557	1.66	3.21	-6.41	0.01938	.	3.270790	0.01250	N	0.008844	T	0.06962	0.0177	N	0.00204	-1.855	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31223	-0.9951	10	0.30078	T	0.28	2.3557	6.3358	0.21294	0.2507:0.401:0.3483:0.0	.	69	Q8IZI9	IL28B_HUMAN	W	69	ENSP00000409000:C69W	ENSP00000409000:C69W	C	-	3	2	IL28B	44426948	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	-0.549000	0.06041	-1.107000	0.03004	0.205000	0.17691	TGC		PASS	0.632	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		8	16	8	16	---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40316498	40316498	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:40316498C>A	ENST00000593685.1	-	11	2215	c.1747G>T	c.(1747-1749)Gcc>Tcc	p.A583S	DYRK1B_ENST00000323039.5_Missense_Mutation_p.A583S|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A555S|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A543S|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A555S			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	583					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.A555S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TGCTGGGGGGCAGGCGCTGGG	0.697																																						uc002omj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7						c.(1747-1749)GCC>TCC		dual-specificity tyrosine-(Y)-phosphorylation							12.0	15.0	14.0					19																	40316498		2147	4197	6344	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316498C>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1747G>T	19.37:g.40316498C>A	ENSP00000469863:p.Ala583Ser					DYRK1B_uc002omi.2_Missense_Mutation_p.A555S|DYRK1B_uc002omk.2_Missense_Mutation_p.A543S	p.A583S	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2027	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		583					O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.1747G>T	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839346	0.51057	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.56941	0.43;0.56;0.49	5.15	1.69	0.24217	.	0.478777	0.20745	N	0.086467	T	0.24699	0.0599	N	0.08118	0	0.29932	N	0.821786	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.06215	-1.0839	10	0.31617	T	0.26	.	3.082	0.06265	0.1505:0.4652:0.2829:0.1013	.	543;583;555	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	S	583;555;543	ENSP00000312789:A583S;ENSP00000221803:A555S;ENSP00000403182:A543S	ENSP00000312789:A583S	A	-	1	0	DYRK1B	45008338	0.930000	0.31532	1.000000	0.80357	0.987000	0.75469	0.903000	0.28475	1.146000	0.42352	0.462000	0.41574	GCC		PASS	0.697	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		7	30	7	30	---	---	---	---
PLD3	23646	broad.mit.edu	37	19	40876045	40876045	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:40876045G>A	ENST00000409587.1	+	8	976	c.579G>A	c.(577-579)caG>caA	p.Q193Q	PLD3_ENST00000409419.1_Silent_p.Q193Q|PLD3_ENST00000409281.1_Silent_p.Q193Q|PLD3_ENST00000356508.5_Silent_p.Q193Q|PLD3_ENST00000409735.4_Silent_p.Q193Q			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	193					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)	p.Q140Q(1)|p.Q193Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TGGACATGCAGAAGCTGACCC	0.642																																						uc002onm.3																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(577-579)CAG>CAA		phospholipase D3							83.0	64.0	71.0					19																	40876045		2203	4300	6503	SO:0001819	synonymous_variant	23646				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40876045G>A	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.579G>A	19.37:g.40876045G>A						PLD3_uc002onj.3_Silent_p.Q193Q|PLD3_uc002onk.3_Silent_p.Q193Q|PLD3_uc002onl.3_Silent_p.Q193Q|PLD3_uc002onn.2_Silent_p.Q193Q	p.Q193Q	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		8	977	+			193			Lumenal (Potential).		Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.579G>A	CCDS33027.1																																																																																				PASS	0.642	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		5	29	5	29	---	---	---	---
GRIK5	2901	broad.mit.edu	37	19	42557753	42557753	+	Splice_Site	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:42557753C>A	ENST00000262895.3	-	10	1269		c.e10+1		GRIK5_ENST00000593562.1_Splice_Site|GRIK5_ENST00000301218.4_Splice_Site	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5						cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.?(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GGGCCACTCACCAGGATGGTT	0.622																																						uc002osj.1																			2	Unknown(2)		lung(2)		0						c.e10+1		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						91.0	74.0	80.0					19																	42557753		2203	4300	6503	SO:0001630	splice_region_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42557753C>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1269+1G>T	19.37:g.42557753C>A						GRIK5_uc010eib.1_Splice_Site_p.L342_splice	p.L423_splice	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			10	1304	-		Prostate(69;0.059)						Q8WWG8	Splice_Site	SNP	ENST00000262895.3	37	c.1269_splice	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727984	0.89390	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1779	0.89767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIK5	47249593	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.367000	0.79558	2.582000	0.87167	0.655000	0.94253	.		PASS	0.622	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1		Intron	27	30	27	30	---	---	---	---
CD177	57126	broad.mit.edu	37	19	43865645	43865645	+	RNA	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:43865645T>A	ENST00000607109.1	-	0	300				CD177_ENST00000378009.4_RNA|CD177_ENST00000607517.1_RNA																							GTGCAGCCCCTTGGAACCTGT	0.597																																						uc002owi.2																			0				central_nervous_system(1)	1						c.(994-996)CTT>CAT		CD177 molecule precursor							19.0	25.0	23.0					19																	43865645		1805	4039	5844			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43865645T>A																													19.37:g.43865645T>A						CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	p.L332H	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			9	1037	+		Prostate(69;0.00682)	332			UPAR/Ly6 2.			Missense_Mutation	SNP	ENST00000607109.1	37	c.995T>A																																																																																					PASS	0.597	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1			8	37	8	37	---	---	---	---
ETHE1	23474	broad.mit.edu	37	19	44011035	44011035	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:44011035G>A	ENST00000292147.2	-	7	798	c.732C>T	c.(730-732)aaC>aaT	p.N244N	PHLDB3_ENST00000292140.5_5'Flank|PHLDB3_ENST00000599242.1_5'Flank	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	244					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)	p.N244N(1)		central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CACAGCGCATGTTGGCTGGAA	0.522																																						uc002owp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)AAC>AAT		ETHE1 protein precursor							97.0	90.0	92.0					19																	44011035		2203	4300	6503	SO:0001819	synonymous_variant	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44011035G>A		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.732C>T	19.37:g.44011035G>A						PHLDB3_uc002own.3_5'Flank|PHLDB3_uc002owo.2_5'Flank	p.N244N	NM_014297	NP_055112	O95571	ETHE1_HUMAN			7	799	-		Prostate(69;0.0153)	244					Q96HR0|Q9H001	Silent	SNP	ENST00000292147.2	37	c.732C>T	CCDS12622.1																																																																																				PASS	0.522	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		31	54	31	54	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46308014	46308014	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:46308014G>A	ENST00000221538.3	-	3	1291	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	RSPH6A_ENST00000597055.1_Silent_p.V383V|RSPH6A_ENST00000600188.1_Silent_p.V119V	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	383	Glu-rich.					intracellular (GO:0005622)		p.V383V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						gcgcctccATGACCTCGCCAC	0.652																																						uc002pdm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1147-1149)GTC>GTT		radial spokehead-like 1							78.0	65.0	70.0					19																	46308014		2203	4300	6503	SO:0001819	synonymous_variant	81492					intracellular		g.chr19:46308014G>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1149C>T	19.37:g.46308014G>A						RSPH6A_uc002pdl.2_Silent_p.V119V	p.V383V	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			3	1292	-			383			Glu-rich.		Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	c.1149C>T	CCDS12675.1																																																																																				PASS	0.652	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			10	8	10	8	---	---	---	---
PTGIR	5739	broad.mit.edu	37	19	47127253	47127253	+	Missense_Mutation	SNP	C	C	G	rs199787627		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:47127253C>G	ENST00000291294.2	-	2	363	c.230G>C	c.(229-231)cGc>cCc	p.R77P	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.R77P|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	77					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R77P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GGAGCTGTTGCGCGCATAGGC	0.716																																						uc002pex.2																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)CGC>CCC		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)						9.0	11.0	10.0					19																	47127253		2131	4121	6252	SO:0001583	missense	5739				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47127253C>G		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.230G>C	19.37:g.47127253C>G	ENSP00000291294:p.Arg77Pro						p.R77P	NM_000960	NP_000951	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	2	343	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	77			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000291294.2	37	c.230G>C	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593503	0.66219	.	.	ENSG00000160013	ENST00000291294	T	0.37235	1.21	4.73	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.642217	0.15205	N	0.274779	T	0.47284	0.1437	L	0.49126	1.545	0.32222	N	0.575149	D	0.76494	0.999	D	0.70227	0.968	T	0.49447	-0.8939	10	0.34782	T	0.22	-12.6461	7.0142	0.24879	0.0:0.8748:0.0:0.1252	.	77	P43119	PI2R_HUMAN	P	77	ENSP00000291294:R77P	ENSP00000291294:R77P	R	-	2	0	PTGIR	51819093	0.009000	0.17119	1.000000	0.80357	0.987000	0.75469	-0.026000	0.12392	2.451000	0.82905	0.563000	0.77884	CGC		PASS	0.716	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			2	1	2	1	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	49004555	49004555	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:49004555C>T	ENST00000600059.1	-	9	1213	c.986G>A	c.(985-987)cGc>cAc	p.R329H	LMTK3_ENST00000270238.3_Missense_Mutation_p.R358H			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	329	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R358H(1)|p.R344H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTTGCTCTCGCGGCTCTGGTC	0.657																																						uc002pjk.2																			2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)	6						c.(1072-1074)CGC>CAC		lemur tyrosine kinase 3							49.0	56.0	54.0					19																	49004555		1915	4120	6035	SO:0001583	missense	114783							g.chr19:49004555C>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.986G>A	19.37:g.49004555C>T	ENSP00000472020:p.Arg329His						p.R358H	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	10	1073	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.1073G>A		.	.	.	.	.	.	.	.	.	.	C	16.86	3.239041	0.58995	.	.	ENSG00000142235	ENST00000270238	D	0.82619	-1.63	4.13	1.84	0.25277	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.226096	0.28098	N	0.016611	T	0.68366	0.2993	N	0.10707	0.03	0.29734	N	0.837652	D	0.53151	0.958	P	0.48921	0.595	T	0.66424	-0.5927	10	0.72032	D	0.01	.	4.828	0.13427	0.0:0.6051:0.195:0.1999	.	329	Q96Q04	LMTK3_HUMAN	H	358	ENSP00000270238:R358H	ENSP00000270238:R358H	R	-	2	0	LMTK3	53696367	1.000000	0.71417	0.809000	0.32408	0.974000	0.67602	3.673000	0.54591	0.836000	0.34901	0.449000	0.29647	CGC		PASS	0.657	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		22	98	22	98	---	---	---	---
PIH1D1	55011	broad.mit.edu	37	19	49952853	49952853	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:49952853G>A	ENST00000262265.5	-	3	451	c.216C>T	c.(214-216)tcC>tcT	p.S72S	PIH1D1_ENST00000596049.1_Silent_p.S72S|PIH1D1_ENST00000602226.1_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	72					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)		p.S72S(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGATAGAGGGGGAGTGGCAGA	0.547																																						uc002pns.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(214-216)TCC>TCT		NOP17							128.0	115.0	119.0					19																	49952853		2203	4300	6503	SO:0001819	synonymous_variant	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49952853G>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.216C>T	19.37:g.49952853G>A						PIH1D1_uc010yap.1_Missense_Mutation_p.P103S|PIH1D1_uc010yaq.1_Silent_p.S72S	p.S72S	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	3	500	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	72					B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	37	c.216C>T	CCDS12765.1																																																																																				PASS	0.547	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		17	56	17	56	---	---	---	---
SIGLEC12	89858	broad.mit.edu	37	19	52004699	52004699	+	Missense_Mutation	SNP	C	C	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:52004699C>T	ENST00000291707.3	-	1	344	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	97	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G97R(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTGGGTCCCCAAGGAGGTGG	0.537																																						uc002pwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(289-291)GGG>AGG		sialic acid binding immunoglobulin-like							164.0	145.0	152.0					19																	52004699		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004699C>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.289G>A	19.37:g.52004699C>T	ENSP00000291707:p.Gly97Arg					SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	p.G97R	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	345	-		all_neural(266;0.0199)	97			Ig-like V-type 1.|Extracellular (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.289G>A	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	14.22	2.470625	0.43942	.	.	ENSG00000254521	ENST00000291707	T	0.20881	2.04	2.42	1.31	0.21738	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54240	0.1846	H	0.96301	3.8	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.41787	-0.9489	9	0.87932	D	0	.	6.7426	0.23445	0.0:0.7041:0.2959:0.0	.	97	Q96PQ1	SIG12_HUMAN	R	97	ENSP00000291707:G97R	ENSP00000291707:G97R	G	-	1	0	SIGLEC12	56696511	0.001000	0.12720	0.004000	0.12327	0.293000	0.27360	0.277000	0.18734	0.192000	0.20272	0.395000	0.25975	GGG		PASS	0.537	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		72	145	72	145	---	---	---	---
SIGLEC12	89858	broad.mit.edu	37	19	52004757	52004757	+	Silent	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:52004757G>T	ENST00000291707.3	-	1	286	c.231C>A	c.(229-231)gcC>gcA	p.A77A	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	77	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A77A(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTTGTTTGTGGCCACTGGAA	0.577																																						uc002pwx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(229-231)GCC>GCA		sialic acid binding immunoglobulin-like							134.0	113.0	120.0					19																	52004757		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004757G>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.231C>A	19.37:g.52004757G>T						SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	p.A77A	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	287	-		all_neural(266;0.0199)	77			Ig-like V-type 1.|Extracellular (Potential).		Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.231C>A	CCDS12833.1																																																																																				PASS	0.577	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		13	99	13	99	---	---	---	---
ZNF808	388558	broad.mit.edu	37	19	53050785	53050785	+	Missense_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:53050785T>A	ENST00000359798.4	+	4	264	c.84T>A	c.(82-84)gaT>gaA	p.D28E		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D28E(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CTTTCAGGGATGTGGCTATAG	0.423																																						uc010epq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)GAT>GAA		zinc finger protein 808							121.0	128.0	126.0					19																	53050785		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53050785T>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.84T>A	19.37:g.53050785T>A	ENSP00000352846:p.Asp28Glu					ZNF808_uc002pzq.2_Intron	p.D28E	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	4	261	+			28			KRAB.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.84T>A	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.861414	0.51482	.	.	ENSG00000198482	ENST00000359798;ENST00000465448;ENST00000461779;ENST00000461321	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	2.29	1.24	0.21308	Krueppel-associated box (4);	.	.	.	.	T	0.36690	0.0976	M	0.93808	3.46	0.20403	N	0.99991	D	0.89917	1.0	D	0.97110	1.0	T	0.11227	-1.0596	9	0.54805	T	0.06	.	5.3621	0.16093	0.0:0.2923:0.0:0.7077	.	28	Q8N4W9	ZN808_HUMAN	E	28	ENSP00000352846:D28E;ENSP00000419291:D28E;ENSP00000417727:D28E;ENSP00000418696:D28E	ENSP00000352846:D28E	D	+	3	2	ZNF808	57742597	0.964000	0.33143	0.053000	0.19242	0.253000	0.25986	-0.803000	0.04540	0.040000	0.15660	0.147000	0.16070	GAT		PASS	0.423	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		37	178	37	178	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55144079	55144079	+	Missense_Mutation	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:55144079G>T	ENST00000396331.1	+	7	1183	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W	LILRB1_ENST00000396315.1_Missense_Mutation_p.G276W|LILRB1_ENST00000448689.1_Missense_Mutation_p.G276W|LILRB1_ENST00000396327.3_Missense_Mutation_p.G276W|LILRB1_ENST00000396321.2_Missense_Mutation_p.G276W|LILRB1_ENST00000418536.2_Missense_Mutation_p.G276W|LILRB1_ENST00000434867.2_Missense_Mutation_p.G276W|LILRB1_ENST00000396317.1_Missense_Mutation_p.G276W|LILRB1_ENST00000324602.7_Missense_Mutation_p.G276W|LILRB1_ENST00000427581.2_Missense_Mutation_p.G312W|LILRB1_ENST00000396332.4_Missense_Mutation_p.G276W	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	276	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.G276W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCCCAGGCTGGGCTCTCCCA	0.612										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(826-828)GGG>TGG		leukocyte immunoglobulin-like receptor,							68.0	72.0	71.0					19																	55144079		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144079G>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.826G>T	19.37:g.55144079G>T	ENSP00000379622:p.Gly276Trp	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.G276W|LILRB1_uc002qgk.2_Missense_Mutation_p.G276W|LILRB1_uc002qgm.2_Missense_Mutation_p.G276W|LILRB1_uc010erq.2_Missense_Mutation_p.G276W|LILRB1_uc010err.2_RNA	p.G276W	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1166	+			276			Ig-like C2-type 3.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.826G>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900116	0.33535	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00864	5.6;5.6;5.6;5.6;5.6;5.6;5.6;5.6;5.6;5.6;5.6	2.02	0.944	0.19537	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.470464	0.17709	N	0.164649	T	0.04182	0.0116	M	0.85777	2.775	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;1.0	T	0.20571	-1.0271	10	0.87932	D	0	.	3.9438	0.09339	0.2305:0.0:0.7695:0.0	.	276;276;276;276;276	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	W	276;276;276;276;276;276;276;276;312;276;276	ENSP00000379614:G276W;ENSP00000391514:G276W;ENSP00000409968:G276W;ENSP00000379622:G276W;ENSP00000379618:G276W;ENSP00000315997:G276W;ENSP00000405243:G276W;ENSP00000379623:G276W;ENSP00000395004:G312W;ENSP00000379610:G276W;ENSP00000379608:G276W	ENSP00000315997:G276W	G	+	1	0	LILRB1	59835891	0.002000	0.14202	0.002000	0.10522	0.155000	0.21991	0.637000	0.24659	1.136000	0.42199	0.184000	0.17185	GGG		PASS	0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			36	52	36	52	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56539855	56539855	+	Silent	SNP	A	A	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:56539855A>G	ENST00000390649.3	+	7	2256	c.2256A>G	c.(2254-2256)gcA>gcG	p.A752A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	752					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.A752A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCGCTGAGGCATGTCCTGTGG	0.517																																						uc002qmj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2254-2256)GCA>GCG		NACHT, LRR and PYD containing protein 5							140.0	141.0	141.0					19																	56539855		2028	4195	6223	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539855A>G	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2256A>G	19.37:g.56539855A>G						NLRP5_uc002qmi.2_Silent_p.A733A	p.A752A	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2256	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	752			LRR 2.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2256A>G	CCDS12938.1																																																																																				PASS	0.517	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		52	223	52	223	---	---	---	---
ZNF460	10794	broad.mit.edu	37	19	57802733	57802733	+	Missense_Mutation	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:57802733G>A	ENST00000360338.3	+	3	1146	c.824G>A	c.(823-825)aGt>aAt	p.S275N	ZNF460_ENST00000537645.1_Missense_Mutation_p.S234N	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	275					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.S275N(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGGGTTCACAGTGGAGAGAAG	0.502																																						uc002qog.2																			1	Substitution - Missense(1)		lung(1)		0						c.(823-825)AGT>AAT		zinc finger protein 460							86.0	79.0	82.0					19																	57802733		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802733G>A	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.824G>A	19.37:g.57802733G>A	ENSP00000353491:p.Ser275Asn					ZNF460_uc010ygv.1_Missense_Mutation_p.S234N	p.S275N	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1146	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	275					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.824G>A	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509794	0.44660	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.19394	2.15;2.15	1.83	-3.66	0.04489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17109	0.0411	L	0.48877	1.53	0.19300	N	0.999976	P	0.39282	0.666	B	0.38194	0.267	T	0.11641	-1.0579	9	0.87932	D	0	.	8.3005	0.32012	0.0:0.5846:0.2965:0.1189	.	275	Q14592	ZN460_HUMAN	N	234;275	ENSP00000446167:S234N;ENSP00000353491:S275N	ENSP00000353491:S275N	S	+	2	0	ZNF460	62494545	0.001000	0.12720	0.014000	0.15608	0.880000	0.50808	-0.178000	0.09782	-1.145000	0.02858	-0.182000	0.12963	AGT		PASS	0.502	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		41	59	41	59	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58564832	58564832	+	Missense_Mutation	SNP	T	T	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:58564832T>G	ENST00000282326.1	+	6	887	c.640T>G	c.(640-642)Tgg>Ggg	p.W214G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	214					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.W214G(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCGAGTATCTGGGACGAGCC	0.632																																						uc002qrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(640-642)TGG>GGG		zinc finger and SCAN domain containing 1							51.0	54.0	53.0					19																	58564832		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58564832T>G	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.640T>G	19.37:g.58564832T>G	ENSP00000282326:p.Trp214Gly						p.W214G	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	887	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	214					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.640T>G	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	T	8.488	0.861288	0.17178	.	.	ENSG00000152467	ENST00000282326	T	0.04049	3.72	1.04	-0.149	0.13420	.	.	.	.	.	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	0.999991	P	0.38110	0.618	B	0.37650	0.255	T	0.45175	-0.9279	9	0.25751	T	0.34	.	4.2446	0.10665	0.301:0.0:0.0:0.699	.	214	Q8NBB4	ZSCA1_HUMAN	G	214	ENSP00000282326:W214G	ENSP00000282326:W214G	W	+	1	0	ZSCAN1	63256644	0.000000	0.05858	0.018000	0.16275	0.047000	0.14425	-2.174000	0.01264	-0.116000	0.11893	-0.669000	0.03829	TGG		PASS	0.632	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		34	41	34	41	---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58579628	58579628	+	Silent	SNP	G	G	T	rs367729073		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr19:58579628G>T	ENST00000313434.5	+	5	1877	c.1776G>T	c.(1774-1776)tcG>tcT	p.S592S	ZNF135_ENST00000511556.1_Silent_p.S604S|ZNF135_ENST00000401053.4_Silent_p.S616S|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Silent_p.S592S|ZNF135_ENST00000506786.1_Silent_p.S550S|RN7SL526P_ENST00000469492.2_RNA	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	592			S -> L (in dbSNP:rs2228275).		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.S616S(1)|p.S592S(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)		ACAGCTCCTCGCTCAGCCAGC	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19798	0.0		0.0	False		,,,				2504	0.0					uc010yhq.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1810-1812)TCG>TCT		zinc finger protein 135 isoform 2							90.0	84.0	86.0					19																	58579628		2203	4300	6503	SO:0001819	synonymous_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579628G>T	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.1776G>T	19.37:g.58579628G>T						ZNF135_uc002qre.2_Silent_p.S592S|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Silent_p.S550S|ZNF135_uc002qrg.2_Silent_p.S562S|ZNF135_uc010yhr.1_Silent_p.S413S	p.S604S	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1908	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	604					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37	c.1812G>T		.	.	.	.	.	.	.	.	.	.	G	0.009	-1.834939	0.00579	.	.	ENSG00000176293	ENST00000391699	.	.	.	2.81	-5.62	0.02481	.	.	.	.	.	T	0.19967	0.0480	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24368	-1.0162	4	.	.	.	.	4.8476	0.13521	0.2223:0.1258:0.528:0.1239	.	.	.	.	L	610	.	.	R	+	2	0	ZNF135	63271440	0.000000	0.05858	0.018000	0.16275	0.000000	0.00434	-4.997000	0.00161	-1.664000	0.01479	-1.031000	0.02408	CGC		PASS	0.552	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		53	53	53	53	---	---	---	---
SIRPB1	10326	broad.mit.edu	37	20	1551566	1551566	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr20:1551566C>A	ENST00000381605.4	-	4	1033	c.969G>T	c.(967-969)agG>agT	p.R323S	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	323	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R323S(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCACATCGTCCCTGTGGGCAC	0.562																																						uc010gai.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(967-969)AGG>AGT		signal-regulatory protein beta 1 isoform 1							205.0	175.0	185.0					20																	1551566		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1551566C>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.969G>T	20.37:g.1551566C>A	ENSP00000371018:p.Arg323Ser					SIRPB1_uc002wfk.3_Intron	p.R323S	NM_006065	NP_006056	O00241	SIRB1_HUMAN			4	1068	-			323			Ig-like C1-type 2.|Extracellular (Potential).		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.969G>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	11.27	1.589731	0.28357	.	.	ENSG00000101307	ENST00000381605	T	0.02837	4.14	2.51	1.54	0.23209	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.184147	0.38605	N	0.001628	T	0.06508	0.0167	L	0.53729	1.69	0.09310	N	0.999999	P	0.49559	0.925	P	0.59012	0.85	T	0.13926	-1.0491	10	0.44086	T	0.13	.	4.4951	0.11833	0.0:0.8095:0.0:0.1905	.	323	O00241	SIRB1_HUMAN	S	323	ENSP00000371018:R323S	ENSP00000371018:R323S	R	-	3	2	SIRPB1	1499566	0.002000	0.14202	0.166000	0.22797	0.033000	0.12548	-0.208000	0.09371	1.400000	0.46741	0.462000	0.41574	AGG		PASS	0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		62	77	62	77	---	---	---	---
GFRA4	64096	broad.mit.edu	37	20	3640822	3640822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr20:3640822C>A	ENST00000319242.3	-	4	801	c.802G>T	c.(802-804)Gag>Tag	p.E268*	GFRA4_ENST00000290417.2_Nonsense_Mutation_p.E238*			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	268					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)	p.E268*(1)		large_intestine(1)|lung(2)	3						AGGCTGTGCTCCGGGTCTCCC	0.672																																						uc002wio.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(802-804)GAG>TAG		GDNF family receptor alpha 4 isoform b							12.0	13.0	13.0					20																	3640822		2193	4276	6469	SO:0001587	stop_gained	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3640822C>A	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"""persephin receptor"""					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.802G>T	20.37:g.3640822C>A	ENSP00000313423:p.Glu268*					GFRA4_uc002win.2_Nonsense_Mutation_p.E238*	p.E268*	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN			4	802	-			268					Q5JT74|Q9H191|Q9H192	Nonsense_Mutation	SNP	ENST00000319242.3	37	c.802G>T	CCDS13056.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394373	0.42410	.	.	ENSG00000125861	ENST00000290417;ENST00000319242	.	.	.	4.83	1.7	0.24286	.	2.005360	0.02458	N	0.086236	.	.	.	.	.	.	0.42116	D	0.991404	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-2.5394	7.1796	0.25765	0.0:0.5937:0.0:0.4063	.	.	.	.	X	238;268	.	ENSP00000290417:E238X	E	-	1	0	GFRA4	3588822	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.507000	0.22675	0.262000	0.21774	-0.140000	0.14226	GAG		PASS	0.672	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		9	18	9	18	---	---	---	---
ADAM33	80332	broad.mit.edu	37	20	3655185	3655185	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr20:3655185C>G	ENST00000356518.2	-	6	807	c.566G>C	c.(565-567)gGc>gCc	p.G189A	ADAM33_ENST00000350009.2_Missense_Mutation_p.G189A|ADAM33_ENST00000379861.4_Missense_Mutation_p.G189A|ADAM33_ENST00000466620.1_5'Flank	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	189					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G189A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCTGGTCATGCCCGCTTTGTT	0.582																																						uc002wit.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(565-567)GGC>GCC		ADAM metallopeptidase domain 33 isoform alpha							69.0	71.0	70.0					20																	3655185		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3655185C>G	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.566G>C	20.37:g.3655185C>G	ENSP00000348912:p.Gly189Ala					ADAM33_uc002wir.1_Missense_Mutation_p.G189A|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.G189A|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.G201A|ADAM33_uc010zqh.1_Missense_Mutation_p.G189A	p.G189A	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			6	653	-			189			Extracellular (Potential).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.566G>C	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	C	2.594	-0.294599	0.05568	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.01572	4.76;4.77;4.79	4.98	-7.36	0.01417	.	.	.	.	.	T	0.01353	0.0044	L	0.27053	0.805	0.09310	N	1	P;B;P;P;P	0.41597	0.756;0.349;0.622;0.488;0.488	P;B;B;B;B	0.44422	0.449;0.155;0.295;0.114;0.114	T	0.33701	-0.9858	9	0.06891	T	0.86	.	7.631	0.28238	0.0978:0.6007:0.0991:0.2023	.	189;201;189;189;189	B4DTZ3;B4E1Y6;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;ADA33_HUMAN;.	A	189	ENSP00000348912:G189A;ENSP00000369190:G189A;ENSP00000322550:G189A	ENSP00000322550:G189A	G	-	2	0	ADAM33	3603185	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.085000	0.01362	-1.301000	0.02338	-1.949000	0.00487	GGC		PASS	0.582	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		24	81	24	81	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9382159	9382159	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr20:9382159C>A	ENST00000378493.1	+	17	1548	c.1533C>A	c.(1531-1533)caC>caA	p.H511Q	PLCB4_ENST00000378473.3_Missense_Mutation_p.H511Q|PLCB4_ENST00000378501.2_Missense_Mutation_p.H511Q|PLCB4_ENST00000334005.3_Missense_Mutation_p.H511Q|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.H511Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.H511Q			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	511					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.H511Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGGAAGCTCACCCCGAATTCA	0.448																																						uc002wnf.2																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(1531-1533)CAC>CAA		phospholipase C beta 4 isoform b							66.0	60.0	62.0					20																	9382159		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9382159C>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1533C>A	20.37:g.9382159C>A	ENSP00000367754:p.His511Gln					PLCB4_uc010gbw.1_Missense_Mutation_p.H511Q|PLCB4_uc010gbx.2_Missense_Mutation_p.H511Q|PLCB4_uc002wne.2_Missense_Mutation_p.H511Q|PLCB4_uc002wnh.2_Missense_Mutation_p.H358Q	p.H511Q	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			19	1669	+			511					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1533C>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314025	0.23908	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.20332	2.25;2.25;2.25;2.25;2.25;2.08	6.08	0.92	0.19397	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.676991	0.16331	N	0.219127	T	0.11623	0.0283	L	0.34521	1.04	0.50313	D	0.999866	P;B;B;B	0.39920	0.695;0.016;0.244;0.257	B;B;B;B	0.33846	0.171;0.008;0.027;0.053	T	0.21965	-1.0230	10	0.15499	T	0.54	.	8.3557	0.32329	0.0:0.4303:0.0:0.5697	.	511;358;511;511	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	Q	511;511;511;511;511;347	ENSP00000334105:H511Q;ENSP00000367734:H511Q;ENSP00000278655:H511Q;ENSP00000367754:H511Q;ENSP00000367762:H511Q;ENSP00000390616:H347Q	ENSP00000278655:H511Q	H	+	3	2	PLCB4	9330159	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	0.419000	0.21247	0.163000	0.19507	-0.140000	0.14226	CAC		PASS	0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			20	26	20	26	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20340853	20340854	+	Splice_Site	DNP	GG	GG	TT			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr20:20340853_20340854GG>TT	ENST00000245957.5	+	27	3589_3590	c.3513_3514GG>TT	c.(3511-3516)gaGGag>gaTTag	p.1171_1172EE>D*	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1171								p.?(2)|p.E1172*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTGTTTTACAGGAGGAAGATCT	0.426											OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002wru.2																			3	Unknown(2)|Substitution - Nonsense(1)		lung(3)	ovary(3)|pancreas(1)	4						c.e27-1|c.(3514-3516)GAG>TAG		hypothetical protein LOC26074																																				SO:0001630	splice_region_variant	26074							g.chr20:20340853G>T|g.chr20:20340854G>T																												Exception_encountered	20.37:g.20340853_20340854delinsTT			OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	740	C20orf26_uc002wrw.2_Splice_Site|C20orf26_uc002wrw.2_RNA	p.E1172_splice|p.E1172*	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	27	3590	+			|1172					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Splice_Site|Nonsense_Mutation	SNP	ENST00000245957.5	37	c.3514_splice|c.3514G>T	CCDS33447.1																																																																																				PASS	0.426	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		Nonsense_Mutation	26|27	131	26	131	---	---	---	---
GSS	2937	broad.mit.edu	37	20	33516668	33516668	+	Missense_Mutation	SNP	G	G	T	rs142494184|rs549546640		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr20:33516668G>T	ENST00000216951.2	-	13	1486	c.1388C>A	c.(1387-1389)gCg>gAg	p.A463E	GSS_ENST00000541098.1_Missense_Mutation_p.A335E|GSS_ENST00000451957.2_Missense_Mutation_p.A352E	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	463					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.A463E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TGCCACTCCCGCTGCCACACC	0.542																																						uc002xbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1387-1389)GCG>GAG		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						156.0	102.0	120.0					20																	33516668		2203	4300	6503	SO:0001583	missense	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33516668G>T		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1388C>A	20.37:g.33516668G>T	ENSP00000216951:p.Ala463Glu					GSS_uc010zun.1_Missense_Mutation_p.A335E|GSS_uc010zuo.1_Missense_Mutation_p.A352E|GSS_uc010zup.1_Missense_Mutation_p.A394E|GSS_uc002xbh.2_RNA	p.A463E	NM_000178	NP_000169	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		13	1468	-			463					B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	c.1388C>A	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	G	36	5.689147	0.96784	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.93076	-3.16;-3.16;-3.16	4.95	4.95	0.65309	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	H	0.94306	3.52	0.80722	D	1	D;D	0.64830	0.982;0.994	P;P	0.58172	0.814;0.834	D	0.98316	1.0526	10	0.87932	D	0	-6.5746	18.3863	0.90468	0.0:0.0:1.0:0.0	.	352;463	B6F210;P48637	.;GSHB_HUMAN	E	463;335;352	ENSP00000216951:A463E;ENSP00000439744:A335E;ENSP00000407517:A352E	ENSP00000216951:A463E	A	-	2	0	GSS	32980329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.380000	0.73158	2.593000	0.87608	0.561000	0.74099	GCG		PASS	0.542	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			8	46	8	46	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37580988	37580988	+	Missense_Mutation	SNP	A	A	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr20:37580988A>T	ENST00000217429.4	+	4	1714	c.1673A>T	c.(1672-1674)aAc>aTc	p.N558I		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	528					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.N558I(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAAACTTGAACAAAGAGCGG	0.512																																						uc002xjg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1672-1674)AAC>ATC		hypothetical protein LOC81610							67.0	70.0	69.0					20																	37580988		1935	4119	6054	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580988A>T	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1673A>T	20.37:g.37580988A>T	ENSP00000217429:p.Asn558Ile						p.N558I	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			4	1714	+		Myeloproliferative disorder(115;0.00878)	528					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1673A>T	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929473	0.73327	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.12879	2.64	6.17	5.08	0.68730	.	0.296211	0.33732	N	0.004605	T	0.21267	0.0512	M	0.72479	2.2	0.30822	N	0.737722	P	0.49961	0.93	P	0.48030	0.564	T	0.28038	-1.0056	10	0.72032	D	0.01	.	7.3824	0.26864	0.7824:0.1443:0.0733:0.0	.	528	Q9H4H8	FA83D_HUMAN	I	558;512	ENSP00000217429:N558I	ENSP00000217429:N558I	N	+	2	0	FAM83D	37014402	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	4.015000	0.57152	1.168000	0.42723	0.533000	0.62120	AAC		PASS	0.512	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			22	78	22	78	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41419868	41419868	+	Silent	SNP	G	G	T	rs140340339		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr20:41419868G>T	ENST00000373187.1	-	3	452	c.453C>A	c.(451-453)ctC>ctA	p.L151L	PTPRT_ENST00000373198.4_Silent_p.L151L|PTPRT_ENST00000373190.1_Silent_p.L151L|PTPRT_ENST00000373184.1_Silent_p.L151L|PTPRT_ENST00000373193.3_Silent_p.L151L|PTPRT_ENST00000373201.1_Silent_p.L151L|PTPRT_ENST00000356100.2_Silent_p.L151L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	151	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.L151L(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCTGATGGCGAGCTCTGCCT	0.488																																						uc002xkg.2																			2	Substitution - coding silent(2)	p.L151L(1)	lung(1)|skin(1)	skin(8)|ovary(7)|lung(5)	20						c.(451-453)CTC>CTA		protein tyrosine phosphatase, receptor type, T							93.0	98.0	96.0					20																	41419868		2010	4193	6203	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41419868G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.453C>A	20.37:g.41419868G>T						PTPRT_uc010ggj.2_Silent_p.L151L	p.L151L	NM_007050	NP_008981	O14522	PTPRT_HUMAN			3	637	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	151			Extracellular (Potential).|MAM.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.453C>A	CCDS42874.1																																																																																				PASS	0.488	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			32	126	32	126	---	---	---	---
TTPAL	79183	broad.mit.edu	37	20	43113110	43113110	+	Silent	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr20:43113110T>C	ENST00000372904.3	+	4	722	c.579T>C	c.(577-579)agT>agC	p.S193S	TTPAL_ENST00000262605.4_Silent_p.S193S|TTPAL_ENST00000372906.2_Intron	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	193	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.S193S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAGGAGTGAGTTTATCAAAAG	0.428																																						uc002xmc.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(577-579)AGT>AGC		tocopherol (alpha) transfer protein-like							126.0	113.0	117.0					20																	43113110		2203	4300	6503	SO:0001819	synonymous_variant	79183					intracellular	transporter activity	g.chr20:43113110T>C	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.579T>C	20.37:g.43113110T>C						TTPAL_uc002xmd.1_Silent_p.S193S|TTPAL_uc010ggr.1_Intron	p.S193S	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN			4	703	+			193			CRAL-TRIO.		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Silent	SNP	ENST00000372904.3	37	c.579T>C	CCDS13332.2																																																																																				PASS	0.428	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		15	68	15	68	---	---	---	---
KCNJ6	3763	broad.mit.edu	37	21	39086791	39086791	+	Silent	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr21:39086791C>G	ENST00000609713.1	-	3	1258	c.669G>C	c.(667-669)cgG>cgC	p.R223R	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Silent_p.R223R	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	223					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)	p.R223R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGTCCCCTACCCGGAACATCA	0.517																																					Pancreas(48;379 1118 2936 19024 28214)	uc011aej.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(667-669)CGG>CGC		potassium inwardly-rectifying channel J6	Halothane(DB01159)						71.0	70.0	70.0					21																	39086791		1927	4153	6080	SO:0001819	synonymous_variant	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39086791C>G	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.669G>C	21.37:g.39086791C>G						KCNJ6_uc002ywo.2_Silent_p.R223R	p.R223R	NM_002240	NP_002231	P48051	IRK6_HUMAN			3	722	-			223			Cytoplasmic (By similarity).		Q3MJ74|Q53WW6	Silent	SNP	ENST00000609713.1	37	c.669G>C	CCDS42927.1																																																																																				PASS	0.517	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		13	76	13	76	---	---	---	---
MX1	4599	broad.mit.edu	37	21	42807802	42807802	+	Silent	SNP	G	G	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr21:42807802G>A	ENST00000398600.2	+	8	1169	c.144G>A	c.(142-144)aaG>aaA	p.K48K	MX1_ENST00000455164.2_Silent_p.K48K|MX1_ENST00000288383.6_Silent_p.K48K|MX1_ENST00000398598.3_Silent_p.K48K	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	48					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K48K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				ATGAGGAGAAGGTGCGCCCCT	0.567																																						uc002yzh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(142-144)AAG>AAA		myxovirus resistance protein 1							99.0	99.0	99.0					21																	42807802		2203	4300	6503	SO:0001819	synonymous_variant	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42807802G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.144G>A	21.37:g.42807802G>A						MX1_uc002yzi.2_Silent_p.K48K|MX1_uc010goq.2_Silent_p.K48K	p.K48K	NM_001144925	NP_001138397	P20591	MX1_HUMAN			8	1091	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	48					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Silent	SNP	ENST00000398600.2	37	c.144G>A	CCDS13673.1																																																																																				PASS	0.567	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			31	98	31	98	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32215144	32215144	+	Silent	SNP	C	C	T	rs368563183		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr22:32215144C>T	ENST00000382112.3	+	21	1873	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	DEPDC5_ENST00000400248.2_Silent_p.F601F|DEPDC5_ENST00000382111.2_Silent_p.F601F|DEPDC5_ENST00000400246.1_Silent_p.F601F|DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000382105.2_Silent_p.F601F|DEPDC5_ENST00000266091.3_Silent_p.F601F|DEPDC5_ENST00000536766.1_Silent_p.F573F|DEPDC5_ENST00000400249.2_Silent_p.F601F	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	601					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.F601F(3)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTAACCCCTTCGCTCCCTCTC	0.542																																						uc003als.2																			3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(1801-1803)TTC>TTT		DEP domain containing 5 isoform 1		C	,,,	0,4122		0,0,2061	141.0	141.0	141.0		1803,1803,1803,1803	-5.4	0.8	22		141	1,8419		0,1,4209	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	,,,	0,1,6270	TT,TC,CC		0.0119,0.0,0.0080	,,,	601/1595,601/1604,601/1504,601/1573	32215144	1,12541	2061	4210	6271	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32215144C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1803C>T	22.37:g.32215144C>T						DEPDC5_uc011als.1_Silent_p.F601F|DEPDC5_uc011alu.1_Silent_p.F601F|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.F601F|DEPDC5_uc003alu.2_Silent_p.F41F|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alt.1_Silent_p.F573F	p.F601F	NM_014662	NP_055477	O75140	DEPD5_HUMAN			22	1945	+			601					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.1803C>T	CCDS46692.1																																																																																				PASS	0.542	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		29	89	29	89	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42605710	42605710	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr22:42605710C>A	ENST00000359486.3	-	1	5738	c.5602G>T	c.(5602-5604)Gtt>Ttt	p.V1868F	TCF20_ENST00000404876.1_Missense_Mutation_p.V169F|TCF20_ENST00000335626.4_Missense_Mutation_p.V1868F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1868					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.V1868F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCCACAAACCAGGTAGATT	0.468																																						uc003bcj.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(5602-5604)GTT>TTT		transcription factor 20 isoform 1							120.0	126.0	124.0					22																	42605710		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605710C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5602G>T	22.37:g.42605710C>A	ENSP00000352463:p.Val1868Phe					TCF20_uc003bck.1_Missense_Mutation_p.V1868F|TCF20_uc003bnt.2_Missense_Mutation_p.V1868F	p.V1868F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	5736	-			1868					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5602G>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891894	0.72524	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.70869	-0.52;-0.52;-0.52	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000004	D	0.86087	0.5849	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86505	0.1806	10	0.87932	D	0	-15.4916	20.428	0.99075	0.0:1.0:0.0:0.0	.	1868;1868	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	F	1868;1868;169	ENSP00000352463:V1868F;ENSP00000335561:V1868F;ENSP00000385531:V169F	ENSP00000335561:V1868F	V	-	1	0	TCF20	40935654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.837000	0.97791	0.655000	0.94253	GTT		PASS	0.468	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		53	117	53	117	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44031098	44031098	+	Splice_Site	SNP	T	T	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr22:44031098T>C	ENST00000262726.7	-	18	2237		c.e18-2		EFCAB6_ENST00000396231.2_Splice_Site	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.?(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCCAGTACCTGACGAGGGAG	0.567																																						uc003bdy.1																			1	Unknown(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.e18-1		CAP-binding protein complex interacting protein							147.0	118.0	128.0					22																	44031098		2203	4300	6503	SO:0001630	splice_region_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44031098T>C	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1984-2A>G	22.37:g.44031098T>C						EFCAB6_uc003bdz.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzi.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzj.1_Intron|EFCAB6_uc010gzk.1_Intron	p.V662_splice	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			18	2199	-		Ovarian(80;0.0247)|all_neural(38;0.025)						A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Splice_Site	SNP	ENST00000262726.7	37	c.1984_splice	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.695947	0.30052	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1183	0.53878	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EFCAB6	42362431	1.000000	0.71417	0.961000	0.40146	0.162000	0.22319	3.701000	0.54793	2.041000	0.60428	0.459000	0.35465	.		PASS	0.567	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	Intron	20	51	20	51	---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50547272	50547272	+	Splice_Site	SNP	C	C	T	rs138868385		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr22:50547272C>T	ENST00000262794.5	+	5	825	c.742C>T	c.(742-744)Cga>Tga	p.R248*	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Splice_Site_p.R248*|MOV10L1_ENST00000395858.3_Splice_Site_p.R248*|MOV10L1_ENST00000540615.1_Splice_Site_p.R228*	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	248					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.R228*(1)|p.R248*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGTGAAGAGGCGGTAAGAAAA	0.552																																						uc003bjj.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(742-744)CGA>TGA		MOV10-like 1 isoform 1			stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	86.0	91.0		742,682,742	-0.0	0.0	22	dbSNP_134	91	0,8600		0,0,4300	no	stop-gained-near-splice,stop-gained-near-splice,stop-gained-near-splice	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	248/1166,228/1166,248/1212	50547272	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50547272C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.743+1C>T	22.37:g.50547272C>T						MOV10L1_uc003bjk.3_Nonsense_Mutation_p.R248*|MOV10L1_uc011arp.1_Nonsense_Mutation_p.R228*	p.R248*	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	5	825	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	248					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Nonsense_Mutation	SNP	ENST00000262794.5	37	c.742C>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.022340	0.75275	2.27E-4	0.0	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	.	.	.	3.5	-0.0212	0.13952	.	1.060250	0.07230	N	0.862379	.	.	.	.	.	.	0.22940	N	0.998534	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	3.2509	0.06814	0.0:0.3846:0.2136:0.4018	.	.	.	.	X	248;248;248;228	.	ENSP00000262794:R248X	R	+	1	2	MOV10L1	48889399	0.989000	0.36119	0.007000	0.13788	0.215000	0.24574	0.103000	0.15292	0.215000	0.20761	0.632000	0.83419	CGA		PASS	0.552	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	Nonsense_Mutation	5	52	5	52	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51143492	51143493	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr22:51143492_51143493GG>TT	ENST00000414786.2	+	16	2182_2183	c.1955_1956GG>TT	c.(1954-1956)aGG>aTT	p.R652I	SHANK3_ENST00000262795.3_Missense_Mutation_p.R682I|SHANK3_ENST00000445220.2_Missense_Mutation_p.R667I			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	666	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R682S(1)|p.R682I(1)|p.R682M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCTGTGACAAGGAAGCCAGAAG	0.599																																						uc003bne.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(2044-2046)AGG>ATG|c.(2044-2046)AGG>AGT		SH3 and multiple ankyrin repeat domains 3																																				SO:0001583	missense	85358							g.chr22:51143492G>T|g.chr22:51143493G>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	Exception_encountered	22.37:g.51143492_51143493delinsTT	ENSP00000464552:p.Arg652Ile					SHANK3_uc003bnf.1_Missense_Mutation_p.R137M|SHANK3_uc003bnf.1_Missense_Mutation_p.R137S	p.R682M|p.R682S	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	17	2045|2046	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	682					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.2045G>T|c.2046G>T																																																																																					PASS	0.599	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		20|19	44|43	19	43	---	---	---	---
SUPT20HL2	170067	broad.mit.edu	37	X	24330733	24330733	+	IGR	SNP	G	G	T			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:24330733G>T								AC096509.1 (25939 upstream) : AC004552.1 (36192 downstream)														p.P344T(1)									TGTTCCATCGGGTCGGTATTC	0.527																																						uc011mjw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)CCG>ACG		family with sequence similarity 48, member B2							143.0	117.0	125.0					X																	24330733		1568	3582	5150	SO:0001628	intergenic_variant	170067							g.chrX:24330733G>T																													X.37:g.24330733G>T							p.P234T	NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN			1	700	-			234						Missense_Mutation	SNP		37	c.700C>A																																																																																				0	PASS	0.527									27	39	27	39	---	---	---	---
PCYT1B	9468	broad.mit.edu	37	X	24580609	24580609	+	Missense_Mutation	SNP	T	T	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:24580609T>A	ENST00000379144.2	-	8	1041	c.911A>T	c.(910-912)cAg>cTg	p.Q304L	PCYT1B_ENST00000356768.4_Missense_Mutation_p.Q304L|PCYT1B_ENST00000379145.1_Missense_Mutation_p.Q286L	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	304					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)	p.Q304L(2)|p.Q286L(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GCTCCTCTCCTGGAACATCTG	0.567																																						uc004dbi.2																			3	Substitution - Missense(3)		lung(3)		0						c.(910-912)CAG>CTG		choline phosphate cytidylyltransferase 1 beta	Choline(DB00122)						27.0	25.0	26.0					X																	24580609		2203	4300	6503	SO:0001583	missense	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24580609T>A	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.911A>T	X.37:g.24580609T>A	ENSP00000368439:p.Gln304Leu					PCYT1B_uc004dbk.3_Missense_Mutation_p.Q304L|PCYT1B_uc004dbj.2_Missense_Mutation_p.Q286L	p.Q304L	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN			8	1144	-			304					A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	c.911A>T	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410763	0.62399	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	.	.	.	5.67	5.67	0.87782	.	0.058983	0.64402	D	0.000001	T	0.53769	0.1817	L	0.40543	1.245	0.80722	D	1	B;B;B	0.22211	0.002;0.066;0.034	B;B;B	0.24394	0.015;0.028;0.053	T	0.49725	-0.8909	9	0.30854	T	0.27	-14.644	13.4939	0.61414	0.0:0.0:0.0:1.0	.	304;286;304	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	L	286;304;304	.	ENSP00000349211:Q304L	Q	-	2	0	PCYT1B	24490530	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.375000	0.79646	1.903000	0.55091	0.441000	0.28932	CAG		PASS	0.567	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		3	7	3	7	---	---	---	---
MAGEB1	4112	broad.mit.edu	37	X	30269093	30269093	+	Missense_Mutation	SNP	T	T	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:30269093T>G	ENST00000378981.3	+	4	804	c.483T>G	c.(481-483)ttT>ttG	p.F161L	MAGEB1_ENST00000397550.1_Missense_Mutation_p.F161L|MAGEB1_ENST00000397548.2_Missense_Mutation_p.F161L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	161	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.F161L(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AGCTCGTCTTTGGCCTTGATT	0.478																																						uc004dcc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)TTT>TTG		melanoma antigen family B, 1							67.0	51.0	57.0					X																	30269093		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269093T>G		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.483T>G	X.37:g.30269093T>G	ENSP00000368264:p.Phe161Leu					MAGEB1_uc004dcd.2_Missense_Mutation_p.F161L|MAGEB1_uc004dce.2_Missense_Mutation_p.F161L	p.F161L	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	803	+			161			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.483T>G	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.930004	0.52759	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.17528	2.27;2.27;2.27	3.98	1.59	0.23543	.	0.056605	0.64402	D	0.000001	T	0.44201	0.1282	M	0.93462	3.42	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.30851	-0.9964	10	0.66056	D	0.02	.	4.9977	0.14247	0.0:0.2541:0.0:0.7459	.	161	P43366	MAGB1_HUMAN	L	161	ENSP00000368264:F161L;ENSP00000380683:F161L;ENSP00000380681:F161L	ENSP00000368264:F161L	F	+	3	2	MAGEB1	30179014	1.000000	0.71417	0.143000	0.22291	0.009000	0.06853	0.653000	0.24902	0.215000	0.20761	-0.321000	0.08615	TTT		PASS	0.478	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		6	14	6	14	---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34961941	34961941	+	Silent	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:34961941C>G	ENST00000329357.5	+	1	1029	c.993C>G	c.(991-993)ctC>ctG	p.L331L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	331								p.L331L(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTCCCATCTCTGCCTGGAAC	0.587																																						uc004ddi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(991-993)CTC>CTG		hypothetical protein LOC170062							57.0	55.0	56.0					X																	34961941		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34961941C>G	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.993C>G	X.37:g.34961941C>G							p.L331L	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1011	+			331					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.993C>G	CCDS14236.1																																																																																				PASS	0.587	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		15	29	15	29	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50167245	50167245	+	RNA	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:50167245C>A	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTATACATTACCGCGGGATGG	0.418																																						uc010njr.1																			0				ovary(1)|kidney(1)	2						c.e2+1		diacylglycerol kinase kappa							120.0	105.0	110.0					X																	50167245		1877	4099	5976			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50167245C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50167245C>A							p.A252_splice	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			2	816	-	Ovarian(276;0.236)							B2RP91	Splice_Site	SNP	ENST00000376025.2	37	c.756_splice																																																																																					PASS	0.418	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		13	23	13	23	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54264800	54264800	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:54264800C>A	ENST00000375159.2	-	18	3988	c.3989G>T	c.(3988-3990)gGa>gTa	p.G1330V	WNK3_ENST00000375169.3_Missense_Mutation_p.G1283V|WNK3_ENST00000354646.2_Missense_Mutation_p.G1330V			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1330					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.G1330V(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						CTGAAATGATCCACTCATCGC	0.443																																						uc004dtd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(3847-3849)GGA>GTA		WNK lysine deficient protein kinase 3 isoform 2							108.0	91.0	97.0					X																	54264800		2203	4300	6503	SO:0001583	missense	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:54264800C>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.3989G>T	X.37:g.54264800C>A	ENSP00000364301:p.Gly1330Val					WNK3_uc004dtc.1_Missense_Mutation_p.G1330V	p.G1283V	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			19	4287	-			1283					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.3848G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743126	0.69418	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72942	-0.7;-0.54;-0.54	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000038	T	0.77226	0.4099	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.911	T	0.77164	-0.2688	10	0.40728	T	0.16	-16.0271	16.4683	0.84092	0.0:1.0:0.0:0.0	.	1283;1330	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	V	1283;1330;1330	ENSP00000364312:G1283V;ENSP00000346667:G1330V;ENSP00000364301:G1330V	ENSP00000346667:G1330V	G	-	2	0	WNK3	54281525	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.580000	0.46068	2.144000	0.66660	0.600000	0.82982	GGA		PASS	0.443	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		16	24	16	24	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963349	73963349	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:73963349C>A	ENST00000055682.6	-	3	1654	c.1043G>T	c.(1042-1044)cGa>cTa	p.R348L		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	348					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R348L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTAGACTCTCGCTTGGGGCA	0.473																																						uc004eby.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1042-1044)CGA>CTA		hypothetical protein LOC340533							56.0	51.0	53.0					X																	73963349		2202	4299	6501	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963349C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1043G>T	X.37:g.73963349C>A	ENSP00000055682:p.Arg348Leu						p.R348L	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	1660	-			348					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1043G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588401	0.46110	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.42131	0.98;0.98	5.93	5.93	0.95920	.	1.238710	0.05789	N	0.610056	T	0.69459	0.3113	M	0.65975	2.015	0.47308	D	0.999382	D	0.76494	0.999	D	0.70487	0.969	T	0.57877	-0.7735	10	0.87932	D	0	-8.113	19.2973	0.94128	0.0:1.0:0.0:0.0	.	348	Q5QGS0	K2022_HUMAN	L	348	ENSP00000362567:R348L;ENSP00000055682:R348L	ENSP00000055682:R348L	R	-	2	0	KIAA2022	73880074	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	5.393000	0.66279	2.510000	0.84645	0.600000	0.82982	CGA		PASS	0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		18	33	18	33	---	---	---	---
ZMAT1	84460	broad.mit.edu	37	X	101159199	101159199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:101159199C>A	ENST00000372782.3	-	3	273	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Nonsense_Mutation_p.E76*	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	76						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E76*(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TAACCTACCTCATAATGTGAA	0.333																																						uc011mrl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(226-228)GAG>TAG		zinc finger, matrin type 1 isoform 1							101.0	91.0	95.0					X																	101159199		2202	4298	6500	SO:0001587	stop_gained	84460					nucleus	zinc ion binding	g.chrX:101159199C>A	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.226G>T	X.37:g.101159199C>A	ENSP00000361868:p.Glu76*					ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	p.E76*	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN			3	537	-			Error:Variant_position_missing_in_A7MD47_after_alignment					Q8NDS3|Q96JN6	Nonsense_Mutation	SNP	ENST00000372782.3	37	c.226G>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497045	0.85069	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	.	.	.	4.75	1.04	0.20106	.	0.251756	0.20824	N	0.085015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-1.3617	8.0162	0.30383	0.0:0.645:0.0:0.355	.	.	.	.	X	76	.	ENSP00000361868:E76X	E	-	1	0	ZMAT1	101045855	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	0.953000	0.29162	-0.026000	0.13895	0.590000	0.80494	GAG		PASS	0.333	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			6	13	6	13	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694561	109694561	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:109694561C>G	ENST00000465301.2	+	3	962	c.716C>G	c.(715-717)aCc>aGc	p.T239S	RGAG1_ENST00000540313.1_Missense_Mutation_p.T239S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	239								p.T239S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATGAAGACACCGAAGCAATG	0.468																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(715-717)ACC>AGC		retrotransposon gag domain containing 1							112.0	102.0	106.0					X																	109694561		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694561C>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.716C>G	X.37:g.109694561C>G	ENSP00000419786:p.Thr239Ser					RGAG1_uc011msr.1_Missense_Mutation_p.T239S	p.T239S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	962	+			239					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.716C>G	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872216	0.51695	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.58060	0.36;0.36	4.02	3.14	0.36123	.	0.000000	0.37261	N	0.002164	T	0.53061	0.1773	N	0.19112	0.55	0.27135	N	0.961803	D	0.71674	0.998	D	0.80764	0.994	T	0.43442	-0.9391	9	.	.	.	-4.1584	10.1152	0.42587	0.2011:0.7988:0.0:0.0	.	239	Q8NET4	RGAG1_HUMAN	S	239	ENSP00000419786:T239S;ENSP00000441452:T239S	.	T	+	2	0	RGAG1	109581217	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.730000	0.38125	1.015000	0.39444	0.600000	0.82982	ACC		PASS	0.468	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		38	49	38	49	---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117566799	117566799	+	Missense_Mutation	SNP	G	G	C			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:117566799G>C	ENST00000254029.3	+	13	2188	c.1793G>C	c.(1792-1794)cGg>cCg	p.R598P	WDR44_ENST00000371822.5_Missense_Mutation_p.R573P|WDR44_ENST00000371825.3_Missense_Mutation_p.R598P	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	598						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.R598P(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTTCGGCAACGGCCATTTTGC	0.343																																						uc004eqn.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(1792-1794)CGG>CCG		WD repeat domain 44 protein							161.0	144.0	150.0					X																	117566799		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117566799G>C	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1793G>C	X.37:g.117566799G>C	ENSP00000254029:p.Arg598Pro					WDR44_uc004eqo.2_Missense_Mutation_p.R598P|WDR44_uc011mtr.1_Missense_Mutation_p.R573P|WDR44_uc010nqi.2_Missense_Mutation_p.R308P	p.R598P	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			13	2218	+			598					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.1793G>C	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660627	0.67586	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	D;D;D	0.81821	-1.54;-1.51;-1.51	5.34	4.46	0.54185	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.132704	0.49916	D	0.000129	T	0.82015	0.4945	L	0.45352	1.415	0.35931	D	0.832524	P;D;D;D	0.65815	0.91;0.978;0.995;0.978	P;P;P;P	0.61132	0.642;0.841;0.884;0.875	D	0.85499	0.1190	10	0.59425	D	0.04	-10.9631	8.6592	0.34081	0.0796:0.0:0.7722:0.1481	.	573;598;598;598	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.;.;.;WDR44_HUMAN	P	573;598;598	ENSP00000360887:R573P;ENSP00000254029:R598P;ENSP00000360890:R598P	ENSP00000254029:R598P	R	+	2	0	WDR44	117450827	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	3.486000	0.53215	2.240000	0.73641	0.591000	0.81541	CGG		PASS	0.343	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		41	66	41	66	---	---	---	---
MAGEC2	51438	broad.mit.edu	37	X	141290679	141290679	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:141290679C>A	ENST00000247452.3	-	3	1442	c.1095G>T	c.(1093-1095)atG>atT	p.M365I		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	365	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.M365I(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGCTGGACATGACACTGA	0.498										HNSCC(46;0.14)																												uc004fbu.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1093-1095)ATG>ATT		melanoma antigen family C, 2							142.0	117.0	125.0					X																	141290679		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141290679C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1095G>T	X.37:g.141290679C>A	ENSP00000354660:p.Met365Ile	HNSCC(46;0.14)					p.M365I	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	1443	-	Acute lymphoblastic leukemia(192;6.56e-05)		365					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.1095G>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	3.314	-0.140161	0.06669	.	.	ENSG00000046774	ENST00000247452	T	0.02067	4.47	1.2	-2.4	0.06583	.	.	.	.	.	T	0.02119	0.0066	L	0.55743	1.74	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48779	-0.9005	9	0.18710	T	0.47	.	2.1814	0.03876	0.2527:0.3723:0.0:0.375	.	365	Q9UBF1	MAGC2_HUMAN	I	365	ENSP00000354660:M365I	ENSP00000354660:M365I	M	-	3	0	MAGEC2	141118345	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.544000	0.06077	-1.312000	0.02306	-1.454000	0.01032	ATG		PASS	0.498	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		13	77	13	77	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151821077	151821077	+	Missense_Mutation	SNP	C	C	A			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:151821077C>A	ENST00000370306.2	+	9	1252	c.1232C>A	c.(1231-1233)cCg>cAg	p.P411Q		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	411					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.P411Q(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)	CTGGCAAGCCCGGAAAGCCTC	0.617																																						uc004ffp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1231-1233)CCG>CAG		gamma-aminobutyric acid (GABA) receptor, theta							61.0	60.0	60.0					X																	151821077		2203	4300	6503	SO:0001583	missense	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:151821077C>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.1232C>A	X.37:g.151821077C>A	ENSP00000359329:p.Pro411Gln						p.P411Q	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			9	1252	+	Acute lymphoblastic leukemia(192;6.56e-05)		411					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1232C>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	3.378	-0.126898	0.06795	.	.	ENSG00000147402	ENST00000370306	D	0.85773	-2.03	4.59	0.628	0.17681	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.241850	0.21731	N	0.069971	T	0.61148	0.2324	N	0.03608	-0.345	0.09310	N	0.999999	B	0.24882	0.113	B	0.31751	0.135	T	0.52177	-0.8610	10	0.09843	T	0.71	.	3.0524	0.06173	0.1982:0.4515:0.0:0.3504	.	411	Q9UN88	GBRT_HUMAN	Q	411	ENSP00000359329:P411Q	ENSP00000359329:P411Q	P	+	2	0	GABRQ	151571733	0.001000	0.12720	0.169000	0.22859	0.977000	0.68977	-0.992000	0.03724	-0.027000	0.13873	-0.909000	0.02823	CCG		PASS	0.617	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		23	24	23	24	---	---	---	---
NAA10	8260	broad.mit.edu	37	X	153195481	153195481	+	Missense_Mutation	SNP	C	C	G			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:153195481C>G	ENST00000464845.1	-	8	985	c.667G>C	c.(667-669)Gat>Cat	p.D223H	NAA10_ENST00000370009.1_Missense_Mutation_p.D208H|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000393710.3_5'Flank|NAA10_ENST00000370015.4_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	223					DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)	p.D223H(1)		breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						TCCTTGACATCTGTGCTCTCT	0.617																																					Ovarian(94;1099 1433 38814 45882 51063)	uc004fjm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)GAT>CAT		alpha-N-acetyltransferase 1A							106.0	90.0	96.0					X																	153195481		2203	4300	6503	SO:0001583	missense	8260				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chrX:153195481C>G	BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	18704	protein-coding gene	gene with protein product		300013	"""ARD1 homolog, N-acetyltransferase (S. cerevisiae)"", ""ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"""	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.667G>C	X.37:g.153195481C>G	ENSP00000417763:p.Asp223His					NAA10_uc004fjn.1_Missense_Mutation_p.D208H	p.D223H	NM_003491	NP_003482	P41227	NAA10_HUMAN			8	778	-			223					A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	c.667G>C	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073456	0.76415	.	.	ENSG00000102030	ENST00000464845;ENST00000370009	T;T	0.63096	-0.02;0.05	5.49	4.61	0.57282	.	0.222196	0.44688	N	0.000427	T	0.64649	0.2617	L	0.46157	1.445	0.58432	D	0.999999	D;P	0.60160	0.987;0.952	P;P	0.50659	0.647;0.647	T	0.68081	-0.5503	10	0.87932	D	0	0.4793	14.0827	0.64934	0.0:0.8517:0.1483:0.0	.	208;223	A6NM98;P41227	.;NAA10_HUMAN	H	223;208	ENSP00000417763:D223H;ENSP00000359026:D208H	ENSP00000359026:D208H	D	-	1	0	NAA10	152848675	1.000000	0.71417	0.088000	0.20740	0.901000	0.52897	7.080000	0.76837	1.041000	0.40125	0.594000	0.82650	GAT		PASS	0.617	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		7	33	7	33	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993989	144993997	+	In_Frame_Del	DEL	CGTCCTTGA	CGTCCTTGA	-	rs202003084		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr8:144993989_144993997delCGTCCTTGA	ENST00000322810.4	-	32	10572_10580	c.10403_10411delTCAAGGACG	c.(10402-10413)ctcaaggacggc>cgc	p.3468_3471LKDG>R	PLEC_ENST00000345136.3_In_Frame_Del_p.3331_3334LKDG>R|PLEC_ENST00000398774.2_In_Frame_Del_p.3299_3302LKDG>R|PLEC_ENST00000356346.3_In_Frame_Del_p.3317_3320LKDG>R|PLEC_ENST00000436759.2_In_Frame_Del_p.3358_3361LKDG>R|PLEC_ENST00000354958.2_In_Frame_Del_p.3309_3312LKDG>R|PLEC_ENST00000354589.3_In_Frame_Del_p.3331_3334LKDG>R|PLEC_ENST00000527096.1_In_Frame_Del_p.3354_3357LKDG>R|PLEC_ENST00000357649.2_In_Frame_Del_p.3335_3338LKDG>R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3468	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCGTCTTGCCGTCCTTGAGCTGCTCAAA	0.67																																						uc003zaf.1																			0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10402-10413)CTCAAGGACGGC>CGC		plectin isoform 1																																				SO:0001651	inframe_deletion	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993989_144993997delCGTCCTTGA	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10403_10411delTCAAGGACG	8.37:g.144993989_144993997delCGTCCTTGA	ENSP00000323856:p.Leu3468_Gly3471delinsArg					PLEC_uc003zab.1_In_Frame_Del_p.3331_3334LKDG>R|PLEC_uc003zac.1_In_Frame_Del_p.3335_3338LKDG>R|PLEC_uc003zad.2_In_Frame_Del_p.3331_3334LKDG>R|PLEC_uc003zae.1_In_Frame_Del_p.3299_3302LKDG>R|PLEC_uc003zag.1_In_Frame_Del_p.3309_3312LKDG>R|PLEC_uc003zah.2_In_Frame_Del_p.3317_3320LKDG>R|PLEC_uc003zaj.2_In_Frame_Del_p.3358_3361LKDG>R	p.3468_3471LKDG>R	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10573_10581	-			3468_3471			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	In_Frame_Del	DEL	ENST00000322810.4	37	c.10403_10411delTCAAGGACG	CCDS43772.1																																																																																					0.670	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		59	31	59	31	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						uc001mxe.1																			0													Homo sapiens cDNA FLJ44864 fis, clone BRALZ2013621, moderately similar to Heterogeneous nuclear ribonucleoprotein K.																																						0							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA														2		-									RNA	DEL	ENST00000511537.1	37	c.1330delT																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		5	3	5	3	---	---	---	---
CNDP2	55748	broad.mit.edu	37	18	72183485	72183485	+	Frame_Shift_Del	DEL	G	G	-			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chr18:72183485delG	ENST00000324262.4	+	9	1242	c.926delG	c.(925-927)tggfs	p.W309fs	CNDP2_ENST00000324301.8_Frame_Shift_Del_p.W225fs|CNDP2_ENST00000579847.1_Frame_Shift_Del_p.W309fs	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	309					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATGCACCGATGGCGGTACCCG	0.582																																						uc002llm.1																			0				ovary(2)|skin(1)	3						c.(925-927)TGGfs		CNDP dipeptidase 2							193.0	154.0	167.0					18																	72183485		2203	4300	6503	SO:0001589	frameshift_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72183485delG	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.926delG	18.37:g.72183485delG	ENSP00000325548:p.Trp309fs					CNDP2_uc002lln.1_Frame_Shift_Del_p.W225fs|CNDP2_uc010dqs.2_Intron	p.W309fs	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	9	1088	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	309					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Frame_Shift_Del	DEL	ENST00000324262.4	37	c.926delG	CCDS12006.1																																																																																					0.582	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		175	91	175	91	---	---	---	---
GPR174	84636	broad.mit.edu	37	X	78427401	78427401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-63-6202-01A-11D-1817-08	TCGA-63-6202-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a3c568a6-0c43-47a7-a35a-3225fedeeb44	fd9f3633-3955-4760-8e4f-6fbed792b860	g.chrX:78427401delC	ENST00000276077.1	+	1	933	c.897delC	c.(895-897)ttcfs	p.F299fs		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTAATGAGTTCCGAAGACGGC	0.408										HNSCC(63;0.18)																												uc004edg.1																			0				lung(1)|central_nervous_system(1)	2						c.(895-897)TTCfs		putative purinergic receptor FKSG79							129.0	110.0	116.0					X																	78427401		2203	4300	6503	SO:0001589	frameshift_variant	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427401delC	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.897delC	X.37:g.78427401delC	ENSP00000276077:p.Phe299fs	HNSCC(63;0.18)					p.F299fs	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	933	+			299			Cytoplasmic (Potential).		Q2M3F7	Frame_Shift_Del	DEL	ENST00000276077.1	37	c.897delC	CCDS14443.1																																																																																					0.408	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		33	23	33	23	---	---	---	---
