#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
PRAMEF2	65122	broad.mit.edu	37	1	12920019	12920019	+	Silent	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:12920019A>T	ENST00000240189.2	+	3	846	c.759A>T	c.(757-759)ggA>ggT	p.G253G		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	253					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.G253G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AACTCGAGGGATGGTTAGTCA	0.438																																						uc001aum.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(757-759)GGA>GGT		PRAME family member 2							107.0	106.0	106.0					1																	12920019		2202	4293	6495	SO:0001819	synonymous_variant	65122							g.chr1:12920019A>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.759A>T	1.37:g.12920019A>T							p.G253G	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	846	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	253						Silent	SNP	ENST00000240189.2	37	c.759A>T	CCDS149.1																																																																																				PASS	0.438	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		19	58	19	58	---	---	---	---
CASP9	842	broad.mit.edu	37	1	15844829	15844829	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:15844829C>A	ENST00000333868.5	-	2	288	c.194G>T	c.(193-195)cGa>cTa	p.R65L	CASP9_ENST00000546424.1_Missense_Mutation_p.R65L|CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000348549.5_Missense_Mutation_p.R65L|CASP9_ENST00000469637.1_5'UTR	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	65	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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.R65P(1)|p.R65L(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)		CTGACTCCCTCGAGTCTCCAG	0.527																																						uc001awn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|kidney(1)	2						c.(193-195)CGA>CTA		caspase 9 isoform alpha preproprotein							74.0	72.0	73.0					1																	15844829		2203	4300	6503	SO:0001583	missense	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.chr1:15844829C>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.194G>T	1.37:g.15844829C>A	ENSP00000330237:p.Arg65Leu					CASP9_uc001awm.1_Missense_Mutation_p.R65L|CASP9_uc001awo.2_Missense_Mutation_p.R65L|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR	p.R65L	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)	2	289	-		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)	65			CARD.		B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.194G>T	CCDS158.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998469	0.74818	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000440484	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.59	5.59	0.84812	DEATH-like (2);Caspase Recruitment (3);	0.158033	0.47455	D	0.000225	T	0.76069	0.3936	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.80158	-0.1499	10	0.87932	D	0	.	15.0955	0.72232	0.0:1.0:0.0:0.0	.	65;65;65	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	L	65	ENSP00000449584:R65L;ENSP00000330237:R65L;ENSP00000255256:R65L;ENSP00000411304:R65L	ENSP00000330237:R65L	R	-	2	0	CASP9	15717416	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.876000	0.63079	2.635000	0.89317	0.563000	0.77884	CGA		PASS	0.527	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		4	83	4	83	---	---	---	---
SDC3	9672	broad.mit.edu	37	1	31349950	31349950	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:31349950C>A	ENST00000339394.6	-	3	493	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000336798.7_Missense_Mutation_p.V49L	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	107					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V107L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTGGACACCGCCAGGGCT	0.647																																						uc001bse.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(319-321)GTG>TTG		syndecan 3							22.0	24.0	24.0					1																	31349950		2203	4300	6503	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31349950C>A	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.319G>T	1.37:g.31349950C>A	ENSP00000344468:p.Val107Leu					SDC3_uc001bsd.2_Missense_Mutation_p.V49L	p.V107L	NM_014654	NP_055469	O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	3	366	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	107			Extracellular (Potential).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.319G>T	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	C	5.038	0.192684	0.09599	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.23950	2.06;1.88	4.93	0.708	0.18144	.	0.764287	0.11385	N	0.569398	T	0.09158	0.0226	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35301	-0.9794	10	0.25751	T	0.34	-1.7487	6.7351	0.23405	0.0:0.4987:0.215:0.2863	.	107;49	O75056;D3DPN2	SDC3_HUMAN;.	L	49;107	ENSP00000338346:V49L;ENSP00000344468:V107L	ENSP00000338346:V49L	V	-	1	0	SDC3	31122537	0.031000	0.19500	0.878000	0.34440	0.483000	0.33249	0.570000	0.23653	0.151000	0.19162	0.313000	0.20887	GTG		PASS	0.647	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		5	11	5	11	---	---	---	---
BAI2	576	broad.mit.edu	37	1	32198745	32198745	+	Splice_Site	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:32198745C>A	ENST00000373658.3	-	26	3794		c.e26-1		BAI2_ENST00000465256.1_Splice_Site|BAI2_ENST00000257070.4_Splice_Site|BAI2_ENST00000398542.1_Splice_Site|BAI2_ENST00000398547.1_Splice_Site|BAI2_ENST00000440175.2_Splice_Site|BAI2_ENST00000373655.2_Splice_Site|BAI2_ENST00000527361.1_Splice_Site|BAI2_ENST00000398538.1_Splice_Site|BAI2_ENST00000398556.3_Splice_Site	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.?(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GAGTGAGGCCCTGAGGGGACA	0.642																																						uc001btn.2																			1	Unknown(1)		lung(1)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.e26-1		brain-specific angiogenesis inhibitor 2							27.0	24.0	25.0					1																	32198745		2197	4288	6485	SO:0001630	splice_region_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32198745C>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3453-1G>T	1.37:g.32198745C>A						BAI2_uc001btm.2_Splice_Site_p.M145_splice|BAI2_uc001btp.1_Splice_Site_p.M145_splice|BAI2_uc010ogn.1_Splice_Site_p.G121_splice|BAI2_uc010ogo.1_Splice_Site_p.G760_splice|BAI2_uc010ogp.1_Splice_Site_p.M1084_splice|BAI2_uc010ogq.1_Splice_Site_p.G1118_splice|BAI2_uc001bto.2_Splice_Site_p.M1151_splice	p.M1151_splice	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	26	3807	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)						B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Splice_Site	SNP	ENST00000373658.3	37	c.3453_splice	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989007	0.74589	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	.	.	.	4.84	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9968	0.71439	0.0:0.8565:0.1435:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAI2	31971332	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.813000	0.86123	1.150000	0.42419	0.655000	0.94253	.		PASS	0.642	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703	Intron	3	3	3	3	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42045717	42045717	+	Missense_Mutation	SNP	T	T	G	rs202234290		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:42045717T>G	ENST00000372583.1	-	4	5637	c.4752A>C	c.(4750-4752)caA>caC	p.Q1584H	HIVEP3_ENST00000372584.1_Missense_Mutation_p.Q1584H|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.Q1584H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.Q1584H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1584					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1584H(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCGTACCTTCTTGTGACTTGG	0.488																																						uc001cgz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4750-4752)CAA>CAC		human immunodeficiency virus type I enhancer							168.0	140.0	150.0					1																	42045717		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045717T>G	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4752A>C	1.37:g.42045717T>G	ENSP00000361664:p.Gln1584His					HIVEP3_uc001cha.3_Missense_Mutation_p.Q1584H|HIVEP3_uc001cgy.2_RNA	p.Q1584H	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	5965	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1584					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4752A>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	T	9.877	1.200574	0.22121	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05925	3.38;3.37;3.37;3.38	5.55	1.96	0.26148	.	0.125626	0.36893	N	0.002343	T	0.05547	0.0146	L	0.44542	1.39	0.32542	N	0.533574	B;B	0.16802	0.019;0.011	B;B	0.15052	0.012;0.005	T	0.10474	-1.0628	10	0.35671	T	0.21	-12.1286	6.1862	0.20498	0.0:0.2336:0.1311:0.6353	.	1584;1584	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	1584	ENSP00000361665:Q1584H;ENSP00000361664:Q1584H;ENSP00000247584:Q1584H;ENSP00000410828:Q1584H	ENSP00000247584:Q1584H	Q	-	3	2	HIVEP3	41818304	0.997000	0.39634	1.000000	0.80357	0.968000	0.65278	0.817000	0.27281	0.546000	0.28920	0.533000	0.62120	CAA		PASS	0.488	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		43	31	43	31	---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43218306	43218306	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:43218306G>A	ENST00000296388.5	-	9	1426	c.1375C>T	c.(1375-1377)Ctc>Ttc	p.L459F	LEPRE1_ENST00000397054.3_Missense_Mutation_p.L459F|LEPRE1_ENST00000236040.4_Missense_Mutation_p.L459F			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	459					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.L459F(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCATGGTGAGACTGATGCCT	0.507																																						uc001chv.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)	4						c.(1375-1377)CTC>TTC		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						93.0	78.0	83.0					1																	43218306		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43218306G>A	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1375C>T	1.37:g.43218306G>A	ENSP00000296388:p.Leu459Phe					LEPRE1_uc001chw.2_Missense_Mutation_p.L459F|LEPRE1_uc001chx.3_Missense_Mutation_p.L459F	p.L459F	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			9	1488	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	459					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.1375C>T	CCDS472.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.18|17.18	3.323735|3.323735	0.60634|0.60634	.|.	.|.	ENSG00000117385|ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027|ENST00000447502	T;T;T|T	0.73897|0.63417	-0.79;-0.79;-0.79|-0.04	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.129436|.	0.51477|.	D|.	0.000096|.	T|T	0.52821|0.52821	0.1758|0.1758	N|N	0.21282|0.21282	0.65|0.65	0.33411|0.33411	D|D	0.578686|0.578686	D;P;P|.	0.60575|.	0.988;0.818;0.944|.	P;B;B|.	0.58520|.	0.84;0.296;0.383|.	T|T	0.60535|0.60535	-0.7244|-0.7244	10|6	0.35671|.	T|.	0.21|.	-28.0924|-28.0924	11.4228|11.4228	0.49991|0.49991	0.0:0.1821:0.8179:0.0|0.0:0.1821:0.8179:0.0	.|.	459;324;459|.	Q32P28-3;B4DNM8;Q32P28|.	.;.;P3H1_HUMAN|.	F|F	459;459;459;324|50	ENSP00000380245:L459F;ENSP00000236040:L459F;ENSP00000296388:L459F|ENSP00000394294:S50F	ENSP00000236040:L459F|.	L|S	-|-	1|2	0|0	LEPRE1|LEPRE1	42990893|42990893	0.986000|0.986000	0.35501|0.35501	0.957000|0.957000	0.39632|0.39632	0.966000|0.966000	0.64601|0.64601	2.353000|2.353000	0.44089|0.44089	2.595000|2.595000	0.87683|0.87683	0.457000|0.457000	0.33378|0.33378	CTC|TCT		PASS	0.507	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		19	30	19	30	---	---	---	---
HECTD3	79654	broad.mit.edu	37	1	45469399	45469399	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:45469399C>T	ENST00000372172.4	-	20	2514	c.2443G>A	c.(2443-2445)Gac>Aac	p.D815N	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Missense_Mutation_p.D425N	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	815	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D531N(1)|p.D815N(1)|p.D425N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCAGCGCGTCTGTGGTCTCG	0.612																																						uc009vxk.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2443-2445)GAC>AAC		HECT domain containing 3							62.0	70.0	68.0					1																	45469399		2086	4226	6312	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45469399C>T	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2443G>A	1.37:g.45469399C>T	ENSP00000361245:p.Asp815Asn					HECTD3_uc001cmx.3_Missense_Mutation_p.D164N|HECTD3_uc001cmy.3_Missense_Mutation_p.D425N|HECTD3_uc010olh.1_Missense_Mutation_p.D531N	p.D815N	NM_024602	NP_078878	Q5T447	HECD3_HUMAN			20	2541	-	Acute lymphoblastic leukemia(166;0.155)		815			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.2443G>A	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	36	5.635964	0.96693	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.46063	0.88;0.88	5.74	5.74	0.90152	HECT (4);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39245	1.2	0.80722	D	1	D;P	0.69078	0.997;0.724	D;B	0.83275	0.996;0.189	T	0.52457	-0.8573	10	0.39692	T	0.17	.	19.9233	0.97095	0.0:1.0:0.0:0.0	.	815;425	Q5T447;Q5T447-2	HECD3_HUMAN;.	N	815;425	ENSP00000361245:D815N;ENSP00000361241:D425N	ENSP00000361241:D425N	D	-	1	0	HECTD3	45241986	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	7.531000	0.81973	2.717000	0.92951	0.558000	0.71614	GAC		PASS	0.612	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		11	32	11	32	---	---	---	---
PDZK1IP1	10158	broad.mit.edu	37	1	47653062	47653062	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:47653062G>A	ENST00000294338.2	-	2	227	c.105C>T	c.(103-105)atC>atT	p.I35I	PDZK1IP1_ENST00000371885.1_Silent_p.I35I|PDZK1IP1_ENST00000491793.1_5'Flank	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	35						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.I35I(1)		endometrium(1)|lung(1)|prostate(1)	3						CGGCCACCGCGATAAGGCCCT	0.632																																						uc001cqw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(103-105)ATC>ATT		PDZK1 interacting protein 1							73.0	62.0	66.0					1																	47653062		2203	4300	6503	SO:0001819	synonymous_variant	10158					integral to membrane		g.chr1:47653062G>A	U21049	CCDS546.1	1p33	2008-02-05			ENSG00000162366	ENSG00000162366			16887	protein-coding gene	gene with protein product		607178				9815914, 8701988, 12754212, 12837682	Standard	NM_005764		Approved	DD96, MAP17, SPAP	uc001cqw.3	Q13113	OTTHUMG00000007852	ENST00000294338.2:c.105C>T	1.37:g.47653062G>A							p.I35I	NM_005764	NP_005755	Q13113	PDZ1I_HUMAN			2	272	-			35			Helical; (Potential).		Q6ICT9|Q96EI1	Silent	SNP	ENST00000294338.2	37	c.105C>T	CCDS546.1																																																																																				PASS	0.632	PDZK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021655.1	NM_005764		9	22	9	22	---	---	---	---
RAB3B	5865	broad.mit.edu	37	1	52442657	52442657	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:52442657C>T	ENST00000371655.3	-	2	345	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	45					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.D45N(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						GTGAACGTGTCATCAGCATAG	0.502																																						uc001cth.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(133-135)GAC>AAC		RAB3B, member RAS oncogene family							188.0	140.0	156.0					1																	52442657		2203	4300	6503	SO:0001583	missense	5865				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:52442657C>T	BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"""RAB, member RAS oncogene"""	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.133G>A	1.37:g.52442657C>T	ENSP00000360718:p.Asp45Asn						p.D45N	NM_002867	NP_002858	P20337	RAB3B_HUMAN			2	258	-			45					Q5VUL2|Q9BSI1	Missense_Mutation	SNP	ENST00000371655.3	37	c.133G>A	CCDS560.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673904	0.88445	.	.	ENSG00000169213	ENST00000371655;ENST00000537650	T	0.79940	-1.32	5.49	5.49	0.81192	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	N	0.02802	-0.49	0.80722	D	1	B	0.31625	0.332	P	0.47786	0.557	T	0.79014	-0.1976	10	0.72032	D	0.01	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	45	P20337	RAB3B_HUMAN	N	45	ENSP00000360718:D45N	ENSP00000360718:D45N	D	-	1	0	RAB3B	52215245	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.538000	0.82048	2.865000	0.98341	0.655000	0.94253	GAC		PASS	0.502	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023816.1	NM_002867		23	64	23	64	---	---	---	---
ATG4C	84938	broad.mit.edu	37	1	63270862	63270862	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:63270862G>C	ENST00000317868.4	+	3	303	c.96G>C	c.(94-96)aaG>aaC	p.K32N	ATG4C_ENST00000371120.3_Missense_Mutation_p.K32N	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	32					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.K32N(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TGAAAACAAAGACGTATTTTA	0.254																																						uc001dat.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(94-96)AAG>AAC		APG4 autophagy 4 homolog C isoform 8							43.0	47.0	46.0					1																	63270862		2182	4270	6452	SO:0001583	missense	84938				autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity	g.chr1:63270862G>C	AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.96G>C	1.37:g.63270862G>C	ENSP00000322159:p.Lys32Asn					ATG4C_uc001dau.2_Missense_Mutation_p.K32N	p.K32N	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN			3	258	+			32					A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	c.96G>C	CCDS623.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251011	0.59212	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000443289;ENST00000540025;ENST00000371118	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.54	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	M	0.79926	2.475	0.54753	D	0.999984	D	0.76494	0.999	D	0.75484	0.986	T	0.54840	-0.8233	10	0.59425	D	0.04	-13.9959	7.0427	0.25029	0.3779:0.0:0.6221:0.0	.	32	Q96DT6	ATG4C_HUMAN	N	32	ENSP00000322159:K32N;ENSP00000360161:K32N;ENSP00000396614:K32N;ENSP00000360159:K32N	ENSP00000322159:K32N	K	+	3	2	ATG4C	63043450	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	3.437000	0.52863	0.699000	0.31761	0.650000	0.86243	AAG		PASS	0.254	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		3	11	3	11	---	---	---	---
SLC35D1	23169	broad.mit.edu	37	1	67518532	67518532	+	Silent	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:67518532G>T	ENST00000235345.5	-	3	331	c.246C>A	c.(244-246)gcC>gcA	p.A82A	SLC35D1_ENST00000506472.2_Silent_p.A3A	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	82			A -> T (in dbSNP:rs10157422).		carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)	p.A82A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						CTGCCACTGTGGCCACCATCT	0.433																																						uc001ddk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)GCC>GCA		solute carrier family 35 (UDP-glucuronic	Lorazepam(DB00186)						135.0	127.0	130.0					1																	67518532		2203	4300	6503	SO:0001819	synonymous_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67518532G>T	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.246C>A	1.37:g.67518532G>T						SLC35D1_uc010oph.1_Silent_p.A3A	p.A82A	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN			3	630	-			82			Helical; (Potential).		A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	c.246C>A	CCDS636.1																																																																																				PASS	0.433	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		5	78	5	78	---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102270309	102270309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:102270309G>A	ENST00000338858.5	-	6	921	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Nonsense_Mutation_p.Q288*			Q96PB7	NOE3_HUMAN	olfactomedin 3	308	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.Q308*(1)|p.Q288*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ATATTACTCTGATACTTGTTA	0.423																																						uc001duf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(922-924)CAG>TAG		olfactomedin 3							95.0	93.0	93.0					1																	102270309		2203	4300	6503	SO:0001587	stop_gained	118427					extracellular region		g.chr1:102270309G>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.922C>T	1.37:g.102270309G>A	ENSP00000345192:p.Gln308*					OLFM3_uc001dug.2_Nonsense_Mutation_p.Q288*|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Nonsense_Mutation_p.Q213*|OLFM3_uc001due.2_RNA	p.Q308*	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	993	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	308			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Nonsense_Mutation	SNP	ENST00000338858.5	37	c.922C>T		.	.	.	.	.	.	.	.	.	.	G	27.2	4.807459	0.90623	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.0559	0.93064	0.0:0.0:1.0:0.0	.	.	.	.	X	159;288;308	.	ENSP00000345192:Q308X	Q	-	1	0	OLFM3	102042897	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.903000	0.87398	2.510000	0.84645	0.650000	0.86243	CAG		PASS	0.423	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			17	12	17	12	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120464395	120464395	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:120464395C>A	ENST00000256646.2	-	29	5470	c.5251G>T	c.(5251-5253)Ggt>Tgt	p.G1751C	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1751					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.G1751C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCCAGTACCAATTAGGTTA	0.398			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Missense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(5251-5253)GGT>TGT		notch 2 preproprotein							136.0	127.0	130.0					1																	120464395		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120464395C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5251G>T	1.37:g.120464395C>A	ENSP00000256646:p.Gly1751Cys						p.G1751C	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	29	5507	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1751			Cytoplasmic (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5251G>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969531	0.74246	.	.	ENSG00000134250	ENST00000256646	D	0.82893	-1.66	5.2	5.2	0.72013	.	0.194811	0.25096	U	0.033162	T	0.68714	0.3031	N	0.16790	0.44	0.35302	D	0.783082	D	0.56287	0.975	P	0.45946	0.498	T	0.72697	-0.4215	10	0.39692	T	0.17	.	17.9136	0.88942	0.0:1.0:0.0:0.0	.	1751	Q04721	NOTC2_HUMAN	C	1751	ENSP00000256646:G1751C	ENSP00000256646:G1751C	G	-	1	0	NOTCH2	120265918	0.999000	0.42202	0.999000	0.59377	0.928000	0.56348	3.271000	0.51608	2.706000	0.92434	0.563000	0.77884	GGT		PASS	0.398	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		4	44	4	44	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144921868	144921868	+	Silent	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:144921868T>C	ENST00000369354.3	-	9	1350	c.1161A>G	c.(1159-1161)gaA>gaG	p.E387E	PDE4DIP_ENST00000479408.2_Silent_p.E174E|PDE4DIP_ENST00000313431.9_Silent_p.E550E|PDE4DIP_ENST00000369349.3_Silent_p.E387E|PDE4DIP_ENST00000529945.1_Silent_p.E550E|PDE4DIP_ENST00000369356.4_Silent_p.E387E|PDE4DIP_ENST00000313382.9_Silent_p.E453E|PDE4DIP_ENST00000369351.3_Silent_p.E387E|PDE4DIP_ENST00000369359.4_Silent_p.E524E|PDE4DIP_ENST00000530740.1_Silent_p.E524E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	387					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E387E(2)|p.E550E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTTCTGCTGTTCACTCTCGT	0.438			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		3	Substitution - coding silent(3)		lung(3)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1159-1161)GAA>GAG		phosphodiesterase 4D interacting protein isoform							406.0	427.0	420.0					1																	144921868		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144921868T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1161A>G	1.37:g.144921868T>C						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.E453E|PDE4DIP_uc001emc.1_Silent_p.E387E|PDE4DIP_uc001emd.1_Silent_p.E387E|PDE4DIP_uc001emb.1_Silent_p.E550E|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Silent_p.E174E	p.E387E	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	9	1452	-			387			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.1161A>G	CCDS30824.1																																																																																				PASS	0.438	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		34	233	34	233	---	---	---	---
OTUD7B	56957	broad.mit.edu	37	1	149916189	149916189	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:149916189C>T	ENST00000369135.4	-	12	2393	c.2099G>A	c.(2098-2100)cGg>cAg	p.R700Q		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	700					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R700Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCCAGACGGCCGAGGGATAGT	0.642																																						uc001etn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2098-2100)CGG>CAG		zinc finger protein Cezanne							37.0	41.0	39.0					1																	149916189		1890	4100	5990	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916189C>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.2099G>A	1.37:g.149916189C>T	ENSP00000358131:p.Arg700Gln						p.R700Q	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	2455	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		700					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.2099G>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	c	18.36	3.607073	0.66558	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.34275	1.37	4.49	4.49	0.54785	.	0.233267	0.36778	N	0.002401	T	0.21550	0.0519	L	0.43152	1.355	0.46874	D	0.999231	D	0.54047	0.964	B	0.42495	0.389	T	0.02020	-1.1228	9	.	.	.	-2.2663	15.9351	0.79698	0.0:1.0:0.0:0.0	.	700	Q6GQQ9	OTU7B_HUMAN	Q	700	ENSP00000358131:R700Q	.	R	-	2	0	OTUD7B	148182813	0.176000	0.23096	0.879000	0.34478	0.537000	0.34900	2.293000	0.43558	2.338000	0.79540	0.552000	0.68991	CGG		PASS	0.642	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		21	16	21	16	---	---	---	---
CGN	57530	broad.mit.edu	37	1	151508751	151508751	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:151508751A>T	ENST00000271636.7	+	19	3369	c.3236A>T	c.(3235-3237)gAg>gTg	p.E1079V		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1073					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.E1079V(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGAAAACTGGAGCGGAAAGTT	0.483																																						uc009wmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3235-3237)GAG>GTG		cingulin							74.0	75.0	74.0					1																	151508751		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151508751A>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3236A>T	1.37:g.151508751A>T	ENSP00000271636:p.Glu1079Val					CGN_uc010pde.1_Missense_Mutation_p.E73V	p.E1079V	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		19	3380	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1073			Potential.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.3236A>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881131	0.91740	.	.	ENSG00000143375	ENST00000271636	D	0.82984	-1.67	5.65	5.65	0.86999	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92460	0.5977	10	0.87932	D	0	-28.8634	14.6965	0.69126	1.0:0.0:0.0:0.0	.	1073	Q9P2M7	CING_HUMAN	V	1079	ENSP00000271636:E1079V	ENSP00000271636:E1079V	E	+	2	0	CGN	149775375	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.564000	0.90726	2.163000	0.67991	0.533000	0.62120	GAG		PASS	0.483	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		23	69	23	69	---	---	---	---
LCE1C	353133	broad.mit.edu	37	1	152777718	152777718	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:152777718G>T	ENST00000607093.1	-	1	236	c.237C>A	c.(235-237)caC>caA	p.H79Q	LCE1C_ENST00000368768.1_Missense_Mutation_p.H79Q			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	79	Gly-rich.				keratinization (GO:0031424)			p.H79Q(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCGCCTGTGGTGGCTCAGGC	0.706																																						uc001fap.1																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)CAC>CAA		late cornified envelope 1C							31.0	38.0	36.0					1																	152777718		2202	4296	6498	SO:0001583	missense	353133				keratinization			g.chr1:152777718G>T		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.237C>A	1.37:g.152777718G>T	ENSP00000475270:p.His79Gln						p.H79Q	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	288	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		79			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.237C>A	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	G	9.468	1.094910	0.20471	.	.	ENSG00000197084	ENST00000368768	T	0.04049	3.72	3.38	2.45	0.29901	.	0.000000	0.37053	N	0.002266	T	0.08891	0.0220	M	0.78456	2.415	0.24216	N	0.995459	D	0.69078	0.997	D	0.75484	0.986	T	0.04373	-1.0956	10	0.87932	D	0	.	5.8281	0.18564	0.1465:0.0:0.8535:0.0	.	79	Q5T751	LCE1C_HUMAN	Q	79	ENSP00000357757:H79Q	ENSP00000357757:H79Q	H	-	3	2	LCE1C	151044342	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.764000	0.55264	1.883000	0.54544	0.655000	0.94253	CAC		PASS	0.706	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		23	21	23	21	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154026870	154026870	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:154026870C>G	ENST00000368559.3	-	25	3388	c.3317G>C	c.(3316-3318)gGt>gCt	p.G1106A	NUP210L_ENST00000271854.3_Missense_Mutation_p.G1106A|NUP210L_ENST00000368553.1_Missense_Mutation_p.G39A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1106					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.G1106A(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGGGGGCCACCTTCAGACAT	0.448																																						uc001fdw.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(3316-3318)GGT>GCT		nucleoporin 210kDa-like isoform 1							82.0	80.0	81.0					1																	154026870		1917	4112	6029	SO:0001583	missense	91181					integral to membrane		g.chr1:154026870C>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3317G>C	1.37:g.154026870C>G	ENSP00000357547:p.Gly1106Ala					NUP210L_uc009woq.2_Missense_Mutation_p.G15A|NUP210L_uc010peh.1_Missense_Mutation_p.G1106A	p.G1106A	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		25	3389	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1106					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3317G>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348839	0.82132	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.41065	1.01;1.01;1.01	5.03	5.03	0.67393	Bacterial Ig-like, group 2 (2);Invasin/intimin cell-adhesion (1);	0.000000	0.64402	D	0.000009	T	0.64438	0.2598	M	0.86740	2.835	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.70506	-0.4853	10	0.72032	D	0.01	-14.3728	16.3187	0.82938	0.0:1.0:0.0:0.0	.	1106;1106	E7EP56;Q5VU65	.;P210L_HUMAN	A	1106;39;1106	ENSP00000357547:G1106A;ENSP00000357541:G39A;ENSP00000271854:G1106A	ENSP00000271854:G1106A	G	-	2	0	NUP210L	152293494	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.342000	0.72982	2.616000	0.88540	0.563000	0.77884	GGT		PASS	0.448	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		17	29	17	29	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158736433	158736433	+	Missense_Mutation	SNP	T	T	C	rs566032009		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:158736433T>C	ENST00000335094.2	-	1	59	c.40A>G	c.(40-42)Atc>Gtc	p.I14V		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I14V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AAGCCCAAGATGATGAATTCT	0.458																																						uc010piq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)ATC>GTC		olfactory receptor, family 6, subfamily N,							53.0	49.0	50.0					1																	158736433		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736433T>C	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.40A>G	1.37:g.158736433T>C	ENSP00000335535:p.Ile14Val						p.I14V	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	40	-	all_hematologic(112;0.0378)		14			Extracellular (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.40A>G	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513238	0.27123	.	.	ENSG00000197403	ENST00000335094	T	0.00505	6.93	4.83	2.52	0.30459	.	0.000000	0.46145	D	0.000304	T	0.00144	0.0004	L	0.28694	0.88	0.25003	N	0.991451	B	0.29988	0.264	B	0.26693	0.072	T	0.44019	-0.9355	10	0.87932	D	0	-12.0222	5.0569	0.14537	0.0:0.1702:0.1552:0.6745	.	14	Q8NGY5	OR6N1_HUMAN	V	14	ENSP00000335535:I14V	ENSP00000335535:I14V	I	-	1	0	OR6N1	157003057	0.931000	0.31567	0.976000	0.42696	0.910000	0.53928	0.522000	0.22909	0.339000	0.23719	0.533000	0.62120	ATC		PASS	0.458	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		15	19	15	19	---	---	---	---
KCNJ10	3766	broad.mit.edu	37	1	160011200	160011200	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:160011200G>T	ENST00000368089.3	-	2	1349	c.1123C>A	c.(1123-1125)Cgc>Agc	p.R375S	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	375					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)	p.R375S(1)|p.R375C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TTGCTGATGCGCACACTAAGG	0.532																																					GBM(167;1368 2014 14817 36425 43215)	uc001fuw.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(1)	1						c.(1123-1125)CGC>AGC		potassium inwardly-rectifying channel, subfamily							96.0	72.0	80.0					1																	160011200		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011200G>T	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.1123C>A	1.37:g.160011200G>T	ENSP00000357068:p.Arg375Ser						p.R375S	NM_002241	NP_002232	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	1273	-	all_hematologic(112;0.093)		375			Cytoplasmic (By similarity).		A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.1123C>A	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471511	0.43942	.	.	ENSG00000177807	ENST00000368089	D	0.89617	-2.54	4.77	4.77	0.60923	.	0.000000	0.44902	D	0.000419	T	0.74786	0.3762	N	0.24115	0.695	0.54753	D	0.999987	D	0.56035	0.974	B	0.42030	0.373	T	0.81174	-0.1053	10	0.87932	D	0	.	10.4021	0.44235	0.0:0.0:0.8053:0.1947	.	375	P78508	IRK10_HUMAN	S	375	ENSP00000357068:R375S	ENSP00000357068:R375S	R	-	1	0	KCNJ10	158277824	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.070000	0.50033	2.489000	0.83994	0.655000	0.94253	CGC		PASS	0.532	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		9	5	9	5	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177302	165177303	+	Missense_Mutation	DNP	GA	GA	TC			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:165177302_165177303GA>TC	ENST00000342310.3	-	7	1196_1197	c.814_815TC>GA	c.(814-816)TCt>GAt	p.S272D	RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.S272D|LMX1A_ENST00000367893.4_Missense_Mutation_p.S272D	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	272	Gln-rich.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|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.S272D(1)|p.S272A(1)|p.S272Y(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGCTTACCAGAGCTCAGCCTC	0.554																																						uc001gcy.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(814-816)TCT>TAT|c.(814-816)TCT>GCT		LIM homeobox transcription factor 1, alpha																																				SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177302G>T|g.chr1:165177303A>C	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.814_815delinsTC	1.37:g.165177302_165177303delinsTC	ENSP00000340226:p.Ser272Asp					LMX1A_uc001gcz.1_Missense_Mutation_p.S272Y|LMX1A_uc001gcw.1_Translation_Start_Site|LMX1A_uc001gcx.1_Missense_Mutation_p.S23Y|LMX1A_uc001gcz.1_Missense_Mutation_p.S272A|LMX1A_uc001gcw.1_5'UTR|LMX1A_uc001gcx.1_Missense_Mutation_p.S23A	p.S272Y|p.S272A	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN			6	1036|1035	-	all_hematologic(923;0.248)		272			Gln-rich.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.815C>A|c.814T>G	CCDS1247.1																																																																																				PASS	0.554	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		7	17	7	17	---	---	---	---
PRRX1	5396	broad.mit.edu	37	1	170689004	170689004	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:170689004C>G	ENST00000239461.6	+	2	692	c.379C>G	c.(379-381)Ctt>Gtt	p.L127V	PRRX1_ENST00000497230.2_Missense_Mutation_p.L127V|PRRX1_ENST00000367760.3_Missense_Mutation_p.L127V	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	127					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.L127V(2)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCGAGAAGACCTTGCCCGCCG	0.552																																						uc001ghf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(379-381)CTT>GTT		paired mesoderm homeobox 1 isoform pmx-1b							117.0	104.0	108.0					1																	170689004		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170689004C>G	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.379C>G	1.37:g.170689004C>G	ENSP00000239461:p.Leu127Val					PRRX1_uc001ghe.2_Missense_Mutation_p.L127V	p.L127V	NM_022716	NP_073207	P54821	PRRX1_HUMAN			2	426	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		127			Homeobox.		B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.379C>G	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331703	0.81690	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05	5.43	4.52	0.55395	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.192040	0.45867	D	0.000339	D	0.98979	0.9652	M	0.88775	2.98	0.80722	D	1	P;D	0.56035	0.934;0.974	P;D	0.67725	0.708;0.953	D	0.99572	1.0971	10	0.87932	D	0	.	12.5775	0.56371	0.0:0.9198:0.0:0.0802	.	127;127	P54821;P54821-2	PRRX1_HUMAN;.	V	80;127;127;127	ENSP00000451943:L80V;ENSP00000356734:L127V;ENSP00000239461:L127V;ENSP00000450762:L127V	ENSP00000239461:L127V	L	+	1	0	PRRX1	168955628	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	2.697000	0.47060	1.274000	0.44362	0.655000	0.94253	CTT		PASS	0.552	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		13	39	13	39	---	---	---	---
FMO4	2329	broad.mit.edu	37	1	171310617	171310617	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:171310617C>T	ENST00000367749.3	+	10	1646	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	439					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.A439V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GATATCGCTGCCTGCATAGGC	0.458																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(1315-1317)GCC>GTC		flavin containing monooxygenase 4							101.0	84.0	90.0					1																	171310617		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171310617C>T	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1316C>T	1.37:g.171310617C>T	ENSP00000356723:p.Ala439Val						p.A439V	NM_002022	NP_002013	P31512	FMO4_HUMAN			10	1533	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		439					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.1316C>T	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939922	0.34283	.	.	ENSG00000076258	ENST00000367749	T	0.57907	0.37	5.52	3.49	0.39957	.	0.591647	0.18744	N	0.132368	T	0.24509	0.0594	L	0.41124	1.26	0.09310	N	1	B	0.16603	0.018	B	0.23018	0.043	T	0.17107	-1.0380	10	0.34782	T	0.22	-1.922	11.3462	0.49563	0.1463:0.721:0.1327:0.0	.	439	P31512	FMO4_HUMAN	V	439	ENSP00000356723:A439V	ENSP00000356723:A439V	A	+	2	0	FMO4	169577241	0.000000	0.05858	0.002000	0.10522	0.063000	0.16089	0.689000	0.25437	1.265000	0.44215	0.655000	0.94253	GCC		PASS	0.458	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		8	24	8	24	---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	175958605	175958605	+	Silent	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:175958605G>C	ENST00000367669.3	-	16	2254	c.1740C>G	c.(1738-1740)gtC>gtG	p.V580V	RFWD2_ENST00000308769.8_Silent_p.V556V	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	580					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.V580V(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CATAGTAGTGGACACAGTGAT	0.328																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1738-1740)GTC>GTG		ring finger and WD repeat domain 2 isoform a							102.0	90.0	94.0					1																	175958605		2203	4300	6503	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:175958605G>C	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1740C>G	1.37:g.175958605G>C						RFWD2_uc001gkv.1_Silent_p.V556V|RFWD2_uc001gkw.1_Silent_p.V340V|RFWD2_uc009wwv.2_Silent_p.V379V|RFWD2_uc001gkt.1_Silent_p.V419V	p.V580V	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			16	1996	-			580			WD 4.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.1740C>G	CCDS30944.1																																																																																				PASS	0.328	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		10	33	10	33	---	---	---	---
KIAA1614	57710	broad.mit.edu	37	1	180886140	180886140	+	Missense_Mutation	SNP	C	C	A	rs79485039	byFrequency	TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:180886140C>A	ENST00000367588.4	+	2	956	c.901C>A	c.(901-903)Cgc>Agc	p.R301S		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	301								p.R301S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGAGAAACCGCCTGTTGCT	0.642																																						uc001gok.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(901-903)CGC>AGC		hypothetical protein LOC57710							49.0	58.0	55.0					1																	180886140		2044	4200	6244	SO:0001583	missense	57710							g.chr1:180886140C>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.901C>A	1.37:g.180886140C>A	ENSP00000356560:p.Arg301Ser						p.R301S	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			2	968	+			301					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.901C>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252227	0.80135	.	.	ENSG00000135835	ENST00000367588	T	0.37411	1.2	4.57	4.57	0.56435	.	0.000000	0.37623	N	0.002018	T	0.54647	0.1871	L	0.54323	1.7	0.25748	N	0.985082	D	0.89917	1.0	D	0.91635	0.999	T	0.64300	-0.6440	9	0.72032	D	0.01	-6.5006	14.4045	0.67073	0.0:1.0:0.0:0.0	.	301	Q5VZ46	K1614_HUMAN	S	301	ENSP00000356560:R301S	ENSP00000356560:R301S	R	+	1	0	KIAA1614	179152763	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.596000	0.54024	2.372000	0.80975	0.563000	0.77884	CGC		PASS	0.642	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		12	25	12	25	---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183532587	183532587	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:183532587A>C	ENST00000367535.3	-	12	1411	c.1160T>G	c.(1159-1161)cTg>cGg	p.L387R	NCF2_ENST00000367536.1_Missense_Mutation_p.L387R|NCF2_ENST00000413720.1_Missense_Mutation_p.L342R|NCF2_ENST00000418089.1_Missense_Mutation_p.L306R|NCF2_ENST00000469280.1_5'UTR	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	387	OPR.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.L387R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	AGTGTGTTCCAGCCGGAGCTC	0.572																																						uc001gqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1159-1161)CTG>CGG		neutrophil cytosolic factor 2							128.0	133.0	131.0					1																	183532587		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183532587A>C	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1160T>G	1.37:g.183532587A>C	ENSP00000356505:p.Leu387Arg					NCF2_uc010pod.1_Missense_Mutation_p.L342R|NCF2_uc010poe.1_Missense_Mutation_p.L306R|NCF2_uc001gqk.3_Missense_Mutation_p.L387R	p.L387R	NM_000433	NP_000424	P19878	NCF2_HUMAN			12	1435	-			387			OPR.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.1160T>G	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.113225	0.37339	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	5.74	3.86	0.44501	Phox/Bem1p (2);	0.175589	0.53938	D	0.000050	T	0.13543	0.0328	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.32071	0.301;0.355;0.178	B;B;B	0.40702	0.14;0.338;0.187	T	0.28396	-1.0045	10	0.28530	T	0.3	-59.5615	10.0271	0.42079	0.1579:0.0:0.8421:0.0	.	306;342;387	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	R	387;459;342;306;387;38;126	ENSP00000356506:L387R;ENSP00000399294:L342R;ENSP00000407217:L306R;ENSP00000356505:L387R;ENSP00000397228:L38R;ENSP00000406198:L126R	ENSP00000356505:L387R	L	-	2	0	NCF2	181799210	0.975000	0.34042	0.038000	0.18304	0.841000	0.47740	2.899000	0.48679	0.765000	0.33221	-0.248000	0.11899	CTG		PASS	0.572	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		52	127	52	127	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				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.T460A(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						CAAGGAGCCTACACCCACCAC	0.657																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1378-1380)ACA>GCA		proteoglycan 4 isoform A							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	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.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_uc001grt.3_Missense_Mutation_p.T419A|PRG4_uc009wyl.2_Missense_Mutation_p.T367A|PRG4_uc009wym.2_Missense_Mutation_p.T326A|PRG4_uc010poo.1_Intron	p.T460A	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1429	+			460			15.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		PASS	0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	79	4	79	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190250825	190250825	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:190250825C>A	ENST00000367462.3	-	3	523	c.292G>T	c.(292-294)Ggc>Tgc	p.G98C	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	98	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.G98C(1)									AGAGGAGAGCCAAGGAAATTT	0.398																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(292-294)GGC>TGC		family with sequence similarity 5, member C							82.0	78.0	79.0					1																	190250825		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190250825C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.292G>T	1.37:g.190250825C>A	ENSP00000356432:p.Gly98Cys					FAM5C_uc010pot.1_Intron	p.G98C	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			3	524	-	Prostate(682;0.198)		98					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.292G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962885	0.74016	.	.	ENSG00000162670	ENST00000367462	D	0.84223	-1.82	5.88	5.88	0.94601	Membrane attack complex component/perforin (MACPF) domain (2);	0.062084	0.64402	D	0.000003	D	0.88134	0.6355	L	0.44542	1.39	0.80722	D	1	D	0.63046	0.992	P	0.57425	0.82	D	0.88412	0.3022	10	0.62326	D	0.03	.	17.7103	0.88319	0.0:1.0:0.0:0.0	.	98	Q76B58	FAM5C_HUMAN	C	98	ENSP00000356432:G98C	ENSP00000356432:G98C	G	-	1	0	FAM5C	188517448	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.838000	0.62803	2.787000	0.95880	0.585000	0.79938	GGC		PASS	0.398	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		9	27	9	27	---	---	---	---
CSRP1	1465	broad.mit.edu	37	1	201458112	201458112	+	Splice_Site	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:201458112T>A	ENST00000367306.1	-	5	645	c.282A>T	c.(280-282)gaA>gaT	p.E94D	CSRP1_ENST00000533432.1_Splice_Site_p.E94D|CSRP1_ENST00000340006.2_Splice_Site_p.E94D|CSRP1_ENST00000532460.1_Splice_Site_p.E94D|CSRP1_ENST00000531916.1_Splice_Site_p.E94D|CSRP1_ENST00000526723.1_Splice_Site_p.E61D|CSRP1_ENST00000458271.2_5'UTR			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	94					platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E94D(1)		large_intestine(3)|lung(2)|ovary(1)	6						GGCCAGGGGCTCTGCATGGAG	0.592																																						uc001gws.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(280-282)GAA>GAT		cysteine and glycine-rich protein 1 isoform 1							58.0	58.0	58.0					1																	201458112		2203	4300	6503	SO:0001630	splice_region_variant	1465					nucleus	zinc ion binding	g.chr1:201458112T>A	M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.282-1A>T	1.37:g.201458112T>A						CSRP1_uc001gwr.1_RNA|CSRP1_uc010ppr.1_Missense_Mutation_p.E94D|CSRP1_uc010pps.1_Missense_Mutation_p.E94D	p.E94D	NM_004078	NP_004069	P21291	CSRP1_HUMAN			4	473	-			94					A8K268|Q5U0J2	Missense_Mutation	SNP	ENST00000367306.1	37	c.282A>T	CCDS1413.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688971	0.29962	.	.	ENSG00000159176	ENST00000367306;ENST00000340006;ENST00000531916;ENST00000532460;ENST00000533432;ENST00000526723;ENST00000524951	T;T;T;T;T;T;T	0.72282	-0.12;-0.12;-0.64;-0.12;-0.12;-0.27;-0.3	5.53	1.26	0.21427	.	0.498381	0.23007	N	0.053010	T	0.48132	0.1483	L	0.27053	0.805	0.42219	D	0.991844	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.14615	-1.0466	10	0.12766	T	0.61	.	4.6276	0.12486	0.0:0.4242:0.2971:0.2787	.	94;94;94	B4E2T4;B4DY28;P21291	.;.;CSRP1_HUMAN	D	94;94;94;94;94;61;57	ENSP00000356275:E94D;ENSP00000345079:E94D;ENSP00000432110:E94D;ENSP00000434147:E94D;ENSP00000436792:E94D;ENSP00000436491:E61D;ENSP00000437218:E57D	ENSP00000345079:E94D	E	-	3	2	CSRP1	199724735	0.377000	0.25106	0.896000	0.35187	0.777000	0.43975	0.181000	0.16880	-0.051000	0.13334	-0.468000	0.05107	GAA		PASS	0.592	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087027.1	NM_004078	Missense_Mutation	6	23	6	23	---	---	---	---
IL19	29949	broad.mit.edu	37	1	207013247	207013247	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:207013247G>C	ENST00000270218.6	+	5	1202	c.263G>C	c.(262-264)aGg>aCg	p.R88T	IL19_ENST00000340758.2_Missense_Mutation_p.R126T	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	88					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.R88T(1)|p.R126T(1)		central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TACGTGGACAGGGTGTTCAAG	0.468																																						uc001hep.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(262-264)AGG>ACG		interleukin 19 isoform 2 precursor							270.0	253.0	259.0					1																	207013247		2203	4300	6503	SO:0001583	missense	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207013247G>C	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.263G>C	1.37:g.207013247G>C	ENSP00000270218:p.Arg88Thr					IL19_uc001heo.2_Missense_Mutation_p.R126T|IL19_uc010prx.1_Missense_Mutation_p.R88T	p.R88T	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		5	1202	+			88					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000270218.6	37	c.263G>C	CCDS1469.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585413	0.66105	.	.	ENSG00000142224	ENST00000340758;ENST00000270218	T;T	0.62941	-0.01;-0.01	5.25	2.31	0.28768	Interleukin-10, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.152761	0.64402	D	0.000017	T	0.71492	0.3346	M	0.69823	2.125	0.23435	N	0.997683	D;D;D	0.71674	0.992;0.994;0.998	P;D;D	0.66847	0.762;0.918;0.947	T	0.59418	-0.7458	10	0.42905	T	0.14	.	7.545	0.27761	0.2724:0.0:0.7276:0.0	.	88;88;126	B6VEV9;Q9UHD0;Q5VUT3	.;IL19_HUMAN;.	T	126;88	ENSP00000343000:R126T;ENSP00000270218:R88T	ENSP00000270218:R88T	R	+	2	0	IL19	205079870	0.995000	0.38212	0.984000	0.44739	0.937000	0.57800	0.891000	0.28309	0.794000	0.33899	0.655000	0.94253	AGG		PASS	0.468	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		104	210	104	210	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210024662	210024662	+	Missense_Mutation	SNP	C	C	T	rs140967197	byFrequency	TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:210024662C>T	ENST00000491415.2	+	12	2198	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	714					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T714M(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAAGAGGCCACGTGGACCTGC	0.498																																						uc001hhr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2140-2142)ACG>ATG		digestive-organ expansion factor homolog		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	110.0	91.0	97.0		2141	5.7	0.9	1	dbSNP_134	97	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DIEXF	NM_014388.6	81	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	714/757	210024662	4,13002	2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210024662C>T	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.2141C>T	1.37:g.210024662C>T	ENSP00000419005:p.Thr714Met					C1orf107_uc009xcu.1_Missense_Mutation_p.T429M	p.T714M	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	12	2217	+			714					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.2141C>T	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374546	0.82573	2.27E-4	3.49E-4	ENSG00000117597	ENST00000491415	T	0.47177	0.85	5.73	5.73	0.89815	.	0.235594	0.49305	D	0.000149	T	0.54127	0.1839	L	0.36672	1.1	0.49213	D	0.999762	D	0.53619	0.961	P	0.53102	0.718	T	0.50625	-0.8806	10	0.46703	T	0.11	-0.0336	19.9104	0.97024	0.0:1.0:0.0:0.0	.	714	Q68CQ4	DIEXF_HUMAN	M	714	ENSP00000419005:T714M	ENSP00000419005:T714M	T	+	2	0	DIEXF	208091285	1.000000	0.71417	0.950000	0.38849	0.977000	0.68977	5.682000	0.68182	2.712000	0.92718	0.655000	0.94253	ACG		PASS	0.498	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		7	20	7	20	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237948022	237948022	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:237948022C>A	ENST00000366574.2	+	90	13327	c.13010C>A	c.(13009-13011)cCc>cAc	p.P4337H	RYR2_ENST00000360064.6_Missense_Mutation_p.P4343H|RYR2_ENST00000542537.1_Missense_Mutation_p.P4321H|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4337					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.P4335H(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)			ATGCCAGACCCCACTCAGGAT	0.552																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13009-13011)CCC>CAC		cardiac muscle ryanodine receptor							65.0	65.0	65.0					1																	237948022		1929	4133	6062	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.chr1:237948022C>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.13010C>A	1.37:g.237948022C>A	ENSP00000355533:p.Pro4337His					RYR2_uc010pya.1_Missense_Mutation_p.P752H	p.P4337H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13130	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4337					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13010C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484111	0.84854	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.95035	-3.59;-3.59;-3.59	5.32	5.32	0.75619	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	D	0.000005	D	0.96116	0.8734	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96214	0.9155	10	0.62326	D	0.03	-15.5848	19.2017	0.93713	0.0:1.0:0.0:0.0	.	1311;4337	B4DGV4;Q92736	.;RYR2_HUMAN	H	4337;4343;4321;1311	ENSP00000355533:P4337H;ENSP00000353174:P4343H;ENSP00000443798:P4321H	ENSP00000353174:P4343H	P	+	2	0	RYR2	236014645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.873000	0.69644	2.770000	0.95276	0.650000	0.86243	CCC		PASS	0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	51	20	51	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370853	240370853	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:240370853C>T	ENST00000319653.9	+	5	2971	c.2741C>T	c.(2740-2742)cCt>cTt	p.P914L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	914	FH1.|Pro-rich.				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.P1057L(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)			CCTCCCCCTCCTCTTCCCGGA	0.662																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2740-2742)CCT>CTT		formin 2							42.0	47.0	45.0					1																	240370853		2202	4298	6500	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.chr1:240370853C>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.2741C>T	1.37:g.240370853C>T	ENSP00000318884:p.Pro914Leu					FMN2_uc010pye.1_Missense_Mutation_p.P918L	p.P914L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2966	+	Ovarian(103;0.127)	all_cancers(173;0.013)	914			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2741C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	5.023	0.189913	0.09547	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.89	1.99	0.26369	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.444056	0.21142	N	0.079476	T	0.63462	0.2513	M	0.87547	2.89	0.30385	N	0.781611	B	0.15141	0.012	B	0.16722	0.016	T	0.61178	-0.7115	9	.	.	.	.	9.7945	0.40726	0.0:0.8291:0.0:0.1709	.	914	Q9NZ56	FMN2_HUMAN	L	914	ENSP00000318884:P914L	.	P	+	2	0	FMN2	238437476	0.991000	0.36638	0.012000	0.15200	0.265000	0.26407	2.304000	0.43655	0.423000	0.26033	0.305000	0.20034	CCT		PASS	0.662	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		15	31	15	31	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247587725	247587725	+	Missense_Mutation	SNP	G	G	C	rs200158304		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:247587725G>C	ENST00000336119.3	+	3	1726	c.980G>C	c.(979-981)cGg>cCg	p.R327P	NLRP3_ENST00000366497.2_Missense_Mutation_p.R327P|NLRP3_ENST00000391827.2_Missense_Mutation_p.R327P|NLRP3_ENST00000348069.2_Missense_Mutation_p.R327P|NLRP3_ENST00000366496.2_Missense_Mutation_p.R327P|NLRP3_ENST00000391828.3_Missense_Mutation_p.R327P|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	327	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.R327P(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAGGCCGAGCGGGGAGACATT	0.587																																						uc001icr.2																			1	Substitution - Missense(1)	p.R327G(1)	lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(979-981)CGG>CCG		NLR family, pyrin domain containing 3 isoform a							58.0	60.0	60.0					1																	247587725		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587725G>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.980G>C	1.37:g.247587725G>C	ENSP00000337383:p.Arg327Pro					NLRP3_uc001ics.2_Missense_Mutation_p.R327P|NLRP3_uc001icu.2_Missense_Mutation_p.R327P|NLRP3_uc001icw.2_Missense_Mutation_p.R327P|NLRP3_uc001icv.2_Missense_Mutation_p.R327P|NLRP3_uc010pyw.1_Missense_Mutation_p.R325P|NLRP3_uc001ict.1_Missense_Mutation_p.R325P	p.R327P	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1118	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	327			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.980G>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.609045	0.00842	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.04	2.07	0.26955	NACHT nucleoside triphosphatase (1);	0.309232	0.23247	N	0.050290	T	0.37019	0.0988	N	0.00073	-2.26	0.09310	N	1	B;B;B;B;B	0.13145	0.005;0.002;0.007;0.001;0.001	B;B;B;B;B	0.12837	0.008;0.001;0.007;0.002;0.004	T	0.50931	-0.8769	10	0.02654	T	1	.	10.2762	0.43512	0.0:0.3811:0.6189:0.0	.	327;327;327;327;327	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	P	327	ENSP00000375704:R327P;ENSP00000355453:R327P;ENSP00000337383:R327P;ENSP00000294752:R327P;ENSP00000355452:R327P;ENSP00000375703:R327P	ENSP00000337383:R327P	R	+	2	0	NLRP3	245654348	0.078000	0.21339	0.006000	0.13384	0.791000	0.44710	2.675000	0.46875	0.614000	0.30107	0.563000	0.77884	CGG		PASS	0.587	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		19	37	19	37	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978715	247978715	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr1:247978715G>A	ENST00000357627.1	-	1	316	c.317C>T	c.(316-318)gCa>gTa	p.A106V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A106V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CTCTGCAGATGCTGAAGAAAG	0.473																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)GCA>GTA		olfactory receptor, family 14, subfamily A,							104.0	99.0	101.0					1																	247978715		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978715G>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.317C>T	1.37:g.247978715G>A	ENSP00000350248:p.Ala106Val						p.A106V	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	317	-			106			Helical; Name=3; (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.317C>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917761	0.52546	.	.	ENSG00000196772	ENST00000357627	T	0.01359	4.98	3.51	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.832351	0.10028	U	0.725094	T	0.01254	0.0041	L	0.31752	0.955	0.09310	N	1	P	0.35872	0.525	B	0.38500	0.275	T	0.38222	-0.9671	10	0.06757	T	0.87	.	5.621	0.17457	0.1874:0.3092:0.5033:0.0	.	106	Q8NHC5	O14AG_HUMAN	V	106	ENSP00000350248:A106V	ENSP00000350248:A106V	A	-	2	0	OR14A16	246045338	0.000000	0.05858	0.001000	0.08648	0.916000	0.54674	-2.703000	0.00822	0.292000	0.22492	0.590000	0.80494	GCA		PASS	0.473	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		36	76	36	76	---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10101464	10101464	+	Missense_Mutation	SNP	C	C	G	rs150933141		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:10101464C>G	ENST00000324907.9	+	4	704	c.568C>G	c.(568-570)Ctc>Gtc	p.L190V	GRHL1_ENST00000324883.5_Missense_Mutation_p.I26M|GRHL1_ENST00000405379.2_Missense_Mutation_p.L190V	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	190					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L190V(1)|p.I26M(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CGATCGGAATCTCAATACTGA	0.542																																						uc002raa.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(568-570)CTC>GTC		grainyhead-like 1							123.0	120.0	121.0					2																	10101464		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10101464C>G	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.568C>G	2.37:g.10101464C>G	ENSP00000324693:p.Leu190Val					GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.I26M|GRHL1_uc010yjb.1_Missense_Mutation_p.L39V	p.L190V	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	4	739	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		190					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.568C>G	CCDS33144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.370|9.370	1.070319|1.070319	0.20147|0.20147	.|.	.|.	ENSG00000134317|ENSG00000134317	ENST00000324883|ENST00000405379;ENST00000324907	T|T;T	0.17854|0.11712	2.25|2.75;2.75	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.058679	.|0.64402	.|D	.|0.000001	T|T	0.06188|0.06188	0.0160|0.0160	N|N	0.08118|0.08118	0|0	0.27767|0.27767	N|N	0.943623|0.943623	B|B	0.18310|0.09022	0.027|0.002	B|B	0.16289|0.06405	0.015|0.002	T|T	0.30090|0.30090	-0.9990|-0.9990	9|10	0.42905|0.15499	T|T	0.14|0.54	.|.	14.9397|14.9397	0.70983|0.70983	0.0:0.8575:0.1425:0.0|0.0:0.8575:0.1425:0.0	.|.	26|190	Q9NZI5-2|Q9NZI5	.|GRHL1_HUMAN	M|V	26|190	ENSP00000324494:I26M|ENSP00000384209:L190V;ENSP00000324693:L190V	ENSP00000324494:I26M|ENSP00000324693:L190V	I|L	+|+	3|1	3|0	GRHL1|GRHL1	10018915|10018915	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.554000|0.554000	0.35429|0.35429	4.418000|4.418000	0.59828|0.59828	2.594000|2.594000	0.87642|0.87642	0.563000|0.563000	0.77884|0.77884	ATC|CTC		PASS	0.542	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		37	100	37	100	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32692709	32692709	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:32692709G>C	ENST00000421745.2	+	27	5607	c.5473G>C	c.(5473-5475)Gag>Cag	p.E1825Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1825					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.E1825Q(1)|p.E1797Q(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTAGGAGAAGAGGTGGATGG	0.438																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(5473-5475)GAG>CAG		baculoviral IAP repeat-containing 6							146.0	137.0	140.0					2																	32692709		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32692709G>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5473G>C	2.37:g.32692709G>C	ENSP00000393596:p.Glu1825Gln						p.E1825Q	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			27	5607	+	Acute lymphoblastic leukemia(172;0.155)		1825					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.5473G>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940439	0.73557	.	.	ENSG00000115760	ENST00000421745	T	0.80214	-1.35	5.61	5.61	0.85477	.	0.135403	0.51477	D	0.000100	D	0.89553	0.6748	M	0.72353	2.195	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	D	0.89852	0.4010	10	0.72032	D	0.01	.	19.7081	0.96082	0.0:0.0:1.0:0.0	.	1825	Q9NR09	BIRC6_HUMAN	Q	1825	ENSP00000393596:E1825Q	ENSP00000393596:E1825Q	E	+	1	0	BIRC6	32546213	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.677000	0.91161	0.558000	0.71614	GAG		PASS	0.438	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		16	61	16	61	---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39552894	39552894	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:39552894G>T	ENST00000263881.3	-	11	1108	c.784C>A	c.(784-786)Cct>Act	p.P262T	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P262T|RP11-449G16.1_ENST00000609671.1_RNA|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P199T	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P262T(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCAGCAGTAGGTCTTTTTTTC	0.249																																						uc002rro.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(784-786)CCT>ACT		mitogen-activated protein kinase kinase kinase							61.0	67.0	65.0					2																	39552894		2198	4295	6493	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39552894G>T	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.784C>A	2.37:g.39552894G>T	ENSP00000263881:p.Pro262Thr					MAP4K3_uc002rrp.2_Missense_Mutation_p.P262T|MAP4K3_uc010yns.1_5'UTR	p.P262T	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			11	875	-		all_hematologic(82;0.211)	262			Protein kinase.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.784C>A	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618970	0.87460	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.67345	1.47;-0.26;1.47	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85687	0.5754	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86693	0.1924	9	.	.	.	.	20.1739	0.98173	0.0:0.0:1.0:0.0	.	262;262	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	T	262;199;262	ENSP00000263881:P262T;ENSP00000416958:P199T;ENSP00000345434:P262T	.	P	-	1	0	MAP4K3	39406398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.238000	0.95380	2.774000	0.95407	0.585000	0.79938	CCT		PASS	0.249	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		13	44	13	44	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656873	40656873	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:40656873A>G	ENST00000403092.1	-	2	581	c.548T>C	c.(547-549)aTt>aCt	p.I183T	SLC8A1_ENST00000405269.1_Missense_Mutation_p.I183T|SLC8A1_ENST00000406785.2_Missense_Mutation_p.I183T|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I183T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I183T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I183T|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I183T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I183T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I183T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I183T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	183					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.I183T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACAGAGTGCAATAATGATGAA	0.473																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(547-549)ATT>ACT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						92.0	84.0	87.0					2																	40656873		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656873A>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.548T>C	2.37:g.40656873A>G	ENSP00000384763:p.Ile183Thr					SLC8A1_uc002rry.2_Missense_Mutation_p.I183T|SLC8A1_uc002rrz.2_Missense_Mutation_p.I183T|SLC8A1_uc002rsa.2_Missense_Mutation_p.I183T|SLC8A1_uc002rsd.3_Missense_Mutation_p.I183T|SLC8A1_uc002rsb.1_Missense_Mutation_p.I183T|SLC8A1_uc010fan.1_Missense_Mutation_p.I183T|SLC8A1_uc002rsc.1_Missense_Mutation_p.I183T	p.I183T	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	572	-			183			Helical; (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.548T>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844405	0.51164	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.048477	0.85682	D	0.000000	T	0.80555	0.4645	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.57899	0.971;0.981;0.971;0.971;0.977	D;D;D;P;P	0.76071	0.913;0.987;0.913;0.797;0.871	T	0.80848	-0.1199	10	0.44086	T	0.13	.	13.7388	0.62836	1.0:0.0:0.0:0.0	.	183;183;183;183;183	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	T	183	ENSP00000383886:I183T;ENSP00000440727:I183T;ENSP00000384763:I183T;ENSP00000385678:I183T;ENSP00000385188:I183T;ENSP00000385535:I183T;ENSP00000332931:I183T;ENSP00000384908:I183T;ENSP00000385811:I183T;ENSP00000443515:I183T	ENSP00000332931:I183T	I	-	2	0	SLC8A1	40510377	1.000000	0.71417	0.429000	0.26710	0.941000	0.58515	9.151000	0.94674	2.140000	0.66376	0.460000	0.39030	ATT		PASS	0.473	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		9	21	9	21	---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64109731	64109731	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:64109731G>A	ENST00000337130.5	+	4	863	c.387G>A	c.(385-387)ctG>ctA	p.L129L	UGP2_ENST00000394417.2_Silent_p.L118L|UGP2_ENST00000487469.1_3'UTR|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000445915.2_Silent_p.L138L|UGP2_ENST00000467648.2_Silent_p.L118L	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	129					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.L129L(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CTAAAAGTCTGATTGGTGTGA	0.403																																						uc002scm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(385-387)CTG>CTA		UDP-glucose pyrophosphorylase 2 isoform a							138.0	140.0	139.0					2																	64109731		2203	4300	6503	SO:0001819	synonymous_variant	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64109731G>A		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.387G>A	2.37:g.64109731G>A						UGP2_uc002scl.2_Silent_p.L118L|UGP2_uc010ypx.1_Silent_p.L138L	p.L129L	NM_006759	NP_006750	Q16851	UGPA_HUMAN			4	693	+			129					Q07131|Q0P6K2|Q86Y81|Q9BU15	Silent	SNP	ENST00000337130.5	37	c.387G>A	CCDS1875.1																																																																																				PASS	0.403	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		28	59	28	59	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717648	73717648	+	Silent	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:73717648A>G	ENST00000264448.6	+	10	8670	c.8559A>G	c.(8557-8559)ctA>ctG	p.L2853L	ALMS1_ENST00000409009.1_Silent_p.L2811L|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2853					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.L2853L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTTCCACCCTAGGAGTAAACA	0.408																																						uc002sje.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(8563-8565)CTA>CTG		Alstrom syndrome 1							75.0	71.0	72.0					2																	73717648		1884	4097	5981	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717648A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8559A>G	2.37:g.73717648A>G						ALMS1_uc002sjf.1_Silent_p.L2811L|ALMS1_uc002sjg.2_Silent_p.L2241L|ALMS1_uc002sjh.1_Silent_p.L2241L	p.L2855L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	8676	+			2853					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.8565A>G	CCDS42697.1																																																																																				PASS	0.408	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		30	33	30	33	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74041054	74041054	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:74041054C>A	ENST00000409561.1	+	2	669	c.548C>A	c.(547-549)gCc>gAc	p.A183D		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	183								p.A183D(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCACTATCTGCCAGCCTTGTT	0.433																																						uc002sjr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(547-549)GCC>GAC		hypothetical protein LOC388960							97.0	87.0	90.0					2																	74041054		1928	4143	6071	SO:0001583	missense	388960							g.chr2:74041054C>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.548C>A	2.37:g.74041054C>A	ENSP00000387124:p.Ala183Asp						p.A183D	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			2	669	+			183						Missense_Mutation	SNP	ENST00000409561.1	37	c.548C>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281008	0.23392	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	4.81	3.0	0.34707	.	0.275253	0.18571	U	0.137358	T	0.54078	0.1836	M	0.72894	2.215	0.25623	N	0.986374	D	0.67145	0.996	P	0.59948	0.866	T	0.45454	-0.9260	9	0.72032	D	0.01	-6.2999	6.3345	0.21289	0.1812:0.7233:0.0:0.0955	.	183	A6NCI8	CB078_HUMAN	D	183	.	ENSP00000340692:A183D	A	+	2	0	C2orf78	73894562	0.924000	0.31332	0.132000	0.22025	0.002000	0.02628	1.843000	0.39259	0.561000	0.29186	-1.106000	0.02097	GCC		PASS	0.433	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		15	38	15	38	---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96952118	96952118	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:96952118G>C	ENST00000323853.5	-	29	4011	c.3934C>G	c.(3934-3936)Ctg>Gtg	p.L1312V	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1312					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.L1312V(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTGTTTCTCAGAGCAGACACG	0.532																																						uc002svu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(3934-3936)CTG>GTG		activating signal cointegrator 1 complex subunit							109.0	125.0	119.0					2																	96952118		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96952118G>C	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3934C>G	2.37:g.96952118G>C	ENSP00000317123:p.Leu1312Val					SNRNP200_uc002svt.2_5'Flank|SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svv.1_5'Flank|SNRNP200_uc002svw.1_Missense_Mutation_p.L384V	p.L1312V	NM_014014	NP_054733	O75643	U520_HUMAN			29	4020	-			1312					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.3934C>G	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615522	0.46631	.	.	ENSG00000144028	ENST00000323853	T	0.47528	0.84	4.73	1.97	0.26223	.	0.000000	0.64402	D	0.000001	T	0.53899	0.1825	M	0.92833	3.35	0.80722	D	1	B	0.24823	0.112	B	0.24848	0.056	T	0.53429	-0.8440	10	0.56958	D	0.05	-11.5971	7.9966	0.30271	0.3456:0.0:0.6544:0.0	.	1312	O75643	U520_HUMAN	V	1312	ENSP00000317123:L1312V	ENSP00000317123:L1312V	L	-	1	2	SNRNP200	96315845	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	4.729000	0.62008	0.238000	0.21222	0.557000	0.71058	CTG		PASS	0.532	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		32	90	32	90	---	---	---	---
NPHP1	4867	broad.mit.edu	37	2	110886762	110886762	+	Splice_Site	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:110886762C>T	ENST00000393272.3	-	18	1979		c.e18+1		NPHP1_ENST00000355301.4_Splice_Site|NPHP1_ENST00000417665.1_Splice_Site|NPHP1_ENST00000316534.4_Splice_Site|AC013268.1_ENST00000390802.1_RNA|NPHP1_ENST00000445609.2_Splice_Site	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)						actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.?(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ATGCTACCCACCCTGAGAGCA	0.443																																						uc002tfn.3																			1	Unknown(1)		lung(1)	ovary(2)	2	GRCh37	CS080715|CS971832	NPHP1	S		c.e18+1		nephrocystin 1 isoform 2							59.0	52.0	54.0					2																	110886762		2203	4300	6503	SO:0001630	splice_region_variant	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110886762C>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1881+1G>A	2.37:g.110886762C>T						NPHP1_uc002tfm.3_Splice_Site_p.R572_splice|NPHP1_uc002tfl.3_Splice_Site_p.R628_splice|NPHP1_uc002tfo.3_Splice_Site_p.R509_splice|NPHP1_uc010ywx.1_Splice_Site_p.R571_splice|NPHP1_uc010fjv.1_Splice_Site_p.R571_splice	p.R627_splice	NM_207181	NP_997064	O15259	NPHP1_HUMAN			18	1975	-								O14837	Splice_Site	SNP	ENST00000393272.3	37	c.1881_splice	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713173	0.68730	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665;ENST00000422492	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0439	0.89326	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPHP1	110244051	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.676000	0.68131	2.680000	0.91292	0.655000	0.94253	.		PASS	0.443	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	Intron	9	9	9	9	---	---	---	---
MERTK	10461	broad.mit.edu	37	2	112786239	112786239	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:112786239G>C	ENST00000295408.4	+	19	3055	c.2798G>C	c.(2797-2799)gGg>gCg	p.G933A	MERTK_ENST00000421804.2_Missense_Mutation_p.G933A|MERTK_ENST00000409780.1_Missense_Mutation_p.G757A			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	933					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G933A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATCCTGAATGGGGGCAGTGAG	0.527																																						uc002thk.1																			1	Substitution - Missense(1)		lung(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(2797-2799)GGG>GCG		MER receptor tyrosine kinase precursor							90.0	85.0	87.0					2																	112786239		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786239G>C	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2798G>C	2.37:g.112786239G>C	ENSP00000295408:p.Gly933Ala					MERTK_uc002thl.1_Missense_Mutation_p.G757A	p.G933A	NM_006343	NP_006334	Q12866	MERTK_HUMAN			19	2920	+			933			Cytoplasmic (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2798G>C	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	9.886	1.202902	0.22121	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780;ENST00000449344	T;T;T;D	0.84944	-0.89;-0.89;-0.85;-1.92	5.72	4.83	0.62350	.	0.000000	0.33895	U	0.004456	T	0.81269	0.4787	M	0.67953	2.075	0.36704	D	0.880297	P	0.40083	0.702	B	0.34418	0.182	T	0.81547	-0.0883	10	0.10636	T	0.68	-20.5942	16.1711	0.81817	0.0:0.1338:0.8662:0.0	.	933	Q12866	MERTK_HUMAN	A	933;933;757;257	ENSP00000295408:G933A;ENSP00000389152:G933A;ENSP00000387277:G757A;ENSP00000412660:G257A	ENSP00000295408:G933A	G	+	2	0	MERTK	112502710	0.979000	0.34478	0.338000	0.25549	0.012000	0.07955	1.390000	0.34464	1.378000	0.46305	0.655000	0.94253	GGG		PASS	0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			21	45	21	45	---	---	---	---
DDX18	8886	broad.mit.edu	37	2	118582248	118582248	+	Missense_Mutation	SNP	T	T	A	rs375352641		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:118582248T>A	ENST00000263239.2	+	8	1298	c.1170T>A	c.(1168-1170)gaT>gaA	p.D390E		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	390					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.D390E(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCGTTGATGATGATAAAGCGA	0.393																																						uc002tlh.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(1168-1170)GAT>GAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							174.0	172.0	173.0					2																	118582248		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118582248T>A	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1170T>A	2.37:g.118582248T>A	ENSP00000263239:p.Asp390Glu						p.D390E	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			8	1269	+			390					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1170T>A	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	T	5.379	0.255241	0.10185	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.04317	4.5;3.65	4.71	-0.536	0.11876	DEAD-like helicase (1);	0.093945	0.64402	D	0.000001	T	0.02494	0.0076	N	0.11845	0.185	0.54753	D	0.999982	B	0.17038	0.02	B	0.20184	0.028	T	0.51498	-0.8698	10	0.12766	T	0.61	.	9.7171	0.40281	0.0:0.4133:0.0:0.5867	.	390	Q9NVP1	DDX18_HUMAN	E	390;129;73	ENSP00000263239:D390E;ENSP00000415604:D73E	ENSP00000263239:D390E	D	+	3	2	DDX18	118298718	0.968000	0.33430	0.991000	0.47740	0.965000	0.64279	0.074000	0.14662	-0.150000	0.11195	0.460000	0.39030	GAT		PASS	0.393	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		30	89	30	89	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125261958	125261958	+	Silent	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:125261958C>A	ENST00000431078.1	+	8	1513	c.1149C>A	c.(1147-1149)acC>acA	p.T383T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	383	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T383T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCCCGGCACCCCCCAAATTG	0.532																																						uc002tno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(1147-1149)ACC>ACA		contactin associated protein-like 5 precursor							75.0	70.0	71.0					2																	125261958		1865	4118	5983	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125261958C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1149C>A	2.37:g.125261958C>A						CNTNAP5_uc010flu.2_Silent_p.T384T	p.T383T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1513	+			383			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.1149C>A	CCDS46401.1																																																																																				PASS	0.532	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			18	43	18	43	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159488331	159488331	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:159488331C>A	ENST00000389759.3	+	8	1332	c.1220C>A	c.(1219-1221)cCc>cAc	p.P407H	PKP4_ENST00000389757.3_Missense_Mutation_p.P407H	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	407					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.P407H(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCCGTGTCTCCCGACTTGCAC	0.502										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(1219-1221)CCC>CAC		plakophilin 4 isoform a							173.0	154.0	160.0					2																	159488331		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159488331C>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1220C>A	2.37:g.159488331C>A	ENSP00000374409:p.Pro407His	HNSCC(62;0.18)				PKP4_uc002tzt.1_Missense_Mutation_p.P259H|PKP4_uc002tzu.2_Missense_Mutation_p.P407H|PKP4_uc002tzw.2_Missense_Mutation_p.P407H|PKP4_uc002tzx.2_Missense_Mutation_p.P65H|PKP4_uc002tzy.1_Missense_Mutation_p.P65H|PKP4_uc002tzz.1_Missense_Mutation_p.P405H|PKP4_uc002uaa.2_Missense_Mutation_p.P259H	p.P407H	NM_003628	NP_003619	Q99569	PKP4_HUMAN			8	1480	+			407					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.1220C>A	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329151	0.81690	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.80909	-1.4;-1.43	5.97	5.97	0.96955	.	0.051024	0.85682	D	0.000000	D	0.89746	0.6804	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.74674	0.973;0.94;0.976;0.94;0.984	D	0.89623	0.3850	10	0.87932	D	0	-12.3161	20.4388	0.99107	0.0:1.0:0.0:0.0	.	259;363;407;407;258	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	H	258;407;407	ENSP00000374407:P407H;ENSP00000374409:P407H	ENSP00000374407:P407H	P	+	2	0	PKP4	159196577	1.000000	0.71417	0.970000	0.41538	0.423000	0.31445	7.270000	0.78493	2.836000	0.97738	0.655000	0.94253	CCC		PASS	0.502	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			6	100	6	100	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160304825	160304825	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:160304825C>A	ENST00000392783.2	-	5	925	c.430G>T	c.(430-432)Gcc>Tcc	p.A144S	BAZ2B_ENST00000343439.5_Missense_Mutation_p.A142S|BAZ2B_ENST00000355831.2_Missense_Mutation_p.A144S|BAZ2B_ENST00000392782.1_Missense_Mutation_p.A142S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A144S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGATTCTGGGCTGGGGGAGCA	0.438																																						uc002uao.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(430-432)GCC>TCC		bromodomain adjacent to zinc finger domain, 2B							130.0	131.0	131.0					2																	160304825		1925	4134	6059	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160304825C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.430G>T	2.37:g.160304825C>A	ENSP00000376534:p.Ala144Ser					BAZ2B_uc002uap.2_Missense_Mutation_p.A142S|BAZ2B_uc002uas.1_Missense_Mutation_p.A81S|BAZ2B_uc002uau.1_Missense_Mutation_p.A142S|BAZ2B_uc002uaq.1_Missense_Mutation_p.A72S|BAZ2B_uc002uat.3_Missense_Mutation_p.A81S|BAZ2B_uc010fop.1_Missense_Mutation_p.A142S	p.A144S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			5	782	-			144					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.430G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369190	0.61624	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.68	4.78	0.61160	.	0.000000	0.31936	U	0.006834	T	0.16085	0.0387	L	0.41236	1.265	0.28777	N	0.900047	B;B;P;B;B;B	0.52316	0.167;0.161;0.952;0.073;0.008;0.005	B;B;P;B;B;B	0.52909	0.079;0.049;0.713;0.059;0.022;0.01	T	0.02457	-1.1156	10	0.66056	D	0.02	-0.5881	9.9162	0.41436	0.0:0.7879:0.1402:0.072	.	142;81;144;142;142;144	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	S	142;144;144;142;81	ENSP00000376533:A142S;ENSP00000376534:A144S;ENSP00000348087:A144S;ENSP00000339670:A142S	ENSP00000339670:A142S	A	-	1	0	BAZ2B	160013071	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.586000	0.23894	1.369000	0.46134	0.555000	0.69702	GCC		PASS	0.438	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			28	84	28	84	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166231463	166231463	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:166231463C>T	ENST00000375437.2	+	22	4531	c.4241C>T	c.(4240-4242)tCt>tTt	p.S1414F	SCN2A_ENST00000375427.2_Missense_Mutation_p.S1414F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S1414F|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1414F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1414					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S1414F(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGATATCTGTCTCTACTTCAA	0.338																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(4240-4242)TCT>TTT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						43.0	43.0	43.0					2																	166231463		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231463C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4241C>T	2.37:g.166231463C>T	ENSP00000364586:p.Ser1414Phe					SCN2A_uc002udd.2_Missense_Mutation_p.S1414F|SCN2A_uc002ude.2_Missense_Mutation_p.S1414F	p.S1414F	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			22	4531	+			1414			III.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4241C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811705	0.50527	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87	4.67	4.67	0.58626	Ion transport (1);	0.075113	0.56097	D	0.000040	D	0.98311	0.9440	M	0.94142	3.5	0.52501	D	0.999952	D;P	0.53745	0.962;0.723	D;P	0.66084	0.941;0.797	D	0.99777	1.1026	10	0.87932	D	0	.	17.9467	0.89040	0.0:1.0:0.0:0.0	.	1414;1414	Q99250-2;Q99250	.;SCN2A_HUMAN	F	1414	ENSP00000364586:S1414F;ENSP00000349973:S1414F;ENSP00000283256:S1414F;ENSP00000364576:S1414F	ENSP00000283256:S1414F	S	+	2	0	SCN2A	165939709	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	7.776000	0.85560	2.291000	0.77112	0.655000	0.94253	TCT		PASS	0.338	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		8	24	8	24	---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170493060	170493060	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:170493060C>G	ENST00000260970.3	+	14	1512	c.1292C>G	c.(1291-1293)tCt>tGt	p.S431C	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Missense_Mutation_p.S431C|PPIG_ENST00000409714.3_Missense_Mutation_p.S416C	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	431					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.S431C(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACCATAAATCTAACAGCAAA	0.333																																						uc002uez.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1291-1293)TCT>TGT		peptidylprolyl isomerase G	L-Proline(DB00172)						50.0	51.0	50.0					2																	170493060		2191	4286	6477	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493060C>G	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1292C>G	2.37:g.170493060C>G	ENSP00000260970:p.Ser431Cys					PPIG_uc010fpx.2_Missense_Mutation_p.S416C|PPIG_uc010fpy.2_Missense_Mutation_p.S424C|PPIG_uc002ufb.2_Missense_Mutation_p.S431C|PPIG_uc002ufd.2_Missense_Mutation_p.S428C	p.S431C	NM_004792	NP_004783	Q13427	PPIG_HUMAN			14	1512	+			431					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.1292C>G	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493529	0.64186	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000448752	T;T;T;T	0.25085	2.24;1.82;2.24;2.24	5.92	5.92	0.95590	.	0.119667	0.64402	D	0.000019	T	0.41351	0.1155	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.995;0.987;0.995	T	0.07712	-1.0758	10	0.37606	T	0.19	-7.0717	20.3206	0.98668	0.0:1.0:0.0:0.0	.	424;416;416;431	C9JM79;E9PG73;Q2NKQ6;Q13427	.;.;.;PPIG_HUMAN	C	431;431;424;416;431	ENSP00000260970:S431C;ENSP00000408683:S424C;ENSP00000386245:S416C;ENSP00000407083:S431C	ENSP00000260970:S431C	S	+	2	0	PPIG	170201306	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.505000	0.66981	2.809000	0.96659	0.655000	0.94253	TCT		PASS	0.333	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			8	35	8	35	---	---	---	---
HOXD11	3237	broad.mit.edu	37	2	176973689	176973689	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:176973689G>A	ENST00000249504.5	+	2	906	c.836G>A	c.(835-837)cGc>cAc	p.R279H	HOXD10_ENST00000490088.2_3'UTR|HOXD11_ENST00000498438.1_3'UTR|AC009336.1_ENST00000401374.2_RNA	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	279					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R279H(1)						OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TACCAGATCCGCGAACTGGAA	0.522			T	NUP98	AML																																	uc002uki.2				Dom	yes		2	2q31-q32	3237	T	homeo box D11			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)		0						c.(835-837)CGC>CAC		homeobox D11							92.0	100.0	98.0					2																	176973689		2203	4300	6503	SO:0001583	missense	3237					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176973689G>A		CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"""Homeoboxes / ANTP class : HOXL subclass"""	5134	protein-coding gene	gene with protein product		142986	"""homeo box D11"""	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.836G>A	2.37:g.176973689G>A	ENSP00000249504:p.Arg279His					HOXD11_uc010fqx.2_RNA	p.R279H	NM_021192	NP_067015	P31277	HXD11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	2	836	+			279			Homeobox.		A6NIS4|Q9NS02	Missense_Mutation	SNP	ENST00000249504.5	37	c.836G>A	CCDS2265.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669421	0.88348	.	.	ENSG00000128713	ENST00000249504;ENST00000392538	D	0.96334	-3.98	5.42	5.42	0.78866	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.35013	U	0.003514	D	0.96787	0.8951	L	0.28649	0.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97566	1.0101	10	0.59425	D	0.04	.	19.2199	0.93791	0.0:0.0:1.0:0.0	.	279	P31277	HXD11_HUMAN	H	279;100	ENSP00000249504:R279H	ENSP00000249504:R279H	R	+	2	0	HOXD11	176681935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.847000	0.99503	2.552000	0.86080	0.603000	0.83216	CGC		PASS	0.522	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359250.2			34	70	34	70	---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179236961	179236961	+	Splice_Site	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:179236961G>T	ENST00000190611.4	+	14	1771		c.e14+1		OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000315022.2_Splice_Site|OSBPL6_ENST00000359685.3_Intron|OSBPL6_ENST00000357080.4_Intron|OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000409631.1_Intron	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6						lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCCTGATGAGGTAAGACTCAT	0.323																																						uc002ulx.2																			2	Unknown(2)		lung(2)	pancreas(1)	1						c.e14+1		oxysterol-binding protein-like protein 6 isoform							116.0	117.0	117.0					2																	179236961		2203	4300	6503	SO:0001630	splice_region_variant	114880				lipid transport		lipid binding	g.chr2:179236961G>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1395+1G>T	2.37:g.179236961G>T						OSBPL6_uc002ulw.2_Intron|OSBPL6_uc002uly.2_Splice_Site_p.E490_splice|OSBPL6_uc010zfe.1_Splice_Site_p.E434_splice|OSBPL6_uc002ulz.2_Intron|OSBPL6_uc002uma.2_Splice_Site_p.E469_splice	p.E465_splice	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		14	1773	+								B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Splice_Site	SNP	ENST00000190611.4	37	c.1395_splice	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869205	0.91587	.	.	ENSG00000079156	ENST00000392505;ENST00000409045;ENST00000190611;ENST00000315022	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8529	0.96746	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OSBPL6	178945207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.152000	0.94680	2.755000	0.94549	0.655000	0.94253	.		PASS	0.323	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	Intron	19	13	19	13	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179437048	179437048	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:179437048G>T	ENST00000591111.1	-	276	69112	c.68888C>A	c.(68887-68889)cCt>cAt	p.P22963H	TTN_ENST00000359218.5_Missense_Mutation_p.P15664H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15731H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22036H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15539H|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P24604H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22963	Fibronectin type-III 66. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P15731H(1)|p.P22034H(1)|p.P22036H(1)|p.P15539H(1)|p.P15664H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTTCAGCAGGCAGCCCAAT	0.453																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(66106-66108)CCT>CAT		titin isoform N2-A							82.0	77.0	78.0					2																	179437048		1928	4136	6064	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437048G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68888C>A	2.37:g.179437048G>T	ENSP00000465570:p.Pro22963His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P15731H|TTN_uc010zfi.1_Missense_Mutation_p.P15664H|TTN_uc010zfj.1_Missense_Mutation_p.P15539H	p.P22036H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	66331	-			22963					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.66107C>A		.	.	.	.	.	.	.	.	.	.	G	14.02	2.412221	0.42817	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.07	6.07	0.98685	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82688	0.5091	H	0.96547	3.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;P;D	0.73708	0.972;0.897;0.897;0.981	D	0.86912	0.2061	9	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	15539;15664;15731;22963	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	22036;15539;15731;15664;15537	ENSP00000343764:P22036H;ENSP00000434586:P15539H;ENSP00000340554:P15731H;ENSP00000352154:P15664H	ENSP00000340554:P15731H	P	-	2	0	TTN	179145294	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	CCT		PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	31	12	31	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179458090	179458090	+	Silent	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:179458090C>A	ENST00000591111.1	-	249	54146	c.53922G>T	c.(53920-53922)ctG>ctT	p.L17974L	TTN_ENST00000359218.5_Silent_p.L10675L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.L10742L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.L17047L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.L10550L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Silent_p.L19615L|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17974	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L10550L(1)|p.L10742L(1)|p.L17045L(1)|p.L10675L(1)|p.L17047L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCTTTTCCAGGATGTAGT	0.403																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(51139-51141)CTG>CTT		titin isoform N2-A							121.0	122.0	122.0					2																	179458090		1866	4097	5963	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458090C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53922G>T	2.37:g.179458090C>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L10742L|TTN_uc010zfi.1_Silent_p.L10675L|TTN_uc010zfj.1_Silent_p.L10550L	p.L17047L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		248	51365	-			17974					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.51141G>T																																																																																					PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	84	5	84	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179650444	179650444	+	Missense_Mutation	SNP	G	G	A	rs149061352	byFrequency	TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:179650444G>A	ENST00000591111.1	-	15	2620	c.2396C>T	c.(2395-2397)aCg>aTg	p.T799M	TTN_ENST00000359218.5_Missense_Mutation_p.T753M|TTN_ENST00000360870.5_Missense_Mutation_p.T799M|TTN_ENST00000342175.6_Missense_Mutation_p.T753M|TTN_ENST00000342992.6_Missense_Mutation_p.T799M|TTN_ENST00000460472.2_Missense_Mutation_p.T753M|TTN_ENST00000589042.1_Missense_Mutation_p.T799M			Q8WZ42	TITIN_HUMAN	titin	33633			T -> M (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T753M(4)|p.T799M(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATCTTTCCGTTGTTAGATC	0.418													G|||	4	0.000798722	0.0015	0.0	5008	,	,		20968	0.002		0.0	False		,,,				2504	0.0					uc010zfg.1																			7	Substitution - Missense(7)	p.T753M(1)	lung(6)|large_intestine(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2395-2397)ACG>ATG		titin isoform N2-A		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	237.0	225.0	229.0		2258,2258,2396,2396,2258	1.5	0.9	2	dbSNP_134	229	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	81,81,81,81,81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign	753/27119,753/27052,799/5605,799/33424,753/26927	179650444	2,13004	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650444G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2396C>T	2.37:g.179650444G>A	ENSP00000465570:p.Thr799Met					TTN_uc010zfh.1_Missense_Mutation_p.T753M|TTN_uc010zfi.1_Missense_Mutation_p.T753M|TTN_uc010zfj.1_Missense_Mutation_p.T753M|TTN_uc002unb.2_Missense_Mutation_p.T799M	p.T799M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	2620	-			799					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2396C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.851	1.193565	0.22037	2.27E-4	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65549	-0.16;0.06;0.06;0.05;0.1	5.51	1.55	0.23275	Ribonuclease H-like (1);	.	.	.	.	T	0.49338	0.1551	L	0.27053	0.805	0.09310	N	1	B;B;B;B;P	0.52170	0.349;0.349;0.349;0.173;0.951	B;B;B;B;P	0.46076	0.038;0.038;0.072;0.05;0.503	T	0.39461	-0.9613	9	0.87932	D	0	.	5.5749	0.17218	0.0889:0.4184:0.376:0.1167	.	753;753;753;799;799	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	799;753;753;753;753;799	ENSP00000343764:T799M;ENSP00000434586:T753M;ENSP00000340554:T753M;ENSP00000352154:T753M;ENSP00000354117:T799M	ENSP00000340554:T753M	T	-	2	0	TTN	179358689	0.732000	0.28121	0.941000	0.38009	0.988000	0.76386	1.513000	0.35823	0.057000	0.16193	0.655000	0.94253	ACG		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	58	22	58	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189927941	189927941	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:189927941C>T	ENST00000374866.3	-	27	2100	c.1826G>A	c.(1825-1827)gGg>gAg	p.G609E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	609					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G609E(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCGGGCTGCCCTCTGATTCC	0.527																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1825-1827)GGG>GAG		alpha 2 type V collagen preproprotein							79.0	89.0	86.0					2																	189927941		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189927941C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1826G>A	2.37:g.189927941C>T	ENSP00000364000:p.Gly609Glu					COL5A2_uc010frx.2_Missense_Mutation_p.G185E	p.G609E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		27	2101	-			609					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.1826G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711903	0.89112	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99619	-6.28	4.56	4.56	0.56223	.	0.000000	0.46758	D	0.000275	D	0.99819	0.9920	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96493	0.9365	9	.	.	.	.	17.7045	0.88304	0.0:1.0:0.0:0.0	.	249;609	Q5PR22;P05997	.;CO5A2_HUMAN	E	609;249	ENSP00000364000:G609E	.	G	-	2	0	COL5A2	189636186	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.445000	0.80570	2.244000	0.73946	0.467000	0.42956	GGG		PASS	0.527	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		17	48	17	48	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201501692	201501692	+	Missense_Mutation	SNP	G	G	A	rs113582006	byFrequency	TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:201501692G>A	ENST00000374700.2	+	22	2646	c.2405G>A	c.(2404-2406)cGt>cAt	p.R802H	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	802			R -> C (decreases homodimerization but nearly no effect on kinetic parameters; dbSNP:rs41309768). {ECO:0000269|PubMed:22279051}.		inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.R802H(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CATGTAAGGCGTGTTGGTGGA	0.443													G|||	3	0.000599042	0.0	0.0029	5008	,	,		20957	0.0		0.001	False		,,,				2504	0.0					uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(2404-2406)CGT>CAT		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						175.0	149.0	158.0					2																	201501692		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201501692G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2405G>A	2.37:g.201501692G>A	ENSP00000363832:p.Arg802His					AOX1_uc010zhf.1_Missense_Mutation_p.R358H|AOX1_uc010fsu.2_Missense_Mutation_p.R168H	p.R802H	NM_001159	NP_001150	Q06278	ADO_HUMAN			22	2506	+			802					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2405G>A	CCDS33360.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	17.93	3.508951	0.64410	.	.	ENSG00000138356	ENST00000374700	T	0.44482	0.92	5.43	4.55	0.56014	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.050835	0.85682	D	0.000000	T	0.75384	0.3842	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84635	0.0692	10	0.72032	D	0.01	-25.0044	15.7752	0.78209	0.0:0.0:0.8627:0.1372	.	802	Q06278	ADO_HUMAN	H	802	ENSP00000363832:R802H	ENSP00000363832:R802H	R	+	2	0	AOX1	201209937	1.000000	0.71417	0.792000	0.32020	0.124000	0.20399	7.055000	0.76656	1.509000	0.48786	0.585000	0.79938	CGT		PASS	0.443	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		20	42	20	42	---	---	---	---
CARF	79800	broad.mit.edu	37	2	203820411	203820411	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:203820411C>T	ENST00000402905.3	+	7	893	c.572C>T	c.(571-573)cCc>cTc	p.P191L	CARF_ENST00000414439.1_Missense_Mutation_p.P89L|CARF_ENST00000545262.1_Missense_Mutation_p.P115L|CARF_ENST00000456821.2_Missense_Mutation_p.P179L|CARF_ENST00000545253.1_Missense_Mutation_p.P103L|WDR12_ENST00000477723.1_Intron|CARF_ENST00000320443.8_Missense_Mutation_p.P191L|CARF_ENST00000438828.2_Missense_Mutation_p.P191L|CARF_ENST00000428585.1_Missense_Mutation_p.P115L|CARF_ENST00000434998.1_Missense_Mutation_p.P89L|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000444724.1_Missense_Mutation_p.P191L	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	191					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P191L(1)									CTGGAAGAACCCCTTCTGGGG	0.398																																						uc002uzo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(571-573)CCC>CTC		amyotrophic lateral sclerosis 2 (juvenile)							60.0	58.0	59.0					2																	203820411		1797	4061	5858	SO:0001583	missense	79800							g.chr2:203820411C>T	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.572C>T	2.37:g.203820411C>T	ENSP00000384006:p.Pro191Leu					ALS2CR8_uc002uzn.2_Missense_Mutation_p.P89L|ALS2CR8_uc002uzm.2_Missense_Mutation_p.P191L|ALS2CR8_uc010zhy.1_Missense_Mutation_p.P191L|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.P115L|ALS2CR8_uc010zib.1_Missense_Mutation_p.P115L|ALS2CR8_uc010zic.1_Missense_Mutation_p.P103L|ALS2CR8_uc002uzp.2_Missense_Mutation_p.P191L	p.P191L	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			7	852	+			191					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.572C>T	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712889	0.30413	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000456821;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	4.96	4.96	0.65561	.	0.238713	0.37136	N	0.002228	T	0.75354	0.3838	M	0.66939	2.045	0.48185	D	0.999605	B;B;D;B;P	0.89917	0.027;0.027;1.0;0.105;0.873	B;B;D;B;B	0.87578	0.032;0.03;0.998;0.05;0.412	T	0.77539	-0.2550	9	0.87932	D	0	-11.5392	11.1099	0.48226	0.0:0.9144:0.0:0.0856	.	103;115;191;191;191	B4DIA7;G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;.;AL2S8_HUMAN;.	L	191;191;89;115;103;115;179;89;191;191	.	ENSP00000316224:P191L	P	+	2	0	ALS2CR8	203528656	0.623000	0.27094	0.978000	0.43139	0.074000	0.17049	1.775000	0.38584	2.454000	0.82982	0.460000	0.39030	CCC		PASS	0.398	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		7	21	7	21	---	---	---	---
CNPPD1	27013	broad.mit.edu	37	2	220037441	220037441	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:220037441C>A	ENST00000409789.1	-	9	1527	c.1100G>T	c.(1099-1101)tGg>tTg	p.W367L	SLC23A3_ENST00000396775.3_5'Flank|CNPPD1_ENST00000360507.5_Missense_Mutation_p.W367L|SLC23A3_ENST00000455516.2_5'Flank|SLC23A3_ENST00000409878.3_5'Flank|SLC23A3_ENST00000295738.7_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	367	Pro-rich.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)		p.W367L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						GGTATGGTACCAGGGGCTGGA	0.602																																						uc002vju.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1099-1101)TGG>TTG		hypothetical protein LOC27013							51.0	53.0	52.0					2																	220037441		2203	4300	6503	SO:0001583	missense	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220037441C>A	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.1100G>T	2.37:g.220037441C>A	ENSP00000386277:p.Trp367Leu					NHEJ1_uc002vjq.3_5'Flank|SLC23A3_uc010zkr.1_5'Flank|SLC23A3_uc010zks.1_5'Flank|SLC23A3_uc010fwb.2_5'Flank|C2orf24_uc002vjv.2_Missense_Mutation_p.W367L	p.W367L	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1252	-		Renal(207;0.0915)	367			Pro-rich.		B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	c.1100G>T	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	C	0.442	-0.898129	0.02472	.	.	ENSG00000115649	ENST00000360507;ENST00000409789	T;T	0.12879	2.64;2.64	5.04	3.19	0.36642	.	1.058890	0.07220	N	0.860661	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41840	-0.9486	10	0.10377	T	0.69	1.734	6.8601	0.24062	0.1803:0.7294:0.0:0.0903	.	367	Q9BV87	CNPD1_HUMAN	L	367	ENSP00000353698:W367L;ENSP00000386277:W367L	ENSP00000353698:W367L	W	-	2	0	CNPPD1	219745685	0.618000	0.27051	0.088000	0.20740	0.452000	0.32318	0.734000	0.26101	0.664000	0.31047	0.655000	0.94253	TGG		PASS	0.602	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		7	29	7	29	---	---	---	---
ABCB6	10058	broad.mit.edu	37	2	220077986	220077986	+	Silent	SNP	G	G	A	rs368167926		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:220077986G>A	ENST00000265316.3	-	12	2098	c.1782C>T	c.(1780-1782)aaC>aaT	p.N594N	ABCB6_ENST00000439002.2_Silent_p.N548N	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	594	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.N594N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAGTGCACGTTCTCAAACT	0.542																																						uc002vkc.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1780-1782)AAC>AAT		ATP-binding cassette, sub-family B, member 6		G		1,4405	2.1+/-5.4	0,1,2202	120.0	124.0	123.0		1782	-6.6	0.5	2		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCB6	NM_005689.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		594/843	220077986	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220077986G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1782C>T	2.37:g.220077986G>A						ABCB6_uc010fwe.1_Silent_p.N548N	p.N594N	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	2059	-		Renal(207;0.0474)	594			ABC transporter.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	c.1782C>T	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	2.583	-0.296898	0.05532	2.27E-4	1.16E-4	ENSG00000115657	ENST00000295750	.	.	.	4.7	-6.59	0.01830	.	.	.	.	.	T	0.65995	0.2745	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68973	-0.5268	4	.	.	.	-14.3635	17.9785	0.89133	0.3033:0.0:0.6967:0.0	.	.	.	.	M	442	.	.	T	-	2	0	ABCB6	219786230	0.007000	0.16637	0.522000	0.27862	0.359000	0.29487	-0.939000	0.03933	-1.311000	0.02309	-0.320000	0.08662	ACG		PASS	0.542	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		13	39	13	39	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220161200	220161200	+	Silent	SNP	C	C	T	rs376416230		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:220161200C>T	ENST00000295718.2	-	17	2589	c.2349G>A	c.(2347-2349)acG>acA	p.T783T	PTPRN_ENST00000423636.2_Silent_p.T693T|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000409251.3_Silent_p.T754T|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	783	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T783T(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCGGGCCCTGCGTGGCTATGT	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20863	0.0		0.0	False		,,,				2504	0.0					uc002vkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2347-2349)ACG>ACA		protein tyrosine phosphatase, receptor type, N		C	,,	1,4405	2.1+/-5.4	0,1,2202	80.0	75.0	77.0		2262,2079,2349	-9.1	0.3	2		77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRN	NM_001199763.1,NM_001199764.1,NM_002846.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	754/951,693/890,783/980	220161200	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220161200C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2349G>A	2.37:g.220161200C>T						PTPRN_uc010zlc.1_Silent_p.T693T|PTPRN_uc002vla.2_Silent_p.T754T|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	p.T783T	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	17	2438	-		Renal(207;0.0474)	783			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.2349G>A	CCDS2440.1																																																																																				PASS	0.602	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			16	42	16	42	---	---	---	---
NEU2	4759	broad.mit.edu	37	2	233899524	233899524	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:233899524C>A	ENST00000233840.3	+	2	900	c.900C>A	c.(898-900)caC>caA	p.H300Q		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	300					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)	p.H300Q(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	ACCCCACACACTCCTGGCAGA	0.711																																						uc010zmn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(898-900)CAC>CAA		neuraminidase 2							35.0	41.0	39.0					2																	233899524		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899524C>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.900C>A	2.37:g.233899524C>A	ENSP00000233840:p.His300Gln						p.H300Q	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	900	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	300					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.900C>A	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	C	6.076	0.382294	0.11524	.	.	ENSG00000115488	ENST00000233840	D	0.83755	-1.76	5.05	3.24	0.37175	Neuraminidase (2);	0.178533	0.38897	N	0.001533	T	0.69886	0.3161	L	0.27053	0.805	0.09310	N	1	P	0.45531	0.86	B	0.39419	0.299	T	0.61865	-0.6975	10	0.48119	T	0.1	-38.6468	7.953	0.30025	0.0:0.7509:0.0:0.2491	.	300	Q9Y3R4	NEUR2_HUMAN	Q	300	ENSP00000233840:H300Q	ENSP00000233840:H300Q	H	+	3	2	NEU2	233607768	0.119000	0.22226	0.016000	0.15963	0.084000	0.17831	0.837000	0.27558	0.527000	0.28560	0.655000	0.94253	CAC		PASS	0.711	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		6	19	6	19	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238289580	238289580	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:238289580C>T	ENST00000295550.4	-	5	2327	c.1875G>A	c.(1873-1875)agG>agA	p.R625R	COL6A3_ENST00000346358.4_Silent_p.R625R|COL6A3_ENST00000392003.2_Silent_p.R218R|COL6A3_ENST00000353578.4_Silent_p.R419R|COL6A3_ENST00000392004.3_Silent_p.R419R|COL6A3_ENST00000409809.1_Silent_p.R419R|COL6A3_ENST00000472056.1_Silent_p.R218R|COL6A3_ENST00000347401.3_Silent_p.R424R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	625	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R625R(1)|p.R419R(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGAGAGGGTCCTGAGAGGTG	0.552																																						uc002vwl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(1873-1875)AGG>AGA		alpha 3 type VI collagen isoform 1 precursor							45.0	38.0	40.0					2																	238289580		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238289580C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1875G>A	2.37:g.238289580C>T						COL6A3_uc002vwo.2_Silent_p.R419R|COL6A3_uc010znj.1_Silent_p.R218R|COL6A3_uc002vwq.2_Silent_p.R419R|COL6A3_uc002vwr.2_Silent_p.R218R|COL6A3_uc010znk.1_Silent_p.R625R	p.R625R	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	5	2160	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	625			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.1875G>A	CCDS33412.1																																																																																				PASS	0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	17	6	17	---	---	---	---
OR6B2	389090	broad.mit.edu	37	2	240969639	240969639	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:240969639C>A	ENST00000402971.2	-	1	267	c.208G>T	c.(208-210)Gag>Tag	p.E70*		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E70*(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TACCAGATCTCCAGGAAAGAC	0.552																																						uc002vyr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(208-210)GAG>TAG		olfactory receptor, family 6, subfamily B,							117.0	126.0	123.0					2																	240969639		2115	4237	6352	SO:0001587	stop_gained	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969639C>A		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.208G>T	2.37:g.240969639C>A	ENSP00000384563:p.Glu70*					OR6B2_uc010zoc.1_Nonsense_Mutation_p.E70*	p.E70*	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	2	254	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	70			Helical; Name=2; (Potential).		B2RPR3|Q8NGW0	Nonsense_Mutation	SNP	ENST00000402971.2	37	c.208G>T	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	N	16.98	3.271038	0.59540	.	.	ENSG00000182083	ENST00000402971	.	.	.	4.36	4.36	0.52297	.	0.323939	0.22021	N	0.065730	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.7691	0.69662	0.0:1.0:0.0:0.0	.	.	.	.	X	70	.	ENSP00000384563:E70X	E	-	1	0	OR6B2	240618312	1.000000	0.71417	0.777000	0.31699	0.029000	0.11900	5.258000	0.65479	2.393000	0.81446	0.591000	0.81541	GAG		PASS	0.552	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		5	87	5	87	---	---	---	---
AQP12A	375318	broad.mit.edu	37	2	241631490	241631490	+	Splice_Site	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr2:241631490G>C	ENST00000337801.4	+	2	192		c.e2-1		AQP12A_ENST00000429564.1_Missense_Mutation_p.E53D|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A							integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.?(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCTGCCTGGAGATGAGGACGC	0.706																																						uc002vzu.2																			1	Unknown(1)		lung(1)		0						c.e2-1		aquaporin 12A							26.0	38.0	34.0					2																	241631490		2129	4262	6391	SO:0001630	splice_region_variant	375318					integral to membrane	transporter activity	g.chr2:241631490G>C	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.124-1G>C	2.37:g.241631490G>C						AQP12A_uc002vzv.2_Intron	p.M42_splice	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	193	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)							Splice_Site	SNP	ENST00000337801.4	37	c.124_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	2.411|2.411	-0.335281|-0.335281	0.05278|0.05278	.|.	.|.	ENSG00000184945|ENSG00000184945	ENST00000337801|ENST00000429564;ENST00000420599	.|T	.|0.17691	.|2.26	2.43|2.43	1.51|1.51	0.23008|0.23008	.|.	.|.	.|.	.|.	.|.	.|T	.|0.23210	.|0.0561	.|.	.|.	.|.	0.34465|0.34465	D|D	0.702197|0.702197	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.38045	.|-0.9679	.|6	.|0.87932	.|D	.|0	.|.	6.8718|6.8718	0.24125|0.24125	0.1623:0.0:0.8376:0.0|0.1623:0.0:0.8376:0.0	.|.	.|.	.|.	.|.	.|D	-1|53;26	.|ENSP00000405899:E53D	.|ENSP00000399666:E26D	.|E	+|+	.|3	.|2	AQP12A|AQP12A	241280163|241280163	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.106000|0.106000	0.19336|0.19336	5.613000|5.613000	0.67688|0.67688	1.382000|1.382000	0.46385|0.46385	0.186000|0.186000	0.17326|0.17326	.|GAG		PASS	0.706	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998	Intron	5	10	5	10	---	---	---	---
SLC26A6	65010	broad.mit.edu	37	3	48670977	48670977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:48670977C>A	ENST00000395550.2	-	2	162	c.115G>T	c.(115-117)Gag>Tag	p.E39*	SLC26A6_ENST00000337000.8_Nonsense_Mutation_p.E39*|SLC26A6_ENST00000455886.2_Nonsense_Mutation_p.E39*|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Nonsense_Mutation_p.E39*|SLC26A6_ENST00000420764.2_Nonsense_Mutation_p.E39*|SLC26A6_ENST00000358747.6_Nonsense_Mutation_p.E18*			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	39					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.E39*(1)	SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCCAAATGCTCCTGGTTCAGC	0.647																																					NSCLC(13;369 479 28271 30152 44026)	uc003cuf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(10297-10299)GAG>TAG		cadherin EGF LAG seven-pass G-type receptor 3							92.0	100.0	97.0					3																	48670977		2071	4197	6268	SO:0001587	stop_gained	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48670977C>A	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.115G>T	3.37:g.48670977C>A	ENSP00000378920:p.Glu39*					SLC26A6_uc003cug.2_Nonsense_Mutation_p.E18*|SLC26A6_uc003cuh.2_Nonsense_Mutation_p.E39*|SLC26A6_uc010hke.2_5'UTR|SLC26A6_uc003cuk.2_Nonsense_Mutation_p.E39*|SLC26A6_uc003cui.2_Nonsense_Mutation_p.E39*|SLC26A6_uc003cuj.2_Nonsense_Mutation_p.E39*|SLC26A6_uc011bbp.1_Nonsense_Mutation_p.E39*	p.E3433*	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	37	10297	-			Error:Variant_position_missing_in_Q9NYQ7_after_alignment					B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Nonsense_Mutation	SNP	ENST00000395550.2	37	c.10297G>T	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185547	0.78677	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	.	.	.	4.97	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	10.6215	0.45483	0.0:0.6558:0.2648:0.0793	.	.	.	.	X	39;39;39;39;39;18;39;39;39	.	ENSP00000307089:E39X	E	-	1	0	SLC26A6	48645981	0.065000	0.20965	0.995000	0.50966	0.817000	0.46193	0.140000	0.16056	0.678000	0.31325	0.561000	0.74099	GAG		PASS	0.647	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		21	44	21	44	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52430701	52430701	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:52430701A>C	ENST00000420323.2	+	72	11759	c.11498A>C	c.(11497-11499)aAg>aCg	p.K3833T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3898	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K3897T(1)|p.K3833T(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGCGCCATAAGTTTGGGCCC	0.567																																						uc011bef.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(3)	3						c.(11497-11499)AAG>ACG		dynein, axonemal, heavy chain 1							104.0	106.0	105.0					3																	52430701		2017	4182	6199	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52430701A>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11498A>C	3.37:g.52430701A>C	ENSP00000401514:p.Lys3833Thr					DNAH1_uc003ddv.2_Missense_Mutation_p.K691T	p.K3833T	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	72	11759	+			3898			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11498A>C	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557537	0.65425	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.12147	2.71	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000001	T	0.47078	0.1426	M	0.93328	3.405	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.60627	-0.7226	10	0.56958	D	0.05	.	13.9574	0.64157	1.0:0.0:0.0:0.0	.	3833;3898	C9JXH6;Q9P2D7-2	.;.	T	3833;586	ENSP00000401514:K3833T	ENSP00000273600:K586T	K	+	2	0	DNAH1	52405741	1.000000	0.71417	0.959000	0.39883	0.867000	0.49689	5.967000	0.70403	1.886000	0.54624	0.482000	0.46254	AAG		PASS	0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		27	26	27	26	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52623085	52623085	+	Splice_Site	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:52623085C>G	ENST00000296302.7	-	18	2967		c.e18+1		PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AACAAACTTACCAGCTGAATC	0.413			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2				Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		3	Unknown(3)		lung(3)	kidney(136)|breast(4)	140						c.e18+1		polybromo 1 isoform 4							122.0	121.0	122.0					3																	52623085		2203	4300	6503	SO:0001630	splice_region_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52623085C>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2965+1G>C	3.37:g.52623085C>G						PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.G989_splice|PBRM1_uc003der.2_Splice_Site_p.G957_splice|PBRM1_uc003det.2_Splice_Site_p.G1004_splice|PBRM1_uc003deu.2_Splice_Site_p.G1004_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.G989_splice|PBRM1_uc010hmk.1_Splice_Site_p.E989_splice|PBRM1_uc003dey.2_Splice_Site_p.E989_splice|PBRM1_uc003dez.1_Splice_Site_p.G988_splice|PBRM1_uc003dfb.1_Splice_Site_p.G901_splice|PBRM1_uc003dfa.1_Splice_Site_p.G335_splice	p.G989_splice	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	18	2977	-								A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37	c.2965_splice		.	.	.	.	.	.	.	.	.	.	C	24.5	4.539992	0.85917	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8903	0.92397	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52598125	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.840000	0.69402	2.448000	0.82819	0.591000	0.81541	.		PASS	0.413	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	26	38	26	38	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53842704	53842704	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:53842704G>A	ENST00000350061.5	+	46	6289	c.5778G>A	c.(5776-5778)gaG>gaA	p.E1926E	CACNA1D_ENST00000544977.1_Silent_p.E305E|CACNA1D_ENST00000288139.4_Silent_p.E1946E|CACNA1D_ENST00000422281.2_Silent_p.E1902E	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1926					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.E1946E(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAACTTTGAGTGCCTGCGCC	0.602																																						uc003dgv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(5776-5778)GAG>GAA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						85.0	75.0	79.0					3																	53842704		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53842704G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5778G>A	3.37:g.53842704G>A						CACNA1D_uc003dgu.3_Silent_p.E1946E|CACNA1D_uc003dgy.3_Silent_p.E1902E|CACNA1D_uc003dgw.3_Silent_p.E1593E|CACNA1D_uc011bes.1_RNA	p.E1926E	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	46	5941	+			1926			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.5778G>A	CCDS46848.1																																																																																				PASS	0.602	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		31	8	31	8	---	---	---	---
DENND6A	201627	broad.mit.edu	37	3	57657985	57657985	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:57657985G>A	ENST00000311128.5	-	3	387	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	106					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S106L(1)									ACAGTTACCTGAATTTGAATC	0.259																																						uc003dja.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(316-318)TCA>TTA		hypothetical protein LOC201627							40.0	44.0	43.0					3																	57657985		2184	4284	6468	SO:0001583	missense	201627							g.chr3:57657985G>A	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.317C>T	3.37:g.57657985G>A	ENSP00000311401:p.Ser106Leu						p.S106L	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	3	388	-			106					Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.317C>T	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951777	0.92660	.	.	ENSG00000174839	ENST00000311128	T	0.41400	1.0	5.69	5.69	0.88448	Afi1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71567	0.3355	M	0.90198	3.095	0.80722	D	1	D	0.59767	0.986	D	0.66979	0.948	T	0.75872	-0.3164	10	0.54805	T	0.06	-14.0185	19.4088	0.94660	0.0:0.0:1.0:0.0	.	106	Q8IWF6	F116A_HUMAN	L	106	ENSP00000311401:S106L	ENSP00000311401:S106L	S	-	2	0	FAM116A	57633025	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.055000	0.89453	2.694000	0.91930	0.484000	0.47621	TCA		PASS	0.259	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		13	10	13	10	---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64133179	64133179	+	Silent	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:64133179G>T	ENST00000295902.6	-	7	1572	c.987C>A	c.(985-987)gcC>gcA	p.A329A	PRICKLE2_ENST00000564377.1_Silent_p.A385A	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	329					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.A329A(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)		CCTTGGCCCTGGCGTTCTGGA	0.587																																						uc003dmf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(985-987)GCC>GCA		prickle-like 2							93.0	105.0	101.0					3																	64133179		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64133179G>T	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.987C>A	3.37:g.64133179G>T							p.A329A	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)	7	1573	-		Lung NSC(201;0.136)	329					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.987C>A	CCDS2902.1																																																																																				PASS	0.587	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		5	80	5	80	---	---	---	---
LSAMP	4045	broad.mit.edu	37	3	116163861	116163861	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:116163861C>A	ENST00000490035.2	-	1	517	c.18G>T	c.(16-18)caG>caT	p.Q6H	LSAMP_ENST00000539563.1_Intron	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	6					cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.Q6H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TCCGATCCGGCTGAACTCTCC	0.632																																						uc003ebt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)CAG>CAT		limbic system-associated membrane protein							72.0	57.0	62.0					3																	116163861		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:116163861C>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.18G>T	3.37:g.116163861C>A	ENSP00000419000:p.Gln6His					LSAMP_uc011bis.1_Missense_Mutation_p.Q6H|LSAMP_uc010hqq.1_RNA	p.Q6H	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	1	518	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	6					Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.18G>T	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992322	0.35131	.	.	ENSG00000185565	ENST00000490035	T	0.49720	0.77	4.74	2.75	0.32379	.	0.418744	0.23134	N	0.051560	T	0.35008	0.0917	N	0.08118	0	0.80722	D	1	B;P	0.51240	0.0;0.943	B;P	0.55667	0.0;0.781	T	0.07233	-1.0783	9	.	.	.	.	6.4765	0.22039	0.1568:0.6719:0.0:0.1713	.	6;6	B2RCU8;Q13449	.;LSAMP_HUMAN	H	6	ENSP00000419000:Q6H	.	Q	-	3	2	LSAMP	117646551	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.973000	0.29422	1.198000	0.43158	0.650000	0.86243	CAG		PASS	0.632	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		4	12	4	12	---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122288791	122288791	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:122288791G>A	ENST00000296161.4	+	3	2044	c.1855G>A	c.(1855-1857)Gtt>Att	p.V619I	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	619					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V619I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGTTTTCACTGTTTCAAGAGA	0.408																																						uc003efk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(1855-1857)GTT>ATT		deltex 3-like							138.0	132.0	134.0					3																	122288791		2203	4300	6503	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122288791G>A		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1855G>A	3.37:g.122288791G>A	ENSP00000296161:p.Val619Ile					DTX3L_uc010hrj.2_Intron	p.V619I	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1944	+			619					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.1855G>A	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	G	9.046	0.990887	0.18966	.	.	ENSG00000163840	ENST00000296161	T	0.20598	2.06	5.11	-8.53	0.00916	.	2.258400	0.01686	N	0.026400	T	0.09730	0.0239	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17228	-1.0376	10	0.15499	T	0.54	-40.4907	5.0958	0.14733	0.2698:0.0762:0.5198:0.1342	.	619	Q8TDB6	DTX3L_HUMAN	I	619	ENSP00000296161:V619I	ENSP00000296161:V619I	V	+	1	0	DTX3L	123771481	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.095000	0.01350	-1.868000	0.01142	-0.266000	0.10368	GTT		PASS	0.408	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		36	80	36	80	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122437429	122437429	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:122437429G>C	ENST00000474629.2	+	14	4697	c.4431G>C	c.(4429-4431)gaG>gaC	p.E1477D	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E1477D(1)|p.E1314D(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGTTGAATGAGCTGCAGAAGA	0.398																																						uc003efq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(4429-4431)GAG>GAC		poly (ADP-ribose) polymerase family, member 14							116.0	117.0	116.0					3																	122437429		1998	4185	6183	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122437429G>C	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4431G>C	3.37:g.122437429G>C	ENSP00000418194:p.Glu1477Asp					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.E1194D|PARP14_uc003efs.1_Missense_Mutation_p.E1194D	p.E1477D	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	14	4490	+			1477					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.4431G>C	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	9.310	1.055218	0.19907	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.09163	3.01	5.23	3.41	0.39046	.	0.553031	0.17964	N	0.156083	T	0.07818	0.0196	L	0.45698	1.435	0.27187	N	0.960522	B;B	0.18461	0.018;0.028	B;B	0.14578	0.011;0.006	T	0.35351	-0.9792	10	0.17832	T	0.49	.	2.0547	0.03578	0.1687:0.1589:0.5078:0.1645	.	1477;1477	Q460N5-4;Q460N5	.;PAR14_HUMAN	D	1477;1396;80;473	ENSP00000418194:E1477D	ENSP00000310633:E80D	E	+	3	2	PARP14	123920119	0.231000	0.23751	0.993000	0.49108	0.701000	0.40568	-0.358000	0.07641	0.756000	0.33013	0.650000	0.86243	GAG		PASS	0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		74	51	74	51	---	---	---	---
COPB2	9276	broad.mit.edu	37	3	139086994	139086994	+	Missense_Mutation	SNP	G	G	A	rs185591728		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:139086994G>A	ENST00000333188.5	-	13	1719	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	COPB2_ENST00000507777.1_Missense_Mutation_p.A484V	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	513					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.A513V(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TACCTCAAAGGCATCTTCAAT	0.348																																						uc003etf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1537-1539)GCC>GTC		coatomer protein complex, subunit beta 2 (beta							129.0	121.0	123.0					3																	139086994		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139086994G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1538C>T	3.37:g.139086994G>A	ENSP00000329419:p.Ala513Val					COPB2_uc011bmv.1_Missense_Mutation_p.A484V|COPB2_uc010hui.2_Missense_Mutation_p.A484V	p.A513V	NM_004766	NP_004757	P35606	COPB2_HUMAN			13	1668	-			513					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1538C>T	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	30	5.058062	0.93846	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000512309	T;D	0.90197	-0.31;-2.63	5.97	5.1	0.69264	Coatomer, WD associated region (1);	0.045054	0.85682	D	0.000000	D	0.96272	0.8784	M	0.92604	3.325	0.80722	D	1	D	0.58620	0.983	D	0.65773	0.938	D	0.97225	0.9880	10	0.87932	D	0	-17.0933	16.9196	0.86160	0.0:0.1358:0.8642:0.0	.	513	P35606	COPB2_HUMAN	V	513;484;136	ENSP00000329419:A513V;ENSP00000422295:A484V	ENSP00000329419:A513V	A	-	2	0	COPB2	140569684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.787000	0.85759	1.533000	0.49186	0.655000	0.94253	GCC		PASS	0.348	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		20	36	20	36	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140251226	140251226	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:140251226T>C	ENST00000458420.3	+	9	1595	c.1405T>C	c.(1405-1407)Tac>Cac	p.Y469H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	469					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.Y469H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGTAACCTTATACATGGATGG	0.423										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1405-1407)TAC>CAC		calsyntenin 2 precursor							157.0	137.0	144.0					3																	140251226		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140251226T>C	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1405T>C	3.37:g.140251226T>C	ENSP00000402460:p.Tyr469His	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.Y469H	p.Y469H	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			9	1595	+			469			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1405T>C	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587738	0.86851	.	.	ENSG00000158258	ENST00000458420	D	0.88277	-2.36	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.105067	0.64402	D	0.000003	D	0.93012	0.7776	M	0.67700	2.07	0.51012	D	0.999906	D	0.76494	0.999	D	0.71184	0.972	D	0.92734	0.6202	9	.	.	.	0.5295	13.8675	0.63598	0.0:0.0:0.0:1.0	.	469	Q9H4D0	CSTN2_HUMAN	H	469	ENSP00000402460:Y469H	.	Y	+	1	0	CLSTN2	141733916	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.040000	0.89188	2.178000	0.69098	0.533000	0.62120	TAC		PASS	0.423	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		62	7	62	7	---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148789184	148789184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:148789184C>T	ENST00000310053.5	-	7	942	c.749G>A	c.(748-750)tGg>tAg	p.W250*	HLTF_ENST00000494055.1_Nonsense_Mutation_p.W250*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.W250*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.W250*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	250					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.W250*(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGACACCATCCAAGCTAGAGC	0.368																																						uc003ewq.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(748-750)TGG>TAG		helicase-like transcription factor							125.0	118.0	120.0					3																	148789184		2203	4300	6503	SO:0001587	stop_gained	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148789184C>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.749G>A	3.37:g.148789184C>T	ENSP00000308944:p.Trp250*					HLTF_uc003ewr.1_Nonsense_Mutation_p.W250*|HLTF_uc003ews.1_Nonsense_Mutation_p.W250*|HLTF_uc010hve.1_Nonsense_Mutation_p.W250*	p.W250*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		7	967	-			250					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	ENST00000310053.5	37	c.749G>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.182382	0.98118	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	.	.	.	5.28	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.4742	13.1552	0.59514	0.0:0.9211:0.0:0.0789	.	.	.	.	X	250;250;250;250;247;247	.	ENSP00000308944:W250X	W	-	2	0	HLTF	150271874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.929000	0.75852	1.362000	0.46000	0.655000	0.94253	TGG		PASS	0.368	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			15	24	15	24	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179399768	179399768	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:179399768C>T	ENST00000263966.3	+	2	742	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.H26Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	91					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.H91Y(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGTATACATGCACCTGAAAAG	0.443																																						uc003fkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(271-273)CAC>TAC		ubiquitin thiolesterase 13							142.0	141.0	141.0					3																	179399768		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179399768C>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.271C>T	3.37:g.179399768C>T	ENSP00000263966:p.His91Tyr					USP13_uc003fkf.2_Missense_Mutation_p.H91Y	p.H91Y	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		2	352	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		91					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.271C>T	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550136	0.86127	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.16073	2.37;2.4	5.67	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	M	0.79614	2.46	0.80722	D	1	D;D	0.76494	0.999;0.984	D;D	0.69479	0.964;0.918	T	0.43523	-0.9386	10	0.66056	D	0.02	-9.5955	14.5495	0.68057	0.0:0.9286:0.0:0.0714	.	91;91	Q92995;A8K2S3	UBP13_HUMAN;.	Y	91;26	ENSP00000263966:H91Y;ENSP00000417146:H26Y	ENSP00000263966:H91Y	H	+	1	0	USP13	180882462	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.648000	0.67930	1.404000	0.46819	0.557000	0.71058	CAC		PASS	0.443	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			62	55	62	55	---	---	---	---
TFRC	7037	broad.mit.edu	37	3	195800873	195800873	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:195800873C>T	ENST00000360110.4	-	4	531	c.362G>A	c.(361-363)cGc>cAc	p.R121H	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Intron|RNU7-18P_ENST00000516365.1_RNA|TFRC_ENST00000420415.1_Missense_Mutation_p.R40H|TFRC_ENST00000392396.3_Missense_Mutation_p.R121H	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	121					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.R121H(2)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CCAATATAAGCGACGTGCTGC	0.517			T	BCL6	NHL						OREG0016005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fvz.3				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(3)	3						c.(361-363)CGC>CAC		transferrin receptor							100.0	92.0	95.0					3																	195800873		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195800873C>T	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.362G>A	3.37:g.195800873C>T	ENSP00000353224:p.Arg121His		OREG0016005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2078	TFRC_uc003fwa.3_Missense_Mutation_p.R121H|TFRC_uc010hzy.2_Missense_Mutation_p.R40H|TFRC_uc011btr.1_Intron	p.R121H	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	4	645	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		121			Extracellular (Potential).		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.362G>A	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	6.975	0.549877	0.13374	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	T;T;T	0.32988	1.43;1.43;1.43	5.5	-0.264	0.12950	.	0.895585	0.09826	N	0.750902	T	0.22898	0.0553	L	0.35644	1.08	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.24835	-1.0149	10	0.44086	T	0.13	-0.2667	8.6116	0.33806	0.0:0.489:0.0:0.511	.	121	P02786	TFR1_HUMAN	H	121;40;121	ENSP00000353224:R121H;ENSP00000390133:R40H;ENSP00000376197:R121H	ENSP00000353224:R121H	R	-	2	0	TFRC	197285270	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.282000	0.02799	-0.252000	0.09528	-0.216000	0.12614	CGC		PASS	0.517	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			42	27	42	27	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36115803	36115803	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr4:36115803T>C	ENST00000303965.4	-	26	4634	c.4145A>G	c.(4144-4146)aAt>aGt	p.N1382S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1382	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.N1382S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAGCTCTTCATTTTCAATGAC	0.289																																						uc003gsq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4144-4146)AAT>AGT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							118.0	131.0	126.0					4																	36115803		2202	4292	6494	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36115803T>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4145A>G	4.37:g.36115803T>C	ENSP00000302895:p.Asn1382Ser						p.N1382S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			26	4483	-			1382			Ras-associating.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.4145A>G	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239279	0.79800	.	.	ENSG00000047365	ENST00000303965	T	0.15952	2.38	5.89	5.89	0.94794	Ras-association (2);	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	M	0.61703	1.905	0.51767	D	0.999937	D	0.67145	0.996	D	0.68765	0.96	T	0.07693	-1.0759	10	0.49607	T	0.09	.	16.3083	0.82859	0.0:0.0:0.0:1.0	.	1382	Q8WZ64	ARAP2_HUMAN	S	1382	ENSP00000302895:N1382S	ENSP00000302895:N1382S	N	-	2	0	ARAP2	35792198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.336000	0.72954	2.250000	0.74265	0.455000	0.32223	AAT		PASS	0.289	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		38	38	38	38	---	---	---	---
BEND4	389206	broad.mit.edu	37	4	42145670	42145670	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr4:42145670C>T	ENST00000502486.1	-	3	1408	c.829G>A	c.(829-831)Gcc>Acc	p.A277T	BEND4_ENST00000504360.1_Missense_Mutation_p.A273T	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	277								p.A273T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCCACGTCGGCCAGATGGCCA	0.517																																						uc003gwn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)GCC>ACC		BEN domain containing 4 isoform a							67.0	68.0	68.0					4																	42145670		1939	4140	6079	SO:0001583	missense	389206							g.chr4:42145670C>T	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.829G>A	4.37:g.42145670C>T	ENSP00000421169:p.Ala277Thr					BEND4_uc003gwm.2_Missense_Mutation_p.A277T|BEND4_uc011byy.1_Missense_Mutation_p.A277T	p.A277T	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			3	1409	-			277					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.829G>A	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269258	0.59540	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.4	5.4	0.78164	.	0.179300	0.49916	D	0.000134	T	0.39682	0.1087	N	0.12182	0.205	0.46798	D	0.999209	B;B;B	0.20052	0.041;0.024;0.018	B;B;B	0.16722	0.016;0.005;0.011	T	0.27262	-1.0079	9	0.45353	T	0.12	-11.7981	12.5046	0.55973	0.0:0.9238:0.0:0.0762	.	199;277;277	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	T	148;277;273	.	ENSP00000412495:A148T	A	-	1	0	BEND4	41840427	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	4.489000	0.60309	2.542000	0.85734	0.563000	0.77884	GCC		PASS	0.517	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		16	13	16	13	---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46930488	46930488	+	Silent	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr4:46930488A>G	ENST00000264318.3	-	9	2401	c.1419T>C	c.(1417-1419)gcT>gcC	p.A473A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	473					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A473A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GACGAGTAGAAGCAGATCCAA	0.478																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1417-1419)GCT>GCC		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						127.0	116.0	120.0					4																	46930488		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930488A>G		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1419T>C	4.37:g.46930488A>G							p.A473A	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1558	-			473			Cytoplasmic (Probable).		Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.1419T>C	CCDS3473.1																																																																																				PASS	0.478	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			15	24	15	24	---	---	---	---
HERC6	55008	broad.mit.edu	37	4	89363429	89363429	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr4:89363429G>C	ENST00000264346.7	+	23	2945	c.2886G>C	c.(2884-2886)caG>caC	p.Q962H	HERC6_ENST00000380265.5_Missense_Mutation_p.Q926H	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	962	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q962H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAGGCATACAGAAAATGGAAA	0.343																																						uc011cdi.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|kidney(1)	5						c.(2884-2886)CAG>CAC		hect domain and RLD 6 isoform 1							73.0	68.0	69.0					4																	89363429		1862	4103	5965	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89363429G>C	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2886G>C	4.37:g.89363429G>C	ENSP00000264346:p.Gln962His					HERC6_uc011cdj.1_Missense_Mutation_p.Q926H|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.Q962H	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	23	3069	+		Hepatocellular(203;0.114)	962			HECT.		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.2886G>C	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336485	0.24253	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.59224	0.28;0.28	4.69	0.67	0.17923	HECT (4);	1.035170	0.07664	N	0.934292	T	0.61489	0.2351	M	0.64997	1.995	0.09310	N	1	P;P	0.49696	0.911;0.927	P;P	0.55161	0.66;0.77	T	0.50709	-0.8796	10	0.59425	D	0.04	.	0.8137	0.01098	0.1794:0.2391:0.3094:0.272	.	926;962	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	H	926;962	ENSP00000369617:Q926H;ENSP00000264346:Q962H	ENSP00000264346:Q962H	Q	+	3	2	HERC6	89582452	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	0.232000	0.17891	0.274000	0.22072	0.591000	0.81541	CAG		PASS	0.343	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			8	9	8	9	---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122079902	122079902	+	Silent	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr4:122079902C>A	ENST00000509841.1	-	6	462	c.384G>T	c.(382-384)ctG>ctT	p.L128L	TNIP3_ENST00000057513.3_Silent_p.L51L|TNIP3_ENST00000454328.1_Silent_p.L51L|TNIP3_ENST00000507879.1_Silent_p.L121L	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.L51L(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GGTTAACTTCCAGGAGCTGAA	0.323																																						uc010ing.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(151-153)CTG>CTT		TNFAIP3 interacting protein 3							76.0	79.0	78.0					4																	122079902		2202	4300	6502	SO:0001819	synonymous_variant	79931							g.chr4:122079902C>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.384G>T	4.37:g.122079902C>A						TNIP3_uc010inh.2_Silent_p.L51L|TNIP3_uc011cgj.1_Silent_p.L109L|TNIP3_uc010ini.2_Silent_p.L51L	p.L51L	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN			3	349	-			51			Potential.			Silent	SNP	ENST00000509841.1	37	c.153G>T	CCDS58926.1																																																																																				PASS	0.323	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		20	9	20	9	---	---	---	---
CYP4V2	285440	broad.mit.edu	37	4	187118688	187118688	+	Splice_Site	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr4:187118688A>T	ENST00000378802.4	+	5	910	c.606A>T	c.(604-606)gaA>gaT	p.E202D		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	202					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.E202D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ATTTTATAGAAACAGCTATGG	0.383																																						uc003iyw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)GAA>GAT		cytochrome P450, family 4, subfamily v,							116.0	120.0	119.0					4																	187118688		2203	4300	6503	SO:0001630	splice_region_variant	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187118688A>T	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.605-1A>T	4.37:g.187118688A>T							p.E202D	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	5	910	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	202					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.606A>T	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981269	0.74474	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.68624	-0.34	5.2	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	M	0.64404	1.975	0.80722	D	1	D	0.54207	0.965	P	0.57371	0.819	T	0.71310	-0.4631	10	0.59425	D	0.04	.	9.2059	0.37289	0.8514:0.0:0.1486:0.0	.	202	Q6ZWL3	CP4V2_HUMAN	D	202;180	ENSP00000368079:E202D	ENSP00000274118:E180D	E	+	3	2	CYP4V2	187355682	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.092000	0.64511	0.449000	0.26747	-0.250000	0.11733	GAA		PASS	0.383	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612	Missense_Mutation	11	20	11	20	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187539652	187539652	+	Silent	SNP	C	C	T	rs372629114		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr4:187539652C>T	ENST00000441802.2	-	10	8297	c.8088G>A	c.(8086-8088)ccG>ccA	p.P2696P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2696	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2696P(1)|p.P2699P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTGCATTTCCGGTGGAAGGA	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8086-8088)CCG>CCA		FAT tumor suppressor 1 precursor		C		0,3688		0,0,1844	112.0	113.0	113.0		8088	-8.4	0.0	4		113	1,8165		0,1,4082	no	coding-synonymous	FAT1	NM_005245.3		0,1,5926	TT,TC,CC		0.0122,0.0,0.0084		2696/4589	187539652	1,11853	1844	4083	5927	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539652C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8088G>A	4.37:g.187539652C>T		HNSCC(5;0.00058)					p.P2696P	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8276	-			2696			Extracellular (Potential).|Cadherin 24.			Silent	SNP	ENST00000441802.2	37	c.8088G>A	CCDS47177.1																																																																																				PASS	0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		38	59	38	59	---	---	---	---
SLC6A19	340024	broad.mit.edu	37	5	1221346	1221346	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:1221346T>C	ENST00000304460.10	+	11	1675	c.1619T>C	c.(1618-1620)cTg>cCg	p.L540P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	540					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.L540P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTCAGCCCCCTGCTCATGCTG	0.557																																						uc003jbw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1618-1620)CTG>CCG		solute carrier family 6, member 19							178.0	128.0	145.0					5																	1221346		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1221346T>C	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1619T>C	5.37:g.1221346T>C	ENSP00000305302:p.Leu540Pro						p.L540P	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	1675	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		540			Helical; Name=11; (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1619T>C	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.393425	0.42410	.	.	ENSG00000174358	ENST00000304460	T	0.76709	-1.04	4.81	4.81	0.61882	.	0.372487	0.28011	N	0.016953	D	0.89476	0.6726	M	0.89534	3.04	0.80722	D	1	D	0.64830	0.994	D	0.70487	0.969	D	0.91707	0.5378	10	0.87932	D	0	.	14.3786	0.66897	0.0:0.0:0.0:1.0	.	540	Q695T7	S6A19_HUMAN	P	540	ENSP00000305302:L540P	ENSP00000305302:L540P	L	+	2	0	SLC6A19	1274346	0.994000	0.37717	0.005000	0.12908	0.017000	0.09413	7.825000	0.86693	1.808000	0.52836	0.402000	0.26972	CTG		PASS	0.557	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		8	32	8	32	---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3599450	3599450	+	Silent	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:3599450C>A	ENST00000302006.3	+	2	440	c.388C>A	c.(388-390)Cgg>Agg	p.R130R	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	130					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R130R(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGACCCCGGGCGGCCCAAGAA	0.647																																						uc003jde.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(388-390)CGG>AGG		iroquois homeobox protein 1							59.0	59.0	59.0					5																	3599450		2203	4300	6503	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599450C>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.388C>A	5.37:g.3599450C>A							p.R130R	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	440	+			130			Homeobox; TALE-type.		Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.388C>A	CCDS34132.1																																																																																				PASS	0.647	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		20	20	20	20	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7707871	7707871	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:7707871G>C	ENST00000338316.4	+	9	1410	c.1321G>C	c.(1321-1323)Gtg>Ctg	p.V441L	ADCY2_ENST00000537121.1_Missense_Mutation_p.V261L|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	441					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.V441L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGCTTATAAAGTGGAGGAGGG	0.408																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1321-1323)GTG>CTG		adenylate cyclase 2							126.0	125.0	125.0					5																	7707871		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7707871G>C	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1321G>C	5.37:g.7707871G>C	ENSP00000342952:p.Val441Leu					ADCY2_uc011cmo.1_Missense_Mutation_p.V261L	p.V441L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			9	1388	+			441			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1321G>C	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	36	5.869311	0.97049	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.84370	-1.84;-1.84	5.96	5.96	0.96718	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	L	0.31804	0.96	0.58432	D	0.999996	P;P	0.52170	0.89;0.951	P;P	0.57101	0.741;0.813	D	0.88069	0.2799	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	261;441	B7Z2C1;Q08462	.;ADCY2_HUMAN	L	441;292;261	ENSP00000342952:V441L;ENSP00000444803:V261L	ENSP00000342952:V441L	V	+	1	0	ADCY2	7760871	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.450000	0.97607	2.831000	0.97527	0.650000	0.86243	GTG		PASS	0.408	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		22	75	22	75	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13862706	13862706	+	Missense_Mutation	SNP	C	C	T	rs374072143		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:13862706C>T	ENST00000265104.4	-	29	4851	c.4747G>A	c.(4747-4749)Gcc>Acc	p.A1583T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1583	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1583T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCATGTTGGCGATGATTTCC	0.453									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4747-4749)GCC>ACC		dynein, axonemal, heavy chain 5		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	132.0	126.0	128.0		4747	2.5	0.9	5		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH5	NM_001369.2	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	1583/4625	13862706	2,13004	2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13862706C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4747G>A	5.37:g.13862706C>T	ENSP00000265104:p.Ala1583Thr						p.A1583T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			29	4789	-	Lung NSC(4;0.00476)		1583			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4747G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	9.150	1.015915	0.19355	2.27E-4	1.16E-4	ENSG00000039139	ENST00000265104	T	0.60548	0.18	5.22	2.47	0.30058	Dynein heavy chain, domain-2 (1);	0.166180	0.52532	N	0.000078	T	0.33702	0.0872	N	0.16130	0.375	0.44168	D	0.996978	B	0.06786	0.001	B	0.13407	0.009	T	0.05550	-1.0878	10	0.13470	T	0.59	.	8.0595	0.30625	0.1294:0.7318:0.0:0.1387	.	1583	Q8TE73	DYH5_HUMAN	T	1583	ENSP00000265104:A1583T	ENSP00000265104:A1583T	A	-	1	0	DNAH5	13915706	0.791000	0.28800	0.941000	0.38009	0.873000	0.50193	1.559000	0.36320	0.225000	0.20959	0.650000	0.86243	GCC		PASS	0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		9	56	9	56	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21752268	21752268	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:21752268C>A	ENST00000382254.1	-	15	3049	c.1963G>T	c.(1963-1965)Gac>Tac	p.D655Y	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.D655Y|CDH12_ENST00000522262.1_Missense_Mutation_p.D615Y|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	655					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.D655Y(1)|p.D655H(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGACGTTGTCTCTGATGTCT	0.453										HNSCC(59;0.17)																												uc010iuc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1963-1965)GAC>TAC		cadherin 12, type 2 preproprotein							99.0	91.0	94.0					5																	21752268		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752268C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1963G>T	5.37:g.21752268C>A	ENSP00000371689:p.Asp655Tyr	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.D615Y|CDH12_uc003jgk.2_Missense_Mutation_p.D655Y|uc003jgj.2_Intron	p.D655Y	NM_004061	NP_004052	P55289	CAD12_HUMAN			12	2421	-			655			Cytoplasmic (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1963G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097444	0.76870	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.79749	-1.3;-1.3;-1.3	5.27	5.27	0.74061	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.94684	0.7868	10	0.87932	D	0	.	18.8936	0.92414	0.0:1.0:0.0:0.0	.	615;655	B7Z2U6;P55289	.;CAD12_HUMAN	Y	655;655;615	ENSP00000423577:D655Y;ENSP00000371689:D655Y;ENSP00000428786:D615Y	ENSP00000371689:D655Y	D	-	1	0	CDH12	21788025	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.487000	0.81328	2.477000	0.83638	0.467000	0.42956	GAC		PASS	0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		35	43	35	43	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23521148	23521148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:23521148C>A	ENST00000296682.3	+	6	550	c.368C>A	c.(367-369)tCa>tAa	p.S123*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	123					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.S123*(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						CCCAAGGCGTCATTCAGTAAT	0.398										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(367-369)TCA>TAA		PR domain containing 9							81.0	77.0	78.0					5																	23521148		1873	4107	5980	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23521148C>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.368C>A	5.37:g.23521148C>A	ENSP00000296682:p.Ser123*	HNSCC(3;0.000094)					p.S123*	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			6	550	+			123					B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.368C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743019	0.69418	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.12	1.28	0.21552	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	0.0053	5.4161	0.16374	0.0:0.7232:0.0:0.2768	.	.	.	.	X	123	.	ENSP00000296682:S123X	S	+	2	0	PRDM9	23556905	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.460000	0.21924	0.337000	0.23665	0.531000	0.56144	TCA		PASS	0.398	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		20	36	20	36	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33624402	33624402	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:33624402C>G	ENST00000504830.1	-	14	2412	c.2077G>C	c.(2077-2079)Gtg>Ctg	p.V693L	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	693	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V693L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCAGGCACACACCGCAGCGA	0.517										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2077-2079)GTG>CTG		ADAM metallopeptidase with thrombospondin type 1							100.0	81.0	87.0					5																	33624402		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33624402C>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2077G>C	5.37:g.33624402C>G	ENSP00000422554:p.Val693Leu	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.V693L	NM_030955	NP_112217	P58397	ATS12_HUMAN			14	2240	-			693			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2077G>C	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378948	0.82682	.	.	ENSG00000151388	ENST00000504830	T	0.71817	-0.6	5.87	5.01	0.66863	.	0.054099	0.85682	D	0.000000	D	0.83538	0.5276	M	0.88241	2.94	0.80722	D	1	D	0.61080	0.989	P	0.60949	0.881	D	0.86276	0.1664	10	0.72032	D	0.01	.	11.3534	0.49602	0.0:0.8618:0.0:0.1382	.	693	P58397	ATS12_HUMAN	L	693	ENSP00000422554:V693L	ENSP00000422554:V693L	V	-	1	0	ADAMTS12	33660159	1.000000	0.71417	0.923000	0.36655	0.674000	0.39518	4.851000	0.62896	1.636000	0.50526	-0.136000	0.14681	GTG		PASS	0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		17	52	17	52	---	---	---	---
ELOVL7	79993	broad.mit.edu	37	5	60062459	60062459	+	Splice_Site	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:60062459T>A	ENST00000508821.1	-	6	651		c.e6-2		ELOVL7_ENST00000425382.1_Splice_Site|ELOVL7_ENST00000438340.1_Splice_Site|ELOVL7_ENST00000505959.1_Splice_Site	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7						cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ACGTGCCATCTGCAGAAGCAC	0.308																																						uc003jsi.3																			1	Unknown(1)		lung(1)		0						c.e6-1		elongation of very long chain fatty acids-like							81.0	80.0	80.0					5																	60062459		2203	4300	6503	SO:0001630	splice_region_variant	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60062459T>A	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.337-2A>T	5.37:g.60062459T>A						ELOVL7_uc011cqo.1_Splice_Site_p.M26_splice|ELOVL7_uc010iwk.2_Splice_Site_p.M113_splice|ELOVL7_uc003jsj.3_Splice_Site_p.M100_splice	p.M113_splice	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN			6	537	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)						Q589T3|Q9H5D0|Q9NT66	Splice_Site	SNP	ENST00000508821.1	37	c.337_splice	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986284	0.35036	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6196	0.68574	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELOVL7	60098216	1.000000	0.71417	0.999000	0.59377	0.136000	0.21042	7.123000	0.77176	2.237000	0.73441	0.528000	0.53228	.		PASS	0.308	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1		Intron	45	2	45	2	---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66461703	66461703	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:66461703C>T	ENST00000403625.2	+	29	6991	c.6696C>T	c.(6694-6696)ctC>ctT	p.L2232L	MAST4_ENST00000404260.3_Silent_p.L2235L|MAST4_ENST00000403666.1_Silent_p.L2043L|MAST4_ENST00000405643.1_Silent_p.L2053L|MAST4_ENST00000261569.7_Silent_p.L2038L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2235						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.L2235L(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTCAGTCCCTCGGTGGCTCTA	0.617																																						uc003jut.1																			1	Substitution - coding silent(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(6127-6129)CTC>CTT		microtubule associated serine/threonine kinase							31.0	34.0	33.0					5																	66461703		1915	4120	6035	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461703C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6696C>T	5.37:g.66461703C>T						MAST4_uc003juw.2_Silent_p.L1971L|MAST4_uc003jux.2_Intron	p.L2043L	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	6197	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2235					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.6129C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	4.049	0.006815	0.07866	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.86	-8.84	0.00803	.	.	.	.	.	T	0.30823	0.0777	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36407	-0.9749	4	.	.	.	-0.3275	12.7046	0.57054	0.0:0.1094:0.5807:0.3099	.	.	.	.	W	1289	.	.	R	+	1	2	MAST4	66497459	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.043000	0.00631	-2.448000	0.00545	-0.305000	0.09177	CGG		PASS	0.617	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			13	19	13	19	---	---	---	---
PDE8B	8622	broad.mit.edu	37	5	76640754	76640754	+	Nonsense_Mutation	SNP	C	C	T	rs144671246		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:76640754C>T	ENST00000264917.5	+	7	919	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	PDE8B_ENST00000342343.4_Nonsense_Mutation_p.Q272*|PDE8B_ENST00000340978.3_Nonsense_Mutation_p.Q292*|PDE8B_ENST00000333194.4_Nonsense_Mutation_p.Q292*|PDE8B_ENST00000346042.3_Nonsense_Mutation_p.Q292*	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	292	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Q292*(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CCACGTGATTCAGGTATGGAA	0.363																																						uc003kfa.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(874-876)CAG>TAG		phosphodiesterase 8B isoform 1							126.0	119.0	121.0					5																	76640754		2203	4300	6503	SO:0001587	stop_gained	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76640754C>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.874C>T	5.37:g.76640754C>T	ENSP00000264917:p.Gln292*					PDE8B_uc003kfb.2_Nonsense_Mutation_p.Q272*|PDE8B_uc003kfc.2_Nonsense_Mutation_p.Q292*|PDE8B_uc003kfd.2_Nonsense_Mutation_p.Q292*|PDE8B_uc003kfe.2_Nonsense_Mutation_p.Q292*	p.Q292*	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	7	919	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	292			PAS.		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Nonsense_Mutation	SNP	ENST00000264917.5	37	c.874C>T	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	37	6.182994	0.97357	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	.	.	.	6.05	6.05	0.98169	.	0.115691	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3727	0.94495	0.0:1.0:0.0:0.0	.	.	.	.	X	292;292;292;272;292;54	.	ENSP00000264917:Q292X	Q	+	1	0	PDE8B	76676510	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.137000	0.77295	2.878000	0.98634	0.650000	0.86243	CAG		PASS	0.363	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		20	23	20	23	---	---	---	---
HSPA9	3313	broad.mit.edu	37	5	137906809	137906809	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:137906809C>A	ENST00000297185.3	-	4	375	c.250G>T	c.(250-252)Gcc>Tcc	p.A84S		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	84					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.A84S(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGGTTCTGGCACCTTCGGCA	0.478																																						uc003ldf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GCC>TCC		heat shock 70kDa protein 9 precursor							72.0	63.0	66.0					5																	137906809		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137906809C>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.250G>T	5.37:g.137906809C>A	ENSP00000297185:p.Ala84Ser					HSPA9_uc011cyw.1_Missense_Mutation_p.A15S	p.A84S	NM_004134	NP_004125	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	358	-			84					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.250G>T	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258990	0.59321	.	.	ENSG00000113013	ENST00000297185;ENST00000540484;ENST00000504810;ENST00000507886	T;T;T	0.15603	2.41;2.41;3.91	5.34	5.34	0.76211	.	0.048319	0.85682	D	0.000000	T	0.14830	0.0358	N	0.20574	0.59	0.80722	D	1	B;B	0.19331	0.011;0.035	B;B	0.24006	0.034;0.05	T	0.06881	-1.0802	10	0.38643	T	0.18	-12.5349	18.9986	0.92824	0.0:1.0:0.0:0.0	.	15;84	B7Z1V7;P38646	.;GRP75_HUMAN	S	84;70;15;15	ENSP00000297185:A84S;ENSP00000425598:A15S;ENSP00000423098:A15S	ENSP00000297185:A84S	A	-	1	0	HSPA9	137934708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.807000	0.62576	2.657000	0.90304	0.655000	0.94253	GCC		PASS	0.478	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		14	27	14	27	---	---	---	---
PURA	5813	broad.mit.edu	37	5	139494223	139494223	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:139494223C>T	ENST00000331327.3	+	1	516	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	153					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)	p.R153C(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGAGAACCGCAAGTACTA	0.706																																						uc003lfa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)CGC>TGC		purine-rich element binding protein A							15.0	18.0	17.0					5																	139494223		2197	4291	6488	SO:0001583	missense	5813				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	g.chr5:139494223C>T	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.457C>T	5.37:g.139494223C>T	ENSP00000332706:p.Arg153Cys						p.R153C	NM_005859	NP_005850	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	516	+			153						Missense_Mutation	SNP	ENST00000331327.3	37	c.457C>T	CCDS4220.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917719	0.92249	.	.	ENSG00000185129	ENST00000331327	T	0.51817	0.69	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77078	-0.2721	10	0.87932	D	0	-18.3002	17.9042	0.88913	0.0:1.0:0.0:0.0	.	153	Q00577	PURA_HUMAN	C	153	ENSP00000332706:R153C	ENSP00000332706:R153C	R	+	1	0	PURA	139474407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.531000	0.36018	2.564000	0.86499	0.655000	0.94253	CGC		PASS	0.706	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	NM_005859		4	14	4	14	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140568338	140568338	+	IGR	SNP	A	A	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:140568338A>C	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGGCACCAACGCCCAGGT	0.647																																						uc003liw.1																			0					0						c.(1447-1449)AAC>CAC		protocadherin beta 9 precursor							87.0	105.0	99.0					5																	140568338		2203	4296	6499	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568338A>C	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568338A>C							p.N483H	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	1447	+			483			Extracellular (Potential).|Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1447A>C	CCDS4251.1																																																																																				PASS	0.647	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		100	13	100	13	---	---	---	---
FCHSD1	89848	broad.mit.edu	37	5	141026213	141026213	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:141026213C>A	ENST00000435817.2	-	11	1051	c.1001G>T	c.(1000-1002)aGc>aTc	p.S334I	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.S332I|FCHSD1_ENST00000522126.1_Missense_Mutation_p.S258I	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	334								p.S334I(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGCTCGGCTGGTCAAGCG	0.602																																						uc003llk.2																		FCHSD1/BRAF(2)	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1000-1002)AGC>ATC		FCH and double SH3 domains 1							35.0	39.0	38.0					5																	141026213		2008	4153	6161	SO:0001583	missense	89848							g.chr5:141026213C>A	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1001G>T	5.37:g.141026213C>A	ENSP00000399259:p.Ser334Ile					FCHSD1_uc010jgg.2_5'UTR|FCHSD1_uc003llj.2_RNA	p.S334I	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1052	-			334					Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.1001G>T	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634173	0.67130	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783	T;T;T	0.47528	1.61;0.84;1.25	5.17	2.36	0.29203	.	0.140580	0.43260	D	0.000590	T	0.36166	0.0957	L	0.50333	1.59	0.34320	D	0.686515	B	0.33135	0.399	B	0.35039	0.194	T	0.48068	-0.9067	10	0.87932	D	0	-15.0758	2.031	0.03529	0.1205:0.427:0.217:0.2355	.	334	Q86WN1	FCSD1_HUMAN	I	334;258;332	ENSP00000399259:S334I;ENSP00000427796:S258I;ENSP00000428677:S332I	ENSP00000399259:S334I	S	-	2	0	FCHSD1	141006397	0.998000	0.40836	0.753000	0.31225	0.982000	0.71751	0.611000	0.24268	0.686000	0.31488	0.462000	0.41574	AGC		PASS	0.602	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		3	14	3	14	---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148207577	148207577	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:148207577C>G	ENST00000305988.4	+	1	1422	c.1183C>G	c.(1183-1185)Cct>Gct	p.P395A		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	395					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.P395A(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	AGGTACTGTGCCTAGCGATAA	0.463																																						uc003lpr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1183-1185)CCT>GCT		adrenergic, beta-2-, receptor, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						76.0	82.0	80.0					5																	148207577		2203	4300	6503	SO:0001583	missense	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207577C>G	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.1183C>G	5.37:g.148207577C>G	ENSP00000305372:p.Pro395Ala					SH3TC2_uc003lpp.1_Intron	p.P395A	NM_000024	NP_000015	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1422	+			395			Cytoplasmic.		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.1183C>G	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	C	7.747	0.702546	0.15172	.	.	ENSG00000169252	ENST00000305988	T	0.64260	-0.09	5.68	5.68	0.88126	.	0.094398	0.46442	D	0.000298	T	0.60599	0.2281	M	0.72118	2.19	0.41124	D	0.985832	B	0.12013	0.005	B	0.06405	0.002	T	0.56068	-0.8040	10	0.25751	T	0.34	.	14.0109	0.64495	0.0:0.928:0.0:0.072	.	395	P07550	ADRB2_HUMAN	A	395	ENSP00000305372:P395A	ENSP00000305372:P395A	P	+	1	0	ADRB2	148187770	0.293000	0.24371	1.000000	0.80357	0.870000	0.49936	0.686000	0.25392	2.683000	0.91414	0.561000	0.74099	CCT		PASS	0.463	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		19	46	19	46	---	---	---	---
ARSI	340075	broad.mit.edu	37	5	149676856	149676856	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:149676856C>T	ENST00000328668.7	-	2	2210	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	544					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R544H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTTTCTTGCGACGACCCCG	0.537																																						uc003lrv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1630-1632)CGC>CAC		arylsulfatase family, member I precursor							119.0	124.0	122.0					5																	149676856		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149676856C>T	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1631G>A	5.37:g.149676856C>T	ENSP00000333395:p.Arg544His						p.R544H	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	2220	-			544					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1631G>A	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875158	0.33162	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.97303	-4.33;-3.43	3.7	3.7	0.42460	.	0.186500	0.44483	D	0.000450	D	0.90535	0.7034	N	0.19112	0.55	0.38460	D	0.947189	P	0.42973	0.796	B	0.32864	0.154	D	0.90708	0.4625	10	0.59425	D	0.04	.	7.8087	0.29217	0.0:0.8105:0.0:0.1895	.	544	Q5FYB1	ARSI_HUMAN	H	544;401	ENSP00000333395:R544H;ENSP00000426879:R401H	ENSP00000333395:R544H	R	-	2	0	ARSI	149657049	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.409000	0.34680	2.356000	0.79943	0.643000	0.83706	CGC		PASS	0.537	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		64	35	64	35	---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158621750	158621750	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:158621750G>A	ENST00000424310.2	-	3	626	c.267C>T	c.(265-267)ctC>ctT	p.L89L	RNF145_ENST00000274542.2_Silent_p.L117L|RNF145_ENST00000521606.2_Silent_p.L106L|RNF145_ENST00000519865.1_Silent_p.L89L|RNF145_ENST00000520638.1_Silent_p.L103L|RNF145_ENST00000518802.1_Silent_p.L119L	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	89						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L117L(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCATAGAGGAGCAGAGCAG	0.348																																						uc003lxp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(265-267)CTC>CTT		ring finger protein 145							109.0	122.0	118.0					5																	158621750		2203	4300	6503	SO:0001819	synonymous_variant	153830					integral to membrane	zinc ion binding	g.chr5:158621750G>A	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.267C>T	5.37:g.158621750G>A						RNF145_uc011ddy.1_Silent_p.L103L|RNF145_uc003lxo.1_Silent_p.L117L|RNF145_uc011ddz.1_Silent_p.L106L|RNF145_uc010jiq.1_Silent_p.L119L|RNF145_uc011dea.1_Silent_p.L105L	p.L89L	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	580	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	89			Helical; (Potential).		B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	c.267C>T	CCDS56390.1																																																																																				PASS	0.348	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		44	112	44	112	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171488197	171488197	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:171488197C>T	ENST00000176763.5	-	14	2501	c.2158G>A	c.(2158-2160)Gag>Aag	p.E720K		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	720					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.E720K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACAGATCTCCCGCCTGTTG	0.617																																						uc003mbo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(2158-2160)GAG>AAG		serine/threonine kinase 10							167.0	144.0	152.0					5																	171488197		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171488197C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2158G>A	5.37:g.171488197C>T	ENSP00000176763:p.Glu720Lys						p.E720K	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	2458	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	720			Potential.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2158G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591292	0.86851	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.29917	1.55	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17349	-1.0372	10	0.24483	T	0.36	.	15.7898	0.78345	0.0:1.0:0.0:0.0	.	720	O94804	STK10_HUMAN	K	720	ENSP00000176763:E720K	ENSP00000176763:E720K	E	-	1	0	STK10	171420802	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.335000	0.79234	2.299000	0.77371	0.455000	0.32223	GAG		PASS	0.617	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		42	56	42	56	---	---	---	---
DRD1	1812	broad.mit.edu	37	5	174869482	174869482	+	Silent	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr5:174869482C>A	ENST00000393752.2	-	2	1613	c.621G>T	c.(619-621)gtG>gtT	p.V207V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	207					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V207V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCATGATGGCCACAGGGATGT	0.502																																						uc003mcz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(619-621)GTG>GTT		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						162.0	154.0	156.0					5																	174869482		2203	4300	6503	SO:0001819	synonymous_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869482C>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.621G>T	5.37:g.174869482C>A							p.V207V	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1566	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	207			Helical; Name=5; (Potential).		B2RA44|Q4QRJ0	Silent	SNP	ENST00000393752.2	37	c.621G>T	CCDS4393.1																																																																																				PASS	0.502	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		64	10	64	10	---	---	---	---
FOXC1	2296	broad.mit.edu	37	6	1611183	1611183	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:1611183T>A	ENST00000380874.2	+	1	503	c.503T>A	c.(502-504)cTg>cAg	p.L168Q		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	168					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L168Q(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GGCAGCTTCCTGCGGCGGCGG	0.667																																					Pancreas(133;719 1821 3197 26645 35015)	uc003mtp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(502-504)CTG>CAG		forkhead box C1							30.0	33.0	32.0					6																	1611183		2203	4300	6503	SO:0001583	missense	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1611183T>A	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.503T>A	6.37:g.1611183T>A	ENSP00000370256:p.Leu168Gln						p.L168Q	NM_001453	NP_001444	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	503	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	168			Fork-head.		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.503T>A	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.968111	0.74131	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.95788	-3.81	3.66	3.66	0.41972	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.53938	U	0.000047	D	0.96549	0.8874	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96908	0.9665	10	0.87932	D	0	.	11.9718	0.53067	0.0:0.0:0.0:1.0	.	168	Q12948	FOXC1_HUMAN	Q	168	ENSP00000370256:L168Q	ENSP00000370256:L168Q	L	+	2	0	FOXC1	1556182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.316000	0.59178	1.291000	0.44653	0.330000	0.21533	CTG		PASS	0.667	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			49	26	49	26	---	---	---	---
CAGE1	285782	broad.mit.edu	37	6	7373571	7373571	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:7373571A>C	ENST00000512086.1	-	5	1683	c.1481T>G	c.(1480-1482)cTt>cGt	p.L494R	CAGE1_ENST00000338150.4_Missense_Mutation_p.L494R|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000379918.4_Missense_Mutation_p.L494R|CAGE1_ENST00000502583.1_Missense_Mutation_p.L494R|CAGE1_ENST00000296742.7_Missense_Mutation_p.L358R			Q8TC20	CAGE1_HUMAN	cancer antigen 1	494								p.L494R(2)|p.L358R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTCCTTTTCAAGTTTCTGGAA	0.383																																						uc003mxi.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1072-1074)CTT>CGT		cancer antigen 1							50.0	44.0	46.0					6																	7373571		1802	4070	5872	SO:0001583	missense	285782							g.chr6:7373571A>C	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1481T>G	6.37:g.7373571A>C	ENSP00000427583:p.Leu494Arg					CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.L249R|CAGE1_uc003mxk.1_Missense_Mutation_p.L249R	p.L358R	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN			4	1794	-	Ovarian(93;0.0418)		494			Potential.		D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1073T>G		.	.	.	.	.	.	.	.	.	.	A	0.004	-2.373588	0.00207	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.66	-8.24	0.01029	.	1.240360	0.05420	N	0.544022	T	0.01454	0.0047	N	0.00841	-1.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36187	-0.9758	10	0.07990	T	0.79	4.14	10.2267	0.43229	0.1203:0.6132:0.0:0.2665	.	494;494;494	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	R	494;494;494;358;494;494;494;506	ENSP00000369250:L494R;ENSP00000425493:L494R;ENSP00000296742:L358R;ENSP00000427583:L494R;ENSP00000338107:L494R;ENSP00000423789:L506R	ENSP00000296742:L358R	L	-	2	0	CAGE1	7318570	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.493000	0.06459	-1.783000	0.01274	-0.979000	0.02580	CTT		PASS	0.383	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		8	29	8	29	---	---	---	---
MCUR1	63933	broad.mit.edu	37	6	13802567	13802567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:13802567G>A	ENST00000379170.4	-	3	685	c.547C>T	c.(547-549)Caa>Taa	p.Q183*		NM_001031713.3	NP_001026883.1	Q96AQ8	MCUR1_HUMAN	mitochondrial calcium uniporter regulator 1	183					calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	integral component of mitochondrial inner membrane (GO:0031305)		p.Q183*(1)									TCTGCTTGTTGAGTAGCAAAC	0.438																																						uc003nbd.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(547-549)CAA>TAA		coiled-coil domain containing 90A precursor							159.0	125.0	136.0					6																	13802567		2203	4300	6503	SO:0001587	stop_gained	63933					integral to membrane|mitochondrion		g.chr6:13802567G>A	BC016850	CCDS35495.1	6p23	2013-03-13	2013-03-13	2013-03-13	ENSG00000050393	ENSG00000050393			21097	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 79"", ""coiled-coil domain containing 90A"""	C6orf79, CCDC90A		23178883	Standard	NM_001031713		Approved	FLJ20958	uc003nbc.2	Q96AQ8	OTTHUMG00000014279	ENST00000379170.4:c.547C>T	6.37:g.13802567G>A	ENSP00000368468:p.Gln183*					CCDC90A_uc010jpf.2_RNA	p.Q183*	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN			3	675	-	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)	183					Q96JS7|Q9H7F8	Nonsense_Mutation	SNP	ENST00000379170.4	37	c.547C>T	CCDS35495.1	.	.	.	.	.	.	.	.	.	.	G	37	6.332140	0.97480	.	.	ENSG00000050393	ENST00000379170	.	.	.	5.6	5.6	0.85130	.	0.103897	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-7.9929	14.0528	0.64749	0.0:0.1513:0.8487:0.0	.	.	.	.	X	183	.	ENSP00000368468:Q183X	Q	-	1	0	CCDC90A	13910546	1.000000	0.71417	0.973000	0.42090	0.829000	0.46940	4.104000	0.57790	2.631000	0.89168	0.585000	0.79938	CAA		PASS	0.438	MCUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039909.3	NM_022102		22	84	22	84	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28543271	28543271	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:28543271G>T	ENST00000452236.2	-	3	1828	c.1211C>A	c.(1210-1212)aCt>aAt	p.T404N	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.T404N(1)		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						CCGCAAAAAAGTTAACTTTGT	0.368																																						uc003nlo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1210-1212)ACT>AAT		SCAN domain containing 3							50.0	53.0	52.0					6																	28543271		2201	4300	6501	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543271G>T																												ENST00000452236.2:c.1211C>A	6.37:g.28543271G>T	ENSP00000395259:p.Thr404Asn						p.T404N	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	1829	-			404			Integrase catalytic.			Missense_Mutation	SNP	ENST00000452236.2	37	c.1211C>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	8.290	0.817540	0.16607	.	.	ENSG00000232040	ENST00000452236	T	0.45668	0.89	3.45	1.65	0.23941	Integrase, catalytic core (2);Ribonuclease H-like (1);	0.221871	0.26765	N	0.022601	T	0.06690	0.0171	N	0.08118	0	0.20307	N	0.999917	B	0.13594	0.008	B	0.14578	0.011	T	0.24870	-1.0148	10	0.56958	D	0.05	.	2.1593	0.03820	0.2015:0.4859:0.1984:0.1142	.	404	Q6R2W3	SCND3_HUMAN	N	404	ENSP00000395259:T404N	ENSP00000395259:T404N	T	-	2	0	SCAND3	28651250	0.776000	0.28616	0.968000	0.41197	0.948000	0.59901	-0.228000	0.09114	0.290000	0.22444	-0.128000	0.14901	ACT		PASS	0.368	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			12	55	12	55	---	---	---	---
ZNF311	282890	broad.mit.edu	37	6	28963923	28963923	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:28963923T>C	ENST00000377179.3	-	7	1368	c.856A>G	c.(856-858)Acc>Gcc	p.T286A	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	286					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.T286A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGATTTCTGGTCTTGAATGCT	0.438																																						uc003nlu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)ACC>GCC		zinc finger protein 311							77.0	86.0	83.0					6																	28963923		1510	2708	4218	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963923T>C	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.856A>G	6.37:g.28963923T>C	ENSP00000366384:p.Thr286Ala					ZNF311_uc011dlk.1_Missense_Mutation_p.T194A|ZNF311_uc003nlv.2_Missense_Mutation_p.T194A	p.T286A	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN			7	1369	-			286			C2H2-type 2.		A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.856A>G	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	T	9.174	1.021974	0.19433	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.22539	1.95	2.89	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06781	0.0173	L	0.51422	1.61	0.09310	N	1	B	0.25850	0.136	B	0.23716	0.048	T	0.30736	-0.9968	9	0.14252	T	0.57	-3.1419	9.5465	0.39284	0.0:0.0:0.0:1.0	.	286	Q5JNZ3	ZN311_HUMAN	A	286;194	ENSP00000366384:T286A	ENSP00000366384:T286A	T	-	1	0	ZNF311	29071902	0.000000	0.05858	0.940000	0.37924	0.960000	0.62799	-2.636000	0.00867	1.563000	0.49615	0.397000	0.26171	ACC		PASS	0.438	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		11	62	11	62	---	---	---	---
HLA-E	3133	broad.mit.edu	37	6	30459173	30459173	+	Silent	SNP	C	C	T	rs370435793		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:30459173C>T	ENST00000376630.4	+	4	935	c.870C>T	c.(868-870)ccC>ccT	p.P290P		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	290	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)	p.P290P(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TACCCGAGCCCGTCACCCTGA	0.617																																						uc003nqg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(1)	5						c.(868-870)CCC>CCT		major histocompatibility complex, class I, E		C		1,3021		0,1,1510	81.0	77.0	78.0		870	-0.4	0.6	6		78	0,5418		0,0,2709	no	coding-synonymous	HLA-E	NM_005516.5		0,1,4219	TT,TC,CC		0.0,0.0331,0.0118		290/359	30459173	1,8439	1511	2709	4220	SO:0001819	synonymous_variant	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30459173C>T	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.870C>T	6.37:g.30459173C>T						HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Silent_p.P331P	p.P290P	NM_005516	NP_005507	P13747	HLAE_HUMAN			4	908	+			290			Ig-like C1-type.|Alpha-3.|Extracellular (Potential).		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	c.870C>T	CCDS34379.1																																																																																				PASS	0.617	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		12	74	12	74	---	---	---	---
FGD2	221472	broad.mit.edu	37	6	36976741	36976741	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:36976741C>G	ENST00000274963.8	+	2	371	c.200C>G	c.(199-201)aCa>aGa	p.T67R		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	67					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.T67R(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GAGCCCAGGACAGTCAGCAGG	0.627																																						uc010jwp.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						c.(199-201)ACA>AGA		FYVE, RhoGEF and PH domain containing 2							69.0	68.0	68.0					6																	36976741		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36976741C>G	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.200C>G	6.37:g.36976741C>G	ENSP00000274963:p.Thr67Arg					FGD2_uc003onf.2_Missense_Mutation_p.T67R|FGD2_uc011dtu.1_Missense_Mutation_p.T67R|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR	p.T67R	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN			2	371	+			67					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.200C>G	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603874	0.66445	.	.	ENSG00000146192	ENST00000274963	T	0.57907	0.37	5.19	3.36	0.38483	Dbl homology (DH) domain (1);	0.616553	0.14444	N	0.319234	T	0.18087	0.0434	L	0.27053	0.805	0.23003	N	0.998446	P;B;P	0.44044	0.825;0.099;0.688	B;B;B	0.43103	0.408;0.034;0.332	T	0.06789	-1.0807	10	0.16896	T	0.51	2.112	6.4348	0.21817	0.1794:0.727:0.0:0.0936	.	67;67;67	B4DV77;Q7Z6J4;F8WEZ2	.;FGD2_HUMAN;.	R	67	ENSP00000274963:T67R	ENSP00000274963:T67R	T	+	2	0	FGD2	37084719	0.001000	0.12720	0.763000	0.31416	0.990000	0.78478	-0.146000	0.10250	0.537000	0.28751	0.561000	0.74099	ACA		PASS	0.627	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		15	62	15	62	---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42603239	42603239	+	Silent	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:42603239A>G	ENST00000372899.1	+	14	1887	c.1629A>G	c.(1627-1629)aaA>aaG	p.K543K	UBR2_ENST00000372901.1_Silent_p.K543K|UBR2_ENST00000372883.3_Silent_p.K47K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	543					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K543K(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACAAATGAAATTAACACATG	0.433																																						uc011dur.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1627-1629)AAA>AAG		ubiquitin protein ligase E3 component n-recognin							121.0	114.0	116.0					6																	42603239		2203	4300	6503	SO:0001819	synonymous_variant	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42603239A>G	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1629A>G	6.37:g.42603239A>G						UBR2_uc011dus.1_Silent_p.K188K|UBR2_uc010jxv.1_Silent_p.K47K|UBR2_uc003osh.2_RNA	p.K543K	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		14	1629	+	Colorectal(47;0.196)		543					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	c.1629A>G	CCDS4870.1																																																																																				PASS	0.433	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		12	60	12	60	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42796618	42796618	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:42796618G>T	ENST00000314073.5	+	6	723	c.547G>T	c.(547-549)Ggt>Tgt	p.G183C	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.G183C			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	183								p.G183C(1)									CAATACAGTGGGTGTACAACA	0.453																																						uc003osn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(547-549)GGT>TGT		hypothetical protein LOC23506							168.0	152.0	157.0					6																	42796618		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42796618G>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.547G>T	6.37:g.42796618G>T	ENSP00000313933:p.Gly183Cys					KIAA0240_uc003osm.1_Missense_Mutation_p.G183C|KIAA0240_uc011duw.1_Missense_Mutation_p.G183C|KIAA0240_uc003oso.1_Missense_Mutation_p.G183C|KIAA0240_uc003osp.1_Missense_Mutation_p.G183C	p.G183C	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		6	698	+	Colorectal(47;0.196)		183					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.547G>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352742	0.61293	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.37752	1.18;1.18	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.50429	0.1615	L	0.51422	1.61	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.49457	-0.8938	10	0.66056	D	0.02	-15.718	19.7507	0.96267	0.0:0.0:1.0:0.0	.	183;183;183	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	C	183	ENSP00000313933:G183C;ENSP00000377723:G183C	ENSP00000313933:G183C	G	+	1	0	KIAA0240	42904596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.918000	0.56432	2.722000	0.93159	0.655000	0.94253	GGT		PASS	0.453	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		6	104	6	104	---	---	---	---
MEA1	4201	broad.mit.edu	37	6	42981026	42981026	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:42981026C>G	ENST00000244711.3	-	2	284	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q	KLHDC3_ENST00000244670.8_5'Flank|KLHDC3_ENST00000326974.4_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	44					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)		p.E44Q(1)		central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGTGCCTTCTGAAGGGCCC	0.602																																						uc003otk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(130-132)GAA>CAA		male-enhanced antigen							106.0	110.0	108.0					6																	42981026		2203	4300	6503	SO:0001583	missense	4201				cell differentiation|male gonad development|spermatogenesis		protein binding	g.chr6:42981026C>G		CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"""male-enhanced antigen"""	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.130G>C	6.37:g.42981026C>G	ENSP00000244711:p.Glu44Gln					MEA1_uc010jyc.1_Missense_Mutation_p.E31Q|KLHDC3_uc003otl.2_5'Flank|KLHDC3_uc003otm.2_5'Flank|KLHDC3_uc010jyf.2_5'Flank|KLHDC3_uc003otn.2_5'Flank	p.E44Q	NM_014623	NP_055438	Q16626	MEA1_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		2	197	-			44					Q5TC36|Q9BV01	Missense_Mutation	SNP	ENST00000244711.3	37	c.130G>C	CCDS4879.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157178	0.78114	.	.	ENSG00000124733	ENST00000244711	T	0.55413	0.52	5.92	4.1	0.47936	.	0.050892	0.85682	D	0.000000	T	0.31104	0.0786	N	0.19112	0.55	0.35693	D	0.815031	P	0.49185	0.92	P	0.51055	0.657	T	0.13415	-1.0510	10	0.32370	T	0.25	-18.7623	10.9896	0.47541	0.0:0.7999:0.129:0.0711	.	44	Q16626	MEA1_HUMAN	Q	44	ENSP00000244711:E44Q	ENSP00000244711:E44Q	E	-	1	0	MEA1	43089004	0.996000	0.38824	0.913000	0.36048	0.994000	0.84299	3.160000	0.50739	1.517000	0.48917	0.585000	0.79938	GAA		PASS	0.602	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040574.2			38	88	38	88	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51900450	51900450	+	Missense_Mutation	SNP	G	G	C	rs569527505		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:51900450G>C	ENST00000371117.3	-	28	3442	c.3167C>G	c.(3166-3168)tCg>tGg	p.S1056W	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1056W	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1056	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.S1056W(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATGGCACACGAGTAAGATCC	0.448																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(3166-3168)TCG>TGG		fibrocystin isoform 1							140.0	128.0	132.0					6																	51900450		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51900450G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3167C>G	6.37:g.51900450G>C	ENSP00000360158:p.Ser1056Trp					PKHD1_uc003pai.2_Missense_Mutation_p.S1056W	p.S1056W	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			28	3443	-	Lung NSC(77;0.0605)		1056			IPT/TIG 5.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3167C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528587	0.44969	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.77489	-1.1;-1.1	5.69	4.82	0.62117	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.303220	0.32563	N	0.005925	T	0.81814	0.4902	L	0.60455	1.87	0.45150	D	0.998167	D;D	0.89917	0.999;1.0	D;D	0.75484	0.977;0.986	D	0.84642	0.0696	10	0.72032	D	0.01	.	14.0155	0.64521	0.0727:0.0:0.9273:0.0	.	1056;1056	P08F94-2;P08F94	.;PKHD1_HUMAN	W	1056	ENSP00000360158:S1056W;ENSP00000341097:S1056W	ENSP00000341097:S1056W	S	-	2	0	PKHD1	52008409	0.870000	0.30015	0.974000	0.42286	0.132000	0.20833	1.812000	0.38952	1.416000	0.47057	0.650000	0.86243	TCG		PASS	0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		21	87	21	87	---	---	---	---
KLHL31	401265	broad.mit.edu	37	6	53517046	53517046	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:53517046C>G	ENST00000407079.1	-	2	1254	c.1255G>C	c.(1255-1257)Ggg>Cgg	p.G419R	KLHL31_ENST00000370905.3_Missense_Mutation_p.G419R			Q9H511	KLH31_HUMAN	kelch-like family member 31	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.G419R(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TACACGAGCCCGTTGAACACG	0.612																																						uc003pcb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1255-1257)GGG>CGG		kelch repeat and BTB (POZ) domain containing 1							63.0	66.0	65.0					6																	53517046		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53517046C>G		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1255G>C	6.37:g.53517046C>G	ENSP00000384644:p.Gly419Arg					uc003pcc.1_Silent_p.P146P	p.G419R	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN			3	1396	-	Lung NSC(77;0.0158)		419			Kelch 2.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.1255G>C	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966948	0.92855	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	D;D	0.82344	-1.6;-1.6	5.69	5.69	0.88448	Galactose oxidase, beta-propeller (1);	0.044008	0.85682	N	0.000000	D	0.91710	0.7379	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92215	0.5779	10	0.87932	D	0	.	19.8275	0.96624	0.0:1.0:0.0:0.0	.	419	Q9H511	KLH31_HUMAN	R	419	ENSP00000359942:G419R;ENSP00000384644:G419R	ENSP00000359942:G419R	G	-	1	0	KLHL31	53625005	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.806000	0.86020	2.684000	0.91462	0.650000	0.86243	GGG		PASS	0.612	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		19	62	19	62	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75899527	75899527	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:75899527G>C	ENST00000322507.8	-	6	708	c.399C>G	c.(397-399)tgC>tgG	p.C133W	COL12A1_ENST00000483888.2_Missense_Mutation_p.C133W|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.C133W	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	133					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.C133W(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CACTGACAGAGCATTCTGAAA	0.348																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(397-399)TGC>TGG		collagen, type XII, alpha 1 long isoform							65.0	63.0	64.0					6																	75899527		1883	4121	6004	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75899527G>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.399C>G	6.37:g.75899527G>C	ENSP00000325146:p.Cys133Trp					COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'Flank	p.C133W	NM_004370	NP_004361	Q99715	COCA1_HUMAN			6	565	-			133					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.399C>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.451019	0.43531	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.78707	-1.2;-1.2;-1.2	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80603	-0.1309	10	0.87932	D	0	.	11.8272	0.52273	0.1397:0.0:0.8603:0.0	.	133	Q99715	COCA1_HUMAN	W	133	ENSP00000325146:C133W;ENSP00000412864:C133W;ENSP00000421216:C133W	ENSP00000325146:C133W	C	-	3	2	COL12A1	75956247	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.414000	0.34736	1.449000	0.47699	0.655000	0.94253	TGC		PASS	0.348	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		5	58	5	58	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90382276	90382276	+	Silent	SNP	T	T	C	rs372161706		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:90382276T>C	ENST00000369393.3	-	81	13735	c.13620A>G	c.(13618-13620)caA>caG	p.Q4540Q	MDN1_ENST00000468568.1_5'UTR|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Silent_p.Q4540Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4540					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.Q4540Q(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATAATCTTCTTGTGGGCTTG	0.373																																						uc003pnn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)	10						c.(13618-13620)CAA>CAG		MDN1, midasin homolog		T		0,4406		0,0,2203	113.0	116.0	115.0		13620	-2.3	0.0	6		115	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	MDN1	NM_014611.1		0,1,6501	CC,CT,TT		0.0116,0.0,0.0077		4540/5597	90382276	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90382276T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13620A>G	6.37:g.90382276T>C							p.Q4540Q	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	81	13736	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4540					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.13620A>G	CCDS5024.1																																																																																				PASS	0.373	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	49	3	49	---	---	---	---
RTN4IP1	84816	broad.mit.edu	37	6	107035607	107035607	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:107035607T>A	ENST00000369063.3	-	7	1402	c.937A>T	c.(937-939)Ata>Tta	p.I313L	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	313						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.I313L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		CCATCTGCTATGCCCAATCGG	0.502																																						uc003prj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(937-939)ATA>TTA		reticulon 4 interacting protein 1 precursor							137.0	125.0	129.0					6																	107035607		2203	4300	6503	SO:0001583	missense	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107035607T>A	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.937A>T	6.37:g.107035607T>A	ENSP00000358059:p.Ile313Leu					RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.I213L	p.I313L	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	7	1414	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	313					Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	c.937A>T	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	T	0.038	-1.297035	0.01364	.	.	ENSG00000130347	ENST00000369063	T	0.39787	1.06	6.16	-5.12	0.02893	.	0.539497	0.21428	N	0.074706	T	0.05364	0.0142	N	0.04355	-0.22	0.58432	D	0.999998	B	0.02656	0.0	B	0.08055	0.003	T	0.23904	-1.0175	10	0.11485	T	0.65	-13.3957	9.9523	0.41647	0.0:0.4783:0.1032:0.4185	.	313	Q8WWV3	RT4I1_HUMAN	L	313	ENSP00000358059:I313L	ENSP00000358059:I313L	I	-	1	0	RTN4IP1	107142300	0.028000	0.19301	0.773000	0.31616	0.152000	0.21847	-0.057000	0.11768	-0.612000	0.05701	-2.635000	0.00153	ATA		PASS	0.502	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			47	39	47	39	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118635213	118635213	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:118635213C>G	ENST00000360388.4	+	8	1226	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	342					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.S342C(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TATCTCCTGTCTTTCTTCACC	0.473																																						uc003pxx.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1024-1026)TCT>TGT		solute carrier family 35, member F1							176.0	151.0	160.0					6																	118635213		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118635213C>G	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1025C>G	6.37:g.118635213C>G	ENSP00000353557:p.Ser342Cys					SLC35F1_uc003pxy.1_Missense_Mutation_p.S147C	p.S342C	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1226	+			342			Helical; (Potential).		E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.1025C>G	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219006	0.79464	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	M	0.62209	1.925	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.73414	-0.3990	9	0.52906	T	0.07	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	342	Q5T1Q4	S35F1_HUMAN	C	342	.	ENSP00000353557:S342C	S	+	2	0	SLC35F1	118741906	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	6.683000	0.74533	2.707000	0.92482	0.655000	0.94253	TCT		PASS	0.473	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		22	44	22	44	---	---	---	---
TAAR2	9287	broad.mit.edu	37	6	132938493	132938493	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:132938493C>A	ENST00000367931.1	-	2	851	c.852G>T	c.(850-852)ttG>ttT	p.L284F	TAAR2_ENST00000275191.2_Missense_Mutation_p.L239F|TAAR2_ENST00000537809.1_Missense_Mutation_p.L239F			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	284					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.L284F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AAAAGGGATCCAATAAAATTG	0.328																																						uc003qdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)TTG>TTT		trace amine associated receptor 2 isoform 1							65.0	57.0	60.0					6																	132938493		2203	4300	6503	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132938493C>A	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.852G>T	6.37:g.132938493C>A	ENSP00000356908:p.Leu284Phe					TAAR2_uc010kfr.1_Missense_Mutation_p.L239F	p.L284F	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	852	-	Breast(56;0.135)		284			Helical; Name=6; (Potential).		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.852G>T	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940853	0.52972	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.39406	1.08;1.08;1.08	6.1	0.84	0.18912	GPCR, rhodopsin-like superfamily (1);	0.174671	0.34750	N	0.003719	T	0.35098	0.0920	L	0.53729	1.69	0.35560	D	0.804605	D	0.67145	0.996	D	0.71414	0.973	T	0.37934	-0.9684	10	0.72032	D	0.01	-13.0229	1.2427	0.01966	0.22:0.3837:0.0961:0.3003	.	284	Q9P1P5	TAAR2_HUMAN	F	239;284;239	ENSP00000275191:L239F;ENSP00000356908:L284F;ENSP00000441263:L239F	ENSP00000275191:L239F	L	-	3	2	TAAR2	132980186	0.037000	0.19845	0.985000	0.45067	0.994000	0.84299	-0.291000	0.08343	0.458000	0.26988	0.650000	0.86243	TTG		PASS	0.328	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		4	40	4	40	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157527589	157527589	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:157527589G>A	ENST00000350026.5	+	19	5276	c.5275G>A	c.(5275-5277)Gca>Aca	p.A1759T	ARID1B_ENST00000346085.5_Missense_Mutation_p.A1772T|ARID1B_ENST00000275248.4_Missense_Mutation_p.A1754T|ARID1B_ENST00000367148.1_Missense_Mutation_p.A1812T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1759					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.A1754T(1)|p.A1772T(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGACGCCGCTGCAGACCCAAA	0.507																																						uc003qqn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(5260-5262)GCA>ACA		AT rich interactive domain 1B (SWI1-like)							58.0	59.0	59.0					6																	157527589		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157527589G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5275G>A	6.37:g.157527589G>A	ENSP00000055163:p.Ala1759Thr					ARID1B_uc003qqo.2_Missense_Mutation_p.A1714T|ARID1B_uc003qqp.2_Missense_Mutation_p.A1701T	p.A1754T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5412	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1759					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5260G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	7.330	0.618740	0.14129	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02197	4.73;4.73;4.72;4.73;4.4	5.16	1.3	0.21679	.	0.744332	0.13041	N	0.418557	T	0.00440	0.0014	N	0.16656	0.425	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.46261	-0.9204	10	0.28530	T	0.3	.	2.2081	0.03941	0.2151:0.1329:0.5143:0.1377	.	1759;1772;1754	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	T	1772;1759;1812;1754;1281	ENSP00000344546:A1772T;ENSP00000055163:A1759T;ENSP00000356116:A1812T;ENSP00000275248:A1754T;ENSP00000412835:A1281T	ENSP00000275248:A1754T	A	+	1	0	ARID1B	157569281	0.001000	0.12720	0.000000	0.03702	0.819000	0.46315	0.850000	0.27737	-0.048000	0.13401	0.467000	0.42956	GCA		PASS	0.507	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		20	47	20	47	---	---	---	---
SNX9	51429	broad.mit.edu	37	6	158357063	158357063	+	Silent	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:158357063G>T	ENST00000392185.3	+	14	1605	c.1434G>T	c.(1432-1434)gtG>gtT	p.V478V	RNU6-786P_ENST00000516849.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	478	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.V478V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CCAGTCTCGTGGCAGAACAGG	0.348																																						uc003qqv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1432-1434)GTG>GTT		sorting nexin 9							73.0	67.0	69.0					6																	158357063		2203	4300	6503	SO:0001819	synonymous_variant	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158357063G>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1434G>T	6.37:g.158357063G>T							p.V478V	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	14	1607	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	478			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Silent	SNP	ENST00000392185.3	37	c.1434G>T	CCDS5253.1																																																																																				PASS	0.348	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			7	25	7	25	---	---	---	---
RSPH3	83861	broad.mit.edu	37	6	159414882	159414882	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:159414882T>A	ENST00000252655.1	-	2	808	c.619A>T	c.(619-621)Aca>Tca	p.T207S	RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_Missense_Mutation_p.T65S|RSPH3_ENST00000297262.3_Missense_Mutation_p.T207S|RSPH3_ENST00000367069.2_Missense_Mutation_p.T65S	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	207								p.T207S(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGTGGCCCTGTCTGGAGTGCA	0.383																																						uc003qrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(619-621)ACA>TCA		radial spoke 3 homolog							212.0	168.0	183.0					6																	159414882		2203	4300	6503	SO:0001583	missense	83861							g.chr6:159414882T>A	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.619A>T	6.37:g.159414882T>A	ENSP00000252655:p.Thr207Ser					RSPH3_uc010kju.2_Missense_Mutation_p.T207S|RSPH3_uc003qry.1_Missense_Mutation_p.T207S	p.T207S	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	2	809	-		Breast(66;0.00519)|Ovarian(120;0.123)	207					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.619A>T	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.884372	0.33255	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.16324	2.35;2.6;2.35;2.58	5.37	2.77	0.32553	.	0.349225	0.28706	N	0.014407	T	0.02848	0.0085	N	0.21545	0.675	0.09310	N	1	B;B	0.28419	0.211;0.134	B;B	0.25759	0.04;0.063	T	0.43393	-0.9394	10	0.11182	T	0.66	-4.6133	9.5554	0.39334	0.277:0.0:0.0:0.723	.	207;207	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	S	65;65;207;207	ENSP00000356036:T65S;ENSP00000393195:T65S;ENSP00000252655:T207S;ENSP00000297262:T207S	ENSP00000252655:T207S	T	-	1	0	RSPH3	159334870	0.001000	0.12720	0.010000	0.14722	0.334000	0.28698	0.036000	0.13819	0.954000	0.37851	0.533000	0.62120	ACA		PASS	0.383	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		33	17	33	17	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	161990421	161990421	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr6:161990421T>C	ENST00000366898.1	-	8	1001	c.899A>G	c.(898-900)gAg>gGg	p.E300G	PARK2_ENST00000338468.3_Missense_Mutation_p.E109G|PARK2_ENST00000366892.1_Missense_Mutation_p.E300G|PARK2_ENST00000366897.1_Missense_Mutation_p.E272G|PARK2_ENST00000366896.1_Missense_Mutation_p.E151G|PARK2_ENST00000366894.1_Missense_Mutation_p.E109G	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	300					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.E300G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTGATGGAGCTCTTTAATCAA	0.428																																						uc003qtx.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(898-900)GAG>GGG		parkin isoform 1							118.0	113.0	114.0					6																	161990421		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161990421T>C		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.899A>G	6.37:g.161990421T>C	ENSP00000355865:p.Glu300Gly					PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.E109G|PARK2_uc003qtw.3_Missense_Mutation_p.E109G|PARK2_uc003qty.3_Missense_Mutation_p.E272G|PARK2_uc003qtz.3_Missense_Mutation_p.E151G|PARK2_uc010kke.1_Missense_Mutation_p.E319G|PARK2_uc011egf.1_5'UTR	p.E300G	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	8	1033	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	300					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.899A>G	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.963790	0.74131	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	M	0.69248	2.105	0.48087	D	0.999588	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.979;0.972;0.972;0.948	D	0.93067	0.6479	10	0.48119	T	0.1	.	13.4713	0.61283	0.0:0.0:0.0:1.0	.	319;151;272;300;109	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	G	300;272;151;109;109;109;300	ENSP00000355865:E300G;ENSP00000355863:E272G;ENSP00000355862:E151G;ENSP00000355860:E109G;ENSP00000343589:E109G;ENSP00000355858:E300G	ENSP00000343589:E109G	E	-	2	0	PARK2	161910411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.241000	0.65384	1.930000	0.55929	0.523000	0.50628	GAG		PASS	0.428	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			14	25	14	25	---	---	---	---
TMEM106B	54664	broad.mit.edu	37	7	12254526	12254526	+	Silent	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr7:12254526G>T	ENST00000396667.3	+	3	412	c.90G>T	c.(88-90)ctG>ctT	p.L30L	TMEM106B_ENST00000453686.1_3'UTR|TMEM106B_ENST00000396668.3_Silent_p.L30L	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	30					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.L30L(1)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		GGAATGGACTGGTTAATAGTG	0.388																																						uc011jxk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(88-90)CTG>CTT		transmembrane protein 106B							111.0	102.0	105.0					7																	12254526		2203	4300	6503	SO:0001819	synonymous_variant	54664					integral to membrane		g.chr7:12254526G>T	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.90G>T	7.37:g.12254526G>T						TMEM106B_uc003ssh.2_Silent_p.L30L	p.L30L	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	3	490	+			30					A4D108|Q53FL9|Q8N4L0	Silent	SNP	ENST00000396667.3	37	c.90G>T	CCDS5358.1																																																																																				PASS	0.388	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		4	41	4	41	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33380528	33380529	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr7:33380528_33380529GA>AG	ENST00000242067.6	+	11	1739_1740	c.1218_1219GA>AG	c.(1216-1221)gaGAga>gaAGga	p.R407G	BBS9_ENST00000350941.3_Missense_Mutation_p.R407G|BBS9_ENST00000354265.4_Missense_Mutation_p.R407G|BBS9_ENST00000355070.2_Missense_Mutation_p.R407G|BBS9_ENST00000396127.2_Missense_Mutation_p.R407G	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	407					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R407G(4)|p.E406E(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CCATGACTGAGAGAGAAGATGA	0.312									Bardet-Biedl syndrome																													uc003tdn.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1216-1218)GAG>GAA|c.(1219-1221)AGA>GGA		parathyroid hormone-responsive B1 isoform 2																																				SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33380528G>A|g.chr7:33380529A>G		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	Exception_encountered	7.37:g.33380528_33380529delinsAG	ENSP00000242067:p.Arg407Gly					BBS9_uc003tdo.1_Silent_p.E406E|BBS9_uc003tdp.1_Silent_p.E406E|BBS9_uc003tdq.1_Silent_p.E406E|BBS9_uc010kwn.1_RNA|BBS9_uc011kao.1_Silent_p.E284E|BBS9_uc003tdo.1_Missense_Mutation_p.R407G|BBS9_uc003tdp.1_Missense_Mutation_p.R407G|BBS9_uc003tdq.1_Missense_Mutation_p.R407G|BBS9_uc010kwn.1_RNA|BBS9_uc011kao.1_Missense_Mutation_p.R285G	p.E406E|p.R407G	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		11	1731|1732	+			406|407					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent|Missense_Mutation	SNP	ENST00000242067.6	37	c.1218G>A|c.1219A>G	CCDS43566.1																																																																																				PASS	0.312	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			3	24	3	24	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43485093	43485093	+	Silent	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr7:43485093C>A	ENST00000395891.2	+	11	2927	c.2322C>A	c.(2320-2322)gcC>gcA	p.A774A	HECW1_ENST00000453890.1_Silent_p.A774A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	774					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A753A(1)|p.A774A(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACGAGCTGGCCGCCCCTAGCG	0.632																																						uc003tid.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2320-2322)GCC>GCA		NEDD4-like ubiquitin-protein ligase 1							17.0	20.0	19.0					7																	43485093		1948	4113	6061	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43485093C>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2322C>A	7.37:g.43485093C>A						HECW1_uc011kbi.1_Silent_p.A774A	p.A774A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2927	+			774					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.2322C>A	CCDS5469.2																																																																																				PASS	0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		6	3	6	3	---	---	---	---
DDC	1644	broad.mit.edu	37	7	50537776	50537776	+	Missense_Mutation	SNP	G	G	T	rs201783949	byFrequency	TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr7:50537776G>T	ENST00000444124.2	-	12	1335	c.1135C>A	c.(1135-1137)Cgc>Agc	p.R379S	DDC_ENST00000431062.1_Missense_Mutation_p.R286S|DDC_ENST00000426377.1_Missense_Mutation_p.R301S|DDC_ENST00000357936.5_Missense_Mutation_p.R379S	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	379					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.R379S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GTCACCTTGCGGATATAAGCC	0.343																																						uc003tpf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1135-1137)CGC>AGC		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						101.0	100.0	101.0					7																	50537776		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50537776G>T		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1135C>A	7.37:g.50537776G>T	ENSP00000403644:p.Arg379Ser					DDC_uc010kza.2_Missense_Mutation_p.R294S|DDC_uc003tpg.3_Missense_Mutation_p.R379S	p.R379S	NM_000790	NP_000781	P20711	DDC_HUMAN			12	1221	-	Glioma(55;0.08)|all_neural(89;0.245)		379					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.1135C>A	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354653	0.82243	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.64	5.64	0.86602	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048785	0.85682	D	0.000000	T	0.74122	0.3675	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80013	-0.1560	10	0.87932	D	0	-20.9758	18.8473	0.92212	0.0:0.0:1.0:0.0	.	379;379	Q53Y41;P20711	.;DDC_HUMAN	S	379;286;301;379	ENSP00000350616:R379S;ENSP00000399184:R286S;ENSP00000395069:R301S;ENSP00000403644:R379S	ENSP00000350616:R379S	R	-	1	0	DDC	50505270	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.635000	0.67841	2.820000	0.97059	0.650000	0.86243	CGC		PASS	0.343	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			31	55	31	55	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86468590	86468590	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr7:86468590G>T	ENST00000361669.2	+	4	2859	c.1760G>T	c.(1759-1761)gGt>gTt	p.G587V	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G459V|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.G179V	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	587					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.G587V(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GCCTGTCTGGGTTTTATGTGT	0.493																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(1759-1761)GGT>GTT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						129.0	115.0	120.0					7																	86468590		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468590G>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1760G>T	7.37:g.86468590G>T	ENSP00000355316:p.Gly587Val					GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.G459V|GRM3_uc010leh.2_Missense_Mutation_p.G179V	p.G587V	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	2859	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		587			Helical; Name=1; (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1760G>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043547	0.75732	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.91464	-2.85;-2.85;-2.85	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96587	0.9435	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	179;459;587	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	V	587;179;459	ENSP00000355316:G587V;ENSP00000444064:G179V;ENSP00000441407:G459V	ENSP00000355316:G587V	G	+	2	0	GRM3	86306526	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGT		PASS	0.493	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			8	23	8	23	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117431717	117431717	+	Silent	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr7:117431717T>C	ENST00000160373.3	-	4	1624	c.1533A>G	c.(1531-1533)ggA>ggG	p.G511G	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	511	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.G511G(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTGGGGGCACTCCAGGCCTTG	0.537																																						uc003vjf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1531-1533)GGA>GGG		cortactin binding protein 2							131.0	127.0	128.0					7																	117431717		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117431717T>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1533A>G	7.37:g.117431717T>C							p.G511G	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1625	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		511			Pro-rich.		O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.1533A>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	3.110	-0.182944	0.06340	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.6	1.9	0.25705	.	.	.	.	.	T	0.56775	0.2008	.	.	.	0.37182	D	0.90352	.	.	.	.	.	.	T	0.55444	-0.8140	4	.	.	.	-12.0475	9.354	0.38155	0.0:0.3719:0.0:0.6281	.	.	.	.	G	40	.	.	S	-	1	0	CTTNBP2	117218953	0.039000	0.19947	0.473000	0.27253	0.714000	0.41099	0.590000	0.23954	0.144000	0.18951	0.460000	0.39030	AGT		PASS	0.537	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		32	35	32	35	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121650911	121650911	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr7:121650911C>T	ENST00000393386.2	+	12	2222	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S604F	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	604					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S604F(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAGAACATATCCCAAGGGTAT	0.413																																						uc003vjy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(1810-1812)TCC>TTC		protein tyrosine phosphatase, receptor-type,							43.0	45.0	44.0					7																	121650911		2202	4300	6502	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121650911C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1811C>T	7.37:g.121650911C>T	ENSP00000377047:p.Ser604Phe					PTPRZ1_uc003vjz.2_Missense_Mutation_p.S604F|PTPRZ1_uc011knt.1_Missense_Mutation_p.S54F	p.S604F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	2206	+			604			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1811C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834629	0.32421	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.52526	0.8;0.66	5.44	4.56	0.56223	.	0.336163	0.29424	N	0.012184	T	0.52885	0.1762	M	0.66939	2.045	0.22842	N	0.998665	B;B;P	0.43169	0.0;0.0;0.8	B;B;P	0.45037	0.001;0.001;0.467	T	0.53208	-0.8471	10	0.87932	D	0	.	13.8136	0.63278	0.0:0.926:0.0:0.074	.	604;604;604	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	F	604	ENSP00000377047:S604F;ENSP00000410000:S604F	ENSP00000377047:S604F	S	+	2	0	PTPRZ1	121438147	0.083000	0.21467	0.041000	0.18516	0.707000	0.40811	3.106000	0.50322	1.304000	0.44892	0.655000	0.94253	TCC		PASS	0.413	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		21	3	21	3	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121674395	121674395	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr7:121674395C>A	ENST00000393386.2	+	17	5658	c.5247C>A	c.(5245-5247)gaC>gaA	p.D1749E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D882E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1749	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1749E(1)|p.N1749K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACCACCCAGACAACAAGCACA	0.353																																						uc003vjy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(5245-5247)GAC>GAA		protein tyrosine phosphatase, receptor-type,							73.0	63.0	67.0					7																	121674395		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121674395C>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5247C>A	7.37:g.121674395C>A	ENSP00000377047:p.Asp1749Glu					PTPRZ1_uc003vjz.2_Missense_Mutation_p.D882E|PTPRZ1_uc011knt.1_Missense_Mutation_p.D339E	p.D1749E	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			17	5642	+			1749			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5247C>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055129	0.36277	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.10960	2.82;2.82	5.14	3.32	0.38043	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.64402	D	0.000001	T	0.06917	0.0176	N	0.02736	-0.51	0.48830	D	0.999718	P;B;B	0.51537	0.946;0.08;0.074	P;B;B	0.49683	0.619;0.07;0.037	T	0.47459	-0.9116	10	0.29301	T	0.29	.	11.4407	0.50094	0.0:0.8523:0.0:0.1477	.	888;882;1749	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	E	1749;882	ENSP00000377047:D1749E;ENSP00000410000:D882E	ENSP00000377047:D1749E	D	+	3	2	PTPRZ1	121461631	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.532000	0.36029	0.651000	0.30788	0.591000	0.81541	GAC		PASS	0.353	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		18	5	18	5	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140534646	140534646	+	Silent	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr7:140534646T>C	ENST00000288602.6	-	3	327	c.267A>G	c.(265-267)ctA>ctG	p.L89L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	89					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L89L(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GGAGTGCATCTAGCTTGCTGG	0.363		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	1	Substitution - coding silent(1)		lung(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(265-267)CTA>CTG		B-Raf	Sorafenib(DB00398)						131.0	125.0	127.0					7																	140534646		2203	4300	6503	SO:0001819	synonymous_variant	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140534646T>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.267A>G	7.37:g.140534646T>C							p.L89L	NM_004333	NP_004324	P15056	BRAF_HUMAN			3	328	-	Melanoma(164;0.00956)		89					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	c.267A>G	CCDS5863.1																																																																																				PASS	0.363	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	8	38	8	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142568305	142568305	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr7:142568305C>A	ENST00000392957.2	+	19	3611	c.2824C>A	c.(2824-2826)Cct>Act	p.P942T	EPHB6_ENST00000442129.1_Missense_Mutation_p.P942T|EPHB6_ENST00000476059.1_Intron|EPHB6_ENST00000411471.2_Missense_Mutation_p.P665T	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	942						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.P927T(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTTCTGACCCCTGTGGCCCT	0.562																																						uc011kst.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(2824-2826)CCT>ACT		ephrin receptor EphB6 precursor							77.0	82.0	80.0					7																	142568305		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142568305C>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2824C>A	7.37:g.142568305C>A	ENSP00000376684:p.Pro942Thr					EPHB6_uc011ksu.1_Missense_Mutation_p.P942T|EPHB6_uc003wbs.2_Missense_Mutation_p.P650T|EPHB6_uc003wbt.2_Missense_Mutation_p.P416T|EPHB6_uc003wbu.2_Missense_Mutation_p.P650T|EPHB6_uc003wbv.2_Missense_Mutation_p.P326T	p.P942T	NM_004445	NP_004436	O15197	EPHB6_HUMAN			19	3611	+	Melanoma(164;0.059)		942			Cytoplasmic (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2824C>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952854	0.73787	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.70631	-0.45;-0.45;-0.5	5.43	5.43	0.79202	.	0.000000	0.47852	D	0.000213	T	0.72020	0.3409	N	0.25332	0.735	0.50813	D	0.999894	D;D	0.71674	0.998;0.998	P;P	0.62298	0.88;0.9	T	0.70583	-0.4832	10	0.34782	T	0.22	.	13.8075	0.63243	0.1631:0.8369:0.0:0.0	.	942;665	O15197;O15197-2	EPHB6_HUMAN;.	T	942;942;665	ENSP00000376684:P942T;ENSP00000410789:P942T;ENSP00000409061:P665T	ENSP00000376684:P942T	P	+	1	0	EPHB6	142278427	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.087000	0.57671	2.526000	0.85167	0.655000	0.94253	CCT		PASS	0.562	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			19	28	19	28	---	---	---	---
TPK1	27010	broad.mit.edu	37	7	144320288	144320288	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr7:144320288G>T	ENST00000360057.3	-	6	427	c.325C>A	c.(325-327)Caa>Aaa	p.Q109K	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.Q104K|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Missense_Mutation_p.Q109K	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	109					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.Q109K(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATCTTCTTTTGGAGCATTTTA	0.318																																					Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(325-327)CAA>AAA		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						189.0	204.0	199.0					7																	144320288		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144320288G>T	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.325C>A	7.37:g.144320288G>T	ENSP00000353165:p.Gln109Lys					TPK1_uc003weo.2_Missense_Mutation_p.Q104K|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.Q109K|TPK1_uc003wes.2_RNA	p.Q109K	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			6	428	-			109					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.325C>A	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	G	8.434	0.849296	0.17034	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000552881	D;T;T;D	0.82526	-1.62;-1.48;-1.48;-1.62	6.02	6.02	0.97574	Thiamin pyrophosphokinase, catalytic domain (3);	0.170144	0.52532	D	0.000072	T	0.81978	0.4937	L	0.33485	1.01	0.80722	D	1	P;P;D	0.60160	0.89;0.795;0.987	P;B;P	0.57152	0.547;0.394;0.814	T	0.75961	-0.3133	10	0.06757	T	0.87	-14.3337	16.0408	0.80680	0.0:0.0:1.0:0.0	.	109;109;104	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	K	109;104;109;109	ENSP00000353165:Q109K;ENSP00000438813:Q104K;ENSP00000367339:Q109K;ENSP00000448655:Q109K	ENSP00000353165:Q109K	Q	-	1	0	TPK1	143951221	1.000000	0.71417	0.991000	0.47740	0.951000	0.60555	5.946000	0.70234	2.865000	0.98341	0.655000	0.94253	CAA		PASS	0.318	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		5	86	5	86	---	---	---	---
NEIL2	252969	broad.mit.edu	37	8	11637323	11637323	+	Nonsense_Mutation	SNP	G	G	T	rs367705147		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:11637323G>T	ENST00000284503.6	+	3	954	c.355G>T	c.(355-357)Gag>Tag	p.E119*	NEIL2_ENST00000403422.3_Nonsense_Mutation_p.E58*|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000436750.3_Nonsense_Mutation_p.E119*|NEIL2_ENST00000455213.2_Nonsense_Mutation_p.E119*	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	119					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)	p.E119*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TGAGTATTTGGAGAGAGACGC	0.587								Base excision repair (BER), DNA glycosylases																														uc003wug.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(355-357)GAG>TAG	BER_DNA_glycosylases	nei like 2 isoform a							77.0	77.0	77.0					8																	11637323		2203	4300	6503	SO:0001587	stop_gained	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11637323G>T	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.355G>T	8.37:g.11637323G>T	ENSP00000284503:p.Glu119*					NEIL2_uc003wue.2_Nonsense_Mutation_p.E119*|NEIL2_uc003wuf.2_Nonsense_Mutation_p.E58*|NEIL2_uc011kxd.1_Intron	p.E119*	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	3	1030	+	all_epithelial(15;0.103)		119					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Nonsense_Mutation	SNP	ENST00000284503.6	37	c.355G>T	CCDS5984.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173009	0.57584	.	.	ENSG00000154328	ENST00000530433;ENST00000455213;ENST00000403422;ENST00000436750;ENST00000284503;ENST00000382309	.	.	.	4.67	-3.89	0.04193	.	0.982038	0.08344	N	0.960379	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-13.2994	1.168	0.01820	0.2241:0.3194:0.2537:0.2029	.	.	.	.	X	119;119;58;119;119;104	.	ENSP00000284503:E119X	E	+	1	0	NEIL2	11674732	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.675000	0.01947	-0.383000	0.07858	-0.367000	0.07326	GAG		PASS	0.587	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		4	32	4	32	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18725364	18725364	+	Missense_Mutation	SNP	C	C	T	rs573668110		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:18725364C>T	ENST00000327040.8	-	4	1556	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	PSD3_ENST00000523619.1_Missense_Mutation_p.R420H|PSD3_ENST00000440756.2_Missense_Mutation_p.R485H	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	485					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R485H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTTTAATGCGCTGTTGTAT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		17581	0.0		0.0	False		,,,				2504	0.001					uc003wza.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1453-1455)CGC>CAC		ADP-ribosylation factor guanine nucleotide							210.0	203.0	205.0					8																	18725364		2049	4206	6255	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18725364C>T	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1454G>A	8.37:g.18725364C>T	ENSP00000324127:p.Arg485His						p.R485H	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	4	1557	-			485					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.1454G>A	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450674	0.84101	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.18810	2.22;2.21;2.19	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000005	T	0.32645	0.0836	L	0.32530	0.975	0.41505	D	0.988308	D	0.71674	0.998	P	0.59056	0.851	T	0.04005	-1.0985	10	0.87932	D	0	.	16.7614	0.85513	0.0:1.0:0.0:0.0	.	485	E9KL50	.	H	485;485;420	ENSP00000324127:R485H;ENSP00000401704:R485H;ENSP00000430640:R420H	ENSP00000324127:R485H	R	-	2	0	PSD3	18769644	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.289000	0.65656	2.637000	0.89404	0.585000	0.79938	CGC		PASS	0.463	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		37	51	37	51	---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22212891	22212891	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:22212891G>T	ENST00000454009.2	+	23	3304	c.2795G>T	c.(2794-2796)tGg>tTg	p.W932L	PIWIL2_ENST00000356766.6_Missense_Mutation_p.W932L|PIWIL2_ENST00000521356.1_Missense_Mutation_p.W896L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	932	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.W932L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CACATGTACTGGAATTGGCCT	0.463																																						uc003xbn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2794-2796)TGG>TTG		piwi-like 2							146.0	120.0	129.0					8																	22212891		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22212891G>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2795G>T	8.37:g.22212891G>T	ENSP00000406956:p.Trp932Leu					PIWIL2_uc011kzf.1_Missense_Mutation_p.W896L|PIWIL2_uc010ltv.2_Missense_Mutation_p.W932L|PIWIL2_uc003xbo.2_Missense_Mutation_p.W86L	p.W932L	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	23	2943	+			932			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2795G>T	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779313	0.70107	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.14516	2.5;2.5;2.5	5.72	5.72	0.89469	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.23649	0.0572	L	0.53249	1.67	0.58432	D	0.999999	B;P	0.38440	0.445;0.631	B;B	0.44044	0.439;0.439	T	0.00376	-1.1779	10	0.66056	D	0.02	-3.3216	18.7237	0.91705	0.0:0.0:1.0:0.0	.	896;932	E7ECA4;Q8TC59	.;PIWL2_HUMAN	L	932;896;932	ENSP00000349208:W932L;ENSP00000428267:W896L;ENSP00000406956:W932L	ENSP00000349208:W932L	W	+	2	0	PIWIL2	22268836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.631000	0.74277	2.714000	0.92807	0.644000	0.83932	TGG		PASS	0.463	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			4	26	4	26	---	---	---	---
DDHD2	23259	broad.mit.edu	37	8	38095096	38095096	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:38095096A>G	ENST00000397166.2	+	4	977	c.452A>G	c.(451-453)aAg>aGg	p.K151R	DDHD2_ENST00000520272.2_Missense_Mutation_p.K151R	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	151					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.K151R(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAATGGAAAAAGAAACTGGAA	0.323																																						uc003xlb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(451-453)AAG>AGG		DDHD domain containing 2 isoform 1							55.0	56.0	56.0					8																	38095096		2201	4298	6499	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38095096A>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.452A>G	8.37:g.38095096A>G	ENSP00000380352:p.Lys151Arg					DDHD2_uc003xla.2_Missense_Mutation_p.K151R|DDHD2_uc003xlc.2_Missense_Mutation_p.K151R|DDHD2_uc011lbl.1_Silent_p.K3K	p.K151R	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		4	829	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	151					B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.452A>G	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	A	6.372	0.436755	0.12104	.	.	ENSG00000085788	ENST00000527834;ENST00000397166;ENST00000528358;ENST00000529642;ENST00000532222;ENST00000520272	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.23	5.23	0.72850	.	0.065996	0.64402	D	0.000006	T	0.11793	0.0287	N	0.03253	-0.375	0.80722	D	1	B;B	0.32071	0.002;0.355	B;B	0.24974	0.004;0.057	T	0.15235	-1.0444	10	0.02654	T	1	-23.8882	14.6385	0.68706	1.0:0.0:0.0:0.0	.	151;151	O94830;E9PKE6	DDHD2_HUMAN;.	R	151;151;149;55;151;151	ENSP00000432433:K151R;ENSP00000380352:K151R;ENSP00000433118:K149R;ENSP00000436444:K55R;ENSP00000433578:K151R;ENSP00000429932:K151R	ENSP00000380352:K151R	K	+	2	0	DDHD2	38214253	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.615000	0.46368	2.105000	0.64084	0.456000	0.33151	AAG		PASS	0.323	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		6	8	6	8	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52366225	52366225	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:52366225C>T	ENST00000356297.4	-	10	1203	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G368E	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	368	Ig-like C2-type 2.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.G368E(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGCTCCAATCCATTGTCCCT	0.512																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1102-1104)GGA>GAA		peroxidasin homolog-like precursor							121.0	120.0	120.0					8																	52366225		2057	4187	6244	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52366225C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1103G>A	8.37:g.52366225C>T	ENSP00000348645:p.Gly368Glu						p.G368E	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			10	1204	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	368			Ig-like C2-type 2.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1103G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.781060	0.00079	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.69306	-0.39;-0.39	3.93	1.9	0.25705	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47021	0.1423	L	0.28776	0.89	0.09310	N	1	B	0.28258	0.205	B	0.32090	0.14	T	0.38156	-0.9674	9	0.02654	T	1	.	6.289	0.21049	0.0:0.6672:0.2084:0.1244	.	368	A1KZ92	PXDNL_HUMAN	E	368	ENSP00000348645:G368E;ENSP00000444865:G368E	ENSP00000348645:G368E	G	-	2	0	PXDNL	52528778	0.000000	0.05858	0.005000	0.12908	0.032000	0.12392	0.802000	0.27069	0.627000	0.30340	0.650000	0.86243	GGA		PASS	0.512	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		15	30	15	30	---	---	---	---
LYN	4067	broad.mit.edu	37	8	56879273	56879273	+	Splice_Site	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:56879273G>T	ENST00000519728.1	+	9	1086		c.e9-1		LYN_ENST00000520220.2_Splice_Site|LYN_ENST00000420292.1_Splice_Site	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase						B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.?(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TTTCTTCCTAGGTTACTATAA	0.488																																						uc003xsk.3																			1	Unknown(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.e9-1		Yamaguchi sarcoma viral (v-yes-1) oncogene							39.0	40.0	40.0					8																	56879273		2203	4299	6502	SO:0001630	splice_region_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56879273G>T	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.791-1G>T	8.37:g.56879273G>T						LYN_uc003xsl.3_Splice_Site_p.G243_splice	p.G264_splice	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		9	1073	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)						A0AVQ5	Splice_Site	SNP	ENST00000519728.1	37	c.791_splice	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396004	0.42512	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	.	.	.	5.73	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5055	0.55979	0.1355:0.0:0.8645:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LYN	57041827	1.000000	0.71417	0.883000	0.34634	0.503000	0.33858	5.125000	0.64715	0.790000	0.33803	-0.150000	0.13652	.		PASS	0.488	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350	Intron	4	36	4	36	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61741222	61741222	+	Splice_Site	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:61741222G>A	ENST00000423902.2	+	14	3858	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1127	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E1127K(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTTACCTCAGGAACACAAAGT	0.448																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(3379-3381)GAA>AAA		chromodomain helicase DNA binding protein 7							48.0	49.0	49.0					8																	61741222		1882	4113	5995	SO:0001630	splice_region_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61741222G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3379-1G>A	8.37:g.61741222G>A							p.E1127K	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		14	3856	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1127			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3379G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033506	0.93575	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.92647	-3.08	5.76	5.76	0.90799	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	N	0.02213	-0.635	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.88241	0.2910	9	.	.	.	-24.0591	15.4301	0.75087	0.0683:0.0:0.9317:0.0	.	1127	Q9P2D1	CHD7_HUMAN	K	1127	ENSP00000392028:E1127K	.	E	+	1	0	CHD7	61903776	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	8.030000	0.88816	2.879000	0.98667	0.650000	0.86243	GAA		PASS	0.448	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	Missense_Mutation	9	18	9	18	---	---	---	---
GGH	8836	broad.mit.edu	37	8	63936743	63936743	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:63936743G>C	ENST00000260118.6	-	6	904	c.502C>G	c.(502-504)Caa>Gaa	p.Q168E	RP11-659E9.4_ENST00000521556.1_RNA|GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	168	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)	p.Q168E(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	CTGTGCAATTGACCTGAAATA	0.373																																						uc003xuw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)CAA>GAA		gamma-glutamyl hydrolase precursor	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						31.0	30.0	31.0					8																	63936743		2203	4300	6503	SO:0001583	missense	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63936743G>C	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.502C>G	8.37:g.63936743G>C	ENSP00000260118:p.Gln168Glu						p.Q168E	NM_003878	NP_003869	Q92820	GGH_HUMAN			6	785	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	168			Gamma-glutamyl hydrolase.			Missense_Mutation	SNP	ENST00000260118.6	37	c.502C>G	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	G	8.778	0.927551	0.18056	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.44482	0.92	5.49	-11.0	0.00169	.	1.113130	0.06674	N	0.766726	T	0.12902	0.0313	N	0.02539	-0.55	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.22521	-1.0214	10	0.26408	T	0.33	-2.3263	6.7402	0.23431	0.1801:0.5456:0.1612:0.1131	.	168	Q92820	GGH_HUMAN	E	168;129	ENSP00000260118:Q168E	ENSP00000260118:Q168E	Q	-	1	0	GGH	64099297	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.453000	0.02383	-2.621000	0.00439	-0.482000	0.04802	CAA		PASS	0.373	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			9	23	9	23	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87755766	87755766	+	Silent	SNP	G	G	C	rs371664722		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:87755766G>C	ENST00000320005.5	-	1	137	c.90C>G	c.(88-90)ggC>ggG	p.G30G	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	30					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.G30G(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						TTGGGTGAGAGCCTTCTTCAT	0.413																																						uc003ydx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(88-90)GGC>GGG		cyclic nucleotide gated channel beta 3							343.0	285.0	304.0					8																	87755766		2203	4300	6503	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87755766G>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.90C>G	8.37:g.87755766G>C							p.G30G	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			1	136	-			30			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.90C>G	CCDS6244.1																																																																																				PASS	0.413	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		20	33	20	33	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92364054	92364054	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:92364054C>T	ENST00000276609.3	+	10	1396	c.1157C>T	c.(1156-1158)tCt>tTt	p.S386F	SLC26A7_ENST00000523719.1_Missense_Mutation_p.S386F|SLC26A7_ENST00000309536.2_Missense_Mutation_p.S386F|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.S386F(2)|p.S386C(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGTCTAATATCTTGCATTTTC	0.363																																						uc003yex.2																			4	Substitution - Missense(4)		cervix(2)|lung(2)	ovary(2)	2						c.(1156-1158)TCT>TTT		solute carrier family 26, member 7 isoform a							188.0	173.0	178.0					8																	92364054		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92364054C>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1157C>T	8.37:g.92364054C>T	ENSP00000276609:p.Ser386Phe					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.S386F|SLC26A7_uc003yfa.2_Missense_Mutation_p.S386F	p.S386F	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		11	1435	+			386			Helical; (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.1157C>T	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187600	0.78789	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.93547	-3.24;-3.24;-3.24	5.48	5.48	0.80851	Sulphate transporter (1);	0.000000	0.64402	D	0.000002	D	0.97523	0.9189	M	0.90922	3.16	0.48452	D	0.999657	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98216	1.0475	10	0.87932	D	0	.	18.9438	0.92613	0.0:1.0:0.0:0.0	.	386;386	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	F	386	ENSP00000428849:S386F;ENSP00000276609:S386F;ENSP00000309504:S386F	ENSP00000276609:S386F	S	+	2	0	SLC26A7	92433230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.006000	0.63978	2.575000	0.86900	0.591000	0.81541	TCT		PASS	0.363	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			15	47	15	47	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100523350	100523350	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:100523350G>C	ENST00000358544.2	+	29	4429	c.4318G>C	c.(4318-4320)Gat>Cat	p.D1440H	VPS13B_ENST00000357162.2_Missense_Mutation_p.D1415H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1440					protein transport (GO:0015031)			p.D1440H(1)|p.D1415H(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAACTTCTAGATGGCACTCA	0.348																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(4318-4320)GAT>CAT		vacuolar protein sorting 13B isoform 5							76.0	79.0	78.0					8																	100523350		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523350G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4318G>C	8.37:g.100523350G>C	ENSP00000351346:p.Asp1440His					VPS13B_uc003yiw.2_Missense_Mutation_p.D1415H|VPS13B_uc003yix.1_Missense_Mutation_p.D910H	p.D1440H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4429	+	Breast(36;3.73e-07)		1440					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4318G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087614	0.76642	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.48522	0.81;0.81	5.42	5.42	0.78866	.	0.127271	0.53938	D	0.000046	T	0.60637	0.2284	L	0.40543	1.245	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.995	D;P;P	0.63113	0.911;0.874;0.819	T	0.62134	-0.6918	10	0.72032	D	0.01	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1439;1415;1440	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	H	1415;1440	ENSP00000349685:D1415H;ENSP00000351346:D1440H	ENSP00000349685:D1415H	D	+	1	0	VPS13B	100592526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.537000	0.98070	2.705000	0.92388	0.484000	0.47621	GAT		PASS	0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		51	5	51	5	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103297515	103297515	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:103297515T>C	ENST00000520539.1	-	40	6142	c.5536A>G	c.(5536-5538)Atg>Gtg	p.M1846V	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.M1840V|UBR5_ENST00000220959.4_Missense_Mutation_p.M1846V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1846					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.M1846V(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTAGAATCCATAATACTGACC	0.378																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(5536-5538)ATG>GTG		ubiquitin protein ligase E3 component n-recognin							124.0	116.0	119.0					8																	103297515		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297515T>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5536A>G	8.37:g.103297515T>C	ENSP00000429084:p.Met1846Val					UBR5_uc003yks.1_Missense_Mutation_p.M1846V	p.M1846V	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		40	5569	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1846					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5536A>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565082	0.65651	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.57752	0.38;0.38;0.38	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.61703	1.905	0.58432	D	0.999999	B;B	0.31435	0.323;0.323	B;B	0.41332	0.354;0.354	T	0.63274	-0.6674	10	0.87932	D	0	.	16.0203	0.80478	0.0:0.0:0.0:1.0	.	1840;1846	E7EMW7;O95071	.;UBR5_HUMAN	V	1846;1846;1840	ENSP00000429084:M1846V;ENSP00000220959:M1846V;ENSP00000427819:M1840V	ENSP00000220959:M1846V	M	-	1	0	UBR5	103366691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.177000	0.69029	0.460000	0.39030	ATG		PASS	0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		34	23	34	23	---	---	---	---
SLC25A32	81034	broad.mit.edu	37	8	104427542	104427542	+	5'Flank	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:104427542A>T	ENST00000297578.4	-	0	0				DCAF13_ENST00000297579.5_Silent_p.P108P|DCAF13_ENST00000521971.1_5'Flank|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank|DCAF13_ENST00000519682.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)	p.P108P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CAGTTGAGCCAGCAGGCCGCC	0.637																																						uc003yln.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(322-324)CCA>CCT		WD repeats and SOF1 domain containing							31.0	40.0	37.0					8																	104427542		2201	4297	6498	SO:0001631	upstream_gene_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104427542A>T	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427542A>T	Exception_encountered					SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	p.P108P	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN			1	601	+			Error:Variant_position_missing_in_Q9NV06_after_alignment					Q96JZ6|Q96SU7	Silent	SNP	ENST00000297578.4	37	c.324A>T	CCDS6300.1																																																																																				PASS	0.637	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		15	25	15	25	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116616594	116616594	+	Silent	SNP	C	C	A	rs368347644		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:116616594C>A	ENST00000220888.5	-	3	1722	c.1563G>T	c.(1561-1563)acG>acT	p.T521T	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000395715.3_Silent_p.T534T|TRPS1_ENST00000520276.1_Silent_p.T525T|TRPS1_ENST00000519674.1_Silent_p.T521T			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	521					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T534T(1)|p.T521T(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AATTATAGCTCGTTACCATAT	0.458									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1561-1563)ACG>ACT		zinc finger transcription factor TRPS1							153.0	149.0	150.0					8																	116616594		1894	4120	6014	SO:0001819	synonymous_variant	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616594C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1563G>T	8.37:g.116616594C>A						TRPS1_uc011lhy.1_Silent_p.T525T|TRPS1_uc003yny.2_Silent_p.T534T|TRPS1_uc010mcy.2_Silent_p.T521T	p.T521T	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	2022	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		521					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.1563G>T																																																																																					PASS	0.458	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		5	62	5	62	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964395	123964395	+	Silent	SNP	C	C	T	rs184731017	byFrequency	TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:123964395C>T	ENST00000314393.4	+	3	1480	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	215	Required for homodimerization.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T215T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGGAAGGGACCGCCCGCCTGG	0.582													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17552	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(643-645)ACC>ACT		zinc fingers and homeoboxes 2							117.0	124.0	122.0					8																	123964395		2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964395C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.645C>T	8.37:g.123964395C>T							p.T215T	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1212	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		215			Required for homodimerization.			Silent	SNP	ENST00000314393.4	37	c.645C>T	CCDS6336.1																																																																																				PASS	0.582	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		27	75	27	75	---	---	---	---
TG	7038	broad.mit.edu	37	8	134145777	134145777	+	Missense_Mutation	SNP	C	C	A	rs530272451		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:134145777C>A	ENST00000220616.4	+	47	8101	c.8061C>A	c.(8059-8061)gaC>gaA	p.D2687E	TG_ENST00000519543.1_Missense_Mutation_p.D820E|TG_ENST00000377869.1_Missense_Mutation_p.D2630E|TG_ENST00000542445.1_Missense_Mutation_p.D1057E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2687					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.D2687E(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)		CCTGGCCTGACTTTGTACCCC	0.507																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(8059-8061)GAC>GAA		thyroglobulin precursor							131.0	124.0	126.0					8																	134145777		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134145777C>A	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.8061C>A	8.37:g.134145777C>A	ENSP00000220616:p.Asp2687Glu					TG_uc010mdw.2_Missense_Mutation_p.D1446E|TG_uc011ljb.1_Missense_Mutation_p.D1056E|TG_uc011ljc.1_Missense_Mutation_p.D820E	p.D2687E	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	47	8102	+	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)	2687					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.8061C>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.42|10.42	1.344539|1.344539	0.24339|0.24339	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107|ENST00000519178	T;T;T;T;T|.	0.65364|.	-0.15;-0.15;-0.15;-0.15;0.99|.	4.84|4.84	1.85|1.85	0.25348|0.25348	Carboxylesterase, type B (1);|.	0.340396|.	0.25329|.	N|.	0.031447|.	T|T	0.16041|0.16041	0.0386|0.0386	N|N	0.10916|0.10916	0.065|0.065	0.23346|0.23346	N|N	0.997862|0.997862	B;B;B|.	0.26809|.	0.007;0.021;0.16|.	B;B;B|.	0.23150|.	0.026;0.016;0.044|.	T|T	0.19484|0.19484	-1.0304|-1.0304	10|5	0.18710|.	T|.	0.47|.	.|.	2.9038|2.9038	0.05714|0.05714	0.1623:0.4425:0.2937:0.1015|0.1623:0.4425:0.2937:0.1015	.|.	820;1057;2687|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	E|I	2630;1493;2687;806;1057;820;91|1143	ENSP00000367100:D2630E;ENSP00000220616:D2687E;ENSP00000441693:D1057E;ENSP00000430430:D820E;ENSP00000430161:D91E|.	ENSP00000220616:D2687E|.	D|L	+|+	3|1	2|0	TG|TG	134214959|134214959	0.997000|0.997000	0.39634|0.39634	0.995000|0.995000	0.50966|0.50966	0.554000|0.554000	0.35429|0.35429	1.279000|1.279000	0.33191|0.33191	1.137000|1.137000	0.42214|0.42214	0.561000|0.561000	0.74099|0.74099	GAC|CTT		PASS	0.507	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		16	41	16	41	---	---	---	---
TG	7038	broad.mit.edu	37	8	134146939	134146939	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:134146939G>A	ENST00000220616.4	+	48	8248	c.8208G>A	c.(8206-8208)caG>caA	p.Q2736Q	TG_ENST00000519543.1_Silent_p.Q869Q|TG_ENST00000377869.1_Silent_p.Q2679Q|TG_ENST00000542445.1_Silent_p.Q1106Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2736					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.Q2736Q(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)		AGGGCGGGCAGTCAGCAGAGA	0.537																																						uc003ytw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(8206-8208)CAG>CAA		thyroglobulin precursor							98.0	86.0	90.0					8																	134146939		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134146939G>A	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.8208G>A	8.37:g.134146939G>A						TG_uc010mdw.2_Silent_p.Q1495Q|TG_uc011ljb.1_Silent_p.Q1105Q|TG_uc011ljc.1_Silent_p.Q869Q	p.Q2736Q	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	48	8249	+	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)	2736					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.8208G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	1.146	-0.647978	0.03506	.	.	ENSG00000042832	ENST00000519178	.	.	.	4.39	0.365	0.16131	.	.	.	.	.	T	0.23054	0.0557	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23904	-1.0175	4	.	.	.	.	3.5391	0.07804	0.294:0.0:0.5317:0.1743	.	.	.	.	I	1192	.	.	V	+	1	0	TG	134216121	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.076000	0.11412	-0.043000	0.13513	-0.332000	0.08345	GTC		PASS	0.537	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		40	22	40	22	---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145742508	145742508	+	5'Flank	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr8:145742508G>A	ENST00000292524.1	+	0	0				RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Missense_Mutation_p.P94S|LRRC14_ENST00000529022.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14									p.P94S(1)		endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTCCGCCCTGGCGTAGACTGT	0.672																																						uc003zdj.2										N|F|S						osteosarcoma|skin basal and sqamous cell			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)|skin(1)	4						c.(280-282)CCA>TCA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4							20.0	22.0	21.0					8																	145742508		1967	4146	6113	SO:0001631	upstream_gene_variant	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145742508G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742508G>A	Exception_encountered					LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	p.P94S	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	312	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		94					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.280C>T	CCDS6432.1																																																																																				PASS	0.672	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		8	9	8	9	---	---	---	---
NDUFB6	4712	broad.mit.edu	37	9	32573013	32573013	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr9:32573013G>C	ENST00000379847.3	-	1	147	c.46C>G	c.(46-48)Cga>Gga	p.R16G	NDUFB6_ENST00000350021.2_Missense_Mutation_p.R16G	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	16					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R16G(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		CTCAGCTCTCGCAGCTGCTGC	0.602											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zre.1																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)CGA>GGA		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						33.0	31.0	31.0					9																	32573013		2203	4299	6502	SO:0001583	missense	4712				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr9:32573013G>C	AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"""Mitochondrial respiratory chain complex / Complex I"""	7701	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase beta subunit, 6"", ""NADH-ubiquinone oxidoreductase B17 subunit"", ""complex I, mitochondrial respiratory chain, B17 subunit"""	603322	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"""			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.46C>G	9.37:g.32573013G>C	ENSP00000369176:p.Arg16Gly		OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	833	NDUFB6_uc003zrf.1_Missense_Mutation_p.R16G	p.R16G	NM_002493	NP_002484	O95139	NDUB6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	1	170	-			16					A8K0Y7|Q5VYT2|Q6IB84	Missense_Mutation	SNP	ENST00000379847.3	37	c.46C>G	CCDS6528.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035404	0.75617	.	.	ENSG00000165264	ENST00000379847;ENST00000350021	.	.	.	5.1	4.21	0.49690	.	0.319354	0.31660	N	0.007277	T	0.69441	0.3111	M	0.71036	2.16	0.39638	D	0.970284	D;P	0.63880	0.993;0.956	D;P	0.64144	0.922;0.828	T	0.73319	-0.4020	9	0.72032	D	0.01	-24.6241	8.5934	0.33701	0.0811:0.0:0.7669:0.152	.	16;16	Q5VYT2;O95139	.;NDUB6_HUMAN	G	16	.	ENSP00000297983:R16G	R	-	1	2	NDUFB6	32563013	0.017000	0.18338	0.967000	0.41034	0.944000	0.59088	1.078000	0.30754	1.528000	0.49103	0.655000	0.94253	CGA		PASS	0.602	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052001.1	NM_002493		4	17	4	17	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35045209	35045209	+	Silent	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr9:35045209C>A	ENST00000312292.5	+	2	2630	c.2583C>A	c.(2581-2583)tcC>tcA	p.S861S	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Silent_p.S788S|C9orf131_ENST00000421362.2_Silent_p.S813S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	861								p.S861S(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCCAGTCCTCCCACTGTCATC	0.552																																						uc003zvw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2581-2583)TCC>TCA		hypothetical protein LOC138724 isoform A							267.0	273.0	271.0					9																	35045209		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35045209C>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2583C>A	9.37:g.35045209C>A						C9orf131_uc003zvu.2_Silent_p.S813S|C9orf131_uc003zvv.2_Silent_p.S788S|C9orf131_uc003zvx.2_Silent_p.S826S	p.S861S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2612	+	all_epithelial(49;0.22)		861					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.2583C>A	CCDS6572.2																																																																																				PASS	0.552	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		8	234	8	234	---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90313662	90313662	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr9:90313662G>A	ENST00000408954.3	+	23	3038	c.2703G>A	c.(2701-2703)gaG>gaA	p.E901E	DAPK1_ENST00000491893.1_Silent_p.E835E|DAPK1_ENST00000472284.1_Silent_p.E901E|DAPK1_ENST00000358077.5_Silent_p.E901E|DAPK1_ENST00000469640.2_Silent_p.E901E	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	901					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E902E(1)|p.E901E(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CTGGAGGCGAGTTTGGATATG	0.562									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(2701-2703)GAG>GAA		death-associated protein kinase 1							53.0	58.0	56.0					9																	90313662		2155	4263	6418	SO:0001819	synonymous_variant	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90313662G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2703G>A	9.37:g.90313662G>A						DAPK1_uc004apd.2_Silent_p.E901E|DAPK1_uc011ltg.1_Silent_p.E835E|DAPK1_uc011lth.1_Silent_p.E638E	p.E901E	NM_004938	NP_004929	P53355	DAPK1_HUMAN			23	2841	+			901			ANK 9.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.2703G>A	CCDS43842.1																																																																																				PASS	0.562	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		16	24	16	24	---	---	---	---
TSTD2	158427	broad.mit.edu	37	9	100364999	100364999	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr9:100364999G>A	ENST00000341170.4	-	10	1685	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	435								p.P435S(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CGGCACTGGGGAGTAGAGCAG	0.507																																						uc004axn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1303-1305)CCC>TCC		thiosulfate sulfurtransferase (rhodanese)-like							103.0	96.0	98.0					9																	100364999		2203	4300	6503	SO:0001583	missense	158427							g.chr9:100364999G>A	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1303C>T	9.37:g.100364999G>A	ENSP00000342499:p.Pro435Ser					TSTD2_uc004axo.2_Missense_Mutation_p.P209S	p.P435S	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN			10	1791	-			435					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	c.1303C>T	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	G	6.192	0.403593	0.11754	.	.	ENSG00000136925	ENST00000375173;ENST00000375172;ENST00000341170	T;T	0.35973	1.28;1.28	5.63	2.59	0.31030	.	0.816535	0.11261	N	0.582527	T	0.27524	0.0676	L	0.39514	1.22	0.18873	N	0.999984	B	0.16396	0.017	B	0.11329	0.006	T	0.19031	-1.0318	10	0.59425	D	0.04	-3.3853	5.6261	0.17482	0.0706:0.1219:0.5566:0.2508	.	435	Q5T7W7	TSTD2_HUMAN	S	31;209;435	ENSP00000364316:P31S;ENSP00000342499:P435S	ENSP00000342499:P435S	P	-	1	0	TSTD2	99404820	0.851000	0.29673	0.997000	0.53966	0.117000	0.20001	1.266000	0.33039	1.496000	0.48567	0.655000	0.94253	CCC		PASS	0.507	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		15	36	15	36	---	---	---	---
KIAA1958	158405	broad.mit.edu	37	9	115337069	115337069	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr9:115337069A>T	ENST00000337530.6	+	2	1005	c.709A>T	c.(709-711)Aag>Tag	p.K237*	KIAA1958_ENST00000374244.3_Nonsense_Mutation_p.K237*|KIAA1958_ENST00000536272.1_Nonsense_Mutation_p.K237*	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	237								p.K237*(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GGCAAAACCCAAGCCTCAGAC	0.512																																						uc004bgf.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(709-711)AAG>TAG		hypothetical protein LOC158405							136.0	117.0	123.0					9																	115337069		2203	4300	6503	SO:0001587	stop_gained	158405							g.chr9:115337069A>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.709A>T	9.37:g.115337069A>T	ENSP00000336940:p.Lys237*					KIAA1958_uc011lwx.1_Nonsense_Mutation_p.K237*	p.K237*	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN			2	884	+			237					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Nonsense_Mutation	SNP	ENST00000337530.6	37	c.709A>T	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	A	35	5.585170	0.96578	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.0938	16.3951	0.83601	1.0:0.0:0.0:0.0	.	.	.	.	X	237	.	ENSP00000336940:K237X	K	+	1	0	KIAA1958	114376890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.609000	0.74173	2.272000	0.75746	0.460000	0.39030	AAG		PASS	0.512	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		20	93	20	93	---	---	---	---
ZNF618	114991	broad.mit.edu	37	9	116811778	116811778	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr9:116811778C>T	ENST00000374126.5	+	15	2295	c.2196C>T	c.(2194-2196)ctC>ctT	p.L732L	ZNF618_ENST00000288466.7_Silent_p.L639L|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	732					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.L649L(1)|p.L732L(1)|p.L639L(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGCACCTGCTCAGCAACCTGG	0.597																																						uc004bid.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(2194-2196)CTC>CTT		zinc finger protein 618							40.0	44.0	43.0					9																	116811778		2140	4245	6385	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811778C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2196C>T	9.37:g.116811778C>T						ZNF618_uc004bic.2_Silent_p.L639L|ZNF618_uc011lxi.1_Silent_p.L699L|ZNF618_uc011lxj.1_Silent_p.L700L|ZNF618_uc010mvb.2_Silent_p.L322L	p.L732L	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			15	2295	+			732					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.2196C>T																																																																																					PASS	0.597	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		9	17	9	17	---	---	---	---
ZNF618	114991	broad.mit.edu	37	9	116811801	116811801	+	Missense_Mutation	SNP	C	C	T	rs375702223		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr9:116811801C>T	ENST00000374126.5	+	15	2318	c.2219C>T	c.(2218-2220)aCg>aTg	p.T740M	ZNF618_ENST00000288466.7_Missense_Mutation_p.T647M|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	740					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.T740M(1)|p.T657M(1)|p.T647M(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCCATCCTGACGCCGGTGAAG	0.612																																						uc004bid.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2218-2220)ACG>ATG		zinc finger protein 618		C	MET/THR	0,4278		0,0,2139	35.0	39.0	38.0		1940	4.1	1.0	9		38	1,8459		0,1,4229	no	missense	ZNF618	NM_133374.2	81	0,1,6368	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging	647/862	116811801	1,12737	2139	4230	6369	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811801C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2219C>T	9.37:g.116811801C>T	ENSP00000363241:p.Thr740Met					ZNF618_uc004bic.2_Missense_Mutation_p.T647M|ZNF618_uc011lxi.1_Missense_Mutation_p.T707M|ZNF618_uc011lxj.1_Missense_Mutation_p.T708M|ZNF618_uc010mvb.2_Missense_Mutation_p.T330M	p.T740M	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			15	2318	+			740					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.2219C>T		.	.	.	.	.	.	.	.	.	.	C	16.50	3.141602	0.57044	0.0	1.18E-4	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.22134	1.97;1.97	5.03	4.12	0.48240	Ribonuclease H-like (1);	0.052041	0.85682	D	0.000000	T	0.28400	0.0702	.	.	.	0.38323	D	0.943598	P;D;D	0.59357	0.923;0.968;0.985	B;B;P	0.47251	0.271;0.271;0.542	T	0.23619	-1.0183	9	0.56958	D	0.05	-16.1732	14.1135	0.65137	0.1515:0.8485:0.0:0.0	.	707;740;647	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	M	740;647	ENSP00000363241:T740M;ENSP00000288466:T647M	ENSP00000288466:T647M	T	+	2	0	ZNF618	115851622	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	5.439000	0.66556	1.230000	0.43646	0.561000	0.74099	ACG		PASS	0.612	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		7	21	7	21	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117808912	117808912	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr9:117808912G>C	ENST00000350763.4	-	17	5313	c.4902C>G	c.(4900-4902)gaC>gaG	p.D1634E	TNC_ENST00000537320.1_Intron|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000542877.1_Missense_Mutation_p.D1271E|TNC_ENST00000535648.1_Missense_Mutation_p.D1179E|TNC_ENST00000340094.3_Missense_Mutation_p.D1270E|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.D1452E|TNC_ENST00000346706.3_Missense_Mutation_p.D1088E|TNC_ENST00000423613.2_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1634	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.D1634E(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACGGAAACCGTCTGGGGTGG	0.478																																						uc004bjj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(4900-4902)GAC>GAG		tenascin C precursor							50.0	58.0	55.0					9																	117808912		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117808912G>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4902C>G	9.37:g.117808912G>C	ENSP00000265131:p.Asp1634Glu					TNC_uc010mvf.2_Intron	p.D1634E	NM_002160	NP_002151	P24821	TENA_HUMAN			17	5264	-			1634			Fibronectin type-III 12.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.4902C>G	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.64|11.64	1.699799|1.699799	0.30142|0.30142	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000350763;ENST00000341037;ENST00000542877|ENST00000544972	T;T;T;T;T;T|.	0.58060|.	0.36;0.36;0.36;0.36;0.36;0.36|.	5.94|5.94	-7.42|-7.42	0.01388|0.01388	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.122712|.	0.53938|.	D|.	0.000042|.	T|T	0.63379|0.63379	0.2506|0.2506	M|M	0.64080|0.64080	1.96|1.96	0.58432|0.58432	D|D	0.999994|0.999994	B|.	0.31100|.	0.308|.	B|.	0.37015|.	0.239|.	T|T	0.68659|0.68659	-0.5350|-0.5350	10|5	0.40728|.	T|.	0.16|.	.|.	13.3445|13.3445	0.60564|0.60564	0.6403:0.0:0.2833:0.0764|0.6403:0.0:0.2833:0.0764	.|.	1634|.	P24821|.	TENA_HUMAN|.	E|G	1270;1179;1088;1634;1452;1271|197	ENSP00000344400:D1270E;ENSP00000438152:D1179E;ENSP00000344555:D1088E;ENSP00000265131:D1634E;ENSP00000339553:D1452E;ENSP00000442242:D1271E|.	ENSP00000344400:D1270E|.	D|R	-|-	3|1	2|2	TNC|TNC	116848733|116848733	0.307000|0.307000	0.24500|0.24500	0.644000|0.644000	0.29465|0.29465	0.959000|0.959000	0.62525|0.62525	-0.277000|-0.277000	0.08502|0.08502	-1.419000|-1.419000	0.02012|0.02012	-0.137000|-0.137000	0.14449|0.14449	GAC|CGG		PASS	0.478	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		19	37	19	37	---	---	---	---
ABL1	25	broad.mit.edu	37	9	133760965	133760965	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr9:133760965G>A	ENST00000318560.5	+	11	3669	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1096	F-actin-binding.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.E1096E(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	ATCTCCGGGAGCTTCAGATCT	0.527			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2				Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(3286-3288)GAG>GAA		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						47.0	51.0	50.0					9																	133760965		2203	4300	6503	SO:0001819	synonymous_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760965G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3288G>A	9.37:g.133760965G>A						ABL1_uc004bzv.2_Silent_p.E1115E	p.E1096E	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	3291	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	1096			Nuclear export signal (By similarity).|F-actin-binding.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	c.3288G>A	CCDS35166.1																																																																																				PASS	0.527	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		11	19	11	19	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140907687	140907687	+	Splice_Site	SNP	C	C	A	rs201481972		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr9:140907687C>A	ENST00000371372.1	+	18	2412	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D	CACNA1B_ENST00000371363.1_Splice_Site_p.A756D|CACNA1B_ENST00000371355.4_Splice_Site_p.A757D|CACNA1B_ENST00000277551.2_Splice_Site_p.A756D|CACNA1B_ENST00000277550.3_Splice_Site_p.A47D|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Splice_Site_p.A757D	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	756					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.A756D(1)|p.A47D(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCATCGCCGCGTAAGGCTCC	0.607																																						uc004cog.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|large_intestine(2)|ovary(1)	6						c.(2266-2268)GCC>GAC		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						44.0	45.0	45.0					9																	140907687		1961	4128	6089	SO:0001630	splice_region_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140907687C>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2267+1C>A	9.37:g.140907687C>A						CACNA1B_uc011mfd.1_Missense_Mutation_p.A287E	p.A756D	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	18	2412	+	all_cancers(76;0.166)		756			Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.2267C>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932005	0.73442	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000277550	D;D;D;D;D;T	0.96716	-4.09;-4.1;-4.09;-4.09;-4.08;0.88	4.29	4.29	0.51040	.	0.376195	0.26220	U	0.025629	D	0.97353	0.9134	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98210	1.0472	10	0.66056	D	0.02	.	16.7573	0.85503	0.0:1.0:0.0:0.0	.	756	B1AQK6	.	D	756;756;756;757;757;47	ENSP00000360423:A756D;ENSP00000277551:A756D;ENSP00000360414:A756D;ENSP00000360408:A757D;ENSP00000360406:A757D;ENSP00000277550:A47D	ENSP00000277550:A47D	A	+	2	0	CACNA1B	140027508	1.000000	0.71417	0.997000	0.53966	0.718000	0.41266	5.667000	0.68067	1.930000	0.55929	0.561000	0.74099	GCC;GCC;GCC;GCC;GCC;GCT		PASS	0.607	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	Missense_Mutation	14	14	14	14	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25877958	25877958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr10:25877958G>A	ENST00000376351.3	+	8	2135	c.1776G>A	c.(1774-1776)tgG>tgA	p.W592*		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	592					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W592*(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCCTCTTGTGGGGTGTTTATC	0.393																																						uc001isj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1774-1776)TGG>TGA		G protein-coupled receptor 158 precursor							106.0	98.0	100.0					10																	25877958		2203	4300	6503	SO:0001587	stop_gained	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25877958G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1776G>A	10.37:g.25877958G>A	ENSP00000365529:p.Trp592*						p.W592*	NM_020752	NP_065803	Q5T848	GP158_HUMAN			8	1836	+			592			Helical; Name=5; (Potential).		Q6QR81|Q9ULT3	Nonsense_Mutation	SNP	ENST00000376351.3	37	c.1776G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	41	8.965609	0.99019	.	.	ENSG00000151025	ENST00000376351	.	.	.	4.94	4.03	0.46877	.	0.099623	0.45606	D	0.000356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3531	0.60613	0.0764:0.0:0.9236:0.0	.	.	.	.	X	592	.	ENSP00000365529:W592X	W	+	3	0	GPR158	25917964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.591000	0.82666	1.211000	0.43351	0.655000	0.94253	TGG		PASS	0.393	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		7	15	7	15	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29754670	29754670	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr10:29754670C>T	ENST00000355867.4	-	34	6739	c.5987G>A	c.(5986-5988)aGt>aAt	p.S1996N	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.S910N|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.S1570N|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.S1996N|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1996					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.S1996N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAAGTTAAAACTTCCAGGATC	0.438																																						uc001iut.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(5986-5988)AGT>AAT		supervillin isoform 2							19.0	22.0	21.0					10																	29754670		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29754670C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5987G>A	10.37:g.29754670C>T	ENSP00000348128:p.Ser1996Asn					LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.S910N|SVIL_uc001iuu.1_Missense_Mutation_p.S1570N	p.S1996N	NM_021738	NP_068506	O95425	SVIL_HUMAN			34	6740	-		Breast(68;0.103)	1996					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.5987G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419505	0.25552	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.56	3.54	0.40534	.	0.131590	0.64402	N	0.000002	T	0.10895	0.0266	N	0.20685	0.6	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.001;0.005;0.001	T	0.15549	-1.0433	10	0.23302	T	0.38	-8.1782	4.4396	0.11568	0.0:0.2104:0.0:0.7896	.	910;1570;1996	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	N	1570;1996;1996;910	ENSP00000364549:S1570N;ENSP00000364547:S1996N;ENSP00000348128:S1996N;ENSP00000445472:S910N	ENSP00000348128:S1996N	S	-	2	0	SVIL	29794676	1.000000	0.71417	0.979000	0.43373	0.987000	0.75469	2.541000	0.45735	0.961000	0.38030	0.650000	0.86243	AGT		PASS	0.438	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			3	6	3	6	---	---	---	---
C10orf105	414152	broad.mit.edu	37	10	73494018	73494018	+	Intron	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr10:73494018C>G	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Missense_Mutation_p.L1381V	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)		p.L1381V(1)									AGTCCAGGGCCTGGTGGACCG	0.597																																						uc001jrx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(4126-4128)CTG>GTG		cadherin-like 23 isoform 1 precursor							53.0	62.0	59.0					10																	73494018		2150	4235	6385	SO:0001627	intron_variant	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.chr10:73494018C>G	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+3466G>C	10.37:g.73494018C>G						C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.L184V	p.L1376V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			32	4503	+			1376			Cadherin 13.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000398786.2	37	c.4126C>G	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998081	0.35226	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.28	3.36	0.38483	Cadherin (4);Cadherin-like (1);	0.326553	0.25810	N	0.028151	T	0.33118	0.0852	N	0.05510	-0.035	0.80722	D	1	B;P	0.39131	0.032;0.661	B;B	0.41202	0.033;0.35	T	0.09596	-1.0667	9	0.26408	T	0.33	.	11.5415	0.50669	0.0:0.911:0.0:0.089	.	197;1376	E7ERT0;Q9H251	.;CAD23_HUMAN	V	1381;1376;1379;197	.	ENSP00000224721:L1381V	L	+	1	2	CDH23	73164024	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.049000	0.49869	1.123000	0.41961	0.655000	0.94253	CTG		PASS	0.597	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		8	11	8	11	---	---	---	---
GSTO1	9446	broad.mit.edu	37	10	106022748	106022748	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr10:106022748G>C	ENST00000369713.5	+	4	572	c.378G>C	c.(376-378)ttG>ttC	p.L126F	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000539281.1_Missense_Mutation_p.L98F|GSTO1_ENST00000369710.4_Intron	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	126	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)	p.L126F(1)		large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	TGCCATCCTTGGTAGGAAGCT	0.373																																						uc001kya.2																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)TTG>TTC		glutathione-S-transferase omega 1	Glutathione(DB00143)						79.0	76.0	77.0					10																	106022748		2203	4300	6503	SO:0001583	missense	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106022748G>C	AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.378G>C	10.37:g.106022748G>C	ENSP00000358727:p.Leu126Phe						p.L126F	NM_004832	NP_004823	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	4	387	+		Colorectal(252;0.102)|Breast(234;0.122)	126			GST C-terminal.		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	ENST00000369713.5	37	c.378G>C	CCDS7555.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387391	0.42308	.	.	ENSG00000148834	ENST00000539281;ENST00000369713;ENST00000445155	T;T;T	0.14266	2.52;2.52;2.52	4.83	4.83	0.62350	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.328162	0.34245	N	0.004123	T	0.31638	0.0803	M	0.80028	2.48	0.25860	N	0.983834	P	0.52061	0.95	D	0.63957	0.92	T	0.14811	-1.0459	10	0.19590	T	0.45	-11.3623	9.2599	0.37605	0.0965:0.0:0.9035:0.0	.	126	P78417	GSTO1_HUMAN	F	98;126;98	ENSP00000441488:L98F;ENSP00000358727:L126F;ENSP00000406708:L98F	ENSP00000358727:L126F	L	+	3	2	GSTO1	106012738	0.992000	0.36948	0.229000	0.23960	0.146000	0.21551	3.396000	0.52565	2.660000	0.90430	0.655000	0.94253	TTG		PASS	0.373	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		15	13	15	13	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108448089	108448089	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr10:108448089C>T	ENST00000263054.6	-	10	1428	c.1421G>A	c.(1420-1422)gGg>gAg	p.G474E	SORCS1_ENST00000369698.1_Missense_Mutation_p.G9E|SORCS1_ENST00000344440.6_Missense_Mutation_p.G474E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	474					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.G474E(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCCTTTATCCCTGCTACCTG	0.398																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1420-1422)GGG>GAG		SORCS receptor 1 isoform a							79.0	72.0	75.0					10																	108448089		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108448089C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1421G>A	10.37:g.108448089C>T	ENSP00000263054:p.Gly474Glu					SORCS1_uc001kyl.2_Missense_Mutation_p.G474E|SORCS1_uc009xxs.2_Missense_Mutation_p.G474E|SORCS1_uc001kyn.1_Missense_Mutation_p.G474E|SORCS1_uc001kyo.2_Missense_Mutation_p.G474E	p.G474E	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	10	1429	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	474			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1421G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892117	0.91889	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.51071	0.72;0.72;0.72	6.17	6.17	0.99709	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	M	0.90814	3.15	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.78679	-0.2110	9	.	.	.	-24.9847	20.8794	0.99867	0.0:1.0:0.0:0.0	.	474;474;474;474;474	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	E	9;474;474	ENSP00000358712:G9E;ENSP00000263054:G474E;ENSP00000345964:G474E	.	G	-	2	0	SORCS1	108438079	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.400000	0.79949	2.941000	0.99782	0.655000	0.94253	GGG		PASS	0.398	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		5	14	5	14	---	---	---	---
CCDC172	374355	broad.mit.edu	37	10	118101585	118101585	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr10:118101585A>T	ENST00000333254.3	+	5	571	c.320A>T	c.(319-321)aAa>aTa	p.K107I	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	107								p.K107I(1)									GAGGAAGACAAATTTATTAAG	0.249																																						uc001lck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(319-321)AAA>ATA		hypothetical protein LOC374355							31.0	36.0	34.0					10																	118101585		2152	4244	6396	SO:0001583	missense	374355							g.chr10:118101585A>T	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.320A>T	10.37:g.118101585A>T	ENSP00000329860:p.Lys107Ile						p.K107I	NM_198515	NP_940917	P0C7W6	CJ096_HUMAN		all cancers(201;0.014)	5	571	+		Lung NSC(174;0.204)|all_lung(145;0.248)	107						Missense_Mutation	SNP	ENST00000333254.3	37	c.320A>T	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601749	0.46423	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	0.436	0.16549	.	0.374168	0.26684	N	0.023030	T	0.52757	0.1754	M	0.63843	1.955	0.26959	N	0.96585	P	0.41188	0.741	P	0.50934	0.654	T	0.51434	-0.8706	9	0.87932	D	0	-17.14	9.73	0.40355	0.7145:0.0:0.2855:0.0	.	107	P0C7W6	CJ096_HUMAN	I	107	.	ENSP00000329860:K107I	K	+	2	0	C10orf96	118091575	0.994000	0.37717	0.986000	0.45419	0.261000	0.26267	1.219000	0.32479	0.115000	0.18071	-0.274000	0.10170	AAA		PASS	0.249	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		10	18	10	18	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1099773	1099773	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:1099773G>A	ENST00000441003.2	+	40	7397	c.7370G>A	c.(7369-7371)gGa>gAa	p.G2457E		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4819					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.G2457E(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGCTGTGTGGGACCTGACAAT	0.572																																						uc001lsx.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(14455-14457)GGA>GAA		mucin 2 precursor	Pranlukast(DB01411)						141.0	153.0	149.0					11																	1099773		2083	4207	6290	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1099773G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7370G>A	11.37:g.1099773G>A	ENSP00000415183:p.Gly2457Glu						p.G4819E	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	43	14483	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4819			VWFC 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.14456G>A		.	.	.	.	.	.	.	.	.	.	G	9.662	1.144319	0.21205	.	.	ENSG00000198788	ENST00000441003	T	0.55413	0.52	3.93	2.95	0.34219	.	.	.	.	.	T	0.70527	0.3234	M	0.85462	2.755	0.21553	N	0.999646	D	0.89917	1.0	D	0.67103	0.949	T	0.59064	-0.7524	9	0.30078	T	0.28	.	10.8366	0.46690	0.0:0.1907:0.8093:0.0	.	2457	E7EUV1	.	E	2457	ENSP00000415183:G2457E	ENSP00000415183:G2457E	G	+	2	0	MUC2	1089773	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	3.615000	0.54167	1.755000	0.51935	0.484000	0.47621	GGA		PASS	0.572	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		31	61	31	61	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1263589	1263589	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:1263589A>G	ENST00000529681.1	+	31	5537	c.5479A>G	c.(5479-5481)Agc>Ggc	p.S1827G	MUC5B_ENST00000447027.1_Missense_Mutation_p.S1830G|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1827	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S1827G(1)|p.S1830G(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCACCAAAGAGCATAGAGTG	0.597																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(7558-7560)AGC>GGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							54.0	65.0	61.0					11																	1263589		2053	4194	6247	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263589A>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5479A>G	11.37:g.1263589A>G	ENSP00000436812:p.Ser1827Gly					MUC5B_uc001ltb.2_Missense_Mutation_p.S1830G	p.S2520G	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	7684	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1827			7 X Cys-rich subdomain repeats.|Thr-rich.|Cys-rich subdomain 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7558A>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	a	11.39	1.625699	0.28889	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17054	2.3;2.3	4.64	-9.29	0.00653	.	.	.	.	.	T	0.04137	0.0115	N	0.01048	-1.04	0.09310	N	1	B;B	0.23735	0.047;0.09	B;B	0.21151	0.018;0.033	T	0.50915	-0.8771	9	0.87932	D	0	.	5.9899	0.19454	0.0877:0.296:0.4686:0.1477	.	2520;1830	A7Y9J9;E9PBJ0	.;.	G	1827;1830;1828;1897	ENSP00000436812:S1827G;ENSP00000415793:S1830G	ENSP00000343037:S1828G	S	+	1	0	MUC5B	1220165	0.000000	0.05858	0.000000	0.03702	0.327000	0.28475	-1.446000	0.02398	-3.148000	0.00231	-0.967000	0.02615	AGC		PASS	0.597	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		25	17	25	17	---	---	---	---
CHRNA10	57053	broad.mit.edu	37	11	3691059	3691059	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:3691059G>A	ENST00000250699.2	-	2	245	c.174C>T	c.(172-174)acC>acT	p.T58T	CHRNA10_ENST00000534359.1_5'UTR|CHRNA10_ENST00000493827.2_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	58					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)	p.T58T(1)		breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	TCACCTCCAGGGTCACATTCA	0.552																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(172-174)ACC>ACT		cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						221.0	166.0	185.0					11																	3691059		2201	4298	6499	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3691059G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.174C>T	11.37:g.3691059G>A						CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	p.T58T	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	246	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	58			Extracellular (Potential).			Silent	SNP	ENST00000250699.2	37	c.174C>T	CCDS7745.1																																																																																				PASS	0.552	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			15	48	15	48	---	---	---	---
OR52K2	119774	broad.mit.edu	37	11	4471324	4471324	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:4471324C>G	ENST00000325719.4	+	1	800	c.755C>G	c.(754-756)gCc>gGc	p.A252G		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A252G(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATCTTAGCCTTCTACACA	0.493																																						uc001lyz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(754-756)GCC>GGC		olfactory receptor, family 52, subfamily K,							244.0	214.0	225.0					11																	4471324		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4471324C>G	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.755C>G	11.37:g.4471324C>G	ENSP00000318956:p.Ala252Gly						p.A252G	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	755	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	252			Helical; Name=6; (Potential).		A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.755C>G	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	C	8.133	0.783614	0.16189	.	.	ENSG00000181963	ENST00000325719	T	0.00169	8.63	4.16	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.141093	0.32372	N	0.006194	T	0.00328	0.0010	M	0.76727	2.345	0.22803	N	0.998719	B	0.32409	0.37	P	0.44597	0.454	T	0.11916	-1.0568	10	0.66056	D	0.02	.	9.1158	0.36758	0.0:0.8965:0.0:0.1035	.	252	Q8NGK3	O52K2_HUMAN	G	252	ENSP00000318956:A252G	ENSP00000318956:A252G	A	+	2	0	OR52K2	4427900	0.000000	0.05858	0.990000	0.47175	0.026000	0.11368	0.974000	0.29436	2.152000	0.67230	0.586000	0.80456	GCC		PASS	0.493	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		34	99	34	99	---	---	---	---
MMP26	56547	broad.mit.edu	37	11	4903114	4903114	+	Intron	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:4903114G>A	ENST00000380390.1	+	2	72				OR51T1_ENST00000380378.1_Silent_p.Q22Q|OR51T1_ENST00000322049.1_5'Flank|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q22Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TCATAGTTCAGTGTCTTCAAC	0.323																																						uc010qyp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(64-66)CAG>CAA		olfactory receptor, family 51, subfamily T,							113.0	93.0	100.0					11																	4903114		2201	4298	6499	SO:0001627	intron_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903114G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.-144-106184G>A	11.37:g.4903114G>A							p.Q22Q	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	66	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Error:Variant_position_missing_in_Q8NGJ9_after_alignment					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.66G>A	CCDS7752.1																																																																																				PASS	0.323	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		24	18	24	18	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7981729	7981729	+	Missense_Mutation	SNP	G	G	C	rs77351963		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:7981729G>C	ENST00000328600.2	-	2	1591	c.1430C>G	c.(1429-1431)tCt>tGt	p.S477C		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	477	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.S477C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCAGGTAAGACATGGCATG	0.517																																						uc001mfv.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(1429-1431)TCT>TGT		NLR family, pyrin domain containing 10							96.0	103.0	101.0					11																	7981729		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7981729G>C	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1430C>G	11.37:g.7981729G>C	ENSP00000327763:p.Ser477Cys						p.S477C	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1447	-			477			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1430C>G	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518694	0.27211	.	.	ENSG00000182261	ENST00000328600	D	0.88586	-2.4	4.73	0.474	0.16768	.	0.000000	0.38326	N	0.001731	D	0.90614	0.7057	M	0.72353	2.195	0.23913	N	0.99649	D	0.71674	0.998	D	0.68483	0.958	T	0.80652	-0.1287	10	0.72032	D	0.01	.	2.9273	0.05788	0.3199:0.0:0.4824:0.1977	.	477	Q86W26	NAL10_HUMAN	C	477	ENSP00000327763:S477C	ENSP00000327763:S477C	S	-	2	0	NLRP10	7938305	1.000000	0.71417	0.958000	0.39756	0.051000	0.14879	1.913000	0.39956	0.547000	0.28938	-0.251000	0.11542	TCT		PASS	0.517	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		30	62	30	62	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9875089	9875089	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:9875089G>T	ENST00000256190.8	-	20	2671	c.2534C>A	c.(2533-2535)cCa>cAa	p.P845Q	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	845					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P845Q(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTGATTACCTGGTATCATGCA	0.388																																						uc001mib.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2533-2535)CCA>CAA		SET binding factor 2							131.0	122.0	125.0					11																	9875089		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9875089G>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2534C>A	11.37:g.9875089G>T	ENSP00000256190:p.Pro845Gln					SBF2_uc001mif.3_Missense_Mutation_p.P601Q|uc001mig.2_Intron	p.P845Q	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	20	2672	-			845					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2534C>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147008	0.94603	.	.	ENSG00000133812	ENST00000256190	D	0.86694	-2.16	5.54	5.54	0.83059	.	0.047292	0.85682	D	0.000000	D	0.93507	0.7928	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92986	0.6410	10	0.52906	T	0.07	.	19.8328	0.96642	0.0:0.0:1.0:0.0	.	845	Q86WG5	MTMRD_HUMAN	Q	845	ENSP00000256190:P845Q	ENSP00000256190:P845Q	P	-	2	0	SBF2	9831665	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.813000	0.99286	2.758000	0.94735	0.591000	0.81541	CCA		PASS	0.388	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		4	47	4	47	---	---	---	---
USP47	55031	broad.mit.edu	37	11	11977671	11977671	+	Silent	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:11977671A>G	ENST00000399455.2	+	29	4197	c.4077A>G	c.(4075-4077)gcA>gcG	p.A1359A	USP47_ENST00000339865.5_Silent_p.A1271A|USP47_ENST00000539466.1_Silent_p.A141A|USP47_ENST00000527733.1_Silent_p.A1339A|USP47_ENST00000305481.6_3'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1359					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.A1271A(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AAGAGAAAGCACTAAAAATAT	0.383																																						uc001mjs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(4015-4017)GCA>GCG		ubiquitin specific protease 47							100.0	96.0	97.0					11																	11977671		1840	4095	5935	SO:0001819	synonymous_variant	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11977671A>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.4077A>G	11.37:g.11977671A>G						USP47_uc001mjr.2_Silent_p.A1271A|USP47_uc009ygi.2_Silent_p.A141A	p.A1339A	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	28	4780	+			1359					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	37	c.4017A>G																																																																																					PASS	0.383	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		30	51	30	51	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	21596535	21596535	+	Silent	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:21596535T>C	ENST00000357134.5	+	20	2552	c.2400T>C	c.(2398-2400)tgT>tgC	p.C800C	NELL1_ENST00000298925.5_Silent_p.C828C|NELL1_ENST00000532434.1_Silent_p.C753C|NELL1_ENST00000325319.5_Silent_p.C743C|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	800					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.C800C(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAGTCTGTTGTTCTGTGGATT	0.358																																						uc001mqe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2398-2400)TGT>TGC		nel-like 1 isoform 1 precursor							186.0	167.0	173.0					11																	21596535		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21596535T>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2400T>C	11.37:g.21596535T>C						NELL1_uc001mqf.2_Silent_p.C753C|NELL1_uc009yid.2_Silent_p.C828C|NELL1_uc010rdo.1_Silent_p.C743C|NELL1_uc010rdp.1_Silent_p.C513C|NELL1_uc001mqh.2_Silent_p.C345C	p.C800C	NM_006157	NP_006148	Q92832	NELL1_HUMAN			20	2553	+			800			VWFC 5.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.2400T>C	CCDS7855.1																																																																																				PASS	0.358	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		11	19	11	19	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32955081	32955081	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:32955081A>C	ENST00000399302.2	+	4	2225	c.1890A>C	c.(1888-1890)aaA>aaC	p.K630N	QSER1_ENST00000527788.1_Missense_Mutation_p.K391N	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	630								p.K630N(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AAGCATCAAAAAAAGAAGAAA	0.373																																						uc001mty.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1888-1890)AAA>AAC		glutamine and serine rich 1							84.0	81.0	82.0					11																	32955081		1850	4092	5942	SO:0001583	missense	79832							g.chr11:32955081A>C	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1890A>C	11.37:g.32955081A>C	ENSP00000382241:p.Lys630Asn					QSER1_uc001mtz.1_Missense_Mutation_p.K391N|QSER1_uc001mua.2_Missense_Mutation_p.K135N	p.K630N	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	2157	+	Breast(20;0.158)		630					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.1890A>C	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	A	5.624	0.299766	0.10622	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.26660	2.06;1.72	5.01	1.3	0.21679	.	0.162441	0.41294	N	0.000908	T	0.23572	0.0570	L	0.32530	0.975	0.30207	N	0.798121	P;B;B	0.46142	0.873;0.003;0.001	P;B;B	0.49047	0.599;0.004;0.002	T	0.11446	-1.0587	10	0.45353	T	0.12	.	8.1481	0.31124	0.7521:0.1149:0.133:0.0	.	391;391;630	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	N	630;391;391	ENSP00000382241:K630N;ENSP00000432766:K391N	ENSP00000078652:K391N	K	+	3	2	QSER1	32911657	1.000000	0.71417	0.891000	0.34965	0.125000	0.20455	1.845000	0.39279	-0.212000	0.10109	-2.731000	0.00129	AAA		PASS	0.373	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		17	43	17	43	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33565884	33565884	+	Splice_Site	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:33565884T>A	ENST00000321505.4	+	1	2062		c.e1+2		KIAA1549L_ENST00000265654.5_Silent_p.G628G|KIAA1549L_ENST00000389726.3_Silent_p.G628G			Q6ZVL6	K154L_HUMAN	KIAA1549-like							integral component of membrane (GO:0016021)		p.G628G(1)|p.?(1)									AATGGACAGGTGCAGCCACTA	0.507																																						uc001mup.3																			2	Unknown(1)|Substitution - coding silent(1)		lung(2)	ovary(2)	2						c.(1882-1884)GGT>GGA		hypothetical protein LOC25758							76.0	79.0	78.0					11																	33565884		1918	4107	6025	SO:0001630	splice_region_variant	25758					integral to membrane		g.chr11:33565884T>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1882+2T>A	11.37:g.33565884T>A						C11orf41_uc001mun.1_Silent_p.G628G	p.G628G	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	2008	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B0QYU0	Silent	SNP	ENST00000321505.4	37	c.1884T>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320913	0.60634	.	.	ENSG00000110427	ENST00000321505;ENST00000536568	.	.	.	5.7	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8039	0.40781	0.0:0.0771:0.0:0.9229	.	.	.	.	.	-1	.	.	.	+	.	.	C11orf41	33522460	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.310000	0.33551	2.172000	0.68678	0.363000	0.22086	.		PASS	0.507	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	Intron	14	20	14	20	---	---	---	---
RAG2	5897	broad.mit.edu	37	11	36615574	36615574	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:36615574C>G	ENST00000311485.3	-	2	306	c.145G>C	c.(145-147)Gat>Cat	p.D49H	C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000334307.5_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	49					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|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)|zinc ion binding (GO:0008270)	p.D49H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGCTTTACATCCAGATGGAAA	0.458									Familial Hemophagocytic Lymphohistiocytosis																													uc001mwv.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(145-147)GAT>CAT		recombination activating gene 2							110.0	114.0	113.0					11																	36615574		2202	4298	6500	SO:0001583	missense	5897	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36615574C>G	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.145G>C	11.37:g.36615574C>G	ENSP00000308620:p.Asp49His					C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	p.D49H	NM_000536	NP_000527	P55895	RAG2_HUMAN			2	333	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	49					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.145G>C	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609496	0.28623	.	.	ENSG00000175097	ENST00000311485;ENST00000529083;ENST00000527033	D;D;D	0.90385	-1.61;-1.62;-2.66	5.7	5.7	0.88788	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.176544	0.49305	D	0.000141	D	0.87985	0.6316	N	0.14661	0.345	0.52099	D	0.99994	D	0.53151	0.958	P	0.50791	0.65	D	0.87449	0.2400	10	0.33940	T	0.23	-0.0864	19.8349	0.96652	0.0:1.0:0.0:0.0	.	49	P55895	RAG2_HUMAN	H	49	ENSP00000308620:D49H;ENSP00000436327:D49H;ENSP00000436895:D49H	ENSP00000308620:D49H	D	-	1	0	RAG2	36572150	1.000000	0.71417	0.996000	0.52242	0.020000	0.10135	4.063000	0.57499	2.691000	0.91804	0.557000	0.71058	GAT		PASS	0.458	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		16	36	16	36	---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44102744	44102744	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:44102744G>T	ENST00000263776.8	+	12	1419	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	329					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.G329W(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CGGGATGTCTGGGCTCCGCTT	0.627																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(985-987)GGG>TGG		1-aminocyclopropane-1-carboxylate synthase							96.0	91.0	93.0					11																	44102744		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44102744G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.985G>T	11.37:g.44102744G>T	ENSP00000263776:p.Gly329Trp					EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.G329W	p.G329W	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			12	1129	+			329					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.985G>T	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.325074	0.60634	.	.	ENSG00000110455	ENST00000263776	D	0.97575	-4.44	5.31	5.31	0.75309	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99016	1.0816	10	0.87932	D	0	-26.8465	18.5751	0.91151	0.0:0.0:1.0:0.0	.	329	Q96QU6	1A1L1_HUMAN	W	329	ENSP00000263776:G329W	ENSP00000263776:G329W	G	+	1	0	ACCS	44059320	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	9.245000	0.95431	2.495000	0.84180	0.655000	0.94253	GGG		PASS	0.627	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		20	51	20	51	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328449	48328449	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:48328449C>T	ENST00000319988.1	+	1	675	c.675C>T	c.(673-675)agC>agT	p.S225S		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S225S(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACCTAAGAAGCCAGTCATCTG	0.458																																						uc010rhu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(673-675)AGC>AGT		olfactory receptor, family 4, subfamily S,							192.0	172.0	179.0					11																	48328449		2201	4298	6499	SO:0001819	synonymous_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328449C>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.675C>T	11.37:g.48328449C>T							p.S225S	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			1	675	+			225			Cytoplasmic (Potential).		Q6IFB4	Silent	SNP	ENST00000319988.1	37	c.675C>T	CCDS31488.1																																																																																				PASS	0.458	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		66	30	66	30	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55111277	55111278	+	Missense_Mutation	DNP	GG	GG	TT	rs141072345		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:55111277_55111278GG>TT	ENST00000314721.2	+	1	651_652	c.601_602GG>TT	c.(601-603)GGt>TTt	p.G201F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G201C(1)|p.G201F(1)|p.G201V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGTTGCCAATGGTGGAATAATT	0.431																																						uc010rie.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|pancreas(1)	3						c.(601-603)GGT>TGT|c.(601-603)GGT>GTT		olfactory receptor, family 4, subfamily A,																																				SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111277G>T|g.chr11:55111278G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	Exception_encountered	11.37:g.55111277_55111278delinsTT	ENSP00000325128:p.Gly201Phe						p.G201C|p.G201V	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	601|602	+			201			Helical; Name=5; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.601G>T|c.602G>T	CCDS31499.1																																																																																				PASS	0.431	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		19	81|80	19	80	---	---	---	---
OR4C15	81309	broad.mit.edu	37	11	55322667	55322667	+	Silent	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:55322667T>A	ENST00000314644.2	+	1	885	c.885T>A	c.(883-885)tcT>tcA	p.S295S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S295S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCTGTGGATCTCACATTGCTG	0.428										HNSCC(20;0.049)																												uc010rig.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(883-885)TCT>TCA		olfactory receptor, family 4, subfamily C,							236.0	225.0	229.0					11																	55322667		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322667T>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.885T>A	11.37:g.55322667T>A		HNSCC(20;0.049)					p.S295S	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	885	+			241			Helical; Name=6; (Potential).		Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.885T>A	CCDS31501.1																																																																																				PASS	0.428	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		37	78	37	78	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62259292	62259292	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:62259292C>T	ENST00000257247.7	-	5	589	c.354G>A	c.(352-354)caG>caA	p.Q118Q	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000530124.1_Intron	NM_024060.2	NP_076965.2	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	0					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.Q118Q(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTGCTGATGGCTGTGGTGTGT	0.453																																						uc001ntk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(352-354)CAG>CAA		AHNAK nucleoprotein isoform 2							123.0	121.0	122.0					11																	62259292		2033	4188	6221	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62259292C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000257247.7:c.354G>A	11.37:g.62259292C>T							p.Q118Q	NM_024060	NP_076965	Q09666	AHNK_HUMAN			5	654	-		Melanoma(852;0.155)	Error:Variant_position_missing_in_Q09666_after_alignment					A1A586	Silent	SNP	ENST00000257247.7	37	c.354G>A	CCDS44625.1																																																																																				PASS	0.453	AHNAK-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395014.1	NM_024060		4	14	4	14	---	---	---	---
TUT1	64852	broad.mit.edu	37	11	62349016	62349017	+	Missense_Mutation	DNP	GG	GG	AA	rs533930379		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:62349016_62349017GG>AA	ENST00000476907.1	-	3	1121_1122	c.430_431CC>TT	c.(430-432)CCc>TTc	p.P144F	MIR3654_ENST00000496634.2_Missense_Mutation_p.P144F|TUT1_ENST00000308436.7_Missense_Mutation_p.P182F			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	144					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.P182F(1)|p.P144S(1)|p.P182L(1)|p.P182S(1)|p.P144L(1)|p.P144F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTGACTGTCGGGGGCCGCTCCT	0.649																																						uc001nto.2																			6	Substitution - Missense(6)		lung(6)	central_nervous_system(1)|skin(1)	2						c.(544-546)CCC>CTC|c.(544-546)CCC>TCC		terminal uridylyl transferase 1, U6																																				SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62349016G>A|g.chr11:62349017G>A	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.430_431delinsAA	11.37:g.62349016_62349017delinsAA	ENSP00000419607:p.Pro144Phe						p.P182L|p.P182S	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			3	583|582	-			144					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.545C>T|c.544C>T																																																																																					PASS	0.649	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		28	10	28	10	---	---	---	---
NXF1	10482	broad.mit.edu	37	11	62568576	62568576	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:62568576G>C	ENST00000532297.1	-	10	1525	c.896C>G	c.(895-897)tCt>tGt	p.S299C	NXF1_ENST00000294172.2_Missense_Mutation_p.S299C|NXF1_ENST00000531709.2_Missense_Mutation_p.S299C|NXF1_ENST00000531131.1_Missense_Mutation_p.S162C|NXF1_ENST00000439713.2_Missense_Mutation_p.S299C			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	299					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S299C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCATTTCCAGAAAGGTTTAG	0.458																																						uc001nvf.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(895-897)TCT>TGT		nuclear RNA export factor 1 isoform 1							93.0	86.0	89.0					11																	62568576		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62568576G>C	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.896C>G	11.37:g.62568576G>C	ENSP00000436679:p.Ser299Cys					NXF1_uc001nvg.1_Missense_Mutation_p.S299C|NXF1_uc009yog.1_Missense_Mutation_p.S342C|NXF1_uc010rmh.1_Missense_Mutation_p.S162C	p.S299C	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			9	1032	-			299			LRR 2.|Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.896C>G	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547936	0.65311	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	4.43	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	D	0.85949	0.1463	10	0.87932	D	0	-10.6184	12.3348	0.55060	0.0:0.172:0.828:0.0	.	162;342;312;299	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	C	299;299;342;299	ENSP00000294172:S299C;ENSP00000436679:S299C;ENSP00000435742:S342C;ENSP00000408864:S299C	ENSP00000294172:S299C	S	-	2	0	NXF1	62325152	1.000000	0.71417	0.982000	0.44146	0.970000	0.65996	9.015000	0.93640	1.182000	0.42928	0.655000	0.94253	TCT		PASS	0.458	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		19	12	19	12	---	---	---	---
KCNK4	50801	broad.mit.edu	37	11	64064613	64064613	+	Silent	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:64064613C>A	ENST00000539216.1	+	3	696	c.336C>A	c.(334-336)cgC>cgA	p.R112R	Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000538767.1_Missense_Mutation_p.A46E|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_Silent_p.R112R|KCNK4_ENST00000422670.2_Silent_p.R112R			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	112					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R112R(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						TGGCCCTGCGCACAGATGCCG	0.652																																						uc001nzj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)CGC>CGA		TRAAK							46.0	52.0	50.0					11																	64064613		2201	4297	6498	SO:0001819	synonymous_variant	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64064613C>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.336C>A	11.37:g.64064613C>A						KCNK4_uc009ypl.1_Missense_Mutation_p.A85E|KCNK4_uc001nzk.1_Missense_Mutation_p.A46E|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.A46E|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Silent_p.R112R|KCNK4_uc001nzo.2_Silent_p.R112R|KCNK4_uc001nzp.1_5'UTR	p.R112R	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN			4	659	+			112					B5TJL1|Q96T94	Silent	SNP	ENST00000539216.1	37	c.336C>A	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368992	0.42003	.	.	ENSG00000182450	ENST00000538767	.	.	.	5.25	3.39	0.38822	.	.	.	.	.	T	0.52306	0.1726	.	.	.	0.80722	D	1	P;P	0.50617	0.937;0.867	P;P	0.48270	0.572;0.463	T	0.52734	-0.8536	7	0.87932	D	0	.	5.6473	0.17596	0.0:0.6623:0.1617:0.176	.	85;46	B4DJC9;F5GYE0	.;.	E	46	.	ENSP00000446454:A46E	A	+	2	0	KCNK4	63821189	0.983000	0.35010	0.991000	0.47740	0.992000	0.81027	0.315000	0.19451	0.610000	0.30035	-0.266000	0.10368	GCA		PASS	0.652	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		15	11	15	11	---	---	---	---
FCHSD2	9873	broad.mit.edu	37	11	72598570	72598570	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:72598570C>A	ENST00000409418.4	-	12	1474	c.1091G>T	c.(1090-1092)cGa>cTa	p.R364L	FCHSD2_ENST00000311172.7_Missense_Mutation_p.R308L|FCHSD2_ENST00000409314.1_Missense_Mutation_p.R388L|FCHSD2_ENST00000409853.1_Missense_Mutation_p.R308L|FCHSD2_ENST00000458644.2_Missense_Mutation_p.R228L	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	364								p.R364L(1)|p.R308L(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TAGCTCTGCTCGGCTTTGTTC	0.383																																						uc009ytl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1090-1092)CGA>CTA		FCH and double SH3 domains 2							227.0	201.0	210.0					11																	72598570		2200	4293	6493	SO:0001583	missense	9873						protein binding	g.chr11:72598570C>A	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1091G>T	11.37:g.72598570C>A	ENSP00000386722:p.Arg364Leu					FCHSD2_uc010rrg.1_Missense_Mutation_p.R228L|FCHSD2_uc001oth.3_Missense_Mutation_p.R308L|FCHSD2_uc001oti.2_Missense_Mutation_p.R323L	p.R364L	NM_014824	NP_055639	O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		12	1312	-			364			Potential.		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	c.1091G>T	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756035	0.31137	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.44482	2.5;2.63;2.63;2.52;0.92	5.03	5.03	0.67393	.	0.326644	0.30302	N	0.009922	T	0.38214	0.1032	L	0.41236	1.265	0.51482	D	0.999928	P;P;P	0.49961	0.93;0.826;0.891	B;B;B	0.43754	0.414;0.247;0.43	T	0.10222	-1.0639	10	0.27082	T	0.32	-3.6712	16.2047	0.82120	0.0:1.0:0.0:0.0	.	228;364;308	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	L	308;388;364;228;308	ENSP00000308978:R308L;ENSP00000386987:R388L;ENSP00000386722:R364L;ENSP00000402972:R228L;ENSP00000386314:R308L	ENSP00000308978:R308L	R	-	2	0	FCHSD2	72276218	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.464000	0.60134	2.505000	0.84491	0.563000	0.77884	CGA		PASS	0.383	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		26	72	26	72	---	---	---	---
CCDC83	220047	broad.mit.edu	37	11	85576208	85576208	+	Missense_Mutation	SNP	C	C	A	rs199934074		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:85576208C>A	ENST00000342404.3	+	2	258	c.42C>A	c.(40-42)gaC>gaA	p.D14E	CCDC83_ENST00000376067.1_5'UTR|CCDC83_ENST00000280245.4_Missense_Mutation_p.D14E			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	14								p.D14E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATACACATGACGGGCCACCAA	0.368																																						uc001pbh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(40-42)GAC>GAA		coiled-coil domain containing 83							141.0	143.0	143.0					11																	85576208		2203	4299	6502	SO:0001583	missense	220047							g.chr11:85576208C>A	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.42C>A	11.37:g.85576208C>A	ENSP00000344512:p.Asp14Glu					CCDC83_uc001pbg.1_Missense_Mutation_p.D14E	p.D14E	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			2	554	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	14					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.42C>A		.	.	.	.	.	.	.	.	.	.	C	10.53	1.376993	0.24857	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	T;T	0.46451	0.87;0.9	4.75	2.23	0.28157	.	0.818616	0.10962	N	0.614841	T	0.31199	0.0789	L	0.43701	1.375	0.09310	N	0.999999	B;B	0.21147	0.021;0.052	B;B	0.22386	0.018;0.039	T	0.24261	-1.0165	9	.	.	.	-1.3119	4.6484	0.12584	0.1677:0.0983:0.0:0.7341	.	14;14	Q8IWF9;Q8IWF9-2	CCD83_HUMAN;.	E	14	ENSP00000280245:D14E;ENSP00000344512:D14E	.	D	+	3	2	CCDC83	85253856	0.001000	0.12720	0.002000	0.10522	0.062000	0.15995	0.041000	0.13927	0.756000	0.33013	-0.414000	0.06135	GAC		PASS	0.368	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		50	160	50	160	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780921	88780921	+	Silent	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:88780921G>C	ENST00000305447.4	-	1	269	c.120C>G	c.(118-120)ctC>ctG	p.L40L	GRM5_ENST00000418177.2_Silent_p.L40L|GRM5_ENST00000455756.2_Silent_p.L40L|GRM5_ENST00000305432.5_Silent_p.L40L|GRM5_ENST00000393297.1_Silent_p.L40L|GRM5_ENST00000393294.3_Silent_p.L40L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	40					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.L40L(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GAACAGAAAAGAGAGCTCCAA	0.517																																						uc001pcq.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(118-120)CTC>CTG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						68.0	63.0	65.0					11																	88780921		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780921G>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.120C>G	11.37:g.88780921G>C						GRM5_uc009yvm.2_Silent_p.L40L|GRM5_uc009yvn.1_Silent_p.L40L	p.L40L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	320	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	40			Extracellular (Potential).		Q6J164	Silent	SNP	ENST00000305447.4	37	c.120C>G	CCDS44694.1																																																																																				PASS	0.517	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		11	20	11	20	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087130	92087130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:92087130G>T	ENST00000298047.6	+	1	1869	c.1852G>T	c.(1852-1854)Gga>Tga	p.G618*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.G618*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.G618*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.G468*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G618*(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATCATTTCTGGAAATGAACT	0.363										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1852-1854)GGA>TGA		FAT tumor suppressor homolog 3							38.0	38.0	38.0					11																	92087130		1841	4085	5926	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087130G>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.1852G>T	11.37:g.92087130G>T	ENSP00000298047:p.Gly618*	TCGA Ovarian(4;0.039)					p.G618*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	1869	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	618			Cadherin 6.|Extracellular (Potential).		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.1852G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.902597	0.98551	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8971	0.92427	0.0:0.0:1.0:0.0	.	.	.	.	X	618;618;618;468	.	ENSP00000298047:G618X	G	+	1	0	FAT3	91726778	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.787000	0.99055	2.709000	0.92574	0.591000	0.81541	GGA		PASS	0.363	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	13	11	13	---	---	---	---
PANX1	24145	broad.mit.edu	37	11	93911564	93911564	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:93911564G>A	ENST00000227638.3	+	3	736	c.351G>A	c.(349-351)gcG>gcA	p.A117A	PANX1_ENST00000436171.2_Silent_p.A117A	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	117					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)	p.A117A(1)		endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TGCTCTTTGCGATCCTCCTGT	0.473																																						uc001per.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(349-351)GCG>GCA		pannexin 1							179.0	134.0	149.0					11																	93911564		2201	4298	6499	SO:0001819	synonymous_variant	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93911564G>A	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.351G>A	11.37:g.93911564G>A						PANX1_uc001peq.2_Silent_p.A117A	p.A117A	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN			3	736	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	117			Helical; (Potential).		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Silent	SNP	ENST00000227638.3	37	c.351G>A	CCDS8296.1																																																																																				PASS	0.473	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		27	14	27	14	---	---	---	---
AASDHPPT	60496	broad.mit.edu	37	11	105948587	105948587	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:105948587G>A	ENST00000278618.4	+	1	372	c.150G>A	c.(148-150)caG>caA	p.Q50Q	KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank|KBTBD3_ENST00000531837.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	50					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.Q50Q(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GCATTGGCCAGTTCGTCTTTG	0.607																																						uc001pjc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(148-150)CAG>CAA		aminoadipate-semialdehyde							94.0	99.0	97.0					11																	105948587		2201	4299	6500	SO:0001819	synonymous_variant	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105948587G>A	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.150G>A	11.37:g.105948587G>A						KBTBD3_uc001pja.2_5'Flank|KBTBD3_uc001pjb.2_5'Flank|KBTBD3_uc009yxm.2_5'Flank|AASDHPPT_uc010rvn.1_RNA	p.Q50Q	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	1	296	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	50					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Silent	SNP	ENST00000278618.4	37	c.150G>A	CCDS31664.1																																																																																				PASS	0.607	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		12	24	12	24	---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107959295	107959295	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:107959295T>A	ENST00000393094.2	+	12	1836	c.1220T>A	c.(1219-1221)cTg>cAg	p.L407Q		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	407					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.L407Q(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGCCCTGAGCTGCTTGCCAAT	0.333																																						uc001pjv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1219-1221)CTG>CAG		Vasopressin-activated calcium-mobilizing							88.0	90.0	89.0					11																	107959295		2201	4298	6499	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107959295T>A	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1220T>A	11.37:g.107959295T>A	ENSP00000376808:p.Leu407Gln					CUL5_uc001pju.2_RNA	p.L407Q	NM_003478	NP_003469	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	12	1887	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	407					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.1220T>A	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421587	0.83559	.	.	ENSG00000166266	ENST00000393094	T	0.78126	-1.15	4.86	4.86	0.63082	Cullin, N-terminal (1);Cullin homology (2);	0.000000	0.64402	D	0.000001	D	0.89736	0.6801	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91947	0.5568	10	0.87932	D	0	-4.7083	14.4651	0.67477	0.0:0.0:0.0:1.0	.	407	Q93034	CUL5_HUMAN	Q	407	ENSP00000376808:L407Q	ENSP00000376808:L407Q	L	+	2	0	CUL5	107464505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.948000	0.87774	1.805000	0.52779	0.533000	0.62120	CTG		PASS	0.333	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			13	38	13	38	---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117150919	117150919	+	Silent	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:117150919G>T	ENST00000531452.1	+	8	1135	c.1089G>T	c.(1087-1089)ctG>ctT	p.L363L	RNF214_ENST00000531287.1_Silent_p.L208L|RNF214_ENST00000530849.1_Silent_p.L208L|RNF214_ENST00000300650.4_Silent_p.L363L	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	363							zinc ion binding (GO:0008270)	p.L363L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AAGAGTTACTGGTACTGAAAC	0.368																																						uc001pqt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1087-1089)CTG>CTT		ring finger protein 214							148.0	138.0	141.0					11																	117150919		1828	4100	5928	SO:0001819	synonymous_variant	257160						zinc ion binding	g.chr11:117150919G>T	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1089G>T	11.37:g.117150919G>T						RNF214_uc001pqu.2_Silent_p.L363L|RNF214_uc010rxf.1_Silent_p.L208L	p.L363L	NM_207343	NP_997226	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	8	1134	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	363			Potential.		B2RUW0|B4DTD1	Silent	SNP	ENST00000531452.1	37	c.1089G>T	CCDS41720.1																																																																																				PASS	0.368	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		7	156	7	156	---	---	---	---
IL10RA	3587	broad.mit.edu	37	11	117869931	117869931	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:117869931C>T	ENST00000227752.3	+	7	1432	c.1312C>T	c.(1312-1314)Cca>Tca	p.P438S	IL10RA_ENST00000541785.1_Missense_Mutation_p.P418S|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.P289S	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	438					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.P438S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGAAGAAGACCCAGCTGCTGT	0.607																																						uc001prv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1312-1314)CCA>TCA		interleukin 10 receptor, alpha precursor							71.0	71.0	71.0					11																	117869931		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117869931C>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.1312C>T	11.37:g.117869931C>T	ENSP00000227752:p.Pro438Ser					IL10RA_uc010rxl.1_Missense_Mutation_p.P418S|IL10RA_uc010rxm.1_Missense_Mutation_p.P418S|IL10RA_uc010rxn.1_Missense_Mutation_p.P289S|IL10RA_uc001prw.2_Missense_Mutation_p.P289S	p.P438S	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	7	1389	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	438			Cytoplasmic (Potential).		A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.1312C>T	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545089	0.27652	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.20463	2.07;2.07;2.07	5.93	0.441	0.16577	.	13.999700	0.00166	N	0.000001	T	0.17280	0.0415	L	0.33485	1.01	0.09310	N	1	B;B	0.23806	0.091;0.055	B;B	0.19946	0.027;0.014	T	0.19257	-1.0311	10	0.23302	T	0.38	-0.0956	7.3295	0.26573	0.0:0.5794:0.1244:0.2962	.	418;438	F5GYV8;Q13651	.;I10R1_HUMAN	S	438;418;289;418	ENSP00000227752:P438S;ENSP00000441397:P418S;ENSP00000443019:P289S	ENSP00000227752:P438S	P	+	1	0	IL10RA	117375141	0.002000	0.14202	0.003000	0.11579	0.004000	0.04260	0.131000	0.15870	0.137000	0.18759	-0.251000	0.11542	CCA		PASS	0.607	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			21	42	21	42	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118772641	118772641	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:118772641G>C	ENST00000334801.3	-	6	2775	c.1811C>G	c.(1810-1812)cCa>cGa	p.P604R	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	604					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.P604R(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGGTTGCCTGGGAAACGGGG	0.632																																						uc001pug.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1810-1812)CCA>CGA		B-cell CLL/lymphoma 9-like							33.0	34.0	34.0					11																	118772641		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118772641G>C	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1811C>G	11.37:g.118772641G>C	ENSP00000335320:p.Pro604Arg					BCL9L_uc009zal.2_Missense_Mutation_p.P599R	p.P604R	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2776	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	604					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1811C>G	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	9.458	1.092340	0.20471	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.64991	-0.13	4.73	4.73	0.59995	.	0.000000	0.43579	D	0.000547	T	0.67325	0.2881	L	0.36672	1.1	0.46981	D	0.99927	D;D	0.58268	0.982;0.969	P;P	0.57911	0.829;0.68	T	0.66548	-0.5896	10	0.38643	T	0.18	-6.6855	17.4781	0.87666	0.0:0.0:1.0:0.0	.	599;604	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	R	604;567;604;604	ENSP00000335320:P604R	ENSP00000335320:P604R	P	-	2	0	BCL9L	118277851	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.643000	0.67895	2.465000	0.83290	0.313000	0.20887	CCA		PASS	0.632	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	11	7	11	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810819	123810819	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:123810819C>G	ENST00000307033.2	+	1	570	c.496C>G	c.(496-498)Ctg>Gtg	p.L166V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L166V(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GACTATCCAGCTGCCATTCTG	0.478																																						uc001pzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)CTG>GTG		olfactory receptor, family 4, subfamily D,							126.0	116.0	120.0					11																	123810819		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810819C>G	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.496C>G	11.37:g.123810819C>G	ENSP00000305970:p.Leu166Val						p.L166V	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	496	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	166			Extracellular (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.496C>G	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188679	0.57909	.	.	ENSG00000171014	ENST00000307033	T	0.00285	8.3	5.5	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37906	N	0.001893	T	0.00496	0.0016	M	0.85299	2.745	0.27783	N	0.943108	B	0.33413	0.411	P	0.47941	0.562	T	0.01583	-1.1319	10	0.72032	D	0.01	-1.2531	8.9733	0.35919	0.0:0.6987:0.0:0.3013	.	166	Q8NGN0	OR4D5_HUMAN	V	166	ENSP00000305970:L166V	ENSP00000305970:L166V	L	+	1	2	OR4D5	123316029	0.009000	0.17119	0.949000	0.38748	0.973000	0.67179	0.333000	0.19768	0.687000	0.31509	0.655000	0.94253	CTG		PASS	0.478	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		13	27	13	27	---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124252313	124252313	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr11:124252313C>T	ENST00000375013.2	-	1	945	c.927G>A	c.(925-927)agG>agA	p.R309R		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R309R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATATATTTCTCCTCTGAATTT	0.343																																						uc010sai.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(925-927)AGG>AGA		olfactory receptor, family 8, subfamily B,							46.0	49.0	48.0					11																	124252313		2201	4298	6499	SO:0001819	synonymous_variant	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252313C>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.927G>A	11.37:g.124252313C>T							p.R309R	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	927	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	309			Cytoplasmic (Potential).		Q8NGH2	Silent	SNP	ENST00000375013.2	37	c.927G>A	CCDS31708.1																																																																																				PASS	0.343	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		6	34	6	34	---	---	---	---
ENO2	2026	broad.mit.edu	37	12	7025668	7025668	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:7025668T>C	ENST00000535366.1	+	2	799	c.173T>C	c.(172-174)tTa>tCa	p.L58S	ENO2_ENST00000538763.1_Missense_Mutation_p.L58S|ENO2_ENST00000229277.1_Missense_Mutation_p.L58S|ENO2_ENST00000545045.2_Missense_Mutation_p.L58S|ENO2_ENST00000541477.1_Missense_Mutation_p.L58S|ENO2_ENST00000544774.1_Missense_Mutation_p.L58S			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	58					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)	p.L58S(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGCGTTACTTAGGCAAAGGT	0.572																																						uc001qru.1																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)TTA>TCA		enolase 2							173.0	137.0	149.0					12																	7025668		2203	4300	6503	SO:0001583	missense	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7025668T>C	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.173T>C	12.37:g.7025668T>C	ENSP00000437402:p.Leu58Ser					ENO2_uc009zfi.1_Missense_Mutation_p.L58S|ENO2_uc010sfq.1_Missense_Mutation_p.L58S|ENO2_uc001qrv.1_Missense_Mutation_p.L58S	p.L58S	NM_001975	NP_001966	P09104	ENOG_HUMAN			3	395	+			58					B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	37	c.173T>C	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	t	19.75	3.886515	0.72410	.	.	ENSG00000111674	ENST00000537688;ENST00000540580;ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000539713;ENST00000535366;ENST00000545045;ENST00000544430	T;T;T;T;T;T;T;T;T	0.33654	1.5;1.5;1.4;1.4;1.4;1.4;1.5;1.4;1.5	5.02	5.02	0.67125	Enolase, N-terminal (1);	0.406650	0.23537	N	0.047110	T	0.58278	0.2111	M	0.89214	3.015	0.42141	D	0.99151	B;B	0.31290	0.318;0.293	P;P	0.45232	0.474;0.459	T	0.64407	-0.6415	10	0.56958	D	0.05	-4.9154	15.027	0.71677	0.0:0.0:0.0:1.0	.	58;58	B7Z2X9;P09104	.;ENOG_HUMAN	S	58	ENSP00000445788:L58S;ENSP00000443117:L58S;ENSP00000438873:L58S;ENSP00000229277:L58S;ENSP00000441490:L58S;ENSP00000446195:L58S;ENSP00000441740:L58S;ENSP00000437402:L58S;ENSP00000438062:L58S	ENSP00000229277:L58S	L	+	2	0	ENO2	6895929	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.088000	0.57678	2.006000	0.58801	0.454000	0.30748	TTA		PASS	0.572	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			11	20	11	20	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9007400	9007400	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:9007400A>T	ENST00000299698.7	+	22	2917	c.2737A>T	c.(2737-2739)Aca>Tca	p.T913S	A2ML1_ENST00000539547.1_Missense_Mutation_p.T422S	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.T913S(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGTGGAGAAGACACACAGCTC	0.473																																						uc001quz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2737-2739)ACA>TCA		alpha-2-macroglobulin-like 1 precursor							89.0	89.0	89.0					12																	9007400		1948	4157	6105	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9007400A>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2737A>T	12.37:g.9007400A>T	ENSP00000299698:p.Thr913Ser					A2ML1_uc001qva.1_Missense_Mutation_p.T493S|A2ML1_uc010sgm.1_Missense_Mutation_p.T413S	p.T913S	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			22	2835	+			757						Missense_Mutation	SNP	ENST00000299698.7	37	c.2737A>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	4.024	0.001954	0.07819	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.35048	1.33;1.46;2.02	4.59	3.47	0.39725	.	0.123573	0.36268	N	0.002687	T	0.21550	0.0519	L	0.36672	1.1	0.23649	N	0.997205	B	0.32573	0.376	B	0.32393	0.145	T	0.06215	-1.0839	10	0.25751	T	0.34	.	2.6464	0.04985	0.6339:0.0:0.1519:0.2142	.	913	A8K2U0	A2ML1_HUMAN	S	913;913;463;422	ENSP00000299698:T913S;ENSP00000443174:T463S;ENSP00000438292:T422S	ENSP00000299698:T913S	T	+	1	0	A2ML1	8898667	0.445000	0.25657	1.000000	0.80357	0.971000	0.66376	0.335000	0.19806	2.055000	0.61198	0.482000	0.46254	ACA		PASS	0.473	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		11	28	11	28	---	---	---	---
PHC1	1911	broad.mit.edu	37	12	9083501	9083501	+	Silent	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:9083501C>G	ENST00000543824.1	+	8	1415	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P	PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Silent_p.P361P|PHC1_ENST00000433083.2_Silent_p.P316P|PHC1_ENST00000536844.1_Silent_p.P140P			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	361					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P361P(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CACCTGCGCCCAGCCAGACAC	0.453																																						uc001qvd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1081-1083)CCC>CCG		polyhomeotic 1-like							26.0	30.0	29.0					12																	9083501		2203	4300	6503	SO:0001819	synonymous_variant	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9083501C>G	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.1083C>G	12.37:g.9083501C>G						PHC1_uc001qvc.1_Silent_p.P316P|PHC1_uc010sgn.1_Silent_p.P361P|PHC1_uc001qve.2_Silent_p.P361P	p.P361P	NM_004426	NP_004417	P78364	PHC1_HUMAN			7	1239	+			361					D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	c.1083C>G	CCDS8597.1																																																																																				PASS	0.453	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		4	11	4	11	---	---	---	---
A2M	2	broad.mit.edu	37	12	9227227	9227227	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:9227227T>A	ENST00000318602.7	-	29	3992	c.3685A>T	c.(3685-3687)Acc>Tcc	p.T1229S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1229					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.T1229S(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GTTGCAGAGGTCAGGTCCTCC	0.547																																						uc001qvk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(3685-3687)ACC>TCC		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						67.0	67.0	67.0					12																	9227227		2203	4300	6503	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9227227T>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3685A>T	12.37:g.9227227T>A	ENSP00000323929:p.Thr1229Ser					A2M_uc001qvj.1_Missense_Mutation_p.T271S|A2M_uc009zgk.1_Missense_Mutation_p.T1079S	p.T1229S	NM_000014	NP_000005	P01023	A2MG_HUMAN			29	3798	-			1229					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3685A>T	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	3.129	-0.178771	0.06380	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.36520	1.25	4.9	-2.3	0.06785	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.780527	0.11971	N	0.511803	T	0.16727	0.0402	N	0.16478	0.41	0.09310	N	1	B	0.19331	0.035	B	0.25614	0.062	T	0.29274	-1.0017	10	0.17832	T	0.49	.	3.6941	0.08357	0.2576:0.2975:0.0:0.4448	.	1229	P01023	A2MG_HUMAN	S	1229;1244	ENSP00000323929:T1229S	ENSP00000323929:T1229S	T	-	1	0	A2M	9118494	0.000000	0.05858	0.016000	0.15963	0.132000	0.20833	-0.191000	0.09601	-0.192000	0.10432	0.260000	0.18958	ACC		PASS	0.547	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		5	14	5	14	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9309771	9309771	+	Splice_Site	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:9309771C>G	ENST00000261336.2	-	28	3578	c.3550G>C	c.(3550-3552)Gac>Cac	p.D1184H	PZP_ENST00000381997.2_Splice_Site_p.D970H	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1184					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D970H(1)|p.D1184H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						gtgCTCTCACCTTCTTTCACA	0.483																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(3550-3552)GAC>CAC		pregnancy-zone protein precursor							137.0	112.0	121.0					12																	9309771		2203	4300	6503	SO:0001630	splice_region_variant	5858							g.chr12:9309771C>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3550+1G>C	12.37:g.9309771C>G						PZP_uc009zgl.2_Missense_Mutation_p.D970H	p.D1184H	NM_002864	NP_002855					28	3579	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.3550G>C	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119719	0.37436	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.38560	1.13;1.13	3.06	3.06	0.35304	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.403823	0.20705	U	0.087193	T	0.63141	0.2486	M	0.83384	2.64	0.32728	N	0.509332	D;P	0.76494	0.999;0.496	D;B	0.64237	0.923;0.429	T	0.74774	-0.3551	9	.	.	.	.	13.8125	0.63273	0.0:1.0:0.0:0.0	.	970;1184	P20742-2;P20742	.;PZP_HUMAN	H	1184;970	ENSP00000261336:D1184H;ENSP00000371427:D970H	.	D	-	1	0	PZP	9201038	1.000000	0.71417	0.999000	0.59377	0.250000	0.25880	5.883000	0.69721	2.007000	0.58848	0.557000	0.71058	GAC		PASS	0.483	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	Missense_Mutation	14	17	14	17	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29709822	29709822	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:29709822G>T	ENST00000539277.1	-	10	1702	c.1644C>A	c.(1642-1644)aaC>aaA	p.N548K	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.N572K|TMTC1_ENST00000381224.2_Missense_Mutation_p.N502K|TMTC1_ENST00000256062.5_Missense_Mutation_p.N440K|TMTC1_ENST00000551659.1_Missense_Mutation_p.N610K	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	548						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.N440K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAAGAGCCCGGTTATGCTGTG	0.502																																						uc001rjb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1318-1320)AAC>AAA		transmembrane and tetratricopeptide repeat							202.0	170.0	181.0					12																	29709822		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29709822G>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1644C>A	12.37:g.29709822G>T	ENSP00000442046:p.Asn548Lys					TMTC1_uc001riz.2_Missense_Mutation_p.N197K|TMTC1_uc001rja.2_Missense_Mutation_p.N284K|TMTC1_uc001rjc.1_Missense_Mutation_p.N502K	p.N440K	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			10	1794	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		548			TPR 3.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1320C>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	7.980	0.750881	0.15778	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.76060	0.68;0.68;0.28;0.68;-0.99	5.48	3.65	0.41850	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	N	0.08118	0	0.43029	D	0.994595	B;P;P	0.40398	0.056;0.716;0.597	B;B;B	0.36534	0.027;0.194;0.227	T	0.46331	-0.9199	9	.	.	.	-23.718	8.5993	0.33734	0.232:0.0:0.768:0.0	.	502;548;610	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	K	311;440;610;572;548;502	ENSP00000256062:N440K;ENSP00000448112:N610K;ENSP00000449043:N572K;ENSP00000442046:N548K;ENSP00000370622:N502K	.	N	-	3	2	TMTC1	29601089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.669000	0.46825	1.324000	0.45282	0.655000	0.94253	AAC		PASS	0.502	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		20	50	20	50	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43822241	43822241	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:43822241C>T	ENST00000389420.3	-	26	3747	c.3748G>A	c.(3748-3750)Gtt>Att	p.V1250I	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.V368I|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.V1250I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1250	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V1250I(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAAGGGCGAACTTCAGGATCA	0.478																																						uc010skx.1																			1	Substitution - Missense(1)	p.P1250P(1)|p.P1250T(1)	lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3748-3750)GTT>ATT		a disintegrin-like and metalloprotease with							71.0	72.0	72.0					12																	43822241		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43822241C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3748G>A	12.37:g.43822241C>T	ENSP00000374071:p.Val1250Ile					ADAMTS20_uc001rno.1_Missense_Mutation_p.V368I|ADAMTS20_uc001rnp.1_Missense_Mutation_p.V404I	p.V1250I	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	26	3748	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1250			TSP type-1 8.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3748G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	8.281	0.815641	0.16607	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.35	1.54	0.23209	.	1.052460	0.07565	N	0.917561	T	0.42471	0.1204	N	0.25992	0.78	0.09310	N	0.999993	B;D	0.54601	0.061;0.967	B;P	0.47015	0.038;0.534	T	0.25779	-1.0122	10	0.17369	T	0.5	.	9.0133	0.36155	0.0:0.6387:0.0:0.3613	.	1250;368	P59510;E9PBD5	ATS20_HUMAN;.	I	1250;380;368;1250;1250	ENSP00000374071:V1250I;ENSP00000447427:V380I;ENSP00000378911:V368I;ENSP00000448341:V1250I	ENSP00000374068:V1250I	V	-	1	0	ADAMTS20	42108508	0.108000	0.22018	0.145000	0.22337	0.092000	0.18411	0.577000	0.23758	0.470000	0.27294	-0.203000	0.12734	GTT		PASS	0.478	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		9	43	9	43	---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49724003	49724003	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:49724003G>A	ENST00000257909.3	+	13	1451	c.1375G>A	c.(1375-1377)Gga>Aga	p.G459R	TROAP_ENST00000547923.1_Missense_Mutation_p.G167R|TROAP_ENST00000551245.1_Missense_Mutation_p.G459R	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	459					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.G459R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCTCTTAATGGAGGCTCTTC	0.542																																						uc001rtx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1375-1377)GGA>AGA		tastin isoform 1							122.0	128.0	126.0					12																	49724003		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724003G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1375G>A	12.37:g.49724003G>A	ENSP00000257909:p.Gly459Arg					TROAP_uc009zlh.2_Missense_Mutation_p.G459R|TROAP_uc001rty.2_Missense_Mutation_p.G167R	p.G459R	NM_005480	NP_005471	Q12815	TROAP_HUMAN			13	1542	+			459					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1375G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173180	0.38413	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.17	4.27	0.50696	.	0.449144	0.20800	N	0.085455	T	0.53142	0.1778	L	0.43923	1.385	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.971;0.971;0.971	T	0.42050	-0.9474	9	0.54805	T	0.06	-1.8158	11.0194	0.47709	0.0:0.0:0.8149:0.1851	.	459;167;459	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	R	459;459;167	.	ENSP00000257909:G459R	G	+	1	0	TROAP	48010270	0.157000	0.22836	0.015000	0.15790	0.218000	0.24690	3.207000	0.51106	1.409000	0.46915	0.561000	0.74099	GGA		PASS	0.542	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		29	94	29	94	---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49936562	49936562	+	Silent	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:49936562G>T	ENST00000257981.6	+	4	779	c.519G>T	c.(517-519)gtG>gtT	p.V173V	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	173					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.V173V(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCCGGGCCGTGCTCTACCACC	0.652																																						uc001ruh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(517-519)GTG>GTT		potassium voltage-gated channel, subfamily H							21.0	22.0	21.0					12																	49936562		2197	4297	6494	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49936562G>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.519G>T	12.37:g.49936562G>T						KCNH3_uc010smj.1_Silent_p.V113V	p.V173V	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			4	779	+			173			Cytoplasmic (Potential).		Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.519G>T	CCDS8786.1																																																																																				PASS	0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		5	6	5	6	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51090901	51090901	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:51090901C>A	ENST00000301180.5	+	17	2025	c.1991C>A	c.(1990-1992)cCt>cAt	p.P664H		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	664						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P664H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGACTGAAGCCTGAGGCCATC	0.493																																						uc001rwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|pancreas(1)	6						c.(1990-1992)CCT>CAT		DIP2 disco-interacting protein 2 homolog B							124.0	98.0	107.0					12																	51090901		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51090901C>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1991C>A	12.37:g.51090901C>A	ENSP00000301180:p.Pro664His					DIP2B_uc009zlt.2_Missense_Mutation_p.P94H	p.P664H	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			17	2147	+			664					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.1991C>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129592	0.94473	.	.	ENSG00000066084	ENST00000301180	T	0.25414	1.8	5.44	5.44	0.79542	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.74881	2.28	0.80722	D	1	D	0.60575	0.988	D	0.64687	0.928	T	0.51733	-0.8668	10	0.62326	D	0.03	-16.4081	19.4483	0.94857	0.0:1.0:0.0:0.0	.	664	Q9P265	DIP2B_HUMAN	H	664	ENSP00000301180:P664H	ENSP00000301180:P664H	P	+	2	0	DIP2B	49377168	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.786000	0.69006	2.835000	0.97688	0.591000	0.81541	CCT		PASS	0.493	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		5	57	5	57	---	---	---	---
CD63	967	broad.mit.edu	37	12	56119959	56119959	+	Silent	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:56119959A>G	ENST00000549117.1	-	6	949	c.513T>C	c.(511-513)atT>atC	p.I171I	CD63_ENST00000552692.1_Silent_p.I171I|CD63_ENST00000548160.1_Silent_p.I78I|CD63_ENST00000257857.4_Silent_p.I171I|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000548898.1_Silent_p.I78I|CD63_ENST00000420846.3_Silent_p.I171I|CD63_ENST00000550776.1_Silent_p.I89I|CD63_ENST00000552754.1_Silent_p.I148I|CD63_ENST00000552067.1_Silent_p.I78I|CD63_ENST00000546939.1_Silent_p.I89I	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	171					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)		p.I171I(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CAGTAACATTAATGCAGCAGG	0.502																																					Pancreas(123;1459 1747 6717 18841 37380)	uc001shm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(511-513)ATT>ATC		CD63 antigen isoform A							101.0	100.0	100.0					12																	56119959		2203	4300	6503	SO:0001819	synonymous_variant	967				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56119959A>G	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.513T>C	12.37:g.56119959A>G						CD63_uc009znz.2_Silent_p.I148I|CD63_uc001shn.2_Silent_p.I171I|CD63_uc001sho.2_Silent_p.I171I|CD63_uc001shp.2_Silent_p.I171I	p.I171I	NM_001780	NP_001771	P08962	CD63_HUMAN			5	609	-			171			Extracellular (Potential).		F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Silent	SNP	ENST00000549117.1	37	c.513T>C	CCDS8890.1																																																																																				PASS	0.502	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			24	37	24	37	---	---	---	---
DTX3	196403	broad.mit.edu	37	12	58000741	58000741	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:58000741A>T	ENST00000548198.1	+	3	1599	c.95A>T	c.(94-96)gAg>gTg	p.E32V	DTX3_ENST00000551632.1_Missense_Mutation_p.E35V|DTX3_ENST00000337737.3_Missense_Mutation_p.E32V|DTX3_ENST00000548804.1_Missense_Mutation_p.E32V			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	32					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E32V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CTGAGCAAAGAGACCCCAGCC	0.592																																						uc001sow.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(94-96)GAG>GTG		deltex homolog 3							138.0	154.0	149.0					12																	58000741		1979	4151	6130	SO:0001583	missense	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58000741A>T	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.95A>T	12.37:g.58000741A>T	ENSP00000447873:p.Glu32Val					DTX3_uc001sov.1_Missense_Mutation_p.E25V|DTX3_uc001sox.1_Missense_Mutation_p.E25V|DTX3_uc001soy.1_Missense_Mutation_p.E25V	p.E32V	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN			5	432	+	Melanoma(17;0.122)		32					Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	ENST00000548198.1	37	c.95A>T	CCDS41800.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694786	0.48202	.	.	ENSG00000178498	ENST00000548804;ENST00000551835;ENST00000549583;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000548478	T;T;T;T;T;T	0.50813	1.38;0.73;1.38;1.38;1.38;0.77	3.87	3.87	0.44632	.	0.604741	0.14876	N	0.293234	T	0.27063	0.0663	N	0.14661	0.345	0.39278	D	0.9645	B	0.31655	0.334	B	0.23150	0.044	T	0.11155	-1.0599	10	0.23302	T	0.38	5.8822	10.9517	0.47334	1.0:0.0:0.0:0.0	.	32	Q8N9I9	DTX3_HUMAN	V	32;32;35;32;32;35;25	ENSP00000449294:E32V;ENSP00000449688:E35V;ENSP00000338050:E32V;ENSP00000447873:E32V;ENSP00000448696:E35V;ENSP00000448224:E25V	ENSP00000338050:E32V	E	+	2	0	DTX3	56287008	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.482000	0.66833	1.531000	0.49152	0.379000	0.24179	GAG		PASS	0.592	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		61	85	61	85	---	---	---	---
TSPAN31	6302	broad.mit.edu	37	12	58140912	58140912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:58140912G>T	ENST00000257910.3	+	5	830	c.556G>T	c.(556-558)Gag>Tag	p.E186*	TSPAN31_ENST00000547992.1_Nonsense_Mutation_p.E102*|CDK4_ENST00000551888.1_5'Flank|TSPAN31_ENST00000547472.1_Nonsense_Mutation_p.E103*	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	186					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.E186*(1)		endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TAGCTTTACAGAGGTAACATT	0.438																																						uc001spt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(556-558)GAG>TAG		sarcoma amplified sequence							137.0	139.0	138.0					12																	58140912		2203	4300	6503	SO:0001587	stop_gained	6302				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		g.chr12:58140912G>T		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.556G>T	12.37:g.58140912G>T	ENSP00000257910:p.Glu186*					TSPAN31_uc009zqb.2_Nonsense_Mutation_p.E102*|TSPAN31_uc010ssa.1_Nonsense_Mutation_p.E108*	p.E186*	NM_005981	NP_005972	Q12999	TSN31_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		5	710	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		186			Helical; (Potential).		O00577|Q53X76	Nonsense_Mutation	SNP	ENST00000257910.3	37	c.556G>T	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539840	0.85917	.	.	ENSG00000135452	ENST00000257910;ENST00000547992;ENST00000547472	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.8525	16.6061	0.84830	0.0:0.0:1.0:0.0	.	.	.	.	X	186;102;103	.	.	E	+	1	0	TSPAN31	56427179	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.162000	0.77515	2.873000	0.98535	0.561000	0.74099	GAG		PASS	0.438	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			8	124	8	124	---	---	---	---
CPSF6	11052	broad.mit.edu	37	12	69650536	69650536	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:69650536C>A	ENST00000435070.2	+	4	544	c.434C>A	c.(433-435)cCt>cAt	p.P145H	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.P145H|CPSF6_ENST00000266679.8_Missense_Mutation_p.P145H	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	145	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P145H(2)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GATCTGTTACCTAAAAGAGAA	0.383																																						uc001sut.3																			2	Substitution - Missense(2)		lung(2)		0						c.(433-435)CCT>CAT		cleavage and polyadenylation specific factor 6,							126.0	128.0	127.0					12																	69650536		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69650536C>A	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.434C>A	12.37:g.69650536C>A	ENSP00000391774:p.Pro145His					CPSF6_uc001suu.3_Missense_Mutation_p.P145H|CPSF6_uc010stk.1_5'Flank	p.P145H	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		4	544	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		145			RRM.|Necessary for interaction with NUDT21/CPSF5.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.434C>A	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231874	0.79688	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.73258	-0.73;-0.73;-0.73	5.85	5.85	0.93711	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.099589	0.64402	D	0.000001	T	0.76550	0.4003	L	0.41356	1.27	0.80722	D	1	D;D	0.65815	0.995;0.98	P;P	0.57468	0.821;0.784	T	0.72211	-0.4359	9	.	.	.	-9.799	20.5471	0.99284	0.0:1.0:0.0:0.0	.	145;145	Q16630-2;Q16630	.;CPSF6_HUMAN	H	145	ENSP00000391774:P145H;ENSP00000391437:P145H;ENSP00000266679:P145H	.	P	+	2	0	CPSF6	67936803	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCT		PASS	0.383	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		6	96	6	96	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72666957	72666957	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:72666957G>C	ENST00000261180.4	+	1	495	c.399G>C	c.(397-399)tgG>tgC	p.W133C	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	133					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W133C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGGAGCCGTGGGAGCCGTGGA	0.706																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(397-399)TGG>TGC		thyrotropin-releasing hormone degrading enzyme							22.0	24.0	23.0					12																	72666957		2175	4240	6415	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72666957G>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.399G>C	12.37:g.72666957G>C	ENSP00000261180:p.Trp133Cys					LOC283392_uc010stv.1_5'UTR	p.W133C	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			1	429	+			133			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.399G>C	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884088	0.33255	.	.	ENSG00000072657	ENST00000261180	T	0.04156	3.69	4.97	4.97	0.65823	.	0.991238	0.08209	N	0.981111	T	0.05227	0.0139	N	0.19112	0.55	0.50467	D	0.999874	B	0.27732	0.187	B	0.26614	0.071	T	0.43228	-0.9404	10	0.56958	D	0.05	.	12.7482	0.57293	0.0:0.0:0.835:0.165	.	133	Q9UKU6	TRHDE_HUMAN	C	133	ENSP00000261180:W133C	ENSP00000261180:W133C	W	+	3	0	TRHDE	70953224	0.983000	0.35010	0.974000	0.42286	0.698000	0.40448	2.289000	0.43523	2.274000	0.75844	0.514000	0.50259	TGG		PASS	0.706	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		6	13	6	13	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81472035	81472035	+	Missense_Mutation	SNP	C	C	T	rs12824208		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:81472035C>T	ENST00000548058.1	+	1	1046	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F	ACSS3_ENST00000261206.3_Missense_Mutation_p.L46F			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	46						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.L46F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCGGGGCGGTCTCGGGGGCCG	0.741																																						uc001szl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(136-138)CTC>TTC		acyl-CoA synthetase short-chain family member 3							9.0	10.0	10.0					12																	81472035		2055	4070	6125	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81472035C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.136C>T	12.37:g.81472035C>T	ENSP00000449535:p.Leu46Phe					ACSS3_uc001szm.1_Missense_Mutation_p.L46F	p.L46F	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			1	227	+			46					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.136C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	3.410	-0.120376	0.06838	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.27256	1.68;1.68	4.48	1.38	0.22167	.	1.210500	0.06010	N	0.649268	T	0.11922	0.0290	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	10	0.15952	T	0.53	-3.6581	4.7011	0.12827	0.0:0.4481:0.3487:0.2032	.	46	Q9H6R3	ACSS3_HUMAN	F	46	ENSP00000449535:L46F;ENSP00000261206:L46F	ENSP00000261206:L46F	L	+	1	0	ACSS3	79996166	0.000000	0.05858	0.011000	0.14972	0.002000	0.02628	0.052000	0.14163	0.482000	0.27582	-0.300000	0.09419	CTC		PASS	0.741	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		6	4	6	4	---	---	---	---
USP44	84101	broad.mit.edu	37	12	95907481	95907481	+	IGR	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:95907481T>C	ENST00000258499.3	-	0	4022				METAP2_ENST00000551840.1_Missense_Mutation_p.L412P|METAP2_ENST00000550777.1_Missense_Mutation_p.L377P|METAP2_ENST00000323666.5_Missense_Mutation_p.L413P|METAP2_ENST00000546753.1_Missense_Mutation_p.L390P|METAP2_ENST00000261220.9_Missense_Mutation_p.L390P	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L413P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TTTGGAACCCTTGCCTTCTGC	0.413																																						uc001tec.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1237-1239)CTT>CCT		methionyl aminopeptidase 2	L-Methionine(DB00134)						123.0	118.0	119.0					12																	95907481		2203	4300	6503	SO:0001628	intergenic_variant	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95907481T>C	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7			12.37:g.95907481T>C						METAP2_uc010suv.1_Missense_Mutation_p.L390P|METAP2_uc009ztd.2_Missense_Mutation_p.L377P|METAP2_uc001ted.2_Missense_Mutation_p.L412P|METAP2_uc001tef.2_Missense_Mutation_p.L390P|METAP2_uc001tee.2_RNA	p.L413P	NM_006838	NP_006829	P50579	AMPM2_HUMAN			11	1372	+			413					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1238T>C	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648813	0.67358	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	.	.	.	5.83	4.68	0.58851	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	D	0.88459	0.6442	H	0.98802	4.335	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.998;0.999	D	0.91181	0.4976	9	0.72032	D	0.01	-14.8071	12.0185	0.53329	0.0:0.0677:0.0:0.9323	.	390;377;390;412;413	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	P	413;390;390;377;412	.	ENSP00000261220:L390P	L	+	2	0	METAP2	94431612	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	1.026000	0.39733	0.533000	0.62120	CTT		PASS	0.413	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		28	83	28	83	---	---	---	---
ALDH1L2	160428	broad.mit.edu	37	12	105459074	105459074	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:105459074G>T	ENST00000258494.9	-	6	897	c.757C>A	c.(757-759)Cct>Act	p.P253T	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P253T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	253					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.P253T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CAAGCTCCAGGGACTTTATCA	0.463																																						uc001tlc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(757-759)CCT>ACT		aldehyde dehydrogenase 1 family, member L2							100.0	90.0	93.0					12																	105459074		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105459074G>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.757C>A	12.37:g.105459074G>T	ENSP00000258494:p.Pro253Thr					ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	p.P253T	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			6	884	-			253					Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.757C>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879074	0.91740	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.80214	-1.35;-1.35	5.71	5.71	0.89125	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93090	0.7800	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94369	0.7594	10	0.87932	D	0	.	19.8506	0.96738	0.0:0.0:1.0:0.0	.	253	Q3SY69	AL1L2_HUMAN	T	253	ENSP00000258494:P253T;ENSP00000389608:P253T	ENSP00000258494:P253T	P	-	1	0	ALDH1L2	103983204	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.381000	0.97205	2.686000	0.91538	0.655000	0.94253	CCT		PASS	0.463	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		5	78	5	78	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121877660	121877660	+	Splice_Site	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:121877660C>T	ENST00000377071.4	-	22	3901	c.3829G>A	c.(3829-3831)Gac>Aac	p.D1277N	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Splice_Site_p.D645N|KDM2B_ENST00000377069.4_Splice_Site_p.D1208N	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1277					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.D1277N(1)|p.D916N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTGACTCACCAGACAGGTTG	0.547																																						uc001uat.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3829-3831)GAC>AAC		F-box and leucine-rich repeat protein 10 isoform							71.0	79.0	76.0					12																	121877660		2042	4174	6216	SO:0001630	splice_region_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121877660C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3829+1G>A	12.37:g.121877660C>T						KDM2B_uc001uaq.2_Missense_Mutation_p.D717N|KDM2B_uc010szy.1_Missense_Mutation_p.D717N|KDM2B_uc001uar.2_Missense_Mutation_p.D868N|KDM2B_uc001uas.2_Missense_Mutation_p.D1208N|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.D525N|KDM2B_uc010szx.1_Missense_Mutation_p.D525N|KDM2B_uc001uap.2_RNA	p.D1277N	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			22	3933	-			1277			LRR 5.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3829G>A	CCDS41850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.178293|4.178293	0.78564|0.78564	.|.	.|.	ENSG00000089094|ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043|ENST00000261824	T;T;T|.	0.02369|.	4.32;4.32;4.32|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.52532|.	D|.	0.000063|.	T|T	0.34948|0.34948	0.0915|0.0915	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.29432|.	0.003;0.244;0.181;0.006|.	B;B;B;B|.	0.29785|.	0.003;0.107;0.031;0.014|.	T|T	0.33574|0.33574	-0.9863|-0.9863	9|5	.|.	.|.	.|.	-16.1468|-16.1468	18.9603|18.9603	0.92676|0.92676	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	717;1277;1208;720|.	B7ZB05;Q8NHM5;A8MRS1;B4DSN4|.	.;KDM2B_HUMAN;.;.|.	N|S	1267;645;1208;1277;720|1280	ENSP00000437821:D645N;ENSP00000366269:D1208N;ENSP00000366271:D1277N|.	.|.	D|G	-|-	1|1	0|0	KDM2B|KDM2B	120362043|120362043	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.879000|0.879000	0.50718|0.50718	6.086000|6.086000	0.71352|0.71352	2.475000|2.475000	0.83589|0.83589	0.467000|0.467000	0.42956|0.42956	GAC|GGC		PASS	0.547	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	Missense_Mutation	8	12	8	12	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129566492	129566492	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:129566492C>G	ENST00000422113.2	-	7	2061	c.1735G>C	c.(1735-1737)Gtc>Ctc	p.V579L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.V117L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	579					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.V579L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGCGTCAGGACCCGCACCATG	0.647																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1735-1737)GTC>CTC		transmembrane protein 132D precursor							44.0	47.0	46.0					12																	129566492		2203	4299	6502	SO:0001583	missense	121256					integral to membrane		g.chr12:129566492C>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1735G>C	12.37:g.129566492C>G	ENSP00000408581:p.Val579Leu					TMEM132D_uc001uia.2_Missense_Mutation_p.V117L	p.V579L	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2063	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	579			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1735G>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095341	0.94197	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.21734	1.99;1.99	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000013	T	0.54303	0.1850	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.64706	-0.6344	9	.	.	.	-48.9606	17.6741	0.88225	0.0:1.0:0.0:0.0	.	579;117	Q14C87;Q14C87-2	T132D_HUMAN;.	L	117;579	ENSP00000374092:V117L;ENSP00000408581:V579L	.	V	-	1	0	TMEM132D	128132445	1.000000	0.71417	0.977000	0.42913	0.948000	0.59901	4.817000	0.62650	2.149000	0.67028	0.561000	0.74099	GTC		PASS	0.647	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		5	23	5	23	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129822210	129822210	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr12:129822210T>C	ENST00000422113.2	-	4	1594	c.1268A>G	c.(1267-1269)aAg>aGg	p.K423R		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	423					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.K423R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AATCAAGTCCTTTGGGCTCAC	0.612																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1267-1269)AAG>AGG		transmembrane protein 132D precursor							156.0	136.0	142.0					12																	129822210		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129822210T>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1268A>G	12.37:g.129822210T>C	ENSP00000408581:p.Lys423Arg						p.K423R	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1596	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	423			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1268A>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	2.449	-0.326780	0.05350	.	.	ENSG00000151952	ENST00000422113	T	0.11712	2.75	5.18	4.03	0.46877	.	0.580151	0.15838	N	0.242190	T	0.09468	0.0233	L	0.39467	1.215	0.22684	N	0.998857	B	0.13594	0.008	B	0.09377	0.004	T	0.30909	-0.9962	9	.	.	.	-23.6803	9.4868	0.38935	0.0:0.0808:0.0:0.9192	.	423	Q14C87	T132D_HUMAN	R	423	ENSP00000408581:K423R	.	K	-	2	0	TMEM132D	128388163	1.000000	0.71417	0.412000	0.26496	0.064000	0.16182	2.769000	0.47654	0.808000	0.34231	0.456000	0.33151	AAG		PASS	0.612	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		33	131	33	131	---	---	---	---
RGCC	28984	broad.mit.edu	37	13	42032568	42032568	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr13:42032568C>G	ENST00000379359.3	+	2	346	c.197C>G	c.(196-198)gCc>gGc	p.A66G		NM_014059.2	NP_054778.2	Q9H4X1	RGCC_HUMAN	regulator of cell cycle	66	Ser/Thr-rich.				cellular response to hypoxia (GO:0071456)|complement activation (GO:0006956)|fibroblast activation (GO:0072537)|mitotic cell cycle arrest (GO:0071850)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of exit from mitosis (GO:0001100)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mitotic cell cycle phase transition (GO:1901991)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of mitosis (GO:0045840)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stress fiber assembly (GO:0051496)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)	p.A66G(1)									CGCAGCAGCGCCAGTGTCAGC	0.682																																						uc001uyi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)GCC>GGC		response gene to complement 32							8.0	9.0	9.0					13																	42032568		1882	4079	5961	SO:0001583	missense	28984				cell cycle|regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus		g.chr13:42032568C>G	AF036549	CCDS41880.1	13q14.11	2012-02-20	2012-02-20	2012-02-20	ENSG00000102760	ENSG00000102760			20369	protein-coding gene	gene with protein product	"""response gene to complement 32"""	610077	"""chromosome 13 open reading frame 15"""	C13orf15		17146433, 19158077, 19652095	Standard	NM_014059		Approved	bA157L14.2, RGC-32, RGC32	uc001uyi.2	Q9H4X1	OTTHUMG00000016796	ENST00000379359.3:c.197C>G	13.37:g.42032568C>G	ENSP00000368664:p.Ala66Gly						p.A66G	NM_014059	NP_054778	Q9H4X1	RGC32_HUMAN		all cancers(112;8.62e-09)|Epithelial(112;8.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000504)|GBM - Glioblastoma multiforme(144;0.000909)|BRCA - Breast invasive adenocarcinoma(63;0.0679)	2	499	+		Lung NSC(96;7.5e-06)|Prostate(109;0.0181)|Breast(139;0.0204)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	66			Ser/Thr-rich.		Q6NZ48|Q9UL69	Missense_Mutation	SNP	ENST00000379359.3	37	c.197C>G	CCDS41880.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545362	0.96488	.	.	ENSG00000102760	ENST00000379359	.	.	.	5.32	5.32	0.75619	.	0.051330	0.85682	D	0.000000	T	0.72890	0.3517	M	0.66939	2.045	0.58432	D	0.999999	D	0.55385	0.971	P	0.53224	0.721	T	0.75488	-0.3300	9	0.56958	D	0.05	-19.2401	18.9743	0.92730	0.0:1.0:0.0:0.0	.	66	Q9H4X1	RGC32_HUMAN	G	66	.	ENSP00000368664:A66G	A	+	2	0	C13orf15	40930568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.791000	0.75120	2.473000	0.83533	0.561000	0.74099	GCC		PASS	0.682	RGCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044684.1	NM_014059		5	0	5	0	---	---	---	---
RB1	5925	broad.mit.edu	37	13	49030452	49030452	+	Nonsense_Mutation	SNP	A	A	T	rs587778866		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr13:49030452A>T	ENST00000267163.4	+	19	2065	c.1927A>T	c.(1927-1929)Aaa>Taa	p.K643*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	643	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.K643*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAAGCCATTGAAATCTACCTC	0.388		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		27	Whole gene deletion(15)|Unknown(10)|Substitution - Nonsense(2)	p.?(6)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(3)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(1927-1929)AAA>TAA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						75.0	72.0	73.0					13																	49030452		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49030452A>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1927A>T	13.37:g.49030452A>T	ENSP00000267163:p.Lys643*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.K643*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	2093	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	643			Pocket; binds T and E1A.|Domain B.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1927A>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	37	6.636297	0.97722	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.97	4.76	0.60689	.	0.189672	0.46442	D	0.000293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1986	0.59754	0.8669:0.1331:0.0:0.0	.	.	.	.	X	622;643	.	ENSP00000267163:K643X	K	+	1	0	RB1	47928453	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.638000	0.67861	1.039000	0.40074	0.533000	0.62120	AAA		PASS	0.388	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			13	7	13	7	---	---	---	---
RCBTB2	1102	broad.mit.edu	37	13	49096059	49096059	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr13:49096059G>T	ENST00000344532.3	-	4	440	c.17C>A	c.(16-18)cCt>cAt	p.P6H	RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000544904.1_Intron|RCBTB2_ENST00000481144.1_Intron|RCBTB2_ENST00000430805.2_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	6					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.P6H(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		AGAGAAAAGAGGAAGTTCTTC	0.443																																						uc001vch.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(16-18)CCT>CAT		regulator of chromosome condensation and BTB							164.0	164.0	164.0					13																	49096059		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49096059G>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.17C>A	13.37:g.49096059G>T	ENSP00000345144:p.Pro6His					RCBTB2_uc010tgg.1_Intron|RCBTB2_uc001vci.2_Intron|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_Intron|RCBTB2_uc010tgi.1_Intron	p.P6H	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	4	388	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	6					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.17C>A	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774458	0.49786	.	.	ENSG00000136161	ENST00000344532	T	0.63913	-0.07	4.83	3.93	0.45458	.	0.116484	0.38548	N	0.001643	T	0.42877	0.1222	N	0.14661	0.345	0.80722	D	1	P	0.36990	0.577	B	0.35770	0.21	T	0.44605	-0.9317	10	0.56958	D	0.05	.	9.7983	0.40748	0.1018:0.0:0.8982:0.0	.	6	O95199	RCBT2_HUMAN	H	6	ENSP00000345144:P6H	ENSP00000345144:P6H	P	-	2	0	RCBTB2	47994060	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	2.504000	0.45416	1.157000	0.42530	0.655000	0.94253	CCT		PASS	0.443	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		5	56	5	56	---	---	---	---
TDRD3	81550	broad.mit.edu	37	13	61083927	61083927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr13:61083927G>T	ENST00000196169.3	+	9	1398	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	TDRD3_ENST00000535286.1_Nonsense_Mutation_p.E297*|TDRD3_ENST00000377881.2_Nonsense_Mutation_p.E204*|TDRD3_ENST00000377894.2_Nonsense_Mutation_p.E204*	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	204	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.E204*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GCACATAACGGAAATGGGCTT	0.413																																					Colon(36;164 906 35820 50723)	uc001via.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(610-612)GAA>TAA		tudor domain containing 3 isoform 2							148.0	148.0	148.0					13																	61083927		2203	4300	6503	SO:0001587	stop_gained	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61083927G>T	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.610G>T	13.37:g.61083927G>T	ENSP00000196169:p.Glu204*					TDRD3_uc010aef.2_Nonsense_Mutation_p.E29*|TDRD3_uc001vhz.3_Nonsense_Mutation_p.E204*|TDRD3_uc010aeg.2_Nonsense_Mutation_p.E297*|TDRD3_uc001vib.3_Nonsense_Mutation_p.E203*	p.E204*	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	9	1398	+		Prostate(109;0.173)|Breast(118;0.174)	204			UBA.		B2MWP9|Q53XA6|Q6P992	Nonsense_Mutation	SNP	ENST00000196169.3	37	c.610G>T	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	39	7.751608	0.98468	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	.	.	.	5.86	5.86	0.93980	.	0.047272	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.8878	20.1931	0.98233	0.0:0.0:1.0:0.0	.	.	.	.	X	204;204;204;297	.	ENSP00000196169:E204X	E	+	1	0	TDRD3	59981928	1.000000	0.71417	0.991000	0.47740	0.888000	0.51559	9.198000	0.94994	2.771000	0.95319	0.563000	0.77884	GAA		PASS	0.413	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		37	12	37	12	---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96513122	96513122	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr13:96513122C>T	ENST00000376747.3	-	32	3730	c.3660G>A	c.(3658-3660)ttG>ttA	p.L1220L		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1220	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.L1220L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTCTTTATGCAAGCTTACTG	0.264																																						uc001vmt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3658-3660)TTG>TTA		UDP-glucose ceramide glucosyltransferase-like 2							47.0	51.0	50.0					13																	96513122		2195	4248	6443	SO:0001819	synonymous_variant	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96513122C>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3660G>A	13.37:g.96513122C>T							p.L1220L	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			32	3830	-			1220			Glucosyltransferase.		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	c.3660G>A	CCDS9480.1																																																																																				PASS	0.264	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		4	6	4	6	---	---	---	---
SLC10A2	6555	broad.mit.edu	37	13	103703676	103703676	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr13:103703676G>T	ENST00000245312.3	-	4	1288	c.692C>A	c.(691-693)aCa>aAa	p.T231K		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	231					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.T231K(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	AGGAAATATTGTTCCTATAAT	0.478																																						uc001vpy.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(691-693)ACA>AAA		solute carrier family 10 (sodium/bile acid							85.0	87.0	86.0					13																	103703676		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103703676G>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.692C>A	13.37:g.103703676G>T	ENSP00000245312:p.Thr231Lys						p.T231K	NM_000452	NP_000443	Q12908	NTCP2_HUMAN			4	1289	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		231			Helical; (Potential).		A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.692C>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859407	0.51376	.	.	ENSG00000125255	ENST00000245312	T	0.08896	3.04	5.46	2.82	0.32997	.	0.207707	0.50627	D	0.000102	T	0.14485	0.0350	M	0.78916	2.43	0.09310	N	0.999999	B	0.33883	0.43	B	0.38880	0.284	T	0.06499	-1.0823	10	0.52906	T	0.07	-23.6947	10.6438	0.45608	0.2082:0.0:0.7918:0.0	.	231	Q12908	NTCP2_HUMAN	K	231	ENSP00000245312:T231K	ENSP00000245312:T231K	T	-	2	0	SLC10A2	102501677	1.000000	0.71417	0.001000	0.08648	0.864000	0.49448	4.120000	0.57897	0.297000	0.22615	0.460000	0.39030	ACA		PASS	0.478	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			31	2	31	2	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612464	20612464	+	Silent	SNP	C	C	A	rs376173734		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:20612464C>A	ENST00000333629.1	+	1	570	c.570C>A	c.(568-570)acC>acA	p.T190T	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T190T(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGCCTGCACCAATACCTTTG	0.532																																						uc010tla.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(568-570)ACC>ACA		olfactory receptor, family 4, subfamily N,		C		0,4406		0,0,2203	106.0	88.0	94.0		570	-7.7	0.1	14		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR4N5	NM_001004724.1		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		190/309	20612464	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612464C>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.570C>A	14.37:g.20612464C>A							p.T190T	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	570	+	all_cancers(95;0.00108)		190			Extracellular (Potential).		Q6IF11	Silent	SNP	ENST00000333629.1	37	c.570C>A	CCDS32031.1																																																																																				PASS	0.532	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			15	25	15	25	---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25042980	25042980	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:25042980C>T	ENST00000216336.2	-	5	667	c.631G>A	c.(631-633)Gcc>Acc	p.A211T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A211T(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ATGCCGTGGGCCACATTGTTA	0.572																																						uc001wpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(631-633)GCC>ACC		cathepsin G preproprotein							95.0	104.0	101.0					14																	25042980		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042980C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.631G>A	14.37:g.25042980C>T	ENSP00000216336:p.Ala211Thr						p.A211T	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	668	-			211			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.631G>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946437	0.53186	.	.	ENSG00000100448	ENST00000216336	D	0.89196	-2.48	4.63	4.63	0.57726	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37669	N	0.001989	D	0.91492	0.7314	L	0.58428	1.81	0.40471	D	0.980343	P	0.50443	0.935	P	0.58660	0.843	D	0.91918	0.5545	10	0.54805	T	0.06	.	13.6967	0.62585	0.0:1.0:0.0:0.0	.	211	P08311	CATG_HUMAN	T	211	ENSP00000216336:A211T	ENSP00000216336:A211T	A	-	1	0	CTSG	24112820	0.975000	0.34042	0.998000	0.56505	0.039000	0.13416	2.390000	0.44416	2.504000	0.84457	0.549000	0.68633	GCC		PASS	0.572	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		22	32	22	32	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35264907	35264907	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:35264907G>T	ENST00000382422.2	-	9	1520	c.1193C>A	c.(1192-1194)cCt>cAt	p.P398H	BAZ1A_ENST00000358716.4_Missense_Mutation_p.P398H|BAZ1A_ENST00000360310.1_Missense_Mutation_p.P398H			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	398					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.P398H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ATCTTCTCTAGGTTTACTCCA	0.323																																						uc001wsk.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(1192-1194)CCT>CAT		bromodomain adjacent to zinc finger domain, 1A							231.0	200.0	210.0					14																	35264907		2202	4300	6502	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35264907G>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1193C>A	14.37:g.35264907G>T	ENSP00000371859:p.Pro398His					BAZ1A_uc001wsl.2_Missense_Mutation_p.P398H	p.P398H	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	10	1761	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		398					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.1193C>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055282	0.75960	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	D;D;D	0.92647	-3.08;-3.08;-3.08	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.942	D	0.95572	0.8639	10	0.72032	D	0.01	.	15.985	0.80144	0.0:0.1347:0.8653:0.0	.	398;398	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	H	398;398;398;82	ENSP00000351555:P398H;ENSP00000371859:P398H;ENSP00000353458:P398H	ENSP00000351555:P398H	P	-	2	0	BAZ1A	34334658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.182000	0.65059	2.656000	0.90262	0.650000	0.86243	CCT		PASS	0.323	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			5	50	5	50	---	---	---	---
RPL10L	140801	broad.mit.edu	37	14	47120763	47120763	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:47120763C>A	ENST00000298283.3	-	1	265	c.177G>T	c.(175-177)caG>caT	p.Q59H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	59					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.Q59H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CAGAAGACAGCTGCTCATATT	0.512																																						uc001wwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)CAG>CAT		ribosomal protein L10-like protein							81.0	83.0	82.0					14																	47120763		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120763C>A	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.177G>T	14.37:g.47120763C>A	ENSP00000298283:p.Gln59His						p.Q59H	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	266	-			59					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.177G>T	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501207	0.64298	.	.	ENSG00000165496	ENST00000298283	T	0.75821	-0.97	4.17	3.24	0.37175	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	M	0.84511	2.7	0.80722	D	1	B	0.28291	0.206	B	0.41666	0.363	T	0.79845	-0.1631	10	0.52906	T	0.07	-43.5016	9.5935	0.39561	0.0:0.8893:0.0:0.1107	.	59	Q96L21	RL10L_HUMAN	H	59	ENSP00000298283:Q59H	ENSP00000298283:Q59H	Q	-	3	2	RPL10L	46190513	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.305000	0.51873	1.277000	0.44412	0.655000	0.94253	CAG		PASS	0.512	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			20	24	20	24	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60213061	60213061	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:60213061A>G	ENST00000267484.5	-	2	715	c.380T>C	c.(379-381)cTt>cCt	p.L127P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	127					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.L127P(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)		TTCCTTCTGAAGAATTCCAGT	0.488																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(379-381)CTT>CCT		reticulon 1 isoform A							54.0	47.0	50.0					14																	60213061		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60213061A>G	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.380T>C	14.37:g.60213061A>G	ENSP00000267484:p.Leu127Pro						p.L127P	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	589	-			127					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.380T>C	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991623	0.54041	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.29142	1.58	5.4	4.18	0.49190	.	0.649129	0.15451	N	0.261670	T	0.44808	0.1311	M	0.71581	2.175	0.54753	D	0.999984	D	0.76494	0.999	D	0.64042	0.921	T	0.52117	-0.8618	10	0.62326	D	0.03	.	1.8685	0.03204	0.551:0.1342:0.0839:0.2309	.	127	Q16799	RTN1_HUMAN	P	127;53	ENSP00000267484:L127P	ENSP00000267484:L127P	L	-	2	0	RTN1	59282814	0.899000	0.30636	0.999000	0.59377	0.983000	0.72400	1.966000	0.40481	2.171000	0.68590	0.455000	0.32223	CTT		PASS	0.488	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			11	16	11	16	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60213190	60213190	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:60213190C>T	ENST00000267484.5	-	2	586	c.251G>A	c.(250-252)gGt>gAt	p.G84D		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	84					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.G84D(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)		ACTGGAAACACCTGCCACACC	0.517																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(250-252)GGT>GAT		reticulon 1 isoform A							72.0	57.0	62.0					14																	60213190		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60213190C>T	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.251G>A	14.37:g.60213190C>T	ENSP00000267484:p.Gly84Asp						p.G84D	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	460	-			84					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.251G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	5.754	0.323513	0.10900	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.20200	2.09	5.5	-4.47	0.03525	.	1.065310	0.07115	N	0.842944	T	0.06554	0.0168	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37337	-0.9710	10	0.09338	T	0.73	.	3.5079	0.07698	0.1086:0.2625:0.4428:0.1861	.	84	Q16799	RTN1_HUMAN	D	84;10	ENSP00000267484:G84D	ENSP00000267484:G84D	G	-	2	0	RTN1	59282943	0.003000	0.15002	0.000000	0.03702	0.071000	0.16799	-0.071000	0.11505	-0.659000	0.05359	-0.262000	0.10625	GGT		PASS	0.517	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			12	9	12	9	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63416964	63416964	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:63416964T>C	ENST00000322893.7	-	7	1524	c.1256A>G	c.(1255-1257)tAc>tGc	p.Y419C	KCNH5_ENST00000394964.2_Missense_Mutation_p.Y361C|KCNH5_ENST00000420622.2_Missense_Mutation_p.Y419C|KCNH5_ENST00000394968.1_Missense_Mutation_p.Y361C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	419					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.Y419C(1)|p.Y361C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGAGGACACGTACAATGAATC	0.478																																						uc001xfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1255-1257)TAC>TGC		potassium voltage-gated channel, subfamily H,							142.0	127.0	132.0					14																	63416964		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63416964T>C	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1256A>G	14.37:g.63416964T>C	ENSP00000321427:p.Tyr419Cys					KCNH5_uc001xfy.2_Missense_Mutation_p.Y419C|KCNH5_uc001xfz.1_Missense_Mutation_p.Y361C|KCNH5_uc001xga.2_Missense_Mutation_p.Y361C	p.Y419C	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1307	-			419			Extracellular (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1256A>G	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.798596	0.70567	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17	5.75	5.75	0.90469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99462	0.9809	H	0.96748	3.875	0.80722	D	1	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	D	0.98245	1.0490	10	0.87932	D	0	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	361;361;419;419	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	C	419;419;361;361	ENSP00000321427:Y419C;ENSP00000395439:Y419C;ENSP00000378419:Y361C;ENSP00000378415:Y361C	ENSP00000321427:Y419C	Y	-	2	0	KCNH5	62486717	1.000000	0.71417	0.107000	0.21349	0.775000	0.43874	8.040000	0.89188	2.194000	0.70268	0.533000	0.62120	TAC		PASS	0.478	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		11	23	11	23	---	---	---	---
RAD51B	5890	broad.mit.edu	37	14	68292250	68292250	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:68292250C>G	ENST00000487270.1	+	3	202	c.154C>G	c.(154-156)Ctt>Gtt	p.L52V	RAD51B_ENST00000390683.3_Missense_Mutation_p.L52V|RAD51B_ENST00000487861.1_Missense_Mutation_p.L52V|RAD51B_ENST00000488612.1_Missense_Mutation_p.L52V|RAD51B_ENST00000471583.1_Missense_Mutation_p.L52V	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	52	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)	p.L52V(3)	HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGTCCATGAACTTCTATGTAT	0.363								Direct reversal of damage																														uc001xkf.1										T					HMGA2		lipoma|uterine leiomyoma		3	Substitution - Missense(3)		lung(3)		0						c.(154-156)CTT>GTT	Direct_reversal_of_damage|Homologous_recombination	RAD51-like 1 isoform 3							135.0	130.0	132.0					14																	68292250		2203	4300	6503	SO:0001583	missense	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68292250C>G	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.154C>G	14.37:g.68292250C>G	ENSP00000419471:p.Leu52Val					RAD51L1_uc010aqq.2_Missense_Mutation_p.L52V|RAD51L1_uc001xkd.2_Missense_Mutation_p.L52V|RAD51L1_uc010aqr.2_5'UTR|RAD51L1_uc001xke.2_Missense_Mutation_p.L52V|RAD51L1_uc010aqs.1_Missense_Mutation_p.L52V|RAD51L1_uc001xkg.1_Missense_Mutation_p.L52V	p.L52V	NM_133509	NP_598193	O15315	RA51B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.163)|all cancers(60;3.9e-06)|OV - Ovarian serous cystadenocarcinoma(108;0.000103)|BRCA - Breast invasive adenocarcinoma(234;0.000421)	3	218	+			52					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	ENST00000487270.1	37	c.154C>G	CCDS9789.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724348	0.48728	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000485181;ENST00000553334;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T;T;T	0.68181	1.05;1.05;1.05;1.05;1.05;-0.31;1.05	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000002	T	0.63815	0.2543	L	0.36672	1.1	0.45227	D	0.998234	P;P;P;P;P;B	0.48503	0.852;0.911;0.909;0.787;0.909;0.328	B;B;B;B;P;B	0.45428	0.353;0.376;0.425;0.219;0.48;0.219	T	0.66594	-0.5884	10	0.59425	D	0.04	-1.666	17.1927	0.86885	0.0:1.0:0.0:0.0	.	52;52;52;52;52;52	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	V	52	ENSP00000419881:L52V;ENSP00000418859:L52V;ENSP00000419471:L52V;ENSP00000420061:L52V;ENSP00000417948:L52V;ENSP00000452044:L52V;ENSP00000375101:L52V	ENSP00000343531:L52V	L	+	1	0	RAD51B	67362003	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.841000	0.62824	2.868000	0.98415	0.557000	0.71058	CTT		PASS	0.363	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			18	23	18	23	---	---	---	---
PSEN1	5663	broad.mit.edu	37	14	73659572	73659572	+	Splice_Site	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:73659572G>A	ENST00000324501.5	+	7	1041	c.769G>A	c.(769-771)Gat>Aat	p.D257N	PSEN1_ENST00000406768.1_Splice_Site_p.D165N|PSEN1_ENST00000357710.4_Splice_Site_p.D253N|PSEN1_ENST00000394164.1_Splice_Site_p.D253N|PSEN1_ENST00000557511.1_Splice_Site_p.D257N|PSEN1_ENST00000344094.3_Splice_Site_p.D257N|PSEN1_ENST00000261970.3_Splice_Site_p.D257N	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	257					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.D257N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TTCAGTATATGGTAAAACCCA	0.423																																						uc001xnr.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(769-771)GAT>AAT		presenilin 1 isoform I-467							131.0	121.0	125.0					14																	73659572		2203	4300	6503	SO:0001630	splice_region_variant	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73659572G>A	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.769+1G>A	14.37:g.73659572G>A						PSEN1_uc001xnv.2_Missense_Mutation_p.D253N|PSEN1_uc010ark.2_Missense_Mutation_p.D253N|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA	p.D257N	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	7	1053	+			257	D->E: Abolishes gamma-secretase activity. Reduces production of amyloid beta in APP processing. Accumulation of full-length PS1. Loss of binding of transition state analog gamma-secretase inhibitor.|D->A: Loss of endoproteolytic cleavage; reduces production of amyloid beta in APP processing and of NICD in NOTCH1 processing.		Helical; (Potential).	Probable.	B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.769G>A	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116951	0.94385	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99917	0.9961	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.96349	0.9257	10	0.87932	D	0	-22.1771	19.824	0.96608	0.0:0.0:1.0:0.0	.	253;257	P49768-2;P49768	.;PSN1_HUMAN	N	257;253;257;257;253;257;165	ENSP00000326366:D257N;ENSP00000350342:D253N;ENSP00000261970:D257N;ENSP00000339523:D257N;ENSP00000377719:D253N;ENSP00000451429:D257N;ENSP00000385948:D165N	ENSP00000261970:D257N	D	+	1	0	PSEN1	72729325	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	9.695000	0.98691	2.699000	0.92147	0.591000	0.81541	GAT		PASS	0.423	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2		Missense_Mutation	19	32	19	32	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75264286	75264286	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:75264286T>G	ENST00000325680.7	+	5	2410	c.2286T>G	c.(2284-2286)ttT>ttG	p.F762L	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.F567L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	567					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.F567L(1)|p.F762L(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTTGTAGATTTGATGGTCCTC	0.408																																						uc001xqj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(2284-2286)TTT>TTG		YLP motif containing 1							14.0	14.0	14.0					14																	75264286		1820	4072	5892	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75264286T>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2286T>G	14.37:g.75264286T>G	ENSP00000324463:p.Phe762Leu					YLPM1_uc001xql.3_RNA	p.F762L	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	2410	+			567					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.2286T>G	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401073	0.42613	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000002	T	0.66147	0.2760	L	0.39633	1.23	0.42605	D	0.993294	D	0.67145	0.996	D	0.73380	0.98	T	0.62895	-0.6757	9	0.26408	T	0.33	-8.6304	14.2794	0.66200	0.0:0.0:0.0:1.0	.	762	P49750-4	.	L	762;567;475	.	ENSP00000238571:F567L	F	+	3	2	YLPM1	74334039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.128000	0.64733	2.165000	0.68154	0.523000	0.50628	TTT		PASS	0.408	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		6	1	6	1	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89087225	89087225	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:89087225A>G	ENST00000380664.5	-	37	5223	c.5224T>C	c.(5224-5226)Tgt>Cgt	p.C1742R	EML5_ENST00000554922.1_Missense_Mutation_p.C1750R|EML5_ENST00000553320.1_5'Flank|EML5_ENST00000352093.5_Missense_Mutation_p.C1704R			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1742						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.C1750R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGGCTGTAACACACAGTACGA	0.343																																						uc001xxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(5248-5250)TGT>CGT		echinoderm microtubule associated protein like							72.0	65.0	67.0					14																	89087225		1891	4108	5999	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89087225A>G	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5224T>C	14.37:g.89087225A>G	ENSP00000370039:p.Cys1742Arg					EML5_uc001xxf.2_Missense_Mutation_p.C537R|EML5_uc001xxd.2_5'Flank|EML5_uc001xxe.2_Missense_Mutation_p.C99R	p.C1750R	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			39	5434	-			1742			WD 26.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.5248T>C	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.331326	0.41297	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664;ENST00000555823	T;T;T;T	0.59772	3.59;3.59;3.59;0.24	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.051505	0.85682	D	0.000000	T	0.54967	0.1891	L	0.55103	1.725	0.80722	D	1	B	0.30584	0.286	B	0.32211	0.142	T	0.53308	-0.8457	10	0.33940	T	0.23	-13.3289	15.6989	0.77528	1.0:0.0:0.0:0.0	.	1742	Q05BV3	EMAL5_HUMAN	R	1750;1704;1742;190	ENSP00000451998:C1750R;ENSP00000298315:C1704R;ENSP00000370039:C1742R;ENSP00000452030:C190R	ENSP00000298315:C1704R	C	-	1	0	EML5	88156978	1.000000	0.71417	0.952000	0.39060	0.982000	0.71751	6.631000	0.74277	2.107000	0.64212	0.482000	0.46254	TGT		PASS	0.343	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			9	11	9	11	---	---	---	---
SERPINA10	51156	broad.mit.edu	37	14	94752583	94752583	+	Silent	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:94752583A>G	ENST00000393096.1	-	4	1470	c.1005T>C	c.(1003-1005)gtT>gtC	p.V335V	SERPINA10_ENST00000554173.1_Silent_p.V335V|SERPINA10_ENST00000261994.4_Silent_p.V335V|SERPINA10_ENST00000554723.1_Silent_p.V375V	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	335					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V335V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCGGAAAGAAAACTTCCATGT	0.408																																						uc001yct.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1003-1005)GTT>GTC		serine (or cysteine) proteinase inhibitor, clade							130.0	120.0	124.0					14																	94752583		2203	4300	6503	SO:0001819	synonymous_variant	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94752583A>G	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1005T>C	14.37:g.94752583A>G						SERPINA10_uc001ycu.3_Silent_p.V335V	p.V335V	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	1471	-		all_cancers(154;0.105)	335					A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	c.1005T>C	CCDS9923.1																																																																																				PASS	0.408	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		10	21	10	21	---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95030166	95030166	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:95030166A>C	ENST00000557004.1	+	2	768	c.347A>C	c.(346-348)gAt>gCt	p.D116A	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.D116A|SERPINA4_ENST00000298841.5_Missense_Mutation_p.D116A			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	116					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D116A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCTGAGTCCGATGTCCATAGG	0.637																																						uc001ydk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(346-348)GAT>GCT		serine (or cysteine) proteinase inhibitor, clade							67.0	65.0	66.0					14																	95030166		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95030166A>C	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.347A>C	14.37:g.95030166A>C	ENSP00000450838:p.Asp116Ala					SERPINA4_uc010avd.2_Missense_Mutation_p.D153A|SERPINA4_uc001ydl.2_Missense_Mutation_p.D116A	p.D116A	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	413	+			116					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.347A>C	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807198	0.50421	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84660	-1.88;-1.88;-1.88	4.38	3.19	0.36642	Serpin domain (3);	0.330199	0.24150	N	0.041097	D	0.84047	0.5386	M	0.62723	1.935	0.21697	N	0.99958	P;P	0.38565	0.592;0.637	B;B	0.43251	0.241;0.413	T	0.75227	-0.3392	10	0.49607	T	0.09	.	10.3505	0.43931	0.8345:0.1655:0.0:0.0	.	116;116	B2R815;P29622	.;KAIN_HUMAN	A	116	ENSP00000450838:D116A;ENSP00000451172:D116A;ENSP00000298841:D116A	ENSP00000298841:D116A	D	+	2	0	SERPINA4	94099919	0.064000	0.20934	0.001000	0.08648	0.015000	0.08874	1.888000	0.39708	0.621000	0.30232	0.460000	0.39030	GAT		PASS	0.637	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		8	28	8	28	---	---	---	---
EXOC3L4	91828	broad.mit.edu	37	14	103574849	103574849	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:103574849C>T	ENST00000380069.3	+	10	2047	c.1971C>T	c.(1969-1971)gaC>gaT	p.D657D		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	657					exocytosis (GO:0006887)	exocyst (GO:0000145)		p.D657D(1)		cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCTACCCCGACATCAGGTGTG	0.597																																						uc001ymk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1969-1971)GAC>GAT		hypothetical protein LOC91828							164.0	145.0	151.0					14																	103574849		2203	4300	6503	SO:0001819	synonymous_variant	91828							g.chr14:103574849C>T	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1971C>T	14.37:g.103574849C>T							p.D657D	NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Epithelial(46;0.221)		10	2047	+		Melanoma(154;0.155)	657					Q14CR2	Silent	SNP	ENST00000380069.3	37	c.1971C>T	CCDS32163.1																																																																																				PASS	0.597	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		37	61	37	61	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105406088	105406088	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:105406088C>T	ENST00000333244.5	-	7	15819	c.15700G>A	c.(15700-15702)Gag>Aag	p.E5234K	AHNAK2_ENST00000557457.1_Missense_Mutation_p.E232K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5234						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E5234K(1)|p.E204K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAAGGAACTCTTTGACTTTA	0.552																																						uc010axc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(15700-15702)GAG>AAG		AHNAK nucleoprotein 2							262.0	283.0	276.0					14																	105406088		2054	4192	6246	SO:0001583	missense	113146					nucleus		g.chr14:105406088C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15700G>A	14.37:g.105406088C>T	ENSP00000353114:p.Glu5234Lys					AHNAK2_uc001ypx.2_Missense_Mutation_p.E5134K	p.E5234K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15820	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5234					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.15700G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	11.56	1.676454	0.29783	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03065	4.06;5.4	4.3	1.28	0.21552	.	7.781930	0.00496	U	0.000147	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	B	0.15930	0.015	B	0.19391	0.025	T	0.42666	-0.9438	10	0.05620	T	0.96	.	6.7754	0.23617	0.0:0.5427:0.3029:0.1544	.	5234	Q8IVF2	AHNK2_HUMAN	K	232;5234	ENSP00000450998:E232K;ENSP00000353114:E5234K	ENSP00000353114:E5234K	E	-	1	0	AHNAK2	104477133	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.264000	0.18497	0.364000	0.24374	-0.225000	0.12378	GAG		PASS	0.552	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		19	217	19	217	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105410247	105410247	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr14:105410247C>G	ENST00000333244.5	-	7	11660	c.11541G>C	c.(11539-11541)aaG>aaC	p.K3847N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3847						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.K3847N(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTCAGTGGTCTTGAGGTCCC	0.637																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(11539-11541)AAG>AAC		AHNAK nucleoprotein 2							153.0	155.0	154.0					14																	105410247		2011	4173	6184	SO:0001583	missense	113146					nucleus		g.chr14:105410247C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11541G>C	14.37:g.105410247C>G	ENSP00000353114:p.Lys3847Asn					AHNAK2_uc001ypx.2_Missense_Mutation_p.K3747N	p.K3847N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11661	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3847					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11541G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	14.20	2.463868	0.43736	.	.	ENSG00000185567	ENST00000333244	T	0.02280	4.36	4.33	0.393	0.16294	.	.	.	.	.	T	0.04861	0.0131	M	0.85041	2.73	0.09310	N	1	B	0.33044	0.395	B	0.36289	0.221	T	0.27297	-1.0078	9	0.27082	T	0.32	.	8.1893	0.31359	0.0:0.5779:0.0:0.4221	.	3847	Q8IVF2	AHNK2_HUMAN	N	3847	ENSP00000353114:K3847N	ENSP00000353114:K3847N	K	-	3	2	AHNAK2	104481292	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-2.035000	0.01423	0.287000	0.22375	0.491000	0.48974	AAG		PASS	0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	151	7	151	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30024886	30024886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr15:30024886G>A	ENST00000346128.6	-	14	2344	c.1870C>T	c.(1870-1872)Cag>Tag	p.Q624*	TJP1_ENST00000400011.2_Nonsense_Mutation_p.Q628*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.Q624*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.Q624*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	624	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.Q624*(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGAACAGGCTGAGCGGACAAA	0.433																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1870-1872)CAG>TAG		tight junction protein 1 isoform a							79.0	77.0	77.0					15																	30024886		1829	4091	5920	SO:0001587	stop_gained	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30024886G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1870C>T	15.37:g.30024886G>A	ENSP00000281537:p.Gln624*					TJP1_uc010azl.2_Nonsense_Mutation_p.Q612*|TJP1_uc001zcq.2_Nonsense_Mutation_p.Q628*|TJP1_uc001zcs.2_Nonsense_Mutation_p.Q624*	p.Q624*	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	14	2345	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	624			Guanylate kinase-like.		B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	37	c.1870C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	39	7.613614	0.98390	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	.	.	.	X	624;628;624;624;624	.	.	Q	-	1	0	TJP1	27812178	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.745000	0.94114	0.655000	0.94253	CAG		PASS	0.433	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		36	9	36	9	---	---	---	---
SPINT1	6692	broad.mit.edu	37	15	41145767	41145767	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr15:41145767C>A	ENST00000344051.4	+	4	918	c.684C>A	c.(682-684)gaC>gaA	p.D228E	SPINT1_ENST00000562057.1_Missense_Mutation_p.D228E|SPINT1_ENST00000431806.1_Missense_Mutation_p.D228E			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	228					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D228E(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTAGCTCAGACCACCCAGAGG	0.592																																						uc001zna.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(682-684)GAC>GAA		serine peptidase inhibitor, Kunitz type 1							73.0	57.0	62.0					15																	41145767		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41145767C>A		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.684C>A	15.37:g.41145767C>A	ENSP00000342098:p.Asp228Glu					SPINT1_uc001znb.2_Missense_Mutation_p.D228E|SPINT1_uc001znc.2_Missense_Mutation_p.D228E|SPINT1_uc010ucs.1_Missense_Mutation_p.D228E	p.D228E	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	4	888	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	228					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.684C>A	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260755	0.23051	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95272	-3.66;-3.66	5.34	0.851	0.18989	.	0.355046	0.31834	N	0.006989	D	0.91583	0.7341	L	0.59436	1.845	0.09310	N	1	D;P;P	0.60575	0.988;0.916;0.937	P;P;B	0.52343	0.696;0.652;0.381	D	0.83520	0.0085	10	0.05959	T	0.93	-21.0257	4.9092	0.13812	0.3154:0.2496:0.3688:0.0663	.	228;228;228	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	E	228;195;228	ENSP00000342098:D228E;ENSP00000409935:D228E	ENSP00000342098:D228E	D	+	3	2	SPINT1	38933059	0.000000	0.05858	0.025000	0.17156	0.537000	0.34900	-0.711000	0.05019	-0.117000	0.11872	0.491000	0.48974	GAC		PASS	0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		11	10	11	10	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43769871	43769871	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr15:43769871C>A	ENST00000263801.3	-	8	1112	c.860G>T	c.(859-861)aGt>aTt	p.S287I	TP53BP1_ENST00000382039.3_Missense_Mutation_p.S292I|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S292I|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S292I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	287					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.S287I(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGCAGTCCACTTTCCATAAG	0.438								Other conserved DNA damage response genes																														uc001zrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(859-861)AGT>ATT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							142.0	138.0	139.0					15																	43769871		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43769871C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.860G>T	15.37:g.43769871C>A	ENSP00000263801:p.Ser287Ile					TP53BP1_uc010udp.1_Missense_Mutation_p.S287I|TP53BP1_uc001zrq.3_Missense_Mutation_p.S292I|TP53BP1_uc001zrr.3_Missense_Mutation_p.S292I|TP53BP1_uc010udq.1_Missense_Mutation_p.S292I	p.S287I	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	8	1008	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	287					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.860G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277461	0.23307	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.12465	3.49;3.49;3.49;3.49;2.68	5.52	2.61	0.31194	.	0.721487	0.13704	N	0.368597	T	0.09992	0.0245	L	0.27053	0.805	0.21147	N	0.999773	B;B;B;B	0.27068	0.112;0.167;0.017;0.017	B;B;B;B	0.28011	0.021;0.085;0.006;0.006	T	0.30090	-0.9990	10	0.44086	T	0.13	0.0227	7.9103	0.29787	0.0:0.7395:0.0:0.2605	.	292;287;292;292	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	I	287;292;292;292;292	ENSP00000263801:S287I;ENSP00000371475:S292I;ENSP00000371470:S292I;ENSP00000393497:S292I;ENSP00000388028:S292I	ENSP00000263801:S287I	S	-	2	0	TP53BP1	41557163	0.628000	0.27138	0.079000	0.20413	0.428000	0.31595	0.499000	0.22546	0.285000	0.22329	0.555000	0.69702	AGT		PASS	0.438	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			28	28	28	28	---	---	---	---
SEMA7A	8482	broad.mit.edu	37	15	74704328	74704328	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr15:74704328C>T	ENST00000261918.4	-	11	1868	c.1320G>A	c.(1318-1320)gtG>gtA	p.V440V	SEMA7A_ENST00000542748.1_Silent_p.V275V|SEMA7A_ENST00000543145.2_Silent_p.V426V	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	440	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V440V(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CCCCCGGTTCCACCACCTTGT	0.637																																						uc002axv.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1318-1320)GTG>GTA		semaphorin 7A isoform 1 preproprotein							103.0	70.0	81.0					15																	74704328		2197	4296	6493	SO:0001819	synonymous_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74704328C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1320G>A	15.37:g.74704328C>T						SEMA7A_uc010ulk.1_Silent_p.V275V|SEMA7A_uc010ull.1_Silent_p.V426V	p.V440V	NM_003612	NP_003603	O75326	SEM7A_HUMAN			11	1360	-			440			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	c.1320G>A	CCDS10262.1																																																																																				PASS	0.637	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		9	38	9	38	---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75656914	75656914	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr15:75656914T>A	ENST00000267978.5	-	5	561	c.515A>T	c.(514-516)cAg>cTg	p.Q172L	MAN2C1_ENST00000563622.1_Missense_Mutation_p.Q172L|MAN2C1_ENST00000569482.1_Missense_Mutation_p.Q172L|MAN2C1_ENST00000565683.1_Missense_Mutation_p.Q172L|MAN2C1_ENST00000563539.1_5'UTR	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	172					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.Q172L(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCGGCTCAGCTGGAACATCTT	0.592																																						uc002baf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)CAG>CTG		mannosidase, alpha, class 2C, member 1							54.0	45.0	48.0					15																	75656914		2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75656914T>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.515A>T	15.37:g.75656914T>A	ENSP00000267978:p.Gln172Leu					MAN2C1_uc002bag.2_Missense_Mutation_p.Q172L|MAN2C1_uc002bah.2_Missense_Mutation_p.Q172L|MAN2C1_uc010bkk.2_Missense_Mutation_p.Q172L|MAN2C1_uc010umi.1_Intron|MAN2C1_uc010umj.1_RNA|MAN2C1_uc010umk.1_RNA	p.Q172L	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			5	532	-			172					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.515A>T	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	t	10.64	1.408189	0.25378	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.18174	2.23	4.9	-0.52	0.11935	.	0.589458	0.18344	N	0.144099	T	0.12561	0.0305	L	0.49126	1.545	0.23978	N	0.996285	B;B;B	0.15473	0.013;0.004;0.004	B;B;B	0.17979	0.02;0.009;0.009	T	0.23833	-1.0177	10	0.27082	T	0.32	-6.9308	5.5581	0.17127	0.0:0.3963:0.2679:0.3359	.	172;172;172	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	L	172	ENSP00000267978:Q172L	ENSP00000267978:Q172L	Q	-	2	0	MAN2C1	73443967	0.847000	0.29606	0.996000	0.52242	0.511000	0.34104	0.646000	0.24797	0.235000	0.21160	-0.602000	0.04101	CAG		PASS	0.592	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			11	13	11	13	---	---	---	---
FBXO22	26263	broad.mit.edu	37	15	76205551	76205551	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr15:76205551G>A	ENST00000308275.3	+	3	392	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FBXO22_ENST00000540507.1_5'UTR|FBXO22_ENST00000453211.2_Missense_Mutation_p.R96H	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	96					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.R96H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGAATGTTCGCATCTTACCA	0.388																																						uc002bbk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(286-288)CGC>CAC		F-box only protein 22 isoform a							67.0	71.0	70.0					15																	76205551		2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76205551G>A	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.287G>A	15.37:g.76205551G>A	ENSP00000307833:p.Arg96His					FBXO22_uc002bbj.1_Missense_Mutation_p.R96H|FBXO22_uc002bbl.2_5'UTR	p.R96H	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			3	392	+			96					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.287G>A	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	5.950	0.359355	0.11239	.	.	ENSG00000167196	ENST00000308275;ENST00000453211	.	.	.	5.95	-2.7	0.06004	.	0.409490	0.29676	N	0.011486	T	0.18635	0.0447	N	0.01352	-0.895	0.51233	D	0.999912	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.14559	-1.0468	9	0.14252	T	0.57	-3.1292	11.672	0.51408	0.7046:0.0:0.2954:0.0	.	96;96	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	H	96	.	ENSP00000307833:R96H	R	+	2	0	FBXO22	73992606	0.883000	0.30277	0.142000	0.22268	0.820000	0.46376	0.269000	0.18589	-0.759000	0.04684	-0.793000	0.03317	CGC		PASS	0.388	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		14	40	14	40	---	---	---	---
TMED3	23423	broad.mit.edu	37	15	79606172	79606172	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr15:79606172C>T	ENST00000299705.5	+	2	430	c.242C>T	c.(241-243)aCg>aTg	p.T81M	TMED3_ENST00000424155.2_Missense_Mutation_p.T81M|TMED3_ENST00000536821.1_Missense_Mutation_p.T81M	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	81	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T81M(1)		large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						TACAGAGAAACGAAGAAGCAG	0.478																																						uc002beu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(241-243)ACG>ATG		transmembrane emp24 domain containing 3							159.0	138.0	145.0					15																	79606172		2196	4293	6489	SO:0001583	missense	23423				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane		g.chr15:79606172C>T	BC022232	CCDS10310.1, CCDS73768.1	15q24-q25	2011-02-09	2005-08-26	2005-01-07	ENSG00000166557	ENSG00000166557			28889	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 22"", ""transmembrane emp24 domain containing 3"""	C15orf22		12975309	Standard	XM_005254263		Approved	p24B	uc002beu.3	Q9Y3Q3	OTTHUMG00000144170	ENST00000299705.5:c.242C>T	15.37:g.79606172C>T	ENSP00000299705:p.Thr81Met					TMED3_uc010unj.1_Missense_Mutation_p.T81M|TMED3_uc002bev.2_RNA	p.T81M	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN			2	343	+			81			Lumenal (Potential).|GOLD.		A8K069|B4DN05|Q2T9F8	Missense_Mutation	SNP	ENST00000299705.5	37	c.242C>T	CCDS10310.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867634	0.32977	.	.	ENSG00000166557	ENST00000299705;ENST00000424155;ENST00000536821;ENST00000543455	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	4.54	4.54	0.55810	GOLD (3);	0.199119	0.43416	D	0.000574	T	0.09512	0.0234	N	0.11845	0.185	0.42153	D	0.991562	P;P	0.39601	0.68;0.538	B;B	0.38842	0.283;0.157	T	0.12243	-1.0555	10	0.38643	T	0.18	-2.2038	8.6972	0.34303	0.0:0.8978:0.0:0.1022	.	81;81	B4DN05;Q9Y3Q3	.;TMED3_HUMAN	M	81	ENSP00000299705:T81M;ENSP00000414983:T81M;ENSP00000446062:T81M;ENSP00000440228:T81M	ENSP00000299705:T81M	T	+	2	0	TMED3	77393227	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	1.100000	0.31025	2.501000	0.84356	0.655000	0.94253	ACG		PASS	0.478	TMED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291369.1	NM_007364		26	70	26	70	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86198831	86198831	+	Missense_Mutation	SNP	G	G	A	rs534473998		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr15:86198831G>A	ENST00000394518.2	+	11	4653	c.4558G>A	c.(4558-4560)Ggt>Agt	p.G1520S	RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.G1520S	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1520					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.G1520S(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGGAGCTGAGGGTCGAGAAAG	0.527																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(4558-4560)GGT>AGT		A-kinase anchor protein 13 isoform 2							158.0	133.0	141.0					15																	86198831		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86198831G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4558G>A	15.37:g.86198831G>A	ENSP00000378026:p.Gly1520Ser					AKAP13_uc002blt.1_Missense_Mutation_p.G1520S|AKAP13_uc002blu.1_Missense_Mutation_p.G1520S|AKAP13_uc010bnf.1_Missense_Mutation_p.G160S|AKAP13_uc002blw.1_Missense_Mutation_p.G5S|AKAP13_uc010bne.1_Missense_Mutation_p.G173S	p.G1520S	NM_007200	NP_009131	Q12802	AKP13_HUMAN			11	4728	+			1520					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.4558G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187655	0.38609	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.47528	0.84;0.84	5.91	2.92	0.33932	.	.	.	.	.	T	0.34106	0.0886	L	0.38838	1.175	0.80722	D	1	B;B;B	0.31193	0.312;0.208;0.312	B;B;B	0.29524	0.103;0.048;0.103	T	0.06303	-1.0834	9	0.37606	T	0.19	.	8.2431	0.31671	0.1444:0.1292:0.7263:0.0	.	1520;1520;1520	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	S	1520;1520;1519;1519;160	ENSP00000354718:G1520S;ENSP00000378026:G1520S	ENSP00000354718:G1520S	G	+	1	0	AKAP13	83999835	1.000000	0.71417	0.073000	0.20177	0.943000	0.58893	2.492000	0.45311	0.358000	0.24211	0.655000	0.94253	GGT		PASS	0.527	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		6	54	6	54	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101872090	101872090	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr15:101872090C>T	ENST00000348070.1	-	15	2001	c.2002G>A	c.(2002-2004)Gtg>Atg	p.V668M	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.V668M|RP11-299G20.3_ENST00000558696.1_RNA	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	669					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.V668M(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAACTTCCACCTGGGAGGGT	0.572																																						uc002bwy.2																			2	Substitution - Missense(2)		lung(2)	pancreas(2)	2						c.(2005-2007)GTG>ATG		paired basic amino acid cleaving system 4							51.0	55.0	53.0					15																	101872090		1974	4158	6132	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101872090C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2002G>A	15.37:g.101872090C>T	ENSP00000305056:p.Val668Met					PCSK6_uc010bpd.2_Missense_Mutation_p.V465M|PCSK6_uc010bpe.2_Missense_Mutation_p.V669M|PCSK6_uc002bxa.2_Missense_Mutation_p.V669M|PCSK6_uc002bxb.2_Missense_Mutation_p.V669M	p.V669M	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		15	2319	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		669					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.2005G>A		.	.	.	.	.	.	.	.	.	.	C	4.852	0.158401	0.09236	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T;T	0.67171	-0.09;-0.09;-0.25	5.82	-5.35	0.02697	.	2508.690000	0.00166	N	0.000000	T	0.52158	0.1717	L	0.46157	1.445	0.09310	N	0.999999	P;B;B;B;P	0.35923	0.528;0.162;0.053;0.081;0.528	B;B;B;B;B	0.32393	0.145;0.09;0.005;0.014;0.145	T	0.41945	-0.9480	10	0.38643	T	0.18	-0.5834	3.0325	0.06111	0.0863:0.2679:0.2747:0.3711	.	669;500;669;669;668	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	M	668;668;499	ENSP00000305056:V668M;ENSP00000351193:V668M;ENSP00000381246:V499M	ENSP00000305056:V668M	V	-	1	0	PCSK6	99689613	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-1.128000	0.03247	-1.578000	0.01648	-0.813000	0.03139	GTG		PASS	0.572	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		5	18	5	18	---	---	---	---
GLIS2	84662	broad.mit.edu	37	16	4385313	4385313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr16:4385313G>T	ENST00000262366.3	+	7	1515	c.694G>T	c.(694-696)Gag>Tag	p.E232*	RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Nonsense_Mutation_p.E232*			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	232					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.E232*(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACACACCAACGAGAAGCCACA	0.642																																						uc002cwc.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(694-696)GAG>TAG		GLIS family zinc finger 2							97.0	95.0	96.0					16																	4385313		2196	4300	6496	SO:0001587	stop_gained	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4385313G>T	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.694G>T	16.37:g.4385313G>T	ENSP00000262366:p.Glu232*						p.E232*	NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN			5	751	+			232					B3KX84	Nonsense_Mutation	SNP	ENST00000262366.3	37	c.694G>T	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	G	45	11.717775	0.99594	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	.	.	.	5.53	5.53	0.82687	.	0.132067	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2987	0.90155	0.0:0.0:1.0:0.0	.	.	.	.	X	232	.	ENSP00000262366:E232X	E	+	1	0	GLIS2	4325314	1.000000	0.71417	0.987000	0.45799	0.948000	0.59901	9.605000	0.98321	2.615000	0.88500	0.555000	0.69702	GAG		PASS	0.642	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		3	31	3	31	---	---	---	---
PPL	5493	broad.mit.edu	37	16	4934563	4934563	+	Silent	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr16:4934563G>T	ENST00000345988.2	-	22	4182	c.4093C>A	c.(4093-4095)Cgg>Agg	p.R1365R	PPL_ENST00000590782.2_Silent_p.R1363R	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1365					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R1365R(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCCTCGGCCCGCAGGCCTGGC	0.672																																						uc002cyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4093-4095)CGG>AGG		periplakin							115.0	125.0	122.0					16																	4934563		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934563G>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4093C>A	16.37:g.4934563G>T							p.R1365R	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	4183	-			1365			Potential.		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4093C>A	CCDS10526.1																																																																																				PASS	0.672	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		6	120	6	120	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20565107	20565107	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr16:20565107C>T	ENST00000329697.6	-	5	900	c.732G>A	c.(730-732)atG>atA	p.M244I	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.M244I|ACSM2B_ENST00000567001.1_Missense_Mutation_p.M244I|ACSM2B_ENST00000565322.1_Missense_Mutation_p.M165I	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	244					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.M244I(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCCAGCATCCATCTTGGCCT	0.517																																						uc002dhj.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(730-732)ATG>ATA		acyl-CoA synthetase medium-chain family member							86.0	82.0	83.0					16																	20565107		2201	4299	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20565107C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.732G>A	16.37:g.20565107C>T	ENSP00000327453:p.Met244Ile					ACSM2B_uc002dhk.3_Missense_Mutation_p.M244I|ACSM2B_uc010bwf.1_Missense_Mutation_p.M244I	p.M244I	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			6	942	-			244					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.732G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	0.064	-1.217011	0.01542	.	.	ENSG00000066813	ENST00000329697	T	0.47869	0.83	3.23	-0.0226	0.13947	AMP-dependent synthetase/ligase (1);	0.367137	0.23288	N	0.049834	T	0.20577	0.0495	N	0.04260	-0.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.02603	-1.1135	10	0.48119	T	0.1	-9.9135	5.7516	0.18150	0.0:0.6114:0.0:0.3886	.	244;244	A8K051;Q68CK6	.;ACS2B_HUMAN	I	244	ENSP00000327453:M244I	ENSP00000327453:M244I	M	-	3	0	ACSM2B	20472608	0.994000	0.37717	0.877000	0.34402	0.146000	0.21551	0.529000	0.23019	-0.076000	0.12775	-0.351000	0.07748	ATG		PASS	0.517	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		23	46	23	46	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30735282	30735282	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr16:30735282C>A	ENST00000262518.4	+	25	4922	c.4537C>A	c.(4537-4539)Cca>Aca	p.P1513T	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1355T|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1451T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1513	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.P1513T(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCACAGCTCCATCCCTGTC	0.582																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4537-4539)CCA>ACA		Snf2-related CBP activator protein							92.0	80.0	84.0					16																	30735282		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30735282C>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4537C>A	16.37:g.30735282C>A	ENSP00000262518:p.Pro1513Thr					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P1308T|SRCAP_uc010bzz.1_Missense_Mutation_p.P1083T	p.P1513T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	4922	+			1513			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.4537C>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745302	0.30955	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94862	-3.54;-3.45;-2.95	5.8	1.56	0.23342	.	0.362044	0.24120	N	0.041377	D	0.87497	0.6192	N	0.19112	0.55	0.23314	N	0.997928	P;P;B	0.35575	0.51;0.51;0.376	B;B;B	0.36666	0.23;0.23;0.115	T	0.80694	-0.1268	10	0.72032	D	0.01	-1.0759	6.6939	0.23187	0.0:0.6466:0.1286:0.2248	.	1355;1451;1513	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	T	1513;1451;1355	ENSP00000262518:P1513T;ENSP00000378499:P1451T;ENSP00000343042:P1355T	ENSP00000262518:P1513T	P	+	1	0	SRCAP	30642783	0.000000	0.05858	0.999000	0.59377	0.899000	0.52679	0.333000	0.19768	0.354000	0.24105	0.460000	0.39030	CCA		PASS	0.582	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		14	42	14	42	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30990990	30990990	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr16:30990990C>T	ENST00000262519.8	+	14	4569	c.3883C>T	c.(3883-3885)Cac>Tac	p.H1295Y		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1295					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H1295Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCTGCTCAGCCACATCCTCCT	0.721																																						uc002ead.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3883-3885)CAC>TAC		SET domain containing 1A							18.0	23.0	21.0					16																	30990990		2179	4266	6445	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30990990C>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3883C>T	16.37:g.30990990C>T	ENSP00000262519:p.His1295Tyr						p.H1295Y	NM_014712	NP_055527	O15047	SET1A_HUMAN			14	4569	+			1295					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.3883C>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304875	0.23736	.	.	ENSG00000099381	ENST00000262519	D	0.94138	-3.36	4.96	4.0	0.46444	.	0.453240	0.24240	N	0.040265	D	0.88202	0.6373	N	0.24115	0.695	0.25002	N	0.991469	D	0.54601	0.967	B	0.44044	0.439	T	0.83259	-0.0049	10	0.72032	D	0.01	.	11.6452	0.51257	0.0:0.9115:0.0:0.0885	.	1295	O15047	SET1A_HUMAN	Y	1295	ENSP00000262519:H1295Y	ENSP00000262519:H1295Y	H	+	1	0	SETD1A	30898491	0.002000	0.14202	1.000000	0.80357	0.422000	0.31414	0.404000	0.20999	2.292000	0.77174	0.563000	0.77884	CAC		PASS	0.721	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		8	10	8	10	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31382733	31382733	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr16:31382733G>A	ENST00000268296.4	+	16	2041	c.1920G>A	c.(1918-1920)cgG>cgA	p.R640R	ITGAX_ENST00000562522.1_Silent_p.R640R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	640					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R640R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TTGAGTGTCGGGAGCAGGTGG	0.592																																						uc002ebu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1918-1920)CGG>CGA		integrin alpha X precursor							81.0	61.0	68.0					16																	31382733		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382733G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1920G>A	16.37:g.31382733G>A						ITGAX_uc002ebt.2_Silent_p.R640R	p.R640R	NM_000887	NP_000878	P20702	ITAX_HUMAN			16	1987	+			640			Extracellular (Potential).		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1920G>A	CCDS10711.1																																																																																				PASS	0.592	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		5	24	5	24	---	---	---	---
N4BP1	9683	broad.mit.edu	37	16	48594834	48594834	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr16:48594834C>A	ENST00000262384.3	-	2	1956	c.1720G>T	c.(1720-1722)Gtt>Ttt	p.V574F	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	574					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.V574F(1)|p.V621F(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GCATCAGTAACCGAAGGTAAC	0.453																																						uc002efp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1720-1722)GTT>TTT		Nedd4 binding protein 1							123.0	121.0	122.0					16																	48594834		1924	4120	6044	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48594834C>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1720G>T	16.37:g.48594834C>A	ENSP00000262384:p.Val574Phe						p.V574F	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	1957	-		all_cancers(37;0.179)|all_lung(18;0.11)	574					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.1720G>T	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	3.120	-0.180810	0.06380	.	.	ENSG00000102921	ENST00000262384	T	0.47177	0.85	5.94	1.67	0.24075	.	0.465201	0.19026	N	0.124698	T	0.23289	0.0563	L	0.27053	0.805	0.09310	N	1	B	0.31730	0.337	B	0.28232	0.087	T	0.08351	-1.0726	10	0.11485	T	0.65	-0.1279	1.5234	0.02520	0.2484:0.4293:0.1212:0.2012	.	574	O75113	N4BP1_HUMAN	F	574	ENSP00000262384:V574F	ENSP00000262384:V574F	V	-	1	0	N4BP1	47152335	0.001000	0.12720	0.008000	0.14137	0.030000	0.12068	0.270000	0.18607	0.382000	0.24878	-0.293000	0.09583	GTT		PASS	0.453	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		74	51	74	51	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67293564	67293564	+	Splice_Site	SNP	T	T	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr16:67293564T>G	ENST00000299798.11	+	11	1780	c.1715T>G	c.(1714-1716)cTg>cGg	p.L572R	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	572					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.L572R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		ACCAACCTGCTGTGAGTCCTT	0.552																																						uc002esm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1714-1716)CTG>CGG		solute carrier family 9 (sodium/hydrogen							77.0	79.0	78.0					16																	67293564		2065	4215	6280	SO:0001630	splice_region_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67293564T>G		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1715+1T>G	16.37:g.67293564T>G						SLC9A5_uc010cee.2_Missense_Mutation_p.L277R|SLC9A5_uc010vji.1_Missense_Mutation_p.L76R|uc002esn.1_5'Flank	p.L572R	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	11	1778	+		Ovarian(137;0.0563)	572					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1715T>G	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794884	0.50102	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.59502	0.26	4.82	4.82	0.62117	.	0.188780	0.35555	N	0.003139	T	0.54464	0.1860	M	0.63843	1.955	0.80722	D	1	B;B	0.33448	0.412;0.005	B;B	0.32583	0.148;0.005	T	0.56402	-0.7985	10	0.37606	T	0.19	.	13.9997	0.64427	0.0:0.0:0.0:1.0	.	60;572	F8WDV9;Q14940	.;SL9A5_HUMAN	R	572;60	ENSP00000299798:L572R	ENSP00000299798:L572R	L	+	2	0	SLC9A5	65851065	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	6.882000	0.75589	2.161000	0.67846	0.379000	0.24179	CTG		PASS	0.552	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1		Missense_Mutation	9	27	9	27	---	---	---	---
SMPD3	55512	broad.mit.edu	37	16	68405203	68405203	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr16:68405203G>T	ENST00000219334.5	-	3	1485	c.882C>A	c.(880-882)agC>agA	p.S294R	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000563226.1_Missense_Mutation_p.S294R|SMPD3_ENST00000568373.1_Missense_Mutation_p.S294R	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	294					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.S294R(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGGCCGAGGGGCTGCCCAGGC	0.697																																						uc002ewa.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(880-882)AGC>AGA		neutral sphingomyelin phosphodiesterase 3	Phosphatidylserine(DB00144)						21.0	25.0	24.0					16																	68405203		2195	4297	6492	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68405203G>T	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.882C>A	16.37:g.68405203G>T	ENSP00000219334:p.Ser294Arg					SMPD3_uc010cfe.2_Missense_Mutation_p.S294R|SMPD3_uc010vlh.1_Missense_Mutation_p.S294R	p.S294R	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1304	-		Ovarian(137;0.0563)	294			Lumenal (Potential).		B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.882C>A	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.632076	0.67015	.	.	ENSG00000103056	ENST00000219334	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.29908	0.895	0.54753	D	0.99998	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.80764	0.994;0.994;0.994	T	0.64719	-0.6341	9	0.62326	D	0.03	-28.2906	9.796	0.40735	0.0942:0.0:0.9058:0.0	.	294;294;294	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	R	294	.	ENSP00000219334:S294R	S	-	3	2	SMPD3	66962704	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.658000	0.54482	2.406000	0.81754	0.462000	0.41574	AGC		PASS	0.697	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		5	15	5	15	---	---	---	---
CDH13	1012	broad.mit.edu	37	16	83251007	83251007	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr16:83251007G>A	ENST00000566620.1	+	5	831	c.541G>A	c.(541-543)Gat>Aat	p.D181N	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.D228N|CDH13_ENST00000428848.3_Missense_Mutation_p.D142N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	181	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.D181N(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAAGGGAGTGGATCAAGAGCC	0.463																																						uc002fgx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(541-543)GAT>AAT		cadherin 13 preproprotein							94.0	95.0	95.0					16																	83251007		1903	4111	6014	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83251007G>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.541G>A	16.37:g.83251007G>A	ENSP00000454435:p.Asp181Asn					CDH13_uc010vns.1_Missense_Mutation_p.D228N|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Missense_Mutation_p.D142N	p.D181N	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	5	661	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	181			Cadherin 1.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.541G>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128831	0.94473	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.49432	0.78	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67543	0.2904	M	0.64676	1.99	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.989	D;P;D	0.85130	0.997;0.894;0.985	T	0.68503	-0.5391	9	0.72032	D	0.01	.	17.4882	0.87694	0.0:0.0:1.0:0.0	.	142;228;181	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	N	228;181;142	ENSP00000268613:D228N	ENSP00000268613:D228N	D	+	1	0	CDH13	81808508	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.862000	0.75484	2.720000	0.93068	0.557000	0.71058	GAT		PASS	0.463	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		15	76	15	76	---	---	---	---
KCNG4	93107	broad.mit.edu	37	16	84256194	84256194	+	Missense_Mutation	SNP	C	C	T	rs374161403		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr16:84256194C>T	ENST00000308251.4	-	3	1257	c.1189G>A	c.(1189-1191)Ggg>Agg	p.G397R		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	397					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.G397R(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGCACCCGCCCGGACTCCTTC	0.642																																						uc010voc.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1189-1191)GGG>AGG		potassium voltage-gated channel, subfamily G,		C	ARG/GLY	0,4390		0,0,2195	22.0	21.0	21.0		1189	5.6	0.6	16		21	2,8596		0,2,4297	no	missense	KCNG4	NM_172347.2	125	0,2,6492	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	397/520	84256194	2,12986	2195	4299	6494	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256194C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1189G>A	16.37:g.84256194C>T	ENSP00000312129:p.Gly397Arg						p.G397R	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			3	1310	-			397					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.1189G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597881	0.66332	0.0	2.33E-4	ENSG00000168418	ENST00000308251	D	0.97772	-4.53	5.61	5.61	0.85477	Ion transport (1);	0.834699	0.10787	N	0.634232	D	0.98538	0.9512	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97577	1.0108	10	0.51188	T	0.08	.	18.6265	0.91342	0.0:1.0:0.0:0.0	.	397	Q8TDN1	KCNG4_HUMAN	R	397	ENSP00000312129:G397R	ENSP00000312129:G397R	G	-	1	0	KCNG4	82813695	0.419000	0.25449	0.627000	0.29227	0.211000	0.24417	2.639000	0.46570	2.631000	0.89168	0.655000	0.94253	GGG		PASS	0.642	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		5	32	5	32	---	---	---	---
TM4SF5	9032	broad.mit.edu	37	17	4675353	4675353	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:4675353C>G	ENST00000270560.3	+	1	167	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	46						integral component of plasma membrane (GO:0005887)		p.Q46E(1)		large_intestine(2)|lung(3)|ovary(1)	6						TCTCAGCTTGCAAGTCTGGCT	0.622																																						uc002fyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(136-138)CAA>GAA		transmembrane 4 superfamily member 5							119.0	106.0	111.0					17																	4675353		2203	4300	6503	SO:0001583	missense	9032					integral to plasma membrane		g.chr17:4675353C>G	AF027204	CCDS11054.1	17p13.3	2007-01-06	2005-03-21		ENSG00000142484	ENSG00000142484			11857	protein-coding gene	gene with protein product		604657	"""transmembrane 4 superfamily member 5"""			9479038	Standard	NM_003963		Approved		uc002fyw.1	O14894	OTTHUMG00000090776	ENST00000270560.3:c.136C>G	17.37:g.4675353C>G	ENSP00000270560:p.Gln46Glu						p.Q46E	NM_003963	NP_003954	O14894	T4S5_HUMAN			1	167	+			46			Extracellular (Potential).		Q17RW9|Q6IB79	Missense_Mutation	SNP	ENST00000270560.3	37	c.136C>G	CCDS11054.1	.	.	.	.	.	.	.	.	.	.	C	9.032	0.987587	0.18966	.	.	ENSG00000142484	ENST00000270560	T	0.28454	1.61	5.54	5.54	0.83059	.	0.235813	0.44285	D	0.000480	T	0.24851	0.0603	N	0.25245	0.725	0.53688	D	0.999978	P	0.45634	0.863	B	0.42495	0.389	T	0.01874	-1.1256	10	0.23302	T	0.38	-0.3095	16.9865	0.86341	0.0:1.0:0.0:0.0	.	46	O14894	T4S5_HUMAN	E	46	ENSP00000270560:Q46E	ENSP00000270560:Q46E	Q	+	1	0	TM4SF5	4622102	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	2.840000	0.48215	2.598000	0.87819	0.655000	0.94253	CAA		PASS	0.622	TM4SF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207558.2			19	23	19	23	---	---	---	---
GP1BA	2811	broad.mit.edu	37	17	4836260	4836260	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:4836260C>A	ENST00000329125.5	+	2	436	c.361C>A	c.(361-363)Ctg>Atg	p.L121M		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	121					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.L121M(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TCTCACCGTCCTGGACGTCTC	0.602																																						uc010vsq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CTG>ATG		platelet glycoprotein Ib alpha polypeptide							85.0	87.0	87.0					17																	4836260		2156	4255	6411	SO:0001583	missense	2811							g.chr17:4836260C>A		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.361C>A	17.37:g.4836260C>A	ENSP00000329380:p.Leu121Met					uc002fzn.1_RNA	p.L121M	NM_000173	NP_000164	P07359	GP1BA_HUMAN			2	436	+			121					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	ENST00000329125.5	37	c.361C>A	CCDS54068.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076982	0.36662	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	T	0.80393	-1.37	4.66	2.66	0.31614	.	0.000000	0.30134	N	0.010329	D	0.90580	0.7047	M	0.93939	3.475	0.32646	N	0.520071	D	0.89917	1.0	D	0.97110	1.0	D	0.90808	0.4699	10	0.87932	D	0	-8.4905	8.6762	0.34181	0.0:0.8095:0.0:0.1905	.	121	A5CKE2	.	M	121	ENSP00000329380:L121M	ENSP00000329380:L121M	L	+	1	2	GP1BA	4777040	0.998000	0.40836	0.379000	0.26080	0.121000	0.20230	4.375000	0.59549	0.389000	0.25086	0.305000	0.20034	CTG		PASS	0.602	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			21	20	21	20	---	---	---	---
CHRNB1	1140	broad.mit.edu	37	17	7359243	7359243	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:7359243C>A	ENST00000306071.2	+	10	1415	c.1348C>A	c.(1348-1350)Cag>Aag	p.Q450K	CHRNB1_ENST00000576360.1_Missense_Mutation_p.Q329K|CHRNB1_ENST00000536404.2_Missense_Mutation_p.Q378K|CHRNB1_ENST00000575379.1_5'UTR	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	450			Missing (in CMS-ACHRD; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits). {ECO:0000269|PubMed:10562302}.		behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)	p.Q450K(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	GCTGCAGGAACAGGAGGACCA	0.612																																						uc002ghb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1348-1350)CAG>AAG		nicotinic acetylcholine receptor beta 1 subunit							64.0	56.0	58.0					17																	7359243		2203	4300	6503	SO:0001583	missense	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7359243C>A	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1348C>A	17.37:g.7359243C>A	ENSP00000304290:p.Gln450Lys					CHRNB1_uc010vty.1_Missense_Mutation_p.Q378K	p.Q450K	NM_000747	NP_000738	P11230	ACHB_HUMAN			10	1389	+		Prostate(122;0.157)	450		Missing (in CMS-ACHRD; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits).	Cytoplasmic (Potential).		B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	37	c.1348C>A	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103381	0.37145	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.20881	2.04;2.04	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.201237	0.43919	D	0.000507	T	0.22859	0.0552	L	0.48218	1.51	0.80722	D	1	B	0.33448	0.412	B	0.33799	0.17	T	0.01725	-1.1287	10	0.39692	T	0.17	.	16.9017	0.86115	0.0:1.0:0.0:0.0	.	450	P11230	ACHB_HUMAN	K	450;378	ENSP00000304290:Q450K;ENSP00000439209:Q378K	ENSP00000304290:Q450K	Q	+	1	0	CHRNB1	7299967	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	2.478000	0.45189	2.584000	0.87258	0.543000	0.68304	CAG		PASS	0.612	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			3	22	3	22	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576853	7576853	+	Splice_Site	SNP	C	C	G	rs11575996		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:7576853C>G	ENST00000269305.4	-	9	1182	c.993G>C	c.(991-993)caG>caC	p.Q331H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.Q331H|TP53_ENST00000420246.2_Splice_Site_p.Q331H|TP53_ENST00000359597.4_Splice_Site_p.Q331H|TP53_ENST00000445888.2_Splice_Site_p.Q331H|TP53_ENST00000413465.2_Intron	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	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(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)	GACTTAGTACCTGAAGGGTGA	0.453		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		21	Substitution - Missense(9)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)|Substitution - coding silent(1)	p.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(1)	bone(4)|large_intestine(3)|lung(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|urinary_tract(1)|liver(1)|skin(1)|breast(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						c.(991-993)CAG>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							115.0	108.0	110.0					17																	7576853		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7576853C>G	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.993+1G>C	17.37:g.7576853C>G		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_Intron|TP53_uc002gih.2_Missense_Mutation_p.Q331H|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Missense_Mutation_p.Q199H|TP53_uc010cng.1_Missense_Mutation_p.Q199H|TP53_uc002gii.1_Missense_Mutation_p.Q199H|TP53_uc010cnh.1_Missense_Mutation_p.Q331H|TP53_uc010cni.1_Missense_Mutation_p.Q331H|TP53_uc002gij.2_Missense_Mutation_p.Q331H	p.Q331H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1187	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	331		Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		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.993G>C	CCDS11118.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.95|14.95	2.686997|2.686997	0.48097|0.48097	.|.	.|.	ENSG00000141510|ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690|ENST00000419024	D;D;D;D;D;D|.	0.99771|.	-5.93;-3.18;-5.92;-5.91;-3.18;-6.71|.	4.95|4.95	4.95|4.95	0.65309|0.65309	p53, tetramerisation domain (3);|.	0.253251|.	0.40469|.	N|.	0.001098|.	T|T	0.59662|0.59662	0.2210|0.2210	L|L	0.45352|0.45352	1.415|1.415	0.41463|0.41463	D|D	0.988058|0.988058	B;B;B;B|.	0.24963|.	0.112;0.013;0.026;0.115|.	B;B;B;B|.	0.32762|.	0.152;0.012;0.052;0.072|.	T|T	0.56414|0.56414	-0.7983|-0.7983	9|5	.|.	.|.	.|.	-17.7352|-17.7352	13.5611|13.5611	0.61790|0.61790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331;331;331;331|.	P04637-2;P04637-3;P04637;Q1MSW8|.	.;.;P53_HUMAN;.|.	H|T	331;331;331;331;331;320;199|18	ENSP00000352610:Q331H;ENSP00000269305:Q331H;ENSP00000398846:Q331H;ENSP00000391127:Q331H;ENSP00000391478:Q331H;ENSP00000425104:Q199H|.	.|.	Q|S	-|-	3|2	2|0	TP53|TP53	7517578|7517578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.665000|0.665000	0.39181|0.39181	3.347000|3.347000	0.52200|0.52200	2.578000|2.578000	0.87016|0.87016	0.561000|0.561000	0.74099|0.74099	CAG|AGC		PASS	0.453	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	31	3	31	3	---	---	---	---
DHRS7C	201140	broad.mit.edu	37	17	9674965	9674965	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:9674965T>A	ENST00000330255.5	-	6	791	c.779A>T	c.(778-780)gAg>gTg	p.E260V	DHRS7C_ENST00000571134.1_Missense_Mutation_p.E259V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	260					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)	p.E260V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CATCACCTCCTCCGCCACCTC	0.627																																						uc010vvb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GAG>GTG		dehydrogenase/reductase (SDR family) member 7C							39.0	43.0	42.0					17																	9674965		2051	4190	6241	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9674965T>A		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.779A>T	17.37:g.9674965T>A	ENSP00000327975:p.Glu260Val					DHRS7C_uc010cof.2_Missense_Mutation_p.E259V	p.E260V	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN			6	779	-			260					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.779A>T	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.364120	0.41902	.	.	ENSG00000184544	ENST00000330255	T	0.54279	0.58	5.5	5.5	0.81552	NAD(P)-binding domain (1);	0.149112	0.64402	D	0.000011	T	0.43411	0.1246	L	0.47716	1.5	0.43902	D	0.996532	P;P	0.40000	0.514;0.698	B;B	0.29716	0.106;0.07	T	0.49890	-0.8891	10	0.56958	D	0.05	.	14.7364	0.69419	0.0:0.0:0.0:1.0	.	260;256	A6NNS2;B9EJH3	DRS7C_HUMAN;.	V	260	ENSP00000327975:E260V	ENSP00000327975:E260V	E	-	2	0	DHRS7C	9615690	0.997000	0.39634	0.997000	0.53966	0.951000	0.60555	3.561000	0.53770	2.302000	0.77476	0.533000	0.62120	GAG		PASS	0.627	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		13	0	13	0	---	---	---	---
LIG3	3980	broad.mit.edu	37	17	33326404	33326404	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:33326404G>A	ENST00000378526.4	+	15	2325	c.2192G>A	c.(2191-2193)gGa>gAa	p.G731E	LIG3_ENST00000262327.5_Missense_Mutation_p.G731E	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	731					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.G644E(1)|p.G731E(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AAGTGTGCAGGAGGCCATGAT	0.577								Other BER factors																														uc002hik.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9						c.(2191-2193)GGA>GAA	Other_BER_factors	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)						76.0	54.0	62.0					17																	33326404		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33326404G>A		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2192G>A	17.37:g.33326404G>A	ENSP00000367787:p.Gly731Glu					LIG3_uc002hij.2_Missense_Mutation_p.G731E	p.G731E	NM_013975	NP_039269	P49916	DNLI3_HUMAN			15	2300	+		Ovarian(249;0.17)	731					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.2192G>A	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	G	35	5.571297	0.96553	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.63096	-0.02;-0.02	6.17	6.17	0.99709	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.093786	0.85682	D	0.000000	T	0.79969	0.4538	M	0.77616	2.38	0.80722	D	1	D;D	0.63880	0.993;0.985	D;P	0.64410	0.925;0.9	T	0.79072	-0.1953	10	0.54805	T	0.06	-11.943	19.8676	0.96824	0.0:0.0:1.0:0.0	.	731;731	P49916;E5KLB6	DNLI3_HUMAN;.	E	731	ENSP00000367787:G731E;ENSP00000262327:G731E	ENSP00000262327:G731E	G	+	2	0	LIG3	30350517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.631000	0.98424	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.577	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		9	31	9	31	---	---	---	---
PIGW	284098	broad.mit.edu	37	17	34893620	34893620	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:34893620G>T	ENST00000592983.1	+	2	1250	c.670G>T	c.(670-672)Ggc>Tgc	p.G224C	MYO19_ENST00000431794.3_5'Flank|MYO19_ENST00000544606.1_5'Flank|MYO19_ENST00000268852.9_5'Flank|MYO19_ENST00000586007.1_5'Flank|PIGW_ENST00000328396.2_Missense_Mutation_p.G224C|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	224					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)	p.G224C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAATCAATAGGCTATCAGGA	0.353																																						uc002hmy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)GGC>TGC		phosphatidylinositol glycan, class W							81.0	85.0	84.0					17																	34893620		2203	4300	6503	SO:0001583	missense	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893620G>T	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.670G>T	17.37:g.34893620G>T	ENSP00000468778:p.Gly224Cys					MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.G224C	p.G224C	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	713	+		Breast(25;0.00957)|Ovarian(249;0.17)	224					Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	c.670G>T	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425113	0.62733	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.79	4.82	0.62117	.	0.667620	0.15565	N	0.255721	T	0.76835	0.4043	M	0.81497	2.545	0.41006	D	0.984962	D	0.69078	0.997	P	0.57371	0.819	T	0.79184	-0.1908	8	.	.	.	1.9809	15.4342	0.75133	0.0:0.0:0.8602:0.1398	.	224	Q7Z7B1	PIGW_HUMAN	C	224	.	.	G	+	1	0	PIGW	31967733	1.000000	0.71417	0.824000	0.32777	0.882000	0.50991	6.170000	0.71920	1.439000	0.47511	0.561000	0.74099	GGC		PASS	0.353	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		12	37	12	37	---	---	---	---
RAPGEFL1	51195	broad.mit.edu	37	17	38340578	38340578	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:38340578G>A	ENST00000456989.2	+	3	305	c.259G>A	c.(259-261)Gag>Aag	p.E87K	RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.E81K|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.E32K|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.E32K			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	238	Gly-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E32K(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TCAAGAGGAAGAGGGGGCCGG	0.597																																					Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(94-96)GAG>AAG		Rap guanine nucleotide exchange factor							61.0	72.0	68.0					17																	38340578		2203	4300	6503	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38340578G>A	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.259G>A	17.37:g.38340578G>A	ENSP00000394530:p.Glu87Lys						p.E32K	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN			3	584	+			238						Missense_Mutation	SNP	ENST00000456989.2	37	c.94G>A		.	.	.	.	.	.	.	.	.	.	G	25.5	4.645298	0.87859	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615;ENST00000538981	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.57	5.57	0.84162	Ras guanine nucleotide exchange factor, domain (1);	0.196194	0.33419	N	0.004938	T	0.45875	0.1364	N	0.24115	0.695	0.45366	D	0.998357	D	0.61080	0.989	P	0.55391	0.775	T	0.45026	-0.9289	10	0.59425	D	0.04	.	17.0471	0.86507	0.0:0.0:1.0:0.0	.	238	Q9UHV5	RPGFL_HUMAN	K	87;32;81;32;237;32;32	ENSP00000394530:E87K;ENSP00000440226:E32K;ENSP00000438631:E81K;ENSP00000408322:E32K;ENSP00000441059:E32K	ENSP00000264644:E237K	E	+	1	0	RAPGEFL1	35594104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.171000	0.64996	2.605000	0.88082	0.655000	0.94253	GAG		PASS	0.597	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		22	45	22	45	---	---	---	---
TOP2A	7153	broad.mit.edu	37	17	38573130	38573130	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:38573130C>T	ENST00000423485.1	-	2	197	c.39G>A	c.(37-39)atG>atA	p.M13I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	13					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.M13I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGTTGACTTGCATATTTTCAT	0.308																																						uc002huq.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(37-39)ATG>ATA		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						150.0	120.0	129.0					17																	38573130		1797	4071	5868	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38573130C>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.39G>A	17.37:g.38573130C>T	ENSP00000411532:p.Met13Ile						p.M13I	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		2	165	-		Breast(137;0.00328)	13					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.39G>A	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362817	0.24684	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.21191	2.02	4.87	2.73	0.32206	.	0.663331	0.16305	N	0.220285	T	0.08492	0.0211	N	0.04508	-0.205	0.09310	N	1	B	0.17038	0.02	B	0.15484	0.013	T	0.18650	-1.0330	10	0.32370	T	0.25	.	6.4236	0.21758	0.0:0.5729:0.2635:0.1636	.	13	P11388	TOP2A_HUMAN	I	13;12;12;13	ENSP00000411532:M13I	ENSP00000269577:M12I	M	-	3	0	TOP2A	35826656	0.001000	0.12720	1.000000	0.80357	0.943000	0.58893	0.509000	0.22707	2.416000	0.81992	0.655000	0.94253	ATG		PASS	0.308	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			36	19	36	19	---	---	---	---
ATP6V0A1	535	broad.mit.edu	37	17	40635067	40635067	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:40635067C>T	ENST00000343619.4	+	9	851	c.728C>T	c.(727-729)tCa>tTa	p.S243L	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S243L|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S200L|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S243L|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S250L|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S200L	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	243					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.S243L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCCGAGCCTCACTCTATCCC	0.418																																						uc002hzr.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(727-729)TCA>TTA		ATPase, H+ transporting, lysosomal V0 subunit a1							82.0	80.0	81.0					17																	40635067		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40635067C>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.728C>T	17.37:g.40635067C>T	ENSP00000342951:p.Ser243Leu					ATP6V0A1_uc002hzq.2_Missense_Mutation_p.S243L|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.S250L|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.S200L|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.S200L|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.S102L	p.S243L	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	9	895	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	243			Cytoplasmic (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.728C>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246482	0.95305	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.77	5.77	0.91146	.	0.057101	0.64402	D	0.000001	D	0.91199	0.7227	M	0.81682	2.555	0.80722	D	1	P;B;B;P;P	0.42556	0.494;0.27;0.27;0.783;0.748	P;B;B;P;P	0.52109	0.595;0.41;0.315;0.582;0.69	D	0.90653	0.4584	10	0.51188	T	0.08	-12.0462	19.9785	0.97317	0.0:1.0:0.0:0.0	.	200;200;250;243;243	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	L	243;243;243;250;200	ENSP00000342951:S243L;ENSP00000444676:S243L;ENSP00000377415:S243L;ENSP00000264649:S250L;ENSP00000443991:S200L	ENSP00000264649:S250L	S	+	2	0	ATP6V0A1	37888593	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.818000	0.86416	2.720000	0.93068	0.563000	0.77884	TCA		PASS	0.418	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		9	28	9	28	---	---	---	---
ATP6V0A1	535	broad.mit.edu	37	17	40673107	40673107	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:40673107A>G	ENST00000343619.4	+	22	2606	c.2483A>G	c.(2482-2484)gAg>gGg	p.E828G	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.E828G|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.E474G|ATP6V0A1_ENST00000587797.1_3'UTR|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.E779G|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.E822G|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.E829G|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.E785G	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	828					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.E822G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCTCCTTCGAGCATATTCGG	0.512																																						uc002hzr.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2482-2484)GAG>GGG		ATPase, H+ transporting, lysosomal V0 subunit a1							137.0	140.0	139.0					17																	40673107		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40673107A>G	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2483A>G	17.37:g.40673107A>G	ENSP00000342951:p.Glu828Gly					ATP6V0A1_uc002hzq.2_Missense_Mutation_p.E822G|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.E829G|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.E785G|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.E779G|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.E474G|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.E687G|ATP6V0A1_uc002hzt.2_Missense_Mutation_p.E112G|ATP6V0A1_uc002hzu.2_Missense_Mutation_p.S113G	p.E828G	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	22	2650	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	828			Cytoplasmic (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.2483A>G	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.042634	0.75732	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.75264	2.295	0.80722	D	1	P;B;B;P;B	0.44429	0.62;0.268;0.268;0.835;0.101	B;B;B;B;B	0.43754	0.426;0.261;0.201;0.43;0.06	D	0.89757	0.3944	10	0.62326	D	0.03	-22.4321	15.142	0.72618	1.0:0.0:0.0:0.0	.	779;785;829;828;822	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	G	828;828;822;829;779;474	ENSP00000342951:E828G;ENSP00000444676:E828G;ENSP00000377415:E822G;ENSP00000264649:E829G;ENSP00000443991:E779G;ENSP00000446377:E474G	ENSP00000264649:E829G	E	+	2	0	ATP6V0A1	37926633	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.066000	0.76734	2.244000	0.73946	0.528000	0.53228	GAG		PASS	0.512	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		66	48	66	48	---	---	---	---
PSME3	10197	broad.mit.edu	37	17	40990190	40990190	+	Missense_Mutation	SNP	G	G	A	rs371137053		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:40990190G>A	ENST00000590720.1	+	6	606	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000545225.1_Missense_Mutation_p.E64K|PSME3_ENST00000293362.3_Missense_Mutation_p.E125K|PSME3_ENST00000592169.1_Missense_Mutation_p.E69K|PSME3_ENST00000441946.2_Missense_Mutation_p.E136K			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)	p.E125K(1)		NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGTGAAACCTGAGATCCGGCT	0.512																																						uc002ibr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)GAG>AAG		proteasome activator subunit 3 isoform 1		G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	114.0	112.0	112.0		373,373	4.7	1.0	17		112	0,8600		0,0,4300	no	missense,missense	PSME3	NM_005789.2,NM_176863.1	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	125/255,125/268	40990190	1,13005	2203	4300	6503	SO:0001583	missense	10197				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding	g.chr17:40990190G>A	U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"""Proteasome (prosome, macropain) subunits"""	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.373G>A	17.37:g.40990190G>A	ENSP00000466794:p.Glu125Lys					PSME3_uc002ibp.2_Missense_Mutation_p.E64K|PSME3_uc002ibq.2_Missense_Mutation_p.E125K|PSME3_uc002ibs.2_Missense_Mutation_p.E136K|PSME3_uc010whd.1_Intron	p.E125K	NM_005789	NP_005780	P61289	PSME3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	6	599	+		Breast(137;0.000143)	125					A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	ENST00000590720.1	37	c.373G>A	CCDS45689.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364729	0.61513	2.27E-4	0.0	ENSG00000131467	ENST00000545225;ENST00000293362;ENST00000441946	T;T	0.46819	0.86;0.86	5.64	4.68	0.58851	Proteasome activator pa28, REG beta subunit (2);	0.046538	0.85682	N	0.000000	T	0.62146	0.2404	L	0.53729	1.69	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.526	D;D;B	0.87578	0.998;0.998;0.393	T	0.58923	-0.7550	10	0.26408	T	0.33	-19.9474	14.6683	0.68924	0.0689:0.0:0.9311:0.0	.	125;125;125	Q6FHK7;P61289;P61289-2	.;PSME3_HUMAN;.	K	64;125;125	ENSP00000441682:E64K;ENSP00000293362:E125K	ENSP00000293362:E125K	E	+	1	0	PSME3	38243716	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	1.631000	0.50456	0.650000	0.86243	GAG		PASS	0.512	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452430.1	NM_176863		17	41	17	41	---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41108544	41108544	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:41108544C>T	ENST00000427569.2	-	5	458	c.423G>A	c.(421-423)ctG>ctA	p.L141L	PTGES3L-AARSD1_ENST00000409399.1_Silent_p.L315L|PTGES3L-AARSD1_ENST00000360221.4_Silent_p.L254L|PTGES3L-AARSD1_ENST00000409103.1_Silent_p.L224L|PTGES3L-AARSD1_ENST00000421990.2_Silent_p.L315L|AARSD1_ENST00000416949.1_Intron	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	141					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)	p.L254L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AGGGGGTGTCCAGCTCAATCG	0.478																																						uc002icc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(421-423)CTG>CTA		alanyl-tRNA synthetase domain containing 1							83.0	78.0	80.0					17																	41108544		2203	4300	6503	SO:0001819	synonymous_variant	80755				alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding	g.chr17:41108544C>T	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.423G>A	17.37:g.41108544C>T						AARSD1_uc002icd.2_Silent_p.L254L|AARSD1_uc002ice.2_Silent_p.L224L|AARSD1_uc002icf.2_Silent_p.L315L|AARSD1_uc010whg.1_Silent_p.L315L|AARSD1_uc010cyu.1_Silent_p.L141L	p.L141L	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	426	-		Breast(137;0.00499)	141					B4DI73	Silent	SNP	ENST00000427569.2	37	c.423G>A	CCDS58552.1	.	.	.	.	.	.	.	.	.	.	C	9.023	0.985259	0.18889	.	.	ENSG00000108825	ENST00000441280;ENST00000430739	.	.	.	5.51	1.2	0.21068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7585	6.6574	0.22994	0.1323:0.6628:0.0:0.2049	.	.	.	.	X	147	.	.	W	-	2	0	AARSD1	38362070	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.928000	0.40104	0.250000	0.21479	-0.300000	0.09419	TGG		PASS	0.478	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		9	32	9	32	---	---	---	---
PRAC1	84366	broad.mit.edu	37	17	46799684	46799684	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:46799684T>C	ENST00000290294.3	-	1	200	c.71A>G	c.(70-72)aAt>aGt	p.N24S	PRAC2_ENST00000422730.2_RNA|MIR3185_ENST00000583892.1_RNA|PRAC2_ENST00000432056.1_RNA	NM_032391.2	NP_115767.1	Q96KF2	PRAC1_HUMAN	prostate cancer susceptibility candidate 1	24						nucleus (GO:0005634)		p.N24S(1)									GTTTACCTTATTAGAGAGAAA	0.542																																						uc002iny.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)AAT>AGT		prostate cancer susceptibility candidate							94.0	85.0	88.0					17																	46799684		2203	4300	6503	SO:0001583	missense	84366					nucleus		g.chr17:46799684T>C	AF331165	CCDS11535.1	17q21	2013-08-29	2013-08-29	2013-08-29	ENSG00000159182	ENSG00000159182			30591	protein-coding gene	gene with protein product	"""prostate, rectum and colon"""	609819	"""chromosome 17 open reading frame 92"", ""prostate cancer susceptibility candidate"""	C17orf92, PRAC		11340635	Standard	NM_032391		Approved		uc002iny.3	Q96KF2	OTTHUMG00000159899	ENST00000290294.3:c.71A>G	17.37:g.46799684T>C	ENSP00000290294:p.Asn24Ser					C17orf93_uc002inz.1_5'Flank	p.N24S	NM_032391	NP_115767	Q96KF2	PRAC_HUMAN			1	199	-			24						Missense_Mutation	SNP	ENST00000290294.3	37	c.71A>G	CCDS11535.1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.572404	0.28092	.	.	ENSG00000159182	ENST00000290294	T	0.57595	0.39	3.71	1.38	0.22167	.	.	.	.	.	T	0.37100	0.0991	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.33497	-0.9866	8	0.87932	D	0	.	3.9244	0.09257	0.0:0.1153:0.215:0.6697	.	24	Q96KF2	PRAC_HUMAN	S	24	ENSP00000290294:N24S	ENSP00000290294:N24S	N	-	2	0	PRAC	44154683	0.000000	0.05858	0.001000	0.08648	0.366000	0.29705	-0.106000	0.10890	0.252000	0.21531	-0.263000	0.10527	AAT		PASS	0.542	PRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358086.1	NM_032391		21	40	21	40	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56661932	56661932	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:56661932C>T	ENST00000240361.8	-	19	3203	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K	TEX14_ENST00000389934.3_Missense_Mutation_p.E1034K|TEX14_ENST00000349033.5_Missense_Mutation_p.E1034K			Q8IWB6	TEX14_HUMAN	testis expressed 14	1040					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.E1034K(1)|p.E1040K(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTGGTTGCTCCTTTTGTCTG	0.433																																						uc010dcz.1																			2	Substitution - Missense(2)		lung(2)	stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(3118-3120)GAG>AAG		testis expressed sequence 14 isoform a							205.0	171.0	183.0					17																	56661932		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56661932C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3118G>A	17.37:g.56661932C>T	ENSP00000240361:p.Glu1040Lys					TEX14_uc002iwr.1_Missense_Mutation_p.E1034K|TEX14_uc002iws.1_Missense_Mutation_p.E1034K|TEX14_uc010dda.1_Missense_Mutation_p.E814K	p.E1040K	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			19	3236	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1040					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.3118G>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	5.822	0.335966	0.11013	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80824	-1.42;-1.42;-1.41	4.62	-0.997	0.10215	.	0.491185	0.20149	N	0.098212	T	0.68403	0.2997	L	0.50333	1.59	0.09310	N	1	B;P;B	0.36909	0.002;0.573;0.004	B;B;B	0.31946	0.006;0.138;0.013	T	0.58618	-0.7605	10	0.41790	T	0.15	-0.4761	8.1408	0.31082	0.0:0.5114:0.0:0.4886	.	1040;1034;1034	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	K	1040;1034;1034	ENSP00000240361:E1040K;ENSP00000374584:E1034K;ENSP00000268910:E1034K	ENSP00000240361:E1040K	E	-	1	0	TEX14	54016931	0.002000	0.14202	0.000000	0.03702	0.027000	0.11550	-0.017000	0.12590	-0.075000	0.12798	0.455000	0.32223	GAG		PASS	0.433	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			16	34	16	34	---	---	---	---
KCNJ2	3759	broad.mit.edu	37	17	68171453	68171453	+	Silent	SNP	T	T	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:68171453T>G	ENST00000243457.3	+	2	656	c.273T>G	c.(271-273)gcT>gcG	p.A91A	KCNJ2_ENST00000535240.1_Silent_p.A91A	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	91					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.A91A(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TCTGCCTGGCTTTCGTCCTGT	0.532																																						uc010dfg.2																			2	Substitution - coding silent(2)		lung(1)|kidney(1)		0						c.(271-273)GCT>GCG		potassium inwardly-rectifying channel J2							207.0	166.0	180.0					17																	68171453		2203	4300	6503	SO:0001819	synonymous_variant	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171453T>G	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.273T>G	17.37:g.68171453T>G						KCNJ2_uc002jir.2_Silent_p.A91A	p.A91A	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	674	+	Breast(10;1.64e-08)		91			Helical; Name=M1; (By similarity).		O15110|P48049	Silent	SNP	ENST00000243457.3	37	c.273T>G	CCDS11688.1																																																																																				PASS	0.532	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		15	58	15	58	---	---	---	---
KCNJ2	3759	broad.mit.edu	37	17	68171795	68171795	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:68171795C>G	ENST00000243457.3	+	2	998	c.615C>G	c.(613-615)gaC>gaG	p.D205E	KCNJ2_ENST00000535240.1_Missense_Mutation_p.D205E	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	205					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.D205E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CCATGAGAGACGGCAAGCTGT	0.488																																						uc010dfg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(613-615)GAC>GAG		potassium inwardly-rectifying channel J2							128.0	106.0	114.0					17																	68171795		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171795C>G	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.615C>G	17.37:g.68171795C>G	ENSP00000243457:p.Asp205Glu					KCNJ2_uc002jir.2_Missense_Mutation_p.D205E	p.D205E	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	1016	+	Breast(10;1.64e-08)		205			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.615C>G	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516759	0.27123	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.92699	-3.09;-3.09	5.76	-7.43	0.01383	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	M	0.85859	2.78	0.45295	D	0.99829	D	0.71674	0.998	D	0.91635	0.999	D	0.93716	0.7028	9	.	.	.	.	20.7795	0.99721	0.0:0.6577:0.0:0.3423	.	205	P63252	IRK2_HUMAN	E	205	ENSP00000441848:D205E;ENSP00000243457:D205E	.	D	+	3	2	KCNJ2	65683390	0.000000	0.05858	0.589000	0.28718	0.124000	0.20399	-1.890000	0.01613	-1.671000	0.01466	-1.708000	0.00717	GAC		PASS	0.488	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		21	61	21	61	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73487781	73487781	+	Silent	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:73487781C>A	ENST00000314256.7	+	14	1790	c.1396C>A	c.(1396-1398)Cga>Aga	p.R466R	KIAA0195_ENST00000579208.1_Silent_p.R117R|KIAA0195_ENST00000375248.5_Silent_p.R476R	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	466						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R466R(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCCATGAACGAGACGCCCT	0.642																																						uc002jnz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1396-1398)CGA>AGA		hypothetical protein LOC9772							79.0	80.0	79.0					17																	73487781		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73487781C>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1396C>A	17.37:g.73487781C>A						KIAA0195_uc010wsa.1_Silent_p.R476R|KIAA0195_uc010wsb.1_Silent_p.R122R	p.R466R	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		14	1671	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		466					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.1396C>A	CCDS32732.1																																																																																				PASS	0.642	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		18	77	18	77	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80039490	80039490	+	Silent	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:80039490C>A	ENST00000306749.2	-	37	6611	c.6393G>T	c.(6391-6393)gtG>gtT	p.V2131V	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2131	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V2131V(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGATGTGTGCCACGGCCTCCA	0.642																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(6391-6393)GTG>GTT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						43.0	40.0	41.0					17																	80039490		2202	4299	6501	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80039490C>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6393G>T	17.37:g.80039490C>A						FASN_uc002kdv.1_RNA	p.V2131V	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		37	6510	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2131			Acyl carrier.		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.6393G>T	CCDS11801.1																																																																																				PASS	0.642	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		4	35	4	35	---	---	---	---
TEX19	400629	broad.mit.edu	37	17	80320050	80320050	+	Silent	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:80320050G>A	ENST00000333437.4	+	2	334	c.24G>A	c.(22-24)cgG>cgA	p.R8R		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	8					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)		p.R8R(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						TCAGCATGCGGTATGAGGAAG	0.582																																						uc002keq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)CGG>CGA		testis expressed 19							151.0	128.0	136.0					17																	80320050		2203	4300	6503	SO:0001819	synonymous_variant	400629					nucleus		g.chr17:80320050G>A	BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.24G>A	17.37:g.80320050G>A							p.R8R	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN			2	333	+			8						Silent	SNP	ENST00000333437.4	37	c.24G>A	CCDS11809.1																																																																																				PASS	0.582	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256331.1	NM_207459		79	37	79	37	---	---	---	---
THOC1	9984	broad.mit.edu	37	18	215489	215489	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr18:215489T>C	ENST00000261600.6	-	20	1625	c.1618A>G	c.(1618-1620)Ata>Gta	p.I540V		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	540					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.I540V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCTGTTTTTATTTCTTCAGAA	0.343																																						uc002kkj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1618-1620)ATA>GTA		THO complex 1							115.0	103.0	107.0					18																	215489		1842	4091	5933	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:215489T>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1618A>G	18.37:g.215489T>C	ENSP00000261600:p.Ile540Val					THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Missense_Mutation_p.I164V	p.I540V	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN			20	1658	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	540					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.1618A>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	T	6.538	0.467440	0.12402	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	L	0.35414	1.06	0.80722	D	1	P	0.43788	0.817	P	0.45998	0.5	T	0.49952	-0.8884	9	0.28530	T	0.3	-22.969	15.498	0.75673	0.0:0.0:0.0:1.0	.	540	Q96FV9	THOC1_HUMAN	V	540	.	ENSP00000261600:I540V	I	-	1	0	THOC1	205489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.690000	0.74567	2.070000	0.61991	0.460000	0.39030	ATA		PASS	0.343	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		22	6	22	6	---	---	---	---
SMCHD1	23347	broad.mit.edu	37	18	2688397	2688397	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr18:2688397A>T	ENST00000320876.6	+	6	982	c.644A>T	c.(643-645)cAt>cTt	p.H215L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.H215L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	215					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.H215L(3)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTTAGTGATCATTCAGGATAT	0.348																																						uc002klm.3																			3	Substitution - Missense(3)		lung(3)		0						c.(643-645)CAT>CTT		structural maintenance of chromosomes flexible							92.0	90.0	90.0					18																	2688397		1908	4121	6029	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2688397A>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.644A>T	18.37:g.2688397A>T	ENSP00000326603:p.His215Leu						p.H215L	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			6	833	+			215					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.644A>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216960	0.39201	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.22743	1.94;1.94	5.08	5.08	0.68730	ATPase-like, ATP-binding domain (2);	0.256813	0.38436	N	0.001682	T	0.17450	0.0419	N	0.08118	0	0.40021	D	0.975403	P	0.44521	0.837	P	0.47603	0.551	T	0.14090	-1.0485	10	0.59425	D	0.04	.	15.1383	0.72586	1.0:0.0:0.0:0.0	.	215	A6NHR9	SMHD1_HUMAN	L	215	ENSP00000326603:H215L;ENSP00000261598:H215L	ENSP00000261598:H215L	H	+	2	0	SMCHD1	2678397	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.125000	0.64715	2.024000	0.59613	0.533000	0.62120	CAT		PASS	0.348	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			28	25	28	25	---	---	---	---
SMCHD1	23347	broad.mit.edu	37	18	2747616	2747616	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr18:2747616A>G	ENST00000320876.6	+	30	4236	c.3898A>G	c.(3898-3900)Ata>Gta	p.I1300V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.I1300V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1300					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.I1300V(2)|p.I748V(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACATGTTAAAATAAGTCTTAC	0.323																																						uc002klm.3																			3	Substitution - Missense(3)		lung(3)		0						c.(3898-3900)ATA>GTA		structural maintenance of chromosomes flexible							59.0	55.0	56.0					18																	2747616		1803	4062	5865	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2747616A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3898A>G	18.37:g.2747616A>G	ENSP00000326603:p.Ile1300Val					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.I1300V	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			30	4087	+			1300					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.3898A>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.382798	0.25031	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.21191	2.02;2.03	5.63	5.63	0.86233	.	0.045887	0.85682	D	0.000000	T	0.34395	0.0896	L	0.41356	1.27	0.34978	D	0.753788	P	0.43314	0.803	P	0.58873	0.847	T	0.34378	-0.9831	10	0.24483	T	0.36	-21.732	15.4924	0.75619	1.0:0.0:0.0:0.0	.	1300	A6NHR9	SMHD1_HUMAN	V	1300	ENSP00000326603:I1300V;ENSP00000261598:I1300V	ENSP00000261598:I1300V	I	+	1	0	SMCHD1	2737616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.464000	0.73534	2.133000	0.65898	0.528000	0.53228	ATA		PASS	0.323	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			3	16	3	16	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8783967	8783967	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr18:8783967A>C	ENST00000306329.11	+	5	1937	c.1937A>C	c.(1936-1938)gAg>gCg	p.E646A	SOGA2_ENST00000517570.1_Missense_Mutation_p.E286A|SOGA2_ENST00000359865.3_Missense_Mutation_p.E286A|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.E286A														p.E286A(1)									GAGGAAGCGGAGTTGCTCCGG	0.617																																						uc002knr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)GAG>GCG		hypothetical protein LOC23255							79.0	88.0	85.0					18																	8783967		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8783967A>C																												ENST00000306329.11:c.1937A>C	18.37:g.8783967A>C	ENSP00000305027:p.Glu646Ala					KIAA0802_uc002knq.2_Missense_Mutation_p.E286A|KIAA0802_uc010dkw.1_Missense_Mutation_p.E124A	p.E286A	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	999	+			637			Potential.			Missense_Mutation	SNP	ENST00000306329.11	37	c.857A>C		.	.	.	.	.	.	.	.	.	.	A	12.42	1.932660	0.34096	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.19938	2.11;2.15;2.11	5.81	4.62	0.57501	.	0.230097	0.31246	N	0.007994	T	0.40347	0.1113	M	0.83953	2.67	0.80722	D	1	P;D	0.57257	0.955;0.979	P;P	0.54544	0.755;0.641	T	0.32771	-0.9894	10	0.29301	T	0.29	-24.8659	12.9738	0.58527	0.8648:0.1352:0.0:0.0	.	307;286	A8MQ54;Q9Y4B5-3	.;.	A	307;286;286;286	ENSP00000429556:E286A;ENSP00000352927:E286A;ENSP00000382924:E286A	ENSP00000305027:E307A	E	+	2	0	CCDC165	8773967	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.455000	0.80726	0.998000	0.38996	0.528000	0.53228	GAG		PASS	0.617	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			56	40	56	40	---	---	---	---
GNAL	2774	broad.mit.edu	37	18	11864603	11864603	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr18:11864603C>G	ENST00000423027.3	+	7	939	c.618C>G	c.(616-618)ttC>ttG	p.F206L	GNAL_ENST00000269162.5_Missense_Mutation_p.F206L|GNAL_ENST00000334049.6_Missense_Mutation_p.F283L|GNAL_ENST00000535121.1_Missense_Mutation_p.F206L|GNAL_ENST00000602628.1_5'UTR			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	206					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.F283L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAGTAAACTTCCAGTGAGTAT	0.493																																						uc010dkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(616-618)TTC>TTG		guanine nucleotide binding protein (G protein),							146.0	139.0	141.0					18																	11864603		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11864603C>G	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.618C>G	18.37:g.11864603C>G	ENSP00000408489:p.Phe206Leu					GNAL_uc002kqc.2_Missense_Mutation_p.F283L|GNAL_uc002kqd.2_Missense_Mutation_p.F206L|GNAL_uc010wzt.1_5'UTR	p.F206L	NM_001142339	NP_001135811	P38405	GNAL_HUMAN			8	864	+			206					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.618C>G	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625390	0.66901	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	4.84	-7.21	0.01490	.	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	L	0.58925	1.835	0.80722	D	1	P;P	0.52061	0.549;0.95	B;P	0.56612	0.398;0.802	D	0.89427	0.3714	10	0.87932	D	0	.	15.7424	0.77910	0.0:0.605:0.0:0.395	.	206;283	P38405;Q86XU3	GNAL_HUMAN;.	L	145;283;206;206;206	ENSP00000334051:F283L;ENSP00000439023:F206L;ENSP00000269162:F206L;ENSP00000408489:F206L	ENSP00000269162:F206L	F	+	3	2	GNAL	11854603	0.982000	0.34865	0.842000	0.33263	0.735000	0.41995	0.135000	0.15952	-1.664000	0.01479	-1.149000	0.01842	TTC		PASS	0.493	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		35	87	35	87	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	56009014	56009014	+	Silent	SNP	A	A	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr18:56009014A>G	ENST00000400345.3	+	15	1645	c.1362A>G	c.(1360-1362)ttA>ttG	p.L454L	NEDD4L_ENST00000382850.4_Silent_p.L434L|NEDD4L_ENST00000586263.1_Silent_p.L426L|NEDD4L_ENST00000456986.1_Silent_p.L333L|NEDD4L_ENST00000456173.2_Silent_p.L313L|NEDD4L_ENST00000256832.7_Silent_p.L313L|NEDD4L_ENST00000356462.6_Silent_p.L390L|NEDD4L_ENST00000435432.2_Silent_p.L313L|NEDD4L_ENST00000357895.5_Silent_p.L446L|NEDD4L_ENST00000431212.2_Silent_p.L333L|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_Intron	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	454					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.L454L(1)|p.L434L(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CAGTAACTTTATCTGCCCCGC	0.527																																						uc002lgy.2																			2	Substitution - coding silent(2)		lung(2)	lung(4)	4						c.(1360-1362)TTA>TTG		neural precursor cell expressed, developmentally							59.0	64.0	62.0					18																	56009014		2050	4184	6234	SO:0001819	synonymous_variant	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:56009014A>G	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1362A>G	18.37:g.56009014A>G						NEDD4L_uc002lgz.2_Silent_p.L390L|NEDD4L_uc002lgx.2_Silent_p.L434L|NEDD4L_uc010xee.1_Silent_p.L333L|NEDD4L_uc002lhc.2_Silent_p.L446L|NEDD4L_uc002lhd.2_Silent_p.L333L|NEDD4L_uc002lhb.2_Silent_p.L313L|NEDD4L_uc002lhe.2_Silent_p.L426L|NEDD4L_uc002lhf.2_Silent_p.L313L|NEDD4L_uc002lhg.2_Silent_p.L333L|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron	p.L454L	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			15	1636	+			454					O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	ENST00000400345.3	37	c.1362A>G	CCDS45872.1																																																																																				PASS	0.527	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			14	13	14	13	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59217223	59217223	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr18:59217223G>A	ENST00000262717.4	+	11	2059	c.1661G>A	c.(1660-1662)cGg>cAg	p.R554Q	CDH20_ENST00000538374.1_Missense_Mutation_p.R554Q|CDH20_ENST00000536675.2_Missense_Mutation_p.R554Q			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	554	Cadherin 5. {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.R554Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AACACAGCACGGATTCTAACC	0.532																																						uc010dps.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1660-1662)CGG>CAG		cadherin 20, type 2 preproprotein							45.0	49.0	48.0					18																	59217223		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59217223G>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1661G>A	18.37:g.59217223G>A	ENSP00000262717:p.Arg554Gln					CDH20_uc002lif.2_Missense_Mutation_p.R548Q	p.R554Q	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			10	1673	+		Colorectal(73;0.186)	554			Cadherin 5.|Extracellular (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1661G>A	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767946	0.49680	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.19938	2.11;2.11;2.11	5.93	5.05	0.67936	Cadherin (4);Cadherin-like (1);	0.179758	0.51477	N	0.000087	T	0.12305	0.0299	N	0.12611	0.24	0.32389	N	0.553486	P	0.39480	0.675	B	0.40506	0.331	T	0.14924	-1.0455	10	0.19147	T	0.46	.	10.2167	0.43173	0.0683:0.0:0.7966:0.135	.	554	Q9HBT6	CAD20_HUMAN	Q	554	ENSP00000444767:R554Q;ENSP00000442226:R554Q;ENSP00000262717:R554Q	ENSP00000262717:R554Q	R	+	2	0	CDH20	57368203	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.273000	0.51623	1.504000	0.48704	0.655000	0.94253	CGG		PASS	0.532	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		10	28	10	28	---	---	---	---
TMPRSS9	360200	broad.mit.edu	37	19	2422218	2422218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:2422218G>T	ENST00000332578.3	+	13	2419	c.2419G>T	c.(2419-2421)Gag>Tag	p.E807*		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	807					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.E807*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACGCCCCGGAGGCCACCAC	0.632																																						uc010xgx.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2419-2421)GAG>TAG		transmembrane protease, serine 9							69.0	78.0	75.0					19																	2422218		2203	4299	6502	SO:0001587	stop_gained	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2422218G>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2419G>T	19.37:g.2422218G>T	ENSP00000330264:p.Glu807*						p.E807*	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2419	+			807			Extracellular (Potential).		Q6ZND6|Q7Z411	Nonsense_Mutation	SNP	ENST00000332578.3	37	c.2419G>T	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577848	0.86645	.	.	ENSG00000178297	ENST00000332578	.	.	.	3.5	-1.46	0.08800	.	1.204420	0.06035	N	0.653746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	7.9378	0.29939	0.3882:0.0:0.6118:0.0	.	.	.	.	X	807	.	ENSP00000330264:E807X	E	+	1	0	TMPRSS9	2373218	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.044000	0.13992	-0.316000	0.08690	0.491000	0.48974	GAG		PASS	0.632	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		21	71	21	71	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9058439	9058439	+	Silent	SNP	A	A	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:9058439A>C	ENST00000397910.4	-	3	29210	c.29007T>G	c.(29005-29007)tcT>tcG	p.S9669S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9671	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.S5302S(1)|p.S9669S(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						ATGTAGCCAGAGAATAACCTG	0.478																																						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.(29005-29007)TCT>TCG		mucin 16							164.0	146.0	152.0					19																	9058439		1977	4154	6131	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058439A>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.29007T>G	19.37:g.9058439A>C							p.S9669S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	29211	-			9671			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.29007T>G	CCDS54212.1																																																																																				PASS	0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		26	23	26	23	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10599944	10599944	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:10599944C>A	ENST00000171111.5	-	5	2179	c.1632G>T	c.(1630-1632)tgG>tgT	p.W544C	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.W544C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	544					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.W544C(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CTACGAAAGTCCACGTCTCTG	0.602																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1630-1632)TGG>TGT		kelch-like ECH-associated protein 1							80.0	61.0	68.0					19																	10599944		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10599944C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1632G>T	19.37:g.10599944C>A	ENSP00000171111:p.Trp544Cys					KEAP1_uc002mop.1_Intron|KEAP1_uc002mor.1_Missense_Mutation_p.W544C	p.W544C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		5	1788	-			544			Kelch 5.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1632G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819276	0.50633	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.96940	-4.18;-4.18	5.73	4.68	0.58851	Kelch-type beta propeller (1);	0.059099	0.64402	D	0.000001	D	0.98776	0.9588	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98696	1.0698	10	0.87932	D	0	.	13.0594	0.58997	0.0:0.9198:0.0:0.0802	.	544	Q14145	KEAP1_HUMAN	C	544	ENSP00000171111:W544C;ENSP00000377245:W544C	ENSP00000171111:W544C	W	-	3	0	KEAP1	10460944	1.000000	0.71417	0.588000	0.28705	0.138000	0.21146	5.706000	0.68362	2.726000	0.93360	0.585000	0.79938	TGG		PASS	0.602	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		33	4	33	4	---	---	---	---
OR7A17	26333	broad.mit.edu	37	19	14991871	14991871	+	Silent	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:14991871G>T	ENST00000327462.2	-	1	393	c.297C>A	c.(295-297)acC>acA	p.T99T		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T99T(3)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGCACATCTGGGTGATGCAGC	0.468																																						uc010xob.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(295-297)ACC>ACA		olfactory receptor, family 7, subfamily A,							149.0	131.0	137.0					19																	14991871		2203	4300	6503	SO:0001819	synonymous_variant	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991871G>T	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.297C>A	19.37:g.14991871G>T							p.T99T	NM_030901	NP_112163	O14581	OR7AH_HUMAN			1	297	-	Ovarian(108;0.203)		99			Extracellular (Potential).		Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	37	c.297C>A	CCDS12319.1																																																																																				PASS	0.468	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		71	31	71	31	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17017851	17017851	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:17017851C>A	ENST00000443236.1	-	30	4110	c.4079G>T	c.(4078-4080)tGt>tTt	p.C1360F	RN7SL835P_ENST00000579920.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1313						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.C1360F(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGTCAGGGCACAGCTATAAGG	0.652																																						uc002nfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(4078-4080)TGT>TTT		C3 and PZP-like, alpha-2-macroglobulin domain							33.0	42.0	39.0					19																	17017851		2153	4260	6413	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17017851C>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4079G>T	19.37:g.17017851C>A	ENSP00000402505:p.Cys1360Phe						p.C1360F	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			30	4111	-			1313					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4079G>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.088|8.088	0.773925|0.773925	0.16051|0.16051	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.07|3.07	0.602|0.602	0.17535|0.17535	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);|.	0.381194|.	0.25509|.	U|.	0.030189|.	T|T	0.20941|0.20941	0.0504|0.0504	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	B|.	0.25272|.	0.122|.	B|.	0.27887|.	0.084|.	T|T	0.04115|0.04115	-1.0976|-1.0976	9|5	0.36615|.	T|.	0.2|.	.|.	6.2169|6.2169	0.20659|0.20659	0.0:0.377:0.4881:0.1349|0.0:0.377:0.4881:0.1349	.|.	1313|.	Q8IZJ3|.	CPMD8_HUMAN|.	F|L	1360|1371	.|.	ENSP00000291440:C1360F|.	C|V	-|-	2|1	0|0	CPAMD8|CPAMD8	16878851|16878851	1.000000|1.000000	0.71417|0.71417	0.829000|0.829000	0.32907|0.32907	0.193000|0.193000	0.23685|0.23685	4.252000|4.252000	0.58785|0.58785	0.310000|0.310000	0.22990|0.22990	0.536000|0.536000	0.68110|0.68110	TGT|GTG		PASS	0.652	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		15	0	15	0	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38935234	38935234	+	Missense_Mutation	SNP	C	C	A	rs150038701		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:38935234C>A	ENST00000359596.3	+	7	548	c.548C>A	c.(547-549)aCc>aAc	p.T183N	RYR1_ENST00000360985.3_Missense_Mutation_p.T183N|RYR1_ENST00000355481.4_Missense_Mutation_p.T183N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	183	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.T183N(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CACCTGTCGACCGCCAGTGGG	0.622																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(547-549)ACC>AAC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						36.0	31.0	33.0					19																	38935234		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38935234C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.548C>A	19.37:g.38935234C>A	ENSP00000352608:p.Thr183Asn					RYR1_uc002oiu.2_Missense_Mutation_p.T183N	p.T183N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		7	678	+	all_cancers(60;7.91e-06)		183			Cytoplasmic.|MIR 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.548C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	9.276	1.046898	0.19748	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.90069	-2.61;-2.61;-2.61	4.48	4.48	0.54585	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.192945	0.32147	U	0.006505	D	0.87904	0.6295	N	0.21373	0.66	0.33672	D	0.611062	D;D	0.62365	0.991;0.984	P;P	0.59115	0.852;0.845	D	0.88986	0.3411	10	0.28530	T	0.3	.	14.6786	0.69001	0.0:1.0:0.0:0.0	.	183;183	P21817-2;P21817	.;RYR1_HUMAN	N	183	ENSP00000352608:T183N;ENSP00000347667:T183N;ENSP00000354254:T183N	ENSP00000347667:T183N	T	+	2	0	RYR1	43627074	0.890000	0.30428	0.189000	0.23252	0.188000	0.23474	2.875000	0.48491	2.328000	0.79073	0.455000	0.32223	ACC		PASS	0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	9	3	9	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39330801	39330801	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:39330801C>G	ENST00000221419.5	-	8	1534	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H|AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	390	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.D390H(1)|p.D257H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTAGATTGATCCAAGCCATAG	0.597																																						uc010xul.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1168-1170)GAT>CAT		heterogeneous nuclear ribonucleoprotein L																																				SO:0001583	missense	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330801C>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1168G>C	19.37:g.39330801C>G	ENSP00000221419:p.Asp390His					HNRNPL_uc010ege.1_Missense_Mutation_p.D46H|HNRNPL_uc002ojj.1_Missense_Mutation_p.D46H|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Missense_Mutation_p.D46H|HNRNPL_uc002ojl.2_Missense_Mutation_p.D46H|HNRNPL_uc010xum.1_Missense_Mutation_p.D257H|HNRNPL_uc002ojp.1_Missense_Mutation_p.D46H|HNRNPL_uc010xun.1_Missense_Mutation_p.W97C	p.D390H	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1179	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		390			RRM 3.		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.1168G>C	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524652	0.64747	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	T	0.44881	0.91	5.72	5.72	0.89469	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.042814	0.85682	D	0.000000	T	0.53562	0.1804	L	0.41492	1.28	0.80722	D	1	D;B;D	0.89917	0.985;0.093;1.0	P;B;D	0.63703	0.541;0.019;0.917	T	0.34551	-0.9824	10	0.20519	T	0.43	.	18.6604	0.91470	0.0:1.0:0.0:0.0	.	390;257;373	P14866;A6NIT8;Q6NTA2	HNRPL_HUMAN;.;.	H	390;257;257	ENSP00000221419:D390H	ENSP00000221419:D390H	D	-	1	0	HNRNPL	44022641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.749000	0.68704	2.709000	0.92574	0.555000	0.69702	GAT		PASS	0.597	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			3	53	3	53	---	---	---	---
SUPT5H	6829	broad.mit.edu	37	19	39960853	39960853	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:39960853G>C	ENST00000599117.1	+	18	1836	c.1469G>C	c.(1468-1470)gGc>gCc	p.G490A	SUPT5H_ENST00000402194.2_Missense_Mutation_p.G486A|SUPT5H_ENST00000432763.2_Missense_Mutation_p.G490A|SUPT5H_ENST00000598725.1_Missense_Mutation_p.G490A|SUPT5H_ENST00000359191.6_Missense_Mutation_p.G486A			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	490	KOW 3.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.G490A(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCGACACAGGCCTCATTGTG	0.552																																						uc002olo.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1468-1470)GGC>GCC		suppressor of Ty 5 homolog isoform a							157.0	136.0	143.0					19																	39960853		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39960853G>C	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1469G>C	19.37:g.39960853G>C	ENSP00000470252:p.Gly490Ala					SUPT5H_uc002olp.3_Missense_Mutation_p.G490A|SUPT5H_uc002olq.3_Missense_Mutation_p.G486A|SUPT5H_uc002oln.3_Missense_Mutation_p.G490A|SUPT5H_uc002olr.3_Missense_Mutation_p.G490A|SUPT5H_uc002ols.1_Missense_Mutation_p.G113A|SUPT5H_uc010egp.1_5'Flank	p.G490A	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	1648	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		490			KOW 3.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.1469G>C	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914642	0.92178	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.78	5.78	0.91487	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.87501	0.6193	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.90315	0.4340	8	.	.	.	-25.1695	18.788	0.91963	0.0:0.0:1.0:0.0	.	282;486;490	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	A	490;486;468;490	.	.	G	+	2	0	SUPT5H	44652693	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.675000	0.98638	2.740000	0.93945	0.455000	0.32223	GGC		PASS	0.552	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		10	138	10	138	---	---	---	---
TIMM50	92609	broad.mit.edu	37	19	39978732	39978732	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:39978732G>T	ENST00000607714.1	+	9	750	c.728G>T	c.(727-729)cGa>cTa	p.R243L	TIMM50_ENST00000314349.4_Missense_Mutation_p.R346L|TIMM50_ENST00000544017.1_Missense_Mutation_p.R130L|TIMM50_ENST00000599794.1_Missense_Mutation_p.R47L			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	243	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)	p.R346L(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACCCAGCTCGAGTAGTAGTT	0.552																																						uc002olu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1036-1038)CGA>CTA		translocase of inner mitochondrial membrane 50							170.0	161.0	164.0					19																	39978732		2203	4300	6503	SO:0001583	missense	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39978732G>T	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.728G>T	19.37:g.39978732G>T	ENSP00000475531:p.Arg243Leu					TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_Missense_Mutation_p.R45L	p.R346L	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		9	1170	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		243			Mitochondrial intermembrane (Potential).|FCP1 homology.		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.1037G>T		.	.	.	.	.	.	.	.	.	.	G	27.4	4.832448	0.91036	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	T;T	0.18810	2.19;2.19	4.96	4.96	0.65561	NLI interacting factor (3);HAD-like domain (2);	0.170269	0.45867	D	0.000337	T	0.42562	0.1208	M	0.80847	2.515	0.43480	D	0.995703	D;D	0.64830	0.974;0.994	P;D	0.67900	0.644;0.954	T	0.35126	-0.9801	9	.	.	.	-9.6221	7.3684	0.26787	0.1789:0.0:0.8211:0.0	.	243;346	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	L	346;130	ENSP00000318115:R346L;ENSP00000445806:R130L	.	R	+	2	0	TIMM50	44670572	1.000000	0.71417	0.957000	0.39632	0.991000	0.79684	5.791000	0.69045	2.567000	0.86603	0.655000	0.94253	CGA		PASS	0.552	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		5	141	5	141	---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45321844	45321844	+	Missense_Mutation	SNP	G	G	A	rs200516188		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:45321844G>A	ENST00000270233.6	+	9	1166	c.1144G>A	c.(1144-1146)Gtg>Atg	p.V382M	BCAM_ENST00000589651.1_Missense_Mutation_p.V382M	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	382	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)	p.V382M(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAGTGCAGTCGTGAACTGCTC	0.642																																						uc002ozu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1144-1146)GTG>ATG		basal cell adhesion molecule isoform 1		G	MET/VAL,MET/VAL	0,4406		0,0,2203	87.0	68.0	74.0		1144,1144	-0.3	0.0	19		74	1,8599		0,1,4299	no	missense,missense	BCAM	NM_001013257.1,NM_005581.3	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	382/589,382/629	45321844	1,13005	2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45321844G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1144G>A	19.37:g.45321844G>A	ENSP00000270233:p.Val382Met					BCAM_uc002ozt.1_Missense_Mutation_p.V382M	p.V382M	NM_005581	NP_005572	P50895	BCAM_HUMAN			9	1188	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	382			Extracellular (Potential).|Ig-like C2-type 2.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1144G>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	13.73	2.323624	0.41096	0.0	1.16E-4	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.09911	2.93;2.93	2.96	-0.338	0.12651	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14056	0.0340	L	0.33245	0.995	0.09310	N	1	D	0.69078	0.997	P	0.58520	0.84	T	0.17684	-1.0361	9	0.59425	D	0.04	-4.964	5.0544	0.14525	0.4325:0.0:0.5675:0.0	.	382	P50895	BCAM_HUMAN	M	382	ENSP00000270233:V382M;ENSP00000375817:V382M	ENSP00000270233:V382M	V	+	1	0	BCAM	50013684	0.464000	0.25807	0.006000	0.13384	0.206000	0.24218	0.830000	0.27462	0.012000	0.14892	0.305000	0.20034	GTG		PASS	0.642	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		15	3	15	3	---	---	---	---
PNMAL2	57469	broad.mit.edu	37	19	46998324	46998324	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:46998324C>T	ENST00000377655.2	-	1	398	c.399G>A	c.(397-399)tcG>tcA	p.S133S	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Silent_p.S145S|PNMAL2_ENST00000599531.1_Silent_p.S133S			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	133								p.S133S(1)|p.S145S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCTGCGTCTCCGAAGCGGGAG	0.701																																						uc002pes.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(397-399)TCG>TCA		PNMA-like 2							46.0	49.0	48.0					19																	46998324		2203	4300	6503	SO:0001819	synonymous_variant	57469							g.chr19:46998324C>T	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.399G>A	19.37:g.46998324C>T						uc002peu.1_Silent_p.S145S	p.S133S	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	846	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	133					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.399G>A																																																																																					PASS	0.701	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		22	26	22	26	---	---	---	---
EHD2	30846	broad.mit.edu	37	19	48221846	48221846	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:48221846A>T	ENST00000263277.3	+	3	736	c.485A>T	c.(484-486)aAg>aTg	p.K162M	EHD2_ENST00000538399.1_Missense_Mutation_p.K26M|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	162	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.K162M(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TCGGGTGCCAAGCAGAGAGTG	0.667																																						uc002phj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(484-486)AAG>ATG		EH-domain containing 2							44.0	35.0	38.0					19																	48221846		2196	4292	6488	SO:0001583	missense	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48221846A>T	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.485A>T	19.37:g.48221846A>T	ENSP00000263277:p.Lys162Met					EHD2_uc010xyu.1_Missense_Mutation_p.K26M	p.K162M	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	3	735	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	162					B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	c.485A>T	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.885432	0.72410	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399	D;D	0.97209	-4.29;-4.29	4.36	4.36	0.52297	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98727	1.0711	10	0.66056	D	0.02	-25.5401	11.8162	0.52211	1.0:0.0:0.0:0.0	.	162	Q9NZN4	EHD2_HUMAN	M	162;162;152;26	ENSP00000263277:K162M;ENSP00000439036:K26M	ENSP00000263277:K162M	K	+	2	0	EHD2	52913658	1.000000	0.71417	0.498000	0.27564	0.867000	0.49689	9.036000	0.93758	1.964000	0.57103	0.455000	0.32223	AAG		PASS	0.667	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			15	0	15	0	---	---	---	---
GRIN2D	2906	broad.mit.edu	37	19	48922942	48922942	+	Silent	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:48922942C>G	ENST00000263269.3	+	9	2050	c.1962C>G	c.(1960-1962)acC>acG	p.T654T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	654					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.T654T(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGGAACCACCAGCAAAATCA	0.592																																						uc002pjc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)	6						c.(1960-1962)ACC>ACG		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						111.0	103.0	106.0					19																	48922942		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48922942C>G	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1962C>G	19.37:g.48922942C>G						GRIN2D_uc010elx.2_5'UTR	p.T654T	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	9	2050	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	654			Cytoplasmic (Potential).			Silent	SNP	ENST00000263269.3	37	c.1962C>G	CCDS12719.1																																																																																				PASS	0.592	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			5	130	5	130	---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49845759	49845759	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:49845759T>G	ENST00000311227.2	-	11	1256	c.1166A>C	c.(1165-1167)aAg>aCg	p.K389T	TEAD2_ENST00000601519.1_Missense_Mutation_p.K392T|CTC-301O7.4_ENST00000358234.4_lincRNA|TEAD2_ENST00000598810.1_Missense_Mutation_p.K393T|TEAD2_ENST00000377214.4_Missense_Mutation_p.K392T|TEAD2_ENST00000593945.1_Missense_Mutation_p.K393T|TEAD2_ENST00000539846.1_Missense_Mutation_p.K261T	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	389	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K389T(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CTGCCGCAACTTGTGCAAGAA	0.607																																						uc002pnj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1165-1167)AAG>ACG		TEA domain family member 2							73.0	67.0	69.0					19																	49845759		2203	4300	6503	SO:0001583	missense	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49845759T>G	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.1166A>C	19.37:g.49845759T>G	ENSP00000310701:p.Lys389Thr					uc002pnb.1_5'Flank|TEAD2_uc002png.2_Missense_Mutation_p.K392T|TEAD2_uc002pnh.2_Missense_Mutation_p.K393T|TEAD2_uc002pni.2_Missense_Mutation_p.K392T|TEAD2_uc010yao.1_Missense_Mutation_p.K261T|TEAD2_uc010emw.2_Missense_Mutation_p.K392T	p.K389T	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	11	1257	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	389			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	c.1166A>C	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120247	0.77323	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.35236	1.32;1.32;1.32	3.76	3.76	0.43208	.	0.000000	0.64402	D	0.000008	T	0.53400	0.1794	M	0.72894	2.215	0.58432	D	0.999996	P;D;B	0.54207	0.904;0.965;0.446	P;P;B	0.61477	0.644;0.889;0.117	T	0.58370	-0.7648	10	0.87932	D	0	-22.4615	11.0912	0.48117	0.0:0.0:0.0:1.0	.	261;389;392	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	T	389;392;261	ENSP00000310701:K389T;ENSP00000366419:K392T;ENSP00000437928:K261T	ENSP00000310701:K389T	K	-	2	0	TEAD2	54537571	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	8.014000	0.88676	1.673000	0.50895	0.418000	0.28097	AAG		PASS	0.607	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		31	15	31	15	---	---	---	---
FPR3	2359	broad.mit.edu	37	19	52327627	52327627	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:52327627G>C	ENST00000339223.4	+	2	805	c.626G>C	c.(625-627)gGc>gCc	p.G209A	FPR3_ENST00000595991.1_Missense_Mutation_p.G209A	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	209					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.G209A(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTCATTATTGGCTTCAGCGTG	0.458																																						uc002pxt.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(1)|skin(1)	6						c.(625-627)GGC>GCC		formyl peptide receptor-like 2							147.0	118.0	128.0					19																	52327627		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327627G>C		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.626G>C	19.37:g.52327627G>C	ENSP00000341821:p.Gly209Ala						p.G209A	NM_002030	NP_002021	P25089	FPR3_HUMAN			2	810	+			209			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000339223.4	37	c.626G>C	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.655314	0.29425	.	.	ENSG00000187474	ENST00000339223	T	0.71341	-0.56	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.79614	2.46	0.32904	D	0.513561	D	0.76494	0.999	D	0.74674	0.984	D	0.85071	0.0940	10	0.72032	D	0.01	.	10.3497	0.43927	0.0:0.0:1.0:0.0	.	209	P25089	FPR3_HUMAN	A	209	ENSP00000341821:G209A	ENSP00000341821:G209A	G	+	2	0	FPR3	57019439	1.000000	0.71417	0.200000	0.23457	0.066000	0.16364	5.127000	0.64727	1.323000	0.45263	0.467000	0.42956	GGC		PASS	0.458	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		36	5	36	5	---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53384241	53384241	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:53384241T>G	ENST00000595635.1	-	8	1639	c.1138A>C	c.(1138-1140)Act>Cct	p.T380P	ZNF320_ENST00000391781.2_Missense_Mutation_p.T380P|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	380					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.T380P(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CTCTCTCCAGTATGAACTCTC	0.403																																						uc002qag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1138-1140)ACT>CCT		zinc finger protein 320							116.0	110.0	112.0					19																	53384241		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384241T>G	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1138A>C	19.37:g.53384241T>G	ENSP00000473091:p.Thr380Pro					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.T326P|ZNF320_uc002qai.2_Missense_Mutation_p.T380P	p.T380P	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1329	-			380					Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1138A>C	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	13.20	2.166685	0.38217	.	.	ENSG00000182986	ENST00000391781	T	0.25749	1.78	1.74	0.566	0.17317	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43100	0.1232	M	0.66439	2.03	0.26213	N	0.979265	D	0.89917	1.0	D	0.91635	0.999	T	0.21177	-1.0253	9	0.87932	D	0	.	5.7734	0.18265	0.2388:0.0:0.0:0.7612	.	380	A2RRD8	ZN320_HUMAN	P	380	ENSP00000375660:T380P	ENSP00000375660:T380P	T	-	1	0	ZNF320	58076053	0.236000	0.23804	0.293000	0.24932	0.506000	0.33950	0.561000	0.23515	-0.060000	0.13132	0.155000	0.16302	ACT		PASS	0.403	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		29	41	29	41	---	---	---	---
LILRA5	353514	broad.mit.edu	37	19	54818729	54818729	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:54818729T>C	ENST00000301219.3	-	7	988	c.869A>G	c.(868-870)cAg>cGg	p.Q290R	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.Q278R	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	290					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q290R(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGCTTCTCTGGCTGTGCCA	0.522																																						uc002qfe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(868-870)CAG>CGG		leukocyte immunoglobulin-like receptor subfamily							83.0	83.0	83.0					19																	54818729		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54818729T>C	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.869A>G	19.37:g.54818729T>C	ENSP00000301219:p.Gln290Arg					LILRA5_uc002qff.2_Missense_Mutation_p.Q278R	p.Q290R	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	989	-	Ovarian(34;0.19)		290			Cytoplasmic (Potential).		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.869A>G	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.091069	0.55968	.	.	ENSG00000187116	ENST00000301219;ENST00000346508	T;T	0.00484	7.19;7.08	2.37	2.37	0.29283	.	.	.	.	.	T	0.00271	0.0008	L	0.28556	0.865	0.23685	N	0.997115	B;B	0.31581	0.095;0.329	B;B	0.29942	0.047;0.109	T	0.20638	-1.0269	9	0.02654	T	1	.	6.6367	0.22887	0.0:0.0:0.0:1.0	.	278;290	A6NI73-2;A6NI73	.;LIRA5_HUMAN	R	290;278	ENSP00000301219:Q290R;ENSP00000302948:Q278R	ENSP00000301219:Q290R	Q	-	2	0	LILRA5	59510541	0.000000	0.05858	0.093000	0.20910	0.683000	0.39861	-0.397000	0.07269	1.336000	0.45506	0.332000	0.21555	CAG		PASS	0.522	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		22	42	22	42	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55144596	55144596	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:55144596C>A	ENST00000396331.1	+	8	1445	c.1088C>A	c.(1087-1089)gCt>gAt	p.A363D	LILRB1_ENST00000396332.4_Missense_Mutation_p.A363D|LILRB1_ENST00000324602.7_Missense_Mutation_p.A363D|LILRB1_ENST00000396315.1_Missense_Mutation_p.A363D|LILRB1_ENST00000448689.1_Missense_Mutation_p.A363D|LILRB1_ENST00000434867.2_Missense_Mutation_p.A363D|LILRB1_ENST00000396327.3_Missense_Mutation_p.A363D|LILRB1_ENST00000418536.2_Missense_Mutation_p.A363D|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.A363D|LILRB1_ENST00000396317.1_Missense_Mutation_p.A363D|LILRB1_ENST00000427581.2_Missense_Mutation_p.A399D	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	363	Ig-like C2-type 4.				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.A363D(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)		GAGGGGGCAGCTGATGACCCA	0.577										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1087-1089)GCT>GAT		leukocyte immunoglobulin-like receptor,							105.0	114.0	111.0					19																	55144596		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.chr19:55144596C>A	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.1088C>A	19.37:g.55144596C>A	ENSP00000379622:p.Ala363Asp	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.A363D|LILRB1_uc002qgk.2_Missense_Mutation_p.A363D|LILRB1_uc002qgm.2_Missense_Mutation_p.A363D|LILRB1_uc010erq.2_Missense_Mutation_p.A363D|LILRB1_uc010err.2_RNA	p.A363D	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	8	1428	+			363			Ig-like C2-type 4.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1088C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018500	0.35606	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07	2.25	-0.179	0.13299	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.403040	0.04953	N	0.460674	T	0.14527	0.0351	M	0.72479	2.2	0.09310	N	1	P;D;D;D;D	0.89917	0.954;0.969;1.0;0.999;0.996	P;P;D;D;D	0.76071	0.566;0.828;0.987;0.986;0.978	T	0.14980	-1.0453	10	0.87932	D	0	.	4.6828	0.12743	0.0:0.6469:0.0:0.3531	.	363;363;363;363;363	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	D	363;363;363;363;363;363;363;363;399;363;363	ENSP00000379614:A363D;ENSP00000391514:A363D;ENSP00000409968:A363D;ENSP00000379622:A363D;ENSP00000379618:A363D;ENSP00000315997:A363D;ENSP00000405243:A363D;ENSP00000379623:A363D;ENSP00000395004:A399D;ENSP00000379610:A363D;ENSP00000379608:A363D	ENSP00000315997:A363D	A	+	2	0	LILRB1	59836408	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.746000	0.04829	-0.082000	0.12640	0.205000	0.17691	GCT		PASS	0.577	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			33	41	33	41	---	---	---	---
ZNF416	55659	broad.mit.edu	37	19	58087182	58087182	+	Silent	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:58087182T>A	ENST00000196489.3	-	3	414	c.192A>T	c.(190-192)atA>atT	p.I64I		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	64	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)	p.I64I(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CCAGCGCAGTTATAAGTGCAA	0.557																																						uc002qpf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(190-192)ATA>ATT		zinc finger protein 416							181.0	161.0	168.0					19																	58087182		2203	4300	6503	SO:0001819	synonymous_variant	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58087182T>A	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.192A>T	19.37:g.58087182T>A						ZNF547_uc002qpm.3_Intron	p.I64I	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	363	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	64			KRAB.		Q9NWW8	Silent	SNP	ENST00000196489.3	37	c.192A>T	CCDS12954.1																																																																																				PASS	0.557	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		71	39	71	39	---	---	---	---
ZSCAN22	342945	broad.mit.edu	37	19	58850392	58850392	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:58850392C>G	ENST00000329665.4	+	3	1323	c.1176C>G	c.(1174-1176)agC>agG	p.S392R		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	392					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.S392R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TCAGCCAGAGCACGCACCTGA	0.642																																						uc002qsc.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1174-1176)AGC>AGG		zinc finger and SCAN domain containing 22							80.0	72.0	75.0					19																	58850392		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850392C>G	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1176C>G	19.37:g.58850392C>G	ENSP00000332433:p.Ser392Arg					ZSCAN22_uc010yhz.1_3'UTR	p.S392R	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1323	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	392			C2H2-type 5.		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1176C>G	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	2.625	-0.287613	0.05605	.	.	ENSG00000182318	ENST00000329665	T	0.06768	3.26	3.93	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.17564	0.495	0.31407	N	0.675929	B	0.30584	0.286	B	0.21546	0.035	T	0.38478	-0.9659	9	0.20519	T	0.43	.	6.5854	0.22618	0.1777:0.7223:0.0:0.1	.	392	P10073	ZSC22_HUMAN	R	392	ENSP00000332433:S392R	ENSP00000332433:S392R	S	+	3	2	ZSCAN22	63542204	0.000000	0.05858	0.991000	0.47740	0.036000	0.12997	-2.395000	0.01053	0.397000	0.25310	0.563000	0.77884	AGC		PASS	0.642	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		35	33	35	33	---	---	---	---
TMEM74B	55321	broad.mit.edu	37	20	1161744	1161744	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr20:1161744C>T	ENST00000381894.3	-	2	1190	c.519G>A	c.(517-519)ctG>ctA	p.L173L	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	173						integral component of membrane (GO:0016021)		p.L173L(1)									TGCACCTGTCCAGGTGGGAGC	0.642																																						uc010gaa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(517-519)CTG>CTA		hypothetical protein LOC55321							58.0	38.0	45.0					20																	1161744		2203	4300	6503	SO:0001819	synonymous_variant	55321					integral to membrane	protein binding	g.chr20:1161744C>T	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.519G>A	20.37:g.1161744C>T						C20orf46_uc002weq.1_Silent_p.L173L	p.L173L	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN			3	738	-			173					D3DVW5	Silent	SNP	ENST00000381894.3	37	c.519G>A	CCDS13011.1																																																																																				PASS	0.642	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		9	15	9	15	---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2779185	2779185	+	Splice_Site	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr20:2779185T>A	ENST00000380605.2	-	3	405		c.e3-2			NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GAGGACAGCCTGGGGCGGGGA	0.622																																						uc002wgu.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(2)	4						c.e3-1		carboxypeptidase X, member 1 precursor							33.0	36.0	35.0					20																	2779185		2203	4300	6503	SO:0001630	splice_region_variant	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2779185T>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.341-2A>T	20.37:g.2779185T>A						CPXM1_uc010gas.2_Splice_Site_p.G114_splice	p.G114_splice	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			3	405	-								Q6P4G8|Q6UW65|Q9NUB5	Splice_Site	SNP	ENST00000380605.2	37	c.341_splice	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606552	0.66445	.	.	ENSG00000088882	ENST00000380605	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9953	0.53198	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPXM1	2727185	1.000000	0.71417	0.994000	0.49952	0.807000	0.45602	7.663000	0.83820	1.942000	0.56320	0.460000	0.39030	.		PASS	0.622	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	Intron	11	22	11	22	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8713943	8713943	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr20:8713943A>T	ENST00000338037.6	+	19	1974	c.1947A>T	c.(1945-1947)agA>agT	p.R649S	PLCB1_ENST00000378637.2_Missense_Mutation_p.R649S|PLCB1_ENST00000378641.3_Missense_Mutation_p.R649S|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	649	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.R649S(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTGGCTACAGATTGAAGCCAG	0.408																																						uc002wnb.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1945-1947)AGA>AGT		phosphoinositide-specific phospholipase C beta 1							127.0	115.0	119.0					20																	8713943		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8713943A>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1947A>T	20.37:g.8713943A>T	ENSP00000338185:p.Arg649Ser					PLCB1_uc010zrb.1_Missense_Mutation_p.R548S|PLCB1_uc002wna.2_Missense_Mutation_p.R649S|PLCB1_uc002wnc.1_Missense_Mutation_p.R548S|PLCB1_uc002wnd.1_Missense_Mutation_p.R226S	p.R649S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			19	1950	+			649			PI-PLC Y-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1947A>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.359903	0.41801	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.66460	-0.21;-0.21;-0.21	5.13	0.331	0.15933	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	L	0.40543	1.245	0.39353	D	0.965793	P;D	0.61697	0.851;0.99	P;D	0.64042	0.657;0.921	T	0.69083	-0.5239	10	0.87932	D	0	.	10.5405	0.45031	0.5255:0.0:0.4745:0.0	.	649;649	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	S	649;649;649;569;569	ENSP00000367908:R649S;ENSP00000338185:R649S;ENSP00000367904:R649S	ENSP00000338185:R649S	R	+	3	2	PLCB1	8661943	0.957000	0.32711	0.358000	0.25811	0.177000	0.22998	0.341000	0.19909	-0.145000	0.11294	0.491000	0.48974	AGA		PASS	0.408	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			27	38	27	38	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20079442	20079442	+	Missense_Mutation	SNP	T	T	A	rs550453497		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr20:20079442T>A	ENST00000245957.5	+	8	919	c.843T>A	c.(841-843)agT>agA	p.S281R	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.S281R|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.S281R	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		281								p.S281R(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)		AAGACCTAAGTGTCCGAAGAA	0.468																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(841-843)AGT>AGA		hypothetical protein LOC26074							125.0	100.0	109.0					20																	20079442		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20079442T>A																												ENST00000245957.5:c.843T>A	20.37:g.20079442T>A	ENSP00000245957:p.Ser281Arg					C20orf26_uc010gcw.1_Missense_Mutation_p.S235R|C20orf26_uc010zse.1_Missense_Mutation_p.S281R|C20orf26_uc010zsf.1_Missense_Mutation_p.S281R	p.S281R	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	8	919	+			281					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.843T>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073622	0.55646	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000442372;ENST00000377297	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	4.88	-2.67	0.06059	.	0.878584	0.09481	N	0.796311	T	0.07818	0.0196	L	0.50333	1.59	0.09310	N	0.999998	P;P;B;B	0.49559	0.925;0.659;0.4;0.003	B;B;B;B	0.42422	0.387;0.368;0.077;0.007	T	0.15093	-1.0449	10	0.49607	T	0.09	.	4.5155	0.11934	0.2457:0.3824:0.0:0.3719	.	281;281;235;281	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	R	235;281;281;281;281;281;40;73	ENSP00000345553:S235R;ENSP00000245957:S281R;ENSP00000366521:S281R;ENSP00000414537:S281R;ENSP00000397311:S40R	ENSP00000245957:S281R	S	+	3	2	C20orf26	20027442	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.185000	0.09684	-0.883000	0.03982	-0.333000	0.08304	AGT		PASS	0.468	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			16	25	16	25	---	---	---	---
NFS1	9054	broad.mit.edu	37	20	34285673	34285673	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr20:34285673C>T	ENST00000374092.4	-	3	327	c.257G>A	c.(256-258)gGg>gAg	p.G86E	NFS1_ENST00000541387.1_Missense_Mutation_p.G86E|NFS1_ENST00000397425.1_Missense_Mutation_p.G26E|NFS1_ENST00000374085.1_Missense_Mutation_p.G26E|ROMO1_ENST00000336695.4_5'Flank|ROMO1_ENST00000374078.1_5'Flank|NFS1_ENST00000306750.3_Missense_Mutation_p.G86E|ROMO1_ENST00000374072.1_5'Flank|ROMO1_ENST00000374077.3_5'Flank|NFS1_ENST00000540053.1_5'UTR|ROMO1_ENST00000397416.1_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	86					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.G86E(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	GTGTGGGTTCCCATAGTAGTT	0.517																																						uc002xdw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(256-258)GGG>GAG		NFS1 nitrogen fixation 1 precursor	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						121.0	109.0	113.0					20																	34285673		2203	4300	6503	SO:0001583	missense	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34285673C>T	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.257G>A	20.37:g.34285673C>T	ENSP00000363205:p.Gly86Glu					NFS1_uc002xdt.1_Missense_Mutation_p.G26E|NFS1_uc002xdu.1_Missense_Mutation_p.G26E|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Missense_Mutation_p.G86E|NFS1_uc002xdx.2_Missense_Mutation_p.G86E|ROMO1_uc002xdy.2_5'Flank|ROMO1_uc010gfm.2_5'Flank	p.G86E	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		3	321	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		86					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	c.257G>A	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134721	0.94517	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000541387;ENST00000537772;ENST00000419569;ENST00000306750	D;D;D;T;D;D	0.89746	-2.56;-2.56;-2.56;1.46;-2.56;-2.56	5.75	4.81	0.61882	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.97309	0.9120	H	0.99834	4.825	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	0.98664	1.0685	10	0.87932	D	0	-13.7177	14.7194	0.69294	0.0:0.9305:0.0:0.0694	.	86;86;86	F5GYK5;Q8WV90;Q9Y697	.;.;NFS1_HUMAN	E	86;26;26;86;86;26;86	ENSP00000363205:G86E;ENSP00000363198:G26E;ENSP00000380570:G26E;ENSP00000440897:G86E;ENSP00000393482:G26E;ENSP00000304740:G86E	ENSP00000304740:G86E	G	-	2	0	NFS1	33749087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.676000	0.84012	1.443000	0.47586	0.591000	0.81541	GGG		PASS	0.517	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		8	30	8	30	---	---	---	---
MYL9	10398	broad.mit.edu	37	20	35177601	35177601	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr20:35177601C>T	ENST00000279022.2	+	4	572	c.468C>T	c.(466-468)taC>taT	p.Y156Y	MYL9_ENST00000346786.2_Silent_p.Y102Y|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	156	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.Y156Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACTTCAACTACGTGGAGTTCA	0.602																																						uc002xfl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(466-468)TAC>TAT		myosin regulatory light chain 9 isoform a							108.0	92.0	97.0					20																	35177601		2203	4300	6503	SO:0001819	synonymous_variant	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35177601C>T	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.468C>T	20.37:g.35177601C>T						uc002xfk.3_Intron|MYL9_uc002xfm.1_Silent_p.Y102Y	p.Y156Y	NM_006097	NP_006088	P24844	MYL9_HUMAN			4	562	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	156			EF-hand 3.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	ENST00000279022.2	37	c.468C>T	CCDS13276.1																																																																																				PASS	0.602	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		16	38	16	38	---	---	---	---
DHX35	60625	broad.mit.edu	37	20	37657130	37657130	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr20:37657130C>G	ENST00000252011.3	+	19	1904	c.1871C>G	c.(1870-1872)aCt>aGt	p.T624S	DHX35_ENST00000373323.4_Missense_Mutation_p.T593S|DHX35_ENST00000373325.2_Missense_Mutation_p.T624S	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	624					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.T624S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TTTCATTCTACTGGAGCTTAT	0.468																																						uc002xjh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(1870-1872)ACT>AGT		DEAH (Asp-Glu-Ala-His) box polypeptide 35							124.0	118.0	120.0					20																	37657130		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37657130C>G	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1871C>G	20.37:g.37657130C>G	ENSP00000252011:p.Thr624Ser					DHX35_uc010zwa.1_Missense_Mutation_p.T469S|DHX35_uc010zwb.1_Missense_Mutation_p.T469S|DHX35_uc010zwc.1_Missense_Mutation_p.T593S	p.T624S	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			19	1882	+		Myeloproliferative disorder(115;0.00878)	624					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1871C>G	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.442774	0.25987	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T;T	0.29142	4.27;4.3;4.3;1.58	5.37	4.42	0.53409	Domain of unknown function DUF1605 (1);	0.097037	0.64402	N	0.000001	T	0.15522	0.0374	N	0.10707	0.03	0.39361	D	0.965928	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.07481	-1.0770	10	0.07325	T	0.83	.	15.5749	0.76368	0.0:0.8617:0.1383:0.0	.	593;624	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	S	624;624;593;104;88	ENSP00000362422:T624S;ENSP00000252011:T624S;ENSP00000362420:T593S;ENSP00000397997:T88S	ENSP00000252011:T624S	T	+	2	0	DHX35	37090544	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	4.100000	0.57762	1.362000	0.46000	0.655000	0.94253	ACT		PASS	0.468	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		22	50	22	50	---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39802790	39802790	+	Silent	SNP	C	C	T	rs535997909		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr20:39802790C>T	ENST00000373271.1	+	31	4074	c.3669C>T	c.(3667-3669)ttC>ttT	p.F1223F	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373272.2_Silent_p.F1224F|PLCG1_ENST00000244007.3_Silent_p.F1224F	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1223					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.F1224F(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCAGTCCCTTCAGTGGTACGT	0.607																																						uc002xjp.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(3)|skin(2)	8						c.(3667-3669)TTC>TTT		phospholipase C, gamma 1 isoform b							71.0	75.0	74.0					20																	39802790		2203	4300	6503	SO:0001819	synonymous_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39802790C>T	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3669C>T	20.37:g.39802790C>T						PLCG1_uc002xjo.1_Silent_p.F1224F|PLCG1_uc010zwe.1_Silent_p.F889F	p.F1223F	NM_182811	NP_877963	P19174	PLCG1_HUMAN			31	3790	+		Myeloproliferative disorder(115;0.00878)	1223					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	c.3669C>T	CCDS13314.1																																																																																				PASS	0.607	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		37	29	37	29	---	---	---	---
ZBP1	81030	broad.mit.edu	37	20	56185336	56185336	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr20:56185336C>T	ENST00000371173.3	-	7	1139	c.962G>A	c.(961-963)aGa>aAa	p.R321K	ZBP1_ENST00000340462.4_Missense_Mutation_p.R298K|ZBP1_ENST00000395822.3_Missense_Mutation_p.R246K|ZBP1_ENST00000343535.4_Missense_Mutation_p.R321K	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	321					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.R321K(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CATGTGGATTCTCTGGGCGGC	0.582																																						uc002xyo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(961-963)AGA>AAA		Z-DNA binding protein 1 isoform a							209.0	222.0	218.0					20																	56185336		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56185336C>T	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.962G>A	20.37:g.56185336C>T	ENSP00000360215:p.Arg321Lys					ZBP1_uc010gjm.2_Missense_Mutation_p.R320K|ZBP1_uc002xyp.2_Missense_Mutation_p.R246K	p.R321K	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		7	1243	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		321					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.962G>A	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	5.223	0.226673	0.09916	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.11277	3.16;2.79;3.16;3.14	4.03	-3.02	0.05446	.	1.214330	0.05906	N	0.630925	T	0.05868	0.0153	L	0.42245	1.32	0.09310	N	1	B;B;B	0.26081	0.141;0.001;0.053	B;B;B	0.15052	0.012;0.001;0.012	T	0.37888	-0.9686	10	0.05721	T	0.95	-2.6093	0.1242	0.00067	0.3221:0.1854:0.1605:0.332	.	321;246;321	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	K	321;246;298;321;321	ENSP00000360215:R321K;ENSP00000379167:R246K;ENSP00000344954:R298K;ENSP00000340584:R321K	ENSP00000344954:R298K	R	-	2	0	ZBP1	55618742	0.003000	0.15002	0.024000	0.17045	0.002000	0.02628	-1.744000	0.01832	-0.588000	0.05882	-1.177000	0.01723	AGA		PASS	0.582	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		108	78	108	78	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57415527	57415527	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr20:57415527G>C	ENST00000313949.7	+	1	755	c.366G>C	c.(364-366)gaG>gaC	p.E122D	GNAS_ENST00000371098.2_Missense_Mutation_p.E122D|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E122D			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E122D(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCGAGTCCGAGACCGACTTCG	0.637			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzt.2				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		1	Substitution - Missense(1)		lung(1)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(364-366)GAG>GAC		GNAS complex locus NESP55							103.0	94.0	97.0					20																	57415527		2203	4300	6503	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415527G>C	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.366G>C	20.37:g.57415527G>C	ENSP00000323571:p.Glu122Asp	TSP Lung(22;0.16)				GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	p.E122D	NM_016592	NP_057676	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	733	+	all_lung(29;0.0104)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.366G>C	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026394	0.35701	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.78	-0.0221	0.13948	.	.	.	.	.	T	0.29355	0.0731	N	0.24115	0.695	0.58432	D	0.999999	B	0.06786	0.001	B	0.12156	0.007	T	0.07443	-1.0772	8	0.18710	T	0.47	.	3.1301	0.06420	0.0969:0.3306:0.403:0.1695	.	122	O95467	GNAS3_HUMAN	D	122;122;122;43	.	ENSP00000323571:E122D	E	+	3	2	GNAS	56848922	0.708000	0.27876	0.991000	0.47740	0.989000	0.77384	0.089000	0.15002	0.138000	0.18790	0.585000	0.79938	GAG		PASS	0.637	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		15	43	15	43	---	---	---	---
ERG	2078	broad.mit.edu	37	21	39795353	39795353	+	Missense_Mutation	SNP	G	G	A	rs187337793		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr21:39795353G>A	ENST00000417133.2	-	5	573	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	ERG_ENST00000288319.7_Missense_Mutation_p.R123C|ERG_ENST00000453032.2_Missense_Mutation_p.R31C|ERG_ENST00000398905.1_Missense_Mutation_p.R123C|ERG_ENST00000442448.1_Missense_Mutation_p.R130C|ERG_ENST00000398897.1_Missense_Mutation_p.R31C|ERG_ENST00000398911.1_Missense_Mutation_p.R130C|ERG_ENST00000398919.2_Missense_Mutation_p.R130C|ERG_ENST00000429727.2_Missense_Mutation_p.R123C|ERG_ENST00000398907.1_Missense_Mutation_p.R123C|ERG_ENST00000398910.1_Missense_Mutation_p.R130C	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	148	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.R130C(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ATAACTCTGCGCTCGTTCGTG	0.602			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								G|||	1	0.000199681	0.0	0.0	5008	,	,		15543	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2				Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	1	Substitution - Missense(1)		lung(1)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.(388-390)CGC>TGC		ets-related isoform 4							237.0	153.0	182.0					21																	39795353		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39795353G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.388C>T	21.37:g.39795353G>A	ENSP00000414150:p.Arg130Cys					ERG_uc002yxa.2_Missense_Mutation_p.R123C|ERG_uc011aek.1_Missense_Mutation_p.R31C|ERG_uc010gnv.2_Missense_Mutation_p.R31C|ERG_uc010gnx.2_Missense_Mutation_p.R130C|ERG_uc011ael.1_Missense_Mutation_p.R130C|ERG_uc002yxb.2_Missense_Mutation_p.R130C|ERG_uc011aem.1_Missense_Mutation_p.R123C|ERG_uc002yxc.3_Missense_Mutation_p.R130C	p.R130C	NM_001136155	NP_001129627	P11308	ERG_HUMAN			5	683	-		Prostate(19;3.6e-06)	130			PNT.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.388C>T	CCDS46648.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.5	3.997271	0.74818	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.05	4.1	0.47936	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.106537	0.64402	D	0.000013	T	0.47801	0.1465	L	0.49350	1.555	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.997;0.992;0.981	T	0.46978	-0.9152	10	0.87932	D	0	.	12.5625	0.56291	0.0:0.0:0.7103:0.2897	.	123;130;123;130;130;123	B4E3C5;P11308;B5MDW0;P11308-6;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.;.	C	123;123;123;31;130;130;130;130;31;130;123	ENSP00000381877:R123C;ENSP00000381879:R123C;ENSP00000288319:R123C;ENSP00000381871:R31C;ENSP00000381882:R130C;ENSP00000414150:R130C;ENSP00000381881:R130C;ENSP00000394694:R130C;ENSP00000396268:R31C;ENSP00000381891:R130C	ENSP00000288319:R123C	R	-	1	0	ERG	38717223	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.206000	0.42779	2.503000	0.84419	0.561000	0.74099	CGC		PASS	0.602	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		9	17	9	17	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41551009	41551009	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr21:41551009G>C	ENST00000400454.1	-	15	3269	c.2792C>G	c.(2791-2793)tCt>tGt	p.S931C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	931	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S931C(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTCTGAGCAGAATCCCAGGA	0.433																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(2791-2793)TCT>TGT		Down syndrome cell adhesion molecule isoform							149.0	143.0	145.0					21																	41551009		1899	4118	6017	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41551009G>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2792C>G	21.37:g.41551009G>C	ENSP00000383303:p.Ser931Cys					DSCAM_uc002yyr.1_RNA	p.S931C	NM_001389	NP_001380	O60469	DSCAM_HUMAN			15	3244	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	931			Extracellular (Potential).|Fibronectin type-III 1.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2792C>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611746	0.66558	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.60171	0.21;0.32	4.5	4.5	0.54988	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.196582	0.44688	D	0.000432	T	0.66317	0.2777	L	0.51422	1.61	0.39511	D	0.968369	D	0.64830	0.994	P	0.57371	0.819	T	0.67658	-0.5614	10	0.37606	T	0.19	.	17.1669	0.86819	0.0:0.0:1.0:0.0	.	931	O60469	DSCAM_HUMAN	C	931;683	ENSP00000383303:S931C;ENSP00000385342:S683C	ENSP00000383303:S931C	S	-	2	0	DSCAM	40472879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.511000	0.60462	2.208000	0.71279	0.561000	0.74099	TCT		PASS	0.433	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		33	4	33	4	---	---	---	---
BACE2	25825	broad.mit.edu	37	21	42609440	42609440	+	Splice_Site	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr21:42609440G>T	ENST00000330333.6	+	3	865	c.402G>T	c.(400-402)agG>agT	p.R134S	BACE2_ENST00000347667.5_Splice_Site_p.R134S|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Splice_Site_p.R134S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	134					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)	p.R134S(1)		endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTTTCTCCAGGTCTAGCACAT	0.428																																						uc002yyw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(400-402)AGG>AGT		beta-site APP-cleaving enzyme 2 isoform A							49.0	42.0	44.0					21																	42609440		2203	4300	6503	SO:0001630	splice_region_variant	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42609440G>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.402-1G>T	21.37:g.42609440G>T						BACE2_uc002yyx.2_Missense_Mutation_p.R134S|BACE2_uc002yyy.2_Missense_Mutation_p.R134S	p.R134S	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN			3	865	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	134			Extracellular (Potential).		A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.402G>T	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	G	8.956	0.969305	0.18659	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.56611	0.45;0.45;0.45	5.85	4.95	0.65309	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.203588	0.39687	N	0.001296	T	0.40398	0.1115	N	0.25957	0.775	0.37463	D	0.915313	B;B;B	0.14012	0.009;0.006;0.002	B;B;B	0.12156	0.005;0.007;0.004	T	0.31724	-0.9933	9	.	.	.	.	15.6116	0.76727	0.0:0.2678:0.7322:0.0	.	134;134;134	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	S	134;134;134;39	ENSP00000332979:R134S;ENSP00000327528:R134S;ENSP00000333854:R134S	.	R	+	3	2	BACE2	41531310	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	0.711000	0.25764	1.441000	0.47550	0.585000	0.79938	AGG		PASS	0.428	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1		Missense_Mutation	18	2	18	2	---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47422159	47422159	+	Silent	SNP	G	G	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr21:47422159G>C	ENST00000361866.3	+	32	2208	c.2094G>C	c.(2092-2094)gcG>gcC	p.A698A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	698	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)	p.A698A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGTGGATGGCGGGCGGCACCT	0.701																																						uc002zhu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2092-2094)GCG>GCC		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						11.0	11.0	11.0					21																	47422159		2159	4259	6418	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47422159G>C	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2094G>C	21.37:g.47422159G>C						COL6A1_uc010gqd.1_Silent_p.A29A|COL6A1_uc002zhv.1_Silent_p.A29A|COL6A1_uc002zhw.1_5'Flank	p.A698A	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	32	2196	+	all_hematologic(128;0.24)		698			VWFA 2.|C-terminal globular domain.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2094G>C	CCDS13727.1																																																																																				PASS	0.701	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		3	6	3	6	---	---	---	---
IGLV3-21	28796	broad.mit.edu	37	22	23055659	23055659	+	RNA	SNP	G	G	C	rs544862186	byFrequency	TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr22:23055659G>C	ENST00000390308.2	+	0	573									immunoglobulin lambda variable 3-21																		TTACTGTCAGGTGTGGGATAG	0.582													-|||	3	0.000599042	0.0015	0.0	5008	,	,		12711	0.0		0.0	False		,,,				2504	0.001					uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							46.0	47.0	47.0					22																	23055659		1969	4148	6117			96610							g.chr22:23055659G>C	X71966		22q11.2	2012-02-08			ENSG00000211662	ENSG00000211662		"""Immunoglobulins / IGL locus"""	5905	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151213		22.37:g.23055659G>C														153		+									RNA	SNP	ENST00000390308.2	37	c.9374G>C																																																																																					PASS	0.582	IGLV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321817.1	NG_000002		17	14	17	14	---	---	---	---
SLC5A1	6523	broad.mit.edu	37	22	32487724	32487724	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr22:32487724G>T	ENST00000266088.4	+	11	1505	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.E292*	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	419					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.E419*(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GAGAGCATCTGAGAAAGAGCT	0.532																																						uc003amc.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1	GRCh37	CD962160	SLC5A1	D		c.(1255-1257)GAG>TAG		solute carrier family 5 (sodium/glucose							113.0	94.0	101.0					22																	32487724		2203	4300	6503	SO:0001587	stop_gained	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32487724G>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1255G>T	22.37:g.32487724G>T	ENSP00000266088:p.Glu419*					SLC5A1_uc011alz.1_Nonsense_Mutation_p.E292*	p.E419*	NM_000343	NP_000334	P13866	SC5A1_HUMAN			11	1487	+			419			Cytoplasmic (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Nonsense_Mutation	SNP	ENST00000266088.4	37	c.1255G>T	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	G	38	7.152680	0.98099	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.3618	0.94442	0.0:0.0:1.0:0.0	.	.	.	.	X	419;292	.	ENSP00000266088:E419X	E	+	1	0	SLC5A1	30817724	1.000000	0.71417	0.968000	0.41197	0.293000	0.27360	9.640000	0.98453	2.820000	0.97059	0.650000	0.86243	GAG		PASS	0.532	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		33	28	33	28	---	---	---	---
UPK3A	7380	broad.mit.edu	37	22	45689169	45689169	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr22:45689169G>T	ENST00000216211.4	+	5	711	c.679G>T	c.(679-681)Gct>Tct	p.A227S	UPK3A_ENST00000396082.2_Missense_Mutation_p.A106S	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	227					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A227S(1)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGTGGGTTTTGCTGGCGCCAT	0.602																																						uc003bfy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)GCT>TCT		uroplakin 3A precursor							158.0	115.0	130.0					22																	45689169		2203	4300	6503	SO:0001583	missense	7380				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane		g.chr22:45689169G>T	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.679G>T	22.37:g.45689169G>T	ENSP00000216211:p.Ala227Ser					UPK3A_uc010gzy.2_Missense_Mutation_p.A106S	p.A227S	NM_006953	NP_008884	O75631	UPK3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	685	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	227			Helical; (Potential).		B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	37	c.679G>T	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247547	0.39697	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.82984	-0.13;-1.67	5.14	4.12	0.48240	.	0.292144	0.28927	N	0.013689	D	0.84946	0.5585	M	0.68317	2.08	0.26520	N	0.974447	P;P	0.50156	0.932;0.763	P;B	0.50659	0.647;0.242	T	0.78773	-0.2073	10	0.56958	D	0.05	-22.5829	11.5909	0.50945	0.0872:0.0:0.9128:0.0	.	106;227	O75631-2;O75631	.;UPK3A_HUMAN	S	227;106	ENSP00000216211:A227S;ENSP00000379391:A106S	ENSP00000216211:A227S	A	+	1	0	UPK3A	44067833	0.996000	0.38824	0.604000	0.28916	0.102000	0.19082	2.408000	0.44574	1.201000	0.43203	0.644000	0.83932	GCT		PASS	0.602	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		12	14	12	14	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46785336	46785336	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr22:46785336T>A	ENST00000262738.3	-	18	6405	c.6406A>T	c.(6406-6408)Agg>Tgg	p.R2136W		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2136					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.R2136W(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGCAGCGCCCTCACCAGCTGC	0.632																																						uc003bhw.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(6406-6408)AGG>TGG		cadherin EGF LAG seven-pass G-type receptor 1							42.0	39.0	40.0					22																	46785336		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46785336T>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6406A>T	22.37:g.46785336T>A	ENSP00000262738:p.Arg2136Trp					CELSR1_uc011arc.1_Missense_Mutation_p.R457W	p.R2136W	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	18	6406	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2136			Extracellular (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.6406A>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.969315	0.34754	.	.	ENSG00000075275	ENST00000262738	T	0.13196	2.61	4.99	-2.51	0.06365	Domain of unknown function DUF3497 (1);	0.294275	0.23712	U	0.045303	T	0.27419	0.0673	L	0.50333	1.59	0.09310	N	1	D;D	0.69078	0.997;0.993	D;D	0.70227	0.968;0.945	T	0.20739	-1.0266	10	0.72032	D	0.01	.	16.1343	0.81471	0.0:0.0:0.5574:0.4426	.	457;2136	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	W	2136	ENSP00000262738:R2136W	ENSP00000262738:R2136W	R	-	1	2	CELSR1	45164000	0.004000	0.15560	0.001000	0.08648	0.017000	0.09413	1.404000	0.34623	-0.306000	0.08818	-0.313000	0.08912	AGG		PASS	0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		4	15	4	15	---	---	---	---
TMEM27	57393	broad.mit.edu	37	X	15677138	15677138	+	Splice_Site	SNP	C	C	G			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:15677138C>G	ENST00000380342.3	-	3	459		c.e3+1			NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27						positive regulation of amino acid transport (GO:0051957)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of SNARE complex assembly (GO:0035543)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)	p.?(1)		endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					TATTTGCTTACTCTGTTGCTT	0.318																																						uc004cxc.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e3+1		transmembrane protein 27 precursor							92.0	77.0	82.0					X																	15677138		2203	4299	6502	SO:0001630	splice_region_variant	57393				proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity	g.chrX:15677138C>G	AF229179	CCDS14170.1	Xp22	2012-04-13			ENSG00000147003	ENSG00000147003			29437	protein-coding gene	gene with protein product	"""collectrin"""	300631				11278314	Standard	NM_020665		Approved	NX17	uc004cxc.2	Q9HBJ8	OTTHUMG00000021181	ENST00000380342.3:c.203+1G>C	X.37:g.15677138C>G							p.E68_splice	NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN			3	459	-	Hepatocellular(33;0.183)							B2R9M1|Q6UW07	Splice_Site	SNP	ENST00000380342.3	37	c.203_splice	CCDS14170.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262857	0.59431	.	.	ENSG00000147003	ENST00000380342	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0768	0.86588	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM27	15587059	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	4.729000	0.62008	2.413000	0.81919	0.600000	0.82982	.		PASS	0.318	TMEM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055879.1	NM_020665	Intron	6	8	6	8	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148516	34148516	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:34148516T>A	ENST00000346193.3	-	1	1931	c.1880A>T	c.(1879-1881)aAt>aTt	p.N627I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	627								p.N627I(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCAAACAGATTCCTGATGGA	0.443																																						uc004ddg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1879-1881)AAT>ATT		hypothetical protein LOC158724							90.0	83.0	85.0					X																	34148516		2117	4243	6360	SO:0001583	missense	158724							g.chrX:34148516T>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1880A>T	X.37:g.34148516T>A	ENSP00000345029:p.Asn627Ile						p.N627I	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1913	-			627					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1880A>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	t	10.41	1.343731	0.24339	.	.	ENSG00000185448	ENST00000346193	T	0.42131	0.98	1.16	-0.0879	0.13675	.	.	.	.	.	T	0.36524	0.0970	L	0.29908	0.895	0.09310	N	1	D	0.59767	0.986	P	0.53912	0.737	T	0.18967	-1.0320	9	0.62326	D	0.03	.	3.0398	0.06134	0.0:0.286:0.0:0.714	.	627	Q5JRC9	FA47A_HUMAN	I	627	ENSP00000345029:N627I	ENSP00000345029:N627I	N	-	2	0	FAM47A	34058437	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.850000	0.27737	-0.070000	0.12908	-0.402000	0.06365	AAT		PASS	0.443	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		26	36	26	36	---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34962426	34962426	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:34962426A>C	ENST00000329357.5	+	1	1514	c.1478A>C	c.(1477-1479)gAt>gCt	p.D493A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	493								p.D493A(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						AGAACAACCGATCAAGACCAA	0.458																																						uc004ddi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1477-1479)GAT>GCT		hypothetical protein LOC170062							118.0	109.0	112.0					X																	34962426		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962426A>C	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.1478A>C	X.37:g.34962426A>C	ENSP00000328307:p.Asp493Ala						p.D493A	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1496	+			493					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1478A>C	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.306266	0.00240	.	.	ENSG00000189132	ENST00000329357	T	0.40756	1.02	0.235	-0.47	0.12131	.	.	.	.	.	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.18461	-1.0336	8	0.56958	D	0.05	.	.	.	.	.	493	Q8NA70	FA47B_HUMAN	A	493	ENSP00000328307:D493A	ENSP00000328307:D493A	D	+	2	0	FAM47B	34872347	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.577000	0.02127	-3.182000	0.00222	-3.185000	0.00055	GAT		PASS	0.458	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		30	47	30	47	---	---	---	---
USP11	8237	broad.mit.edu	37	X	47102051	47102051	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:47102051C>T	ENST00000218348.3	+	12	1644	c.1644C>T	c.(1642-1644)caC>caT	p.H548H	USP11_ENST00000377107.2_Silent_p.H505H	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	548	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.H548H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TCTTCAGTCACCGCTTCTATA	0.552																																						uc004dhp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1642-1644)CAC>CAT		ubiquitin specific peptidase 11							134.0	101.0	112.0					X																	47102051		2203	4300	6503	SO:0001819	synonymous_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47102051C>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1644C>T	X.37:g.47102051C>T						USP11_uc004dhq.2_Silent_p.H275H	p.H548H	NM_004651	NP_004642	P51784	UBP11_HUMAN			12	1644	+			548					B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	c.1644C>T	CCDS14277.1																																																																																				PASS	0.552	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		22	0	22	0	---	---	---	---
VSIG4	11326	broad.mit.edu	37	X	65238772	65238772	+	IGR	SNP	G	G	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:65238772G>A	ENST00000374737.4	-	0	1834				MIR223_ENST00000385204.1_RNA	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G21S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTCCATGTGGTAGAGTGTC	0.537																																						hsa-mir-223|MI0000300																			1	Substitution - Missense(1)		lung(1)		0															54.0	42.0	46.0					X																	65238772		1568	3581	5149	SO:0001628	intergenic_variant	407008							g.chrX:65238772G>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727		X.37:g.65238772G>A						uc004dwg.1_RNA|uc011mox.1_RNA										+								Q6UXI4	RNA	SNP	ENST00000374737.4	37	c.61G>A	CCDS14383.1																																																																																				PASS	0.537	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		5	6	5	6	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67938340	67938340	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:67938340C>T	ENST00000252336.6	+	5	1716	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	STARD8_ENST00000374597.3_Silent_p.S448S|STARD8_ENST00000374599.3_Silent_p.S528S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	448					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.S448S(2)|p.S528S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TGGCCTCCTCCAGCGAACTTG	0.592																																						uc004dxa.2																			3	Substitution - coding silent(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(1342-1344)TCC>TCT		StAR-related lipid transfer (START) domain							52.0	41.0	44.0					X																	67938340		2203	4300	6503	SO:0001819	synonymous_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67938340C>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1344C>T	X.37:g.67938340C>T						STARD8_uc004dxb.2_Silent_p.S528S|STARD8_uc004dxc.3_Silent_p.S448S	p.S448S	NM_014725	NP_055540	Q92502	STAR8_HUMAN			5	1716	+			448					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	c.1344C>T	CCDS14390.1																																																																																				PASS	0.592	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		7	8	7	8	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99551290	99551290	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:99551290C>T	ENST00000373034.4	-	6	5107	c.3432G>A	c.(3430-3432)aaG>aaA	p.K1144K	PCDH19_ENST00000420881.2_Silent_p.K1096K|PCDH19_ENST00000255531.7_Silent_p.K1097K|PCDH19_ENST00000464981.1_5'UTR	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1144					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K597K(1)|p.K1144K(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAACGATATCCTTCAGACGCT	0.493																																						uc010nmz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(3430-3432)AAG>AAA		protocadherin 19 isoform b							118.0	108.0	112.0					X																	99551290		1972	4129	6101	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99551290C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3432G>A	X.37:g.99551290C>T						PCDH19_uc004efw.3_Silent_p.K1096K|PCDH19_uc004efx.3_Silent_p.K1097K	p.K1144K	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			6	5108	-			1144			Cytoplasmic (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.3432G>A	CCDS55462.1																																																																																				PASS	0.493	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		48	2	48	2	---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105855370	105855370	+	Silent	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:105855370G>T	ENST00000372548.4	+	1	169	c.60G>T	c.(58-60)ccG>ccT	p.P20P	CXorf57_ENST00000372544.2_Silent_p.P20P	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	20							poly(A) RNA binding (GO:0044822)	p.P20P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TAGATTGGCCGAACCCTGAGA	0.572																																						uc004emi.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(58-60)CCG>CCT		hypothetical protein LOC55086							68.0	70.0	69.0					X																	105855370		2203	4300	6503	SO:0001819	synonymous_variant	55086							g.chrX:105855370G>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.60G>T	X.37:g.105855370G>T						CXorf57_uc004emj.3_Silent_p.P20P|CXorf57_uc004emh.2_Silent_p.P20P	p.P20P	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			1	211	+			20					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	c.60G>T	CCDS14519.1																																																																																				PASS	0.572	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		27	3	27	3	---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106111678	106111678	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:106111678A>T	ENST00000357242.5	+	18	2958	c.2784A>T	c.(2782-2784)gaA>gaT	p.E928D	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.E922D	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	928							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.E928D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTCCAAGGAAGAATTACTTT	0.323																																						uc004emo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2782-2784)GAA>GAT		TBC1 domain family, member 8B (with GRAM domain)							81.0	73.0	75.0					X																	106111678		2202	4299	6501	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106111678A>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2784A>T	X.37:g.106111678A>T	ENSP00000349781:p.Glu928Asp					MORC4_uc004emp.3_Intron	p.E928D	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			18	2949	+			928					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2784A>T	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.95|12.95	2.091048|2.091048	0.36855|0.36855	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972|ENST00000431860	T;T|.	0.31510|.	1.49;1.49|.	5.88|5.88	1.64|1.64	0.23874|0.23874	EF-hand-like domain (1);|.	0.634340|.	0.15762|.	N|.	0.245878|.	T|.	0.58581|.	0.2132|.	M|M	0.64404|0.64404	1.975|1.975	0.38181|0.38181	D|D	0.939624|0.939624	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.55915|.	-0.8065|.	10|.	0.27082|.	T|.	0.32|.	-3.4014|-3.4014	6.3049|6.3049	0.21133|0.21133	0.658:0.0:0.0777:0.2643|0.658:0.0:0.0777:0.2643	.|.	928|.	Q0IIM8|.	TBC8B_HUMAN|.	D|X	928;922;190|191	ENSP00000349781:E928D;ENSP00000276175:E922D|.	ENSP00000276175:E922D|.	E|R	+|+	3|1	2|2	TBC1D8B|TBC1D8B	105998334|105998334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	2.132000|2.132000	0.42083|0.42083	0.308000|0.308000	0.22923|0.22923	0.486000|0.486000	0.48141|0.48141	GAA|AGA		PASS	0.323	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		4	1	4	1	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108684580	108684580	+	Splice_Site	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:108684580C>A	ENST00000218006.2	-	7	1992	c.1701G>T	c.(1699-1701)gaG>gaT	p.E567D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	567	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.E567D(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATATCTTACCTCATAAATCG	0.403																																						uc004eod.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(1699-1701)GAG>GAT		guanylate cyclase 2F precursor							148.0	150.0	149.0					X																	108684580		2203	4300	6503	SO:0001630	splice_region_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108684580C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1701+1G>T	X.37:g.108684580C>A						GUCY2F_uc011msq.1_RNA	p.E567D	NM_001522	NP_001513	P51841	GUC2F_HUMAN			7	1977	-			567			Protein kinase.|Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.1701G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264396	0.23136	.	.	ENSG00000101890	ENST00000218006	T	0.62232	0.04	3.74	1.95	0.26073	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055437	0.64402	D	0.000001	T	0.58680	0.2139	M	0.76328	2.33	0.53688	D	0.999975	B	0.25809	0.135	B	0.27500	0.08	T	0.51004	-0.8760	9	.	.	.	.	10.1192	0.42609	0.0:0.7951:0.0:0.2049	.	567	P51841	GUC2F_HUMAN	D	567	ENSP00000218006:E567D	.	E	-	3	2	GUCY2F	108571236	1.000000	0.71417	0.987000	0.45799	0.233000	0.25261	2.439000	0.44846	0.079000	0.16929	-1.195000	0.01675	GAG		PASS	0.403	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	Missense_Mutation	5	73	5	73	---	---	---	---
AGTR2	186	broad.mit.edu	37	X	115304403	115304403	+	Silent	SNP	C	C	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:115304403C>T	ENST00000371906.4	+	3	1060	c.870C>T	c.(868-870)tgC>tgT	p.C290C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	290					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.C290C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TTAATAGCTGCGAAGTTATAG	0.483																																						uc004eqh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(868-870)TGC>TGT		angiotensin II receptor, type 2							263.0	202.0	223.0					X																	115304403		2203	4300	6503	SO:0001819	synonymous_variant	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304403C>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.870C>T	X.37:g.115304403C>T							p.C290C	NM_000686	NP_000677	P50052	AGTR2_HUMAN			3	1077	+			290			Extracellular (Potential).		B2R9V1|Q13016|Q6FGY7	Silent	SNP	ENST00000371906.4	37	c.870C>T	CCDS14569.1																																																																																				PASS	0.483	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		38	50	38	50	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151092292	151092292	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:151092292G>T	ENST00000360243.2	+	3	423	c.156G>T	c.(154-156)gaG>gaT	p.E52D	MAGEA4_ENST00000276344.2_Missense_Mutation_p.E52D|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E52D|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E52D|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E52D|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E52D|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E52D	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	52								p.E52D(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCACCCTGGAGGAAGTGCCTG	0.617																																						uc004fez.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(154-156)GAG>GAT		melanoma antigen family A, 4							67.0	63.0	64.0					X																	151092292		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092292G>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.156G>T	X.37:g.151092292G>T	ENSP00000353379:p.Glu52Asp					MAGEA4_uc004ffa.2_Missense_Mutation_p.E52D|MAGEA4_uc004ffb.2_Missense_Mutation_p.E52D|MAGEA4_uc004ffc.2_Missense_Mutation_p.E52D|MAGEA4_uc004ffd.2_Missense_Mutation_p.E52D	p.E52D	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	312	+	Acute lymphoblastic leukemia(192;6.56e-05)		52					Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.156G>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500254	0.26861	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47	2.13	-1.05	0.10036	Melanoma associated antigen, MAGE, N-terminal (1);	1.808090	0.03307	N	0.189887	T	0.19525	0.0469	M	0.88241	2.94	0.09310	N	1	D	0.54207	0.965	P	0.54815	0.761	T	0.18967	-1.0320	10	0.56958	D	0.05	.	0.7241	0.00946	0.1679:0.2344:0.3575:0.2403	.	52	P43358	MAGA4_HUMAN	D	52	ENSP00000387777:E52D;ENSP00000276344:E52D;ENSP00000391904:E52D;ENSP00000377498:E52D;ENSP00000394149:E52D;ENSP00000359362:E52D;ENSP00000402624:E52D;ENSP00000377497:E52D;ENSP00000359365:E52D;ENSP00000394073:E52D;ENSP00000400900:E52D;ENSP00000402186:E52D;ENSP00000359360:E52D;ENSP00000353379:E52D;ENSP00000390096:E52D	ENSP00000276344:E52D	E	+	3	2	MAGEA4	150842948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.237000	0.08990	-0.434000	0.07275	-0.545000	0.04230	GAG		PASS	0.617	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		5	44	5	44	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151358288	151358288	+	Missense_Mutation	SNP	G	G	T	rs200052640		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:151358288G>T	ENST00000370314.4	-	9	1295	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.L353M|GABRA3_ENST00000497894.1_5'UTR	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	353					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L353M(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AATTCAATCAGTGCAGAAAAT	0.478																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1057-1059)CTG>ATG		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						85.0	82.0	83.0					X																	151358288		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151358288G>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1057C>A	X.37:g.151358288G>T	ENSP00000359337:p.Leu353Met						p.L353M	NM_000808	NP_000799	P34903	GBRA3_HUMAN			9	1297	-	Acute lymphoblastic leukemia(192;6.56e-05)		353			Helical; (Probable).		Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1057C>A	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752049	0.69533	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.85861	-2.04;-2.04;-2.04	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000001	D	0.91686	0.7372	M	0.70787	2.145	0.58432	D	0.99999	D	0.76494	0.999	D	0.87578	0.998	D	0.92540	0.6041	10	0.87932	D	0	.	15.8263	0.78709	0.0:0.0:1.0:0.0	.	353	P34903	GBRA3_HUMAN	M	353	ENSP00000359337:L353M;ENSP00000359334:L353M;ENSP00000443527:L353M	ENSP00000359334:L353M	L	-	1	2	GABRA3	151108944	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.493000	0.66899	2.335000	0.79485	0.597000	0.82753	CTG		PASS	0.478	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		19	27	19	27	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153581949	153581949	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chrX:153581949C>A	ENST00000369850.3	-	36	6069	c.5833G>T	c.(5833-5835)Ggc>Tgc	p.G1945C	FLNA_ENST00000369856.3_Intron|FLNA_ENST00000360319.4_Missense_Mutation_p.G1937C|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.G1905C|FLNA_ENST00000422373.1_Missense_Mutation_p.G1937C	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1945					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.G1945C(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGGGCTGCCTGGGACGTGC	0.607																																						uc004fkk.2																			1	Substitution - Missense(1)		lung(1)	breast(6)	6						c.(5833-5835)GGC>TGC		filamin A, alpha isoform 2							67.0	71.0	70.0					X																	153581949		2197	4291	6488	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581949C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5833G>T	X.37:g.153581949C>A	ENSP00000358866:p.Gly1945Cys					FLNA_uc004fki.2_Translation_Start_Site|FLNA_uc011mzn.1_Intron|FLNA_uc010nuu.1_Missense_Mutation_p.G1937C	p.G1945C	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			36	6082	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1945			Filamin 17.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.5833G>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574362	0.65878	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	5.69	4.83	0.62350	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98335	1.0535	10	0.87932	D	0	.	13.8223	0.63329	0.0:0.9247:0.0:0.0753	.	1937;1945	P21333-2;P21333	.;FLNA_HUMAN	C	1937;1918;1937;1945;1905	ENSP00000353467:G1937C;ENSP00000416926:G1937C;ENSP00000358866:G1945C;ENSP00000358863:G1905C	ENSP00000358863:G1905C	G	-	1	0	FLNA	153235143	1.000000	0.71417	0.991000	0.47740	0.735000	0.41995	7.779000	0.85648	1.177000	0.42855	0.436000	0.28706	GGC		PASS	0.607	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	34	5	34	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97356918	97356920	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr3:97356918_97356920delACA	ENST00000514100.1	+	11	1194_1196	c.952_954delACA	c.(952-954)acadel	p.T320del	EPHA6_ENST00000502694.1_In_Frame_Del_p.T320del|EPHA6_ENST00000389672.5_In_Frame_Del_p.T928del	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	834						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			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						AGCTGCTTATACAACAACTGTAA	0.365																																						uc010how.1																			0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2776-2778)ACAdel		EPH receptor A6 isoform a																																				SO:0001651	inframe_deletion	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97356918_97356920delACA	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.952_954delACA	3.37:g.97356921_97356923delACA	ENSP00000421711:p.Thr320del					EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_In_Frame_Del_p.T320del|EPHA6_uc003drr.3_In_Frame_Del_p.T320del|EPHA6_uc003drt.2_In_Frame_Del_p.T320del|EPHA6_uc010hox.1_RNA	p.T928del	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			14	2819_2821	+			833			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	In_Frame_Del	DEL	ENST00000514100.1	37	c.2776_2778delACA																																																																																						0.365	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		13	7	13	7	---	---	---	---
GLUD1	2746	broad.mit.edu	37	10	88820739	88820739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr10:88820739delC	ENST00000277865.4	-	7	1088	c.992delG	c.(991-993)ggtfs	p.G331fs	GLUD1_ENST00000465164.1_5'UTR|GLUD1_ENST00000537649.1_Frame_Shift_Del_p.G164fs|GLUD1_ENST00000544149.1_Frame_Shift_Del_p.G198fs	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	331					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ATCAGACTCACCAACAGCAAT	0.363																																						uc001keh.2																			0					0						c.(991-993)GGTfs		glutamate dehydrogenase 1 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						194.0	198.0	197.0					10																	88820739		2203	4297	6500	SO:0001589	frameshift_variant	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88820739delC	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.992delG	10.37:g.88820739delC	ENSP00000277865:p.Gly331fs					GLUD1_uc001keg.2_Frame_Shift_Del_p.G164fs|GLUD1_uc010qmp.1_Frame_Shift_Del_p.G198fs	p.G331fs	NM_005271	NP_005262	P00367	DHE3_HUMAN			7	1089	-			331					B3KV55|B4DGN5|Q5TBU3	Frame_Shift_Del	DEL	ENST00000277865.4	37	c.992delG	CCDS7382.1																																																																																					0.363	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		58	40	58	40	---	---	---	---
SRSF1	6426	broad.mit.edu	37	17	56082957	56082958	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr17:56082957_56082958delTC	ENST00000258962.4	-	4	764_765	c.556_557delGA	c.(556-558)gaafs	p.E186fs	SRSF1_ENST00000584773.1_Frame_Shift_Del_p.E186fs|SRSF1_ENST00000581497.1_5'Flank|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_3'UTR|SRSF1_ENST00000585096.1_Intron	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	186	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTAGGCAGTTTCTCCCTATTGG	0.431																																						uc002ivi.2																			0					0						c.(556-558)GAAfs		splicing factor, arginine/serine-rich 1 isoform																																				SO:0001589	frameshift_variant	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56082957_56082958delTC		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.556_557delGA	17.37:g.56082959_56082960delTC	ENSP00000258962:p.Glu186fs					SFRS1_uc002ivj.2_3'UTR	p.E186fs	NM_006924	NP_008855	Q07955	SRSF1_HUMAN		LUAD - Lung adenocarcinoma(1115;0.247)	4	765_766	-		Colorectal(1115;0.0691)	186	Missing: In MR-E; loss of ability to activate splicing.|Missing: In MR-B; strongly inhibits splicing.		RRM 2.		B2R6Z7|D3DTZ3|Q13809	Frame_Shift_Del	DEL	ENST00000258962.4	37	c.556_557delGA	CCDS11600.1																																																																																					0.431	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		39	29	39	29	---	---	---	---
LINC00669	647946	broad.mit.edu	37	18	36788075	36788075	+	lincRNA	DEL	A	A	-			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr18:36788075delA	ENST00000591629.1	-	0	1118					NR_024391.1				long intergenic non-protein coding RNA 669																		AAGTTGCCTTAAAAAAAAAAG	0.343																																						uc002lak.1																			0					0								Homo sapiens cDNA FLJ33284 fis, clone ASTRO2009458.																																						647946							g.chr18:36788075delA	AK090603, BG220862, DB038664		18q12.2-q12.3	2012-10-12				ENSG00000267374		"""Long non-coding RNAs"""	44332	non-coding RNA	RNA, long non-coding							Standard	NR_024391		Approved		uc002lak.1				18.37:g.36788075delA						LOC647946_uc010xcj.1_RNA|LOC647946_uc002lal.1_RNA								4		-									RNA	DEL	ENST00000591629.1	37	c.1155delT																																																																																						0.343	LINC00669-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441462.1	NR_024391		4	2	4	2	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1221314	1221314	+	Frame_Shift_Del	DEL	C	C	-	rs121913321|rs373021819		TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:1221314delC	ENST00000326873.7	+	6	2010	c.837delC	c.(835-837)ggcfs	p.G279fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.P281fs*6(2)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGACTGTGGCCCCCCGCTCT	0.607		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		25	Whole gene deletion(20)|Deletion - Frameshift(3)|Unknown(2)	p.0?(19)|p.P281fs*6(2)|p.?(2)|p.Y246fs*3(1)|p.G279F(1)	cervix(14)|lung(6)|large_intestine(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(835-837)GGCfs		serine/threonine protein kinase 11							37.0	41.0	40.0					19																	1221314		1939	4113	6052	SO:0001589	frameshift_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1221314delC	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.837delC	19.37:g.1221314delC	ENSP00000324856:p.Gly279fs	TSP Lung(3;<1E-08)					p.G279fs	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1952	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	279			Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Del	DEL	ENST00000326873.7	37	c.837delC	CCDS45896.1																																																																																					0.607	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		3	15	3	15	---	---	---	---
IL12RB1	3594	broad.mit.edu	37	19	18180373	18180373	+	Frame_Shift_Del	DEL	G	G	-	rs140254802	byFrequency	TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:18180373delG	ENST00000600835.2	-	11	1470	c.1172delC	c.(1171-1173)ccgfs	p.P391fs	IL12RB1_ENST00000593993.2_Frame_Shift_Del_p.P391fs			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	391	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGCCGGATCCGGGTCTTGCGG	0.637																																						uc002nhw.1																			0				pancreas(1)	1						c.(1171-1173)CCGfs		interleukin 12 receptor, beta 1 isoform 1							37.0	45.0	42.0					19																	18180373		2012	4148	6160	SO:0001589	frameshift_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18180373delG	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1172delC	19.37:g.18180373delG	ENSP00000470788:p.Pro391fs					IL12RB1_uc010xqb.1_Frame_Shift_Del_p.P391fs|IL12RB1_uc002nhx.1_Frame_Shift_Del_p.P431fs	p.P391fs	NM_005535	NP_005526	P42701	I12R1_HUMAN			10	1236	-			391			Extracellular (Potential).|Fibronectin type-III 4.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Frame_Shift_Del	DEL	ENST00000600835.2	37	c.1172delC	CCDS54232.1																																																																																					0.637	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			1	30	1	30	---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22575389	22575389	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2754-01A-01D-0983-08	TCGA-66-2754-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c34a64c8-3746-44f8-a7ee-77f502b6256c	de244b96-3214-45d1-bb11-a802818eafb4	g.chr19:22575389delC	ENST00000357774.5	-	4	769	c.648delG	c.(646-648)gggfs	p.G216fs		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				TATAGGCTTTCCCACATTCTT	0.373																																						uc002nqt.2																			0				ovary(1)|skin(1)	2						c.(646-648)GGGfs		zinc finger protein 98							8.0	8.0	8.0					19																	22575389		1806	4030	5836	SO:0001589	frameshift_variant	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575389delC		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.648delG	19.37:g.22575389delC	ENSP00000350418:p.Gly216fs						p.G216fs	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	770	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	216			C2H2-type 2.			Frame_Shift_Del	DEL	ENST00000357774.5	37	c.648delG	CCDS46031.1																																																																																					0.373	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		0	6	0	6	---	---	---	---
