#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
NADK	65220	broad.mit.edu	37	1	1696810	1696810	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:1696810C>A	ENST00000341426.5	-	2	257	c.36G>T	c.(34-36)aaG>aaT	p.K12N	NADK_ENST00000341991.3_Missense_Mutation_p.K12N|NADK_ENST00000492768.1_5'UTR|NADK_ENST00000378625.1_Missense_Mutation_p.K12N|NADK_ENST00000344463.4_Missense_Mutation_p.K12N	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	12					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.K12N(1)		NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GACTCAATTCCTTATTCATGG	0.468																																						uc009vkw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)AAG>AAT		NAD kinase							45.0	47.0	46.0					1																	1696810		2203	4300	6503	SO:0001583	missense	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1696810C>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.36G>T	1.37:g.1696810C>A	ENSP00000341679:p.Lys12Asn					NADK_uc001aic.2_Missense_Mutation_p.K12N|NADK_uc001aid.3_Missense_Mutation_p.K12N|NADK_uc001aie.2_Missense_Mutation_p.K12N|NADK_uc009vkx.1_Translation_Start_Site	p.K12N	NM_023018	NP_075394	O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	2	157	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	12					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.36G>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084037	0.36758	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463	T;T;T;T	0.58060	0.7;0.7;0.36;0.36	5.7	1.21	0.21127	.	0.491078	0.20958	N	0.082602	T	0.46927	0.1418	M	0.67953	2.075	0.39690	D	0.971036	P;B	0.44877	0.845;0.001	B;B	0.39379	0.298;0.001	T	0.49437	-0.8940	10	0.44086	T	0.13	-15.3754	10.136	0.42706	0.0:0.6247:0.0:0.3753	.	12;12	Q5QPS4;O95544	.;NADK_HUMAN	N	12	ENSP00000341679:K12N;ENSP00000344340:K12N;ENSP00000367890:K12N;ENSP00000340925:K12N	ENSP00000341679:K12N	K	-	3	2	NADK	1686670	0.307000	0.24500	0.163000	0.22734	0.072000	0.16883	0.290000	0.18975	0.352000	0.24053	0.462000	0.41574	AAG		PASS	0.468	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		11	47	11	47	---	---	---	---
PLCH2	9651	broad.mit.edu	37	1	2415982	2415982	+	Silent	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:2415982C>A	ENST00000419816.2	+	5	1015	c.741C>A	c.(739-741)ctC>ctA	p.L247L	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Silent_p.L247L|PLCH2_ENST00000449969.1_Silent_p.L220L|PLCH2_ENST00000378488.3_Silent_p.L247L			O75038	PLCH2_HUMAN	phospholipase C, eta 2	247					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.L247L(1)|p.L94L(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TCTACCTGCTCATGCTGACCT	0.607																																						uc001aji.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|ovary(1)|skin(1)	5						c.(739-741)CTC>CTA		phospholipase C, eta 2							48.0	55.0	53.0					1																	2415982		2049	4195	6244	SO:0001819	synonymous_variant	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2415982C>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.741C>A	1.37:g.2415982C>A						PLCH2_uc010nyz.1_Silent_p.L35L|PLCH2_uc009vle.1_Silent_p.L35L|PLCH2_uc001ajj.1_Silent_p.L35L|PLCH2_uc001ajk.1_Silent_p.L35L	p.L247L	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	5	1015	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	247					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Silent	SNP	ENST00000419816.2	37	c.741C>A																																																																																					PASS	0.607	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		6	34	6	34	---	---	---	---
PLCH2	9651	broad.mit.edu	37	1	2421253	2421253	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:2421253G>A	ENST00000419816.2	+	10	1736	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.D488N|RP3-395M20.2_ENST00000424657.1_RNA|PLCH2_ENST00000449969.1_Missense_Mutation_p.D461N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D488N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	488					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.D488N(1)|p.D335N(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGAGGTGTCTGATGAGGACAG	0.612																																						uc001aji.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(1)|skin(1)	5						c.(1462-1464)GAT>AAT		phospholipase C, eta 2							121.0	132.0	128.0					1																	2421253		2178	4287	6465	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2421253G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1462G>A	1.37:g.2421253G>A	ENSP00000389803:p.Asp488Asn					PLCH2_uc010nyz.1_Missense_Mutation_p.D276N|PLCH2_uc009vle.1_Missense_Mutation_p.D276N|PLCH2_uc001ajj.1_Missense_Mutation_p.D276N|PLCH2_uc001ajk.1_Missense_Mutation_p.D276N	p.D488N	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	10	1736	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	488					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.1462G>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.769317	0.90020	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.49720	0.77;0.77;0.77	4.84	4.84	0.62591	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.91635	0.971;0.971;0.999;0.954	T	0.76263	-0.3023	10	0.87932	D	0	.	17.311	0.87210	0.0:0.0:1.0:0.0	.	335;276;461;488	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	N	461;488;488;335;276	ENSP00000397289:D461N;ENSP00000367747:D488N;ENSP00000367749:D488N	ENSP00000278878:D276N	D	+	1	0	PLCH2	2411113	1.000000	0.71417	0.380000	0.26093	0.491000	0.33493	9.490000	0.97952	2.394000	0.81467	0.561000	0.74099	GAT		PASS	0.612	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		19	80	19	80	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7812544	7812544	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:7812544G>C	ENST00000303635.7	+	21	5116	c.4909G>C	c.(4909-4911)Gat>Cat	p.D1637H	CAMTA1_ENST00000476864.1_Missense_Mutation_p.D201H|CAMTA1_ENST00000439411.2_Missense_Mutation_p.D1623H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1637					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D1637H(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAAAAAGCAGGATCAAGCTGC	0.423			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(4909-4911)GAT>CAT		calmodulin-binding transcription activator 1							83.0	75.0	78.0					1																	7812544		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7812544G>C	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4909G>C	1.37:g.7812544G>C	ENSP00000306522:p.Asp1637His					CAMTA1_uc001aok.3_Missense_Mutation_p.D680H|CAMTA1_uc001aoj.2_Missense_Mutation_p.D600H|CAMTA1_uc009vmf.2_Missense_Mutation_p.D227H	p.D1637H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	21	5116	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1637					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4909G>C	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.755292|4.755292	0.89843|0.89843	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864|ENST00000495233;ENST00000490905	T;T;T|.	0.52295|.	2.0;1.96;0.67|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74527|0.74527	0.3728|0.3728	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.999;0.998|.	T|T	0.71873|0.71873	-0.4461|-0.4461	10|5	0.30854|.	T|.	0.27|.	-24.969|-24.969	19.6665|19.6665	0.95895|0.95895	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	680;600;1637|.	B4DXR3;Q7Z7P1;Q9Y6Y1|.	.;.;CMTA1_HUMAN|.	H|S	1637;1623;680;600;201|600;202	ENSP00000306522:D1637H;ENSP00000402561:D1623H;ENSP00000452319:D201H|.	ENSP00000306522:D1637H|.	D|R	+|+	1|3	0|2	CAMTA1|CAMTA1	7735131|7735131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.471000|9.471000	0.97696|0.97696	2.614000|2.614000	0.88457|0.88457	0.655000|0.655000	0.94253|0.94253	GAT|AGG		PASS	0.423	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		9	56	9	56	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12343540	12343540	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:12343540A>G	ENST00000358136.3	+	21	5511	c.5381A>G	c.(5380-5382)aAg>aGg	p.K1794R	VPS13D_ENST00000356315.4_Missense_Mutation_p.K1794R	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.K1794R(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGGTAGATAAGAAACATCCA	0.408																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(5380-5382)AAG>AGG		vacuolar protein sorting 13D isoform 1							111.0	102.0	105.0					1																	12343540		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12343540A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.5381A>G	1.37:g.12343540A>G	ENSP00000350854:p.Lys1794Arg					VPS13D_uc001atw.2_Missense_Mutation_p.K1794R|VPS13D_uc001atx.2_Missense_Mutation_p.K982R	p.K1794R	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	21	5522	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1794						Missense_Mutation	SNP	ENST00000358136.3	37	c.5381A>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.415|6.415	0.444763|0.444763	0.12164|0.12164	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.55588|.	0.51;0.52|.	5.71|5.71	4.59|4.59	0.56863|0.56863	.|.	0.210297|.	0.48286|.	N|.	0.000194|.	T|T	0.36580|0.36580	0.0972|0.0972	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.10450|.	0.005;0.002|.	T|T	0.13361|0.13361	-1.0512|-1.0512	10|5	0.21014|.	T|.	0.42|.	.|.	9.5159|9.5159	0.39104|0.39104	0.8471:0.0:0.1529:0.0|0.8471:0.0:0.1529:0.0	.|.	1794;1794|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	R|G	1794|617	ENSP00000348666:K1794R;ENSP00000350854:K1794R|.	ENSP00000348666:K1794R|.	K|R	+|+	2|1	0|2	VPS13D|VPS13D	12266127|12266127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.711000|2.711000	0.47177|0.47177	0.998000|0.998000	0.38996|0.38996	-0.375000|-0.375000	0.07067|0.07067	AAG|AGA		PASS	0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		28	132	28	132	---	---	---	---
CASP9	842	broad.mit.edu	37	1	15844829	15844829	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:15844829C>G	ENST00000333868.5	-	2	288	c.194G>C	c.(193-195)cGa>cCa	p.R65P	CASP9_ENST00000348549.5_Missense_Mutation_p.R65P|CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000546424.1_Missense_Mutation_p.R65P	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>CCA		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>G	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>C	1.37:g.15844829C>G	ENSP00000330237:p.Arg65Pro					CASP9_uc001awm.1_Missense_Mutation_p.R65P|CASP9_uc001awo.2_Missense_Mutation_p.R65P|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR	p.R65P	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>C	CCDS158.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646878	0.67358	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000440484	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	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	0.999;1.0;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;.	P	65	ENSP00000449584:R65P;ENSP00000330237:R65P;ENSP00000255256:R65P;ENSP00000411304:R65P	ENSP00000330237:R65P	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	115	4	115	---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17250858	17250858	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:17250858C>T	ENST00000375541.5	+	3	304	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.L79L(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGCTGTCGCTGCAGGAGGA	0.642																																						uc001azt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(235-237)CTG>TTG		ciliary rootlet coiled-coil							39.0	33.0	35.0					1																	17250858		2203	4300	6503	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17250858C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.235C>T	1.37:g.17250858C>T						CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	p.L79L	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	3	304	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	79			Potential.			Silent	SNP	ENST00000375541.5	37	c.235C>T	CCDS30616.1																																																																																				PASS	0.642	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		4	22	4	22	---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17279892	17279892	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:17279892G>C	ENST00000375541.5	+	21	3171	c.3102G>C	c.(3100-3102)gaG>gaC	p.E1034D	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.E1034D(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGGAGGCTGAGAAGGAAGAGC	0.667																																						uc001azt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(3100-3102)GAG>GAC		ciliary rootlet coiled-coil							18.0	20.0	19.0					1																	17279892		2201	4298	6499	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17279892G>C	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3102G>C	1.37:g.17279892G>C	ENSP00000364691:p.Glu1034Asp					CROCC_uc009voz.1_Missense_Mutation_p.E633D|CROCC_uc001azu.2_Missense_Mutation_p.E337D	p.E1034D	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	21	3171	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1034			Potential.			Missense_Mutation	SNP	ENST00000375541.5	37	c.3102G>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926751	0.52759	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.12984	2.63	3.6	3.6	0.41247	.	.	.	.	.	T	0.30230	0.0758	L	0.58810	1.83	0.42947	D	0.994361	P;D;D	0.76494	0.734;0.999;0.999	B;D;D	0.80764	0.301;0.994;0.994	T	0.02829	-1.1105	9	0.27785	T	0.31	.	13.5368	0.61652	0.0:0.0:1.0:0.0	.	897;337;1034	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	D	1034;915	ENSP00000364691:E1034D	ENSP00000364691:E1034D	E	+	3	2	CROCC	17152479	0.989000	0.36119	1.000000	0.80357	0.932000	0.56968	0.813000	0.27225	1.945000	0.56424	0.455000	0.32223	GAG		PASS	0.667	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		3	20	3	20	---	---	---	---
PADI1	29943	broad.mit.edu	37	1	17552530	17552530	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:17552530C>A	ENST00000375471.4	+	6	621	c.529C>A	c.(529-531)Ctg>Atg	p.L177M		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	177					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.L177M(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CTCTCCAGACCTGCAGGACAT	0.562																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)CTG>ATG		peptidylarginine deiminase type I	L-Citrulline(DB00155)						120.0	107.0	111.0					1																	17552530		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17552530C>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.529C>A	1.37:g.17552530C>A	ENSP00000364620:p.Leu177Met						p.L177M	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	6	621	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	177					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.529C>A	CCDS178.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595975	0.28445	.	.	ENSG00000142623	ENST00000375471	T	0.28895	1.59	4.92	4.0	0.46444	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.64402	D	0.000006	T	0.57873	0.2083	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61912	-0.6965	10	0.62326	D	0.03	-17.8429	15.1318	0.72530	0.0:0.9216:0.0:0.0784	.	177	Q9ULC6	PADI1_HUMAN	M	177	ENSP00000364620:L177M	ENSP00000364620:L177M	L	+	1	2	PADI1	17425117	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	2.559000	0.45888	0.493000	0.27837	-1.786000	0.00637	CTG		PASS	0.562	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		18	86	18	86	---	---	---	---
ACTL8	81569	broad.mit.edu	37	1	18152600	18152600	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:18152600G>C	ENST00000375406.1	+	3	903	c.687G>C	c.(685-687)caG>caC	p.Q229H		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	229					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q229Q(1)|p.Q229H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		AGAGGCAGCAGAGTGCCTTGG	0.607											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bat.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(4)	4						c.(685-687)CAG>CAC		actin-like 8							50.0	54.0	52.0					1																	18152600		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152600G>C	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.687G>C	1.37:g.18152600G>C	ENSP00000364555:p.Gln229His		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.Q229H	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	903	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	229					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.687G>C	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106561	0.37145	.	.	ENSG00000117148	ENST00000375406	D	0.94650	-3.48	4.88	-9.75	0.00506	.	0.510090	0.16577	N	0.208352	D	0.87951	0.6307	N	0.25332	0.735	0.09310	N	1	P	0.47191	0.891	P	0.45474	0.482	D	0.84723	0.0741	10	0.87932	D	0	-37.4781	11.7173	0.51661	0.0681:0.6807:0.1701:0.0811	.	229	Q9H568	ACTL8_HUMAN	H	229	ENSP00000364555:Q229H	ENSP00000364555:Q229H	Q	+	3	2	ACTL8	18025187	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.207000	0.09384	-2.014000	0.00948	-0.175000	0.13238	CAG		PASS	0.607	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		17	65	17	65	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22214545	22214545	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:22214545T>C	ENST00000374695.3	-	7	668	c.589A>G	c.(589-591)Aga>Gga	p.R197G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	197					angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R197G(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTGCAGGCTCTTGGGAACTGG	0.632																																						uc001bfj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(589-591)AGA>GGA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						61.0	55.0	57.0					1																	22214545		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22214545T>C	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.589A>G	1.37:g.22214545T>C	ENSP00000363827:p.Arg197Gly					HSPG2_uc009vqd.2_Missense_Mutation_p.R197G|HSPG2_uc009vqe.1_Silent_p.Q95Q	p.R197G	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	7	629	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	197					Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.589A>G	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223537	0.39300	.	.	ENSG00000142798	ENST00000374695	T	0.76186	-1.0	5.32	4.13	0.48395	.	0.000000	0.41712	D	0.000840	T	0.77585	0.4152	M	0.62154	1.92	0.09310	N	1	D	0.57571	0.98	P	0.53224	0.721	T	0.70956	-0.4731	10	0.87932	D	0	.	10.374	0.44071	0.0:0.0:0.2498:0.7502	.	197	P98160	PGBM_HUMAN	G	197	ENSP00000363827:R197G	ENSP00000363827:R197G	R	-	1	2	HSPG2	22087132	0.137000	0.22531	0.664000	0.29753	0.453000	0.32348	0.521000	0.22893	2.025000	0.59659	0.379000	0.24179	AGA		PASS	0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		8	47	8	47	---	---	---	---
CDC42	998	broad.mit.edu	37	1	22413036	22413036	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:22413036G>C	ENST00000344548.3	+	5	534	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.E95Q|CDC42_ENST00000421089.2_Missense_Mutation_p.E137Q|CDC42_ENST00000400259.1_Missense_Mutation_p.E95Q	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	95					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.E95Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		AAACGTGAAAGAAAAGGTAAG	0.373																																						uc001bfq.2																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(283-285)GAA>CAA		cell division cycle 42 isoform 1							69.0	70.0	69.0					1																	22413036		2203	4299	6502	SO:0001583	missense	998				actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22413036G>C	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"""GTP binding protein, 25kDa"""	116952	"""cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)"""			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.283G>C	1.37:g.22413036G>C	ENSP00000341072:p.Glu95Gln					CDC42_uc009vqg.1_Missense_Mutation_p.E95Q|CDC42_uc001bfp.2_Missense_Mutation_p.E95Q|CDC42_uc001bfr.2_Missense_Mutation_p.E95Q|CDC42_uc010odr.1_Missense_Mutation_p.E140Q|CDC42_uc010ods.1_Missense_Mutation_p.E137Q|CDC42_uc009vqh.2_Missense_Mutation_p.E54Q	p.E95Q	NM_001039802	NP_001034891	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	5	575	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	95					P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	ENST00000344548.3	37	c.283G>C	CCDS221.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.973251	0.74246	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000421089;ENST00000411827	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	L	0.58302	1.8	0.80722	D	1	P;P;P;B;B	0.49635	0.926;0.678;0.926;0.082;0.423	P;P;P;B;B	0.51833	0.566;0.681;0.566;0.129;0.245	T	0.76005	-0.3117	10	0.62326	D	0.03	.	18.1071	0.89524	0.0:0.0:1.0:0.0	.	137;140;137;95;95	E7ETU3;B4E1U9;B4DMH5;P60953;P60953-1	.;.;.;CDC42_HUMAN;.	Q	95;95;95;137;95	ENSP00000383118:E95Q;ENSP00000341072:E95Q;ENSP00000314458:E95Q;ENSP00000398592:E137Q;ENSP00000398327:E95Q	ENSP00000314458:E95Q	E	+	1	0	CDC42	22285623	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.576000	0.98192	2.677000	0.91161	0.650000	0.86243	GAA		PASS	0.373	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		25	99	25	99	---	---	---	---
NIPAL3	57185	broad.mit.edu	37	1	24795600	24795600	+	Silent	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:24795600C>A	ENST00000374399.4	+	12	1514	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V	NIPAL3_ENST00000003912.3_Silent_p.V300V	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	382						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.V382V(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCCTGCCAGTCATGCAAGAAG	0.507																																						uc001bjh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1144-1146)GTC>GTA		NIPA-like domain containing 3							74.0	74.0	74.0					1																	24795600		2203	4300	6503	SO:0001819	synonymous_variant	57185					integral to membrane		g.chr1:24795600C>A	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.1146C>A	1.37:g.24795600C>A						NIPAL3_uc009vrc.2_Silent_p.V300V	p.V382V	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN			12	1553	+			382					A2A298|Q6MZT9|Q9BVE6	Silent	SNP	ENST00000374399.4	37	c.1146C>A	CCDS30631.1																																																																																				PASS	0.507	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		17	77	17	77	---	---	---	---
MAN1C1	57134	broad.mit.edu	37	1	26085168	26085168	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:26085168G>A	ENST00000374332.4	+	6	1345	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000263979.3_Missense_Mutation_p.E159K|MAN1C1_ENST00000374329.1_Missense_Mutation_p.E110K	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	339					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.E339K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACACCTCACTGAACTCTCTGG	0.577																																						uc001bkm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1015-1017)GAA>AAA		mannosidase, alpha, class 1C, member 1							110.0	99.0	103.0					1																	26085168		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26085168G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1015G>A	1.37:g.26085168G>A	ENSP00000363452:p.Glu339Lys					MAN1C1_uc009vry.1_Missense_Mutation_p.E159K	p.E339K	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	6	1345	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	339			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.1015G>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679156	0.29783	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.71341	-0.56;-0.56;-0.56	4.71	1.46	0.22682	.	0.322034	0.34507	N	0.003901	T	0.41003	0.1140	N	0.04162	-0.26	0.32936	D	0.517713	B	0.09022	0.002	B	0.15870	0.014	T	0.40365	-0.9567	10	0.08179	T	0.78	.	9.2779	0.37711	0.0894:0.2965:0.6141:0.0	.	339	Q9NR34	MA1C1_HUMAN	K	339;159;159;110	ENSP00000363452:E339K;ENSP00000263979:E159K;ENSP00000363449:E110K	ENSP00000263979:E159K	E	+	1	0	MAN1C1	25957755	0.991000	0.36638	0.891000	0.34965	0.979000	0.70002	2.039000	0.41193	0.548000	0.28955	0.655000	0.94253	GAA		PASS	0.577	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		15	116	15	116	---	---	---	---
MAP3K6	9064	broad.mit.edu	37	1	27682180	27682180	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:27682180G>T	ENST00000493901.1	-	29	4007	c.3768C>A	c.(3766-3768)gaC>gaA	p.D1256E	MAP3K6_ENST00000374040.3_Missense_Mutation_p.D1248E|MAP3K6_ENST00000357582.2_Missense_Mutation_p.D1256E	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1256					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)	p.D1248E(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGTAGATGAGGTCATCTCGAG	0.532																																						uc001bny.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9						c.(3766-3768)GAC>GAA		mitogen-activated protein kinase kinase kinase							150.0	137.0	141.0					1																	27682180		2203	4300	6503	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27682180G>T	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3768C>A	1.37:g.27682180G>T	ENSP00000419591:p.Asp1256Glu					MAP3K6_uc009vsw.1_Missense_Mutation_p.D1248E	p.D1256E	NM_004672	NP_004663	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	28	4017	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1256					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.3768C>A	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286562	0.80803	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	D;D;D	0.91407	-2.84;-2.84;-2.84	5.26	4.34	0.51931	Sterile alpha motif/pointed domain (1);	.	.	.	.	D	0.93749	0.8002	M	0.65498	2.005	0.42626	D	0.993364	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	D	0.93608	0.6936	9	0.52906	T	0.07	.	11.5993	0.50993	0.0848:0.0:0.9152:0.0	.	1248;1256	O95382-3;O95382	.;M3K6_HUMAN	E	1248;1256;1256	ENSP00000363152:D1248E;ENSP00000419591:D1256E;ENSP00000350195:D1256E	ENSP00000350195:D1256E	D	-	3	2	MAP3K6	27554767	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.525000	0.45598	1.420000	0.47138	0.655000	0.94253	GAC		PASS	0.532	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		14	118	14	118	---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29638003	29638003	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:29638003A>G	ENST00000345512.3	+	21	3052	c.2923A>G	c.(2923-2925)Atg>Gtg	p.M975V	PTPRU_ENST00000356870.3_Missense_Mutation_p.M971V|PTPRU_ENST00000460170.2_Missense_Mutation_p.M971V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.M971V|PTPRU_ENST00000373779.3_Missense_Mutation_p.M965V|PTPRU_ENST00000428026.2_Missense_Mutation_p.M965V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	975	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.M971V(2)|p.M975V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTTCTGGCGTATGGTGTGGCA	0.627																																						uc001bru.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(2923-2925)ATG>GTG		protein tyrosine phosphatase, receptor type, U							123.0	102.0	109.0					1																	29638003		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29638003A>G	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2923A>G	1.37:g.29638003A>G	ENSP00000334941:p.Met975Val					PTPRU_uc001brv.2_Missense_Mutation_p.M971V|PTPRU_uc001brw.2_Missense_Mutation_p.M965V|PTPRU_uc009vtq.2_Missense_Mutation_p.M971V|PTPRU_uc009vtr.2_Missense_Mutation_p.M965V	p.M975V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	21	3033	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	975			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2923A>G	CCDS334.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815999	0.50527	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	4.76	2.29	0.28610	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.046719	0.85682	D	0.000000	D	0.90041	0.6890	H	0.97131	3.945	0.58432	D	0.999999	P;P;P;P;P	0.46706	0.858;0.858;0.858;0.883;0.883	B;B;B;B;B	0.41466	0.244;0.244;0.244;0.358;0.358	D	0.88297	0.2947	9	.	.	.	.	7.35	0.26684	0.7066:0.15:0.0:0.1434	.	965;971;965;971;975	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	975;965;971;971;965;971	ENSP00000334941:M975V;ENSP00000362884:M965V;ENSP00000349333:M971V;ENSP00000314987:M971V;ENSP00000392332:M965V;ENSP00000432906:M971V	.	M	+	1	0	PTPRU	29510590	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.270000	0.78493	0.348000	0.23949	0.533000	0.62120	ATG		PASS	0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			11	33	11	33	---	---	---	---
GJB3	2707	broad.mit.edu	37	1	35250801	35250801	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:35250801C>G	ENST00000373366.2	+	2	1053	c.438C>G	c.(436-438)ctC>ctG	p.L146L	GJB3_ENST00000373362.3_Silent_p.L146L|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	146					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.L146L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCCTCTTCCTCTACCTGCTGC	0.582																																						uc001bxx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(436-438)CTC>CTG		connexin 31							214.0	226.0	222.0					1																	35250801		2203	4300	6503	SO:0001819	synonymous_variant	2707				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35250801C>G	BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.438C>G	1.37:g.35250801C>G						GJB3_uc001bxy.2_Silent_p.L146L|GJB3_uc001bxz.3_Silent_p.L146L|uc010ohs.1_Intron	p.L146L	NM_024009	NP_076872	O75712	CXB3_HUMAN			2	1053	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	146			Helical; (Potential).		B2R790|Q2TAZ8	Silent	SNP	ENST00000373366.2	37	c.438C>G	CCDS384.1																																																																																				PASS	0.582	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		32	99	32	99	---	---	---	---
NCDN	23154	broad.mit.edu	37	1	36026776	36026776	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:36026776G>C	ENST00000373243.2	+	3	1407	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	NCDN_ENST00000356090.4_Missense_Mutation_p.E342Q|NCDN_ENST00000373253.3_Missense_Mutation_p.E325Q	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	342					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.E325Q(1)|p.E342Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGCCCTCATGGAGTTGGGGAT	0.602																																						uc001bza.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|pancreas(1)	3						c.(1024-1026)GAG>CAG		neurochondrin isoform 1							41.0	35.0	37.0					1																	36026776		2202	4300	6502	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36026776G>C	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1024G>C	1.37:g.36026776G>C	ENSP00000362340:p.Glu342Gln					NCDN_uc001bzb.2_Missense_Mutation_p.E342Q|NCDN_uc001bzc.2_Missense_Mutation_p.E325Q	p.E342Q	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN			4	1151	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	342					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.1024G>C	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005894	0.74932	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	T;T;T	0.68624	-0.34;-0.34;-0.34	4.94	4.94	0.65067	.	0.099100	0.64402	D	0.000002	T	0.80188	0.4577	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81933	-0.0706	10	0.72032	D	0.01	.	17.3334	0.87272	0.0:0.0:1.0:0.0	.	342	Q9UBB6	NCDN_HUMAN	Q	325;342;342	ENSP00000362350:E325Q;ENSP00000348394:E342Q;ENSP00000362340:E342Q	ENSP00000348394:E342Q	E	+	1	0	NCDN	35799363	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.276000	0.89894	2.575000	0.86900	0.561000	0.74099	GAG		PASS	0.602	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		5	10	5	10	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935300	36935300	+	Missense_Mutation	SNP	G	G	A	rs374610386		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:36935300G>A	ENST00000373106.1	-	11	1974	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	CSF3R_ENST00000331941.5_Missense_Mutation_p.T476I|CSF3R_ENST00000440588.2_Missense_Mutation_p.T476I|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.T476I|CSF3R_ENST00000373103.1_Missense_Mutation_p.T476I|CSF3R_ENST00000373104.1_Missense_Mutation_p.T476I|CSF3R_ENST00000418048.2_Missense_Mutation_p.T476I|CSF3R_ENST00000338937.5_Missense_Mutation_p.T476I	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	476	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.T476I(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CATCCTCCAGGTCTTGTTGCT	0.627																																						uc001caw.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1426-1428)ACC>ATC		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						100.0	101.0	101.0					1																	36935300		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36935300G>A	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1427C>T	1.37:g.36935300G>A	ENSP00000362198:p.Thr476Ile					CSF3R_uc001cat.1_Missense_Mutation_p.T39I|CSF3R_uc009vvc.1_Missense_Mutation_p.T39I|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.T476I|CSF3R_uc001cax.1_Missense_Mutation_p.T476I|CSF3R_uc001cay.1_Missense_Mutation_p.T476I	p.T476I	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			11	1605	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	476			Extracellular (Potential).|Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000373106.1	37	c.1427C>T	CCDS413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.48|11.48	1.650211|1.650211	0.29336|0.29336	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000464465|ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	.|T;T;T;T;T;T;T;T	.|0.52057	.|0.81;0.68;0.71;0.81;0.68;0.81;1.52;0.71	5.48|5.48	-2.01|-2.01	0.07410|0.07410	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|1.112610	.|0.06660	.|N	.|0.764390	T|T	0.35307|0.35307	0.0927|0.0927	L|L	0.54323|0.54323	1.7|1.7	0.20196|0.20196	N|N	0.99993|0.99993	.|P;P;P;P;B;P	.|0.44734	.|0.651;0.842;0.763;0.651;0.134;0.698	.|B;B;B;B;B;B	.|0.39531	.|0.153;0.302;0.293;0.153;0.108;0.175	T|T	0.30736|0.30736	-0.9968|-0.9968	5|10	.|0.20519	.|T	.|0.43	-10.0577|-10.0577	3.4156|3.4156	0.07375|0.07375	0.0854:0.3756:0.2586:0.2803|0.0854:0.3756:0.2586:0.2803	.|.	.|476;476;476;476;476;476	.|Q1ZYL6;E1B6W6;Q99062-3;Q99062;Q99062-4;Q99062-2	.|.;.;.;CSF3R_HUMAN;.;.	S|I	62|476	.|ENSP00000362198:T476I;ENSP00000362196:T476I;ENSP00000362195:T476I;ENSP00000355406:T476I;ENSP00000332180:T476I;ENSP00000401588:T476I;ENSP00000345013:T476I;ENSP00000397568:T476I	.|ENSP00000332180:T476I	P|T	-|-	1|2	0|0	CSF3R|CSF3R	36707887|36707887	0.156000|0.156000	0.22821|0.22821	0.306000|0.306000	0.25113|0.25113	0.421000|0.421000	0.31385|0.31385	0.155000|0.155000	0.16362|0.16362	-0.029000|-0.029000	0.13827|0.13827	0.655000|0.655000	0.94253|0.94253	CCT|ACC		PASS	0.627	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		27	181	27	181	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39903536	39903536	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:39903536G>C	ENST00000372915.3	+	70	17860	c.17773G>C	c.(17773-17775)Gac>Cac	p.D5925H	MACF1_ENST00000564288.1_Missense_Mutation_p.D6026H|MACF1_ENST00000317713.7_Missense_Mutation_p.D3967H|MACF1_ENST00000545844.1_Missense_Mutation_p.D3967H|MACF1_ENST00000361689.2_Missense_Mutation_p.D3967H|MACF1_ENST00000289893.4_Missense_Mutation_p.D4469H|MACF1_ENST00000567887.1_Missense_Mutation_p.D6063H|MACF1_ENST00000539005.1_Missense_Mutation_p.D3837H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5925					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.D3967H(1)|p.D4469H(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCTGAAGTAGACAAGATCAG	0.478																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(13405-13407)GAC>CAC		microfilament and actin filament cross-linker							176.0	161.0	166.0					1																	39903536		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39903536G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17773G>C	1.37:g.39903536G>C	ENSP00000362006:p.Asp5925His					MACF1_uc010ois.1_Missense_Mutation_p.D3967H	p.D4469H	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		36	13536	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.13405G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.821725|4.821725	0.90873|0.90873	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.53857|.	0.6;0.6;0.6;0.6;0.6;0.6|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.088906|.	0.48286|.	D|.	0.000184|.	T|T	0.70622|0.70622	0.3245|0.3245	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.99|.	D;D|.	0.74674|.	0.984;0.952|.	T|T	0.66448|0.66448	-0.5921|-0.5921	10|5	0.72032|.	D|.	0.01|.	.|.	19.497|19.497	0.95077|0.95077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5925;3967|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	H|T	3967;5925;3967;3967;3837;4469|2970	ENSP00000439537:D3967H;ENSP00000362006:D5925H;ENSP00000354573:D3967H;ENSP00000313438:D3967H;ENSP00000444364:D3837H;ENSP00000289893:D4469H|.	ENSP00000289893:D4469H|.	D|R	+|+	1|2	0|0	MACF1|MACF1	39676123|39676123	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.813000|9.813000	0.99286|0.99286	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	GAC|AGA		PASS	0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		53	455	53	455	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39914334	39914334	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:39914334G>A	ENST00000372915.3	+	83	19941	c.19854G>A	c.(19852-19854)ctG>ctA	p.L6618L	MACF1_ENST00000564288.1_Silent_p.L6719L|MACF1_ENST00000317713.7_Silent_p.L4660L|MACF1_ENST00000545844.1_Silent_p.L4660L|MACF1_ENST00000361689.2_Silent_p.L4660L|MACF1_ENST00000289893.4_Silent_p.L5162L|MACF1_ENST00000567887.1_Silent_p.L6756L|MACF1_ENST00000539005.1_Silent_p.L4530L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6618					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L5162L(1)|p.L4660L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGAGCACTGAAAGAAAAGA	0.418																																						uc010oiu.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(15484-15486)CTG>CTA		microfilament and actin filament cross-linker							81.0	83.0	82.0					1																	39914334		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39914334G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19854G>A	1.37:g.39914334G>A						MACF1_uc010ois.1_Silent_p.L4660L	p.L5162L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		49	15617	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6728			Spectrin 16.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.15486G>A		.	.	.	.	.	.	.	.	.	.	G	9.576	1.122419	0.20877	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.17	0.794	0.18638	.	.	.	.	.	T	0.43722	0.1260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	.	3.1761	0.06569	0.17:0.1027:0.5159:0.2114	.	.	.	.	K	3664	.	.	E	+	1	0	MACF1	39686921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.708000	0.25719	0.444000	0.26612	0.655000	0.94253	GAA		PASS	0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		20	278	20	278	---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40777372	40777372	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:40777372C>T	ENST00000372748.3	-	9	529	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	145	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.D145N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GATGGTCCATCTGGTCCAGGG	0.607																																						uc001cfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(433-435)GAT>AAT		alpha 2 type IX collagen precursor							43.0	54.0	50.0					1																	40777372		2196	4295	6491	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40777372C>T	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.433G>A	1.37:g.40777372C>T	ENSP00000361834:p.Asp145Asn					COL9A2_uc001cfi.1_5'UTR	p.D145N	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		9	503	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	145			Triple-helical region 4 (COL4).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.433G>A	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.55|12.55	1.970783|1.970783	0.34754|0.34754	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748;ENST00000372736|ENST00000417105	D;D|.	0.94457|.	-3.37;-3.43|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.528651|.	0.21623|.	N|.	0.071616|.	T|T	0.51568|0.51568	0.1682|0.1682	L|L	0.43646|0.43646	1.37|1.37	0.21064|0.21064	N|N	0.999795|0.999795	B|.	0.25048|.	0.117|.	B|.	0.27608|.	0.081|.	T|T	0.46707|0.46707	-0.9172|-0.9172	10|5	0.39692|.	T|.	0.17|.	.|.	15.8313|15.8313	0.78752|0.78752	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	145|.	Q14055|.	CO9A2_HUMAN|.	N|K	145;74|133	ENSP00000361834:D145N;ENSP00000361821:D74N|.	ENSP00000361821:D74N|.	D|R	-|-	1|2	0|0	COL9A2|COL9A2	40549959|40549959	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.471000|0.471000	0.32888|0.32888	3.742000|3.742000	0.55097|0.55097	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	GAT|AGA		PASS	0.607	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		29	294	29	294	---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44422280	44422280	+	Silent	SNP	C	C	A	rs143861524		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:44422280C>A	ENST00000372343.3	+	4	1673	c.1011C>A	c.(1009-1011)gtC>gtA	p.V337V	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	337					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V337V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGGCACTCGTCAACATGATTA	0.542																																						uc001ckx.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1009-1011)GTC>GTA		importin 13							146.0	134.0	138.0					1																	44422280		2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44422280C>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1011C>A	1.37:g.44422280C>A							p.V337V	NM_014652	NP_055467	O94829	IPO13_HUMAN			4	1806	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	337			HEAT 5.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.1011C>A	CCDS503.1																																																																																				PASS	0.542	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		33	241	33	241	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45484142	45484142	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:45484142C>T	ENST00000359600.5	-	14	3747	c.3542G>A	c.(3541-3543)cGa>cAa	p.R1181Q		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1181						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.R1181Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AAAGCGCTCTCGCACCAGCAG	0.542											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cnd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3541-3543)CGA>CAA		zinc finger, SWIM domain containing 5							88.0	87.0	87.0					1																	45484142		2021	4181	6202	SO:0001583	missense	57643						zinc ion binding	g.chr1:45484142C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3542G>A	1.37:g.45484142C>T	ENSP00000352614:p.Arg1181Gln		OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.R1181Q	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			14	3770	-	Acute lymphoblastic leukemia(166;0.155)		1181					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.3542G>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683760	0.88639	.	.	ENSG00000162415	ENST00000359600	T	0.49139	0.79	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.73509	-0.3960	10	0.66056	D	0.02	-9.4975	19.058	0.93074	0.0:1.0:0.0:0.0	.	1181	Q9P217	ZSWM5_HUMAN	Q	1181	ENSP00000352614:R1181Q	ENSP00000352614:R1181Q	R	-	2	0	ZSWIM5	45256729	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.666000	0.90696	0.561000	0.74099	CGA		PASS	0.542	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		7	286	7	286	---	---	---	---
NASP	4678	broad.mit.edu	37	1	46073007	46073007	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:46073007G>C	ENST00000350030.3	+	6	511	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.E78Q|NASP_ENST00000402363.3_Missense_Mutation_p.E144Q|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	142	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.E144Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGCAAGGGAAGAGTTGAGAGA	0.368																																						uc001coi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(424-426)GAG>CAG		nuclear autoantigenic sperm protein isoform 2							55.0	53.0	54.0					1																	46073007		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46073007G>C	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.424G>C	1.37:g.46073007G>C	ENSP00000255120:p.Glu142Gln					NASP_uc010olq.1_Missense_Mutation_p.E105Q|NASP_uc001coh.1_Missense_Mutation_p.E144Q|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.E78Q|NASP_uc001cok.1_Missense_Mutation_p.E25Q	p.E142Q	NM_002482	NP_002473	P49321	NASP_HUMAN			6	526	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		142			Potential.|Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.424G>C	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228890	0.58777	.	.	ENSG00000132780	ENST00000527470;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19	4.8	4.8	0.61643	.	0.104379	0.64402	D	0.000004	D	0.95506	0.8540	L	0.32530	0.975	0.31879	N	0.61872	D;D;D;D;P	0.57257	0.976;0.979;0.979;0.959;0.865	P;P;P;P;P	0.55749	0.741;0.556;0.783;0.556;0.521	D	0.95376	0.8469	10	0.87932	D	0	-12.1376	14.0856	0.64954	0.0:0.1505:0.8495:0.0	.	78;142;42;142;144	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	Q	78;78;144;42;142;105	ENSP00000437241:E78Q;ENSP00000438871:E78Q;ENSP00000384529:E144Q;ENSP00000255120:E142Q;ENSP00000436924:E105Q	ENSP00000345532:E42Q	E	+	1	0	NASP	45845594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.504000	0.60414	2.639000	0.89480	0.650000	0.86243	GAG		PASS	0.368	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		8	81	8	81	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46489559	46489559	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:46489559A>T	ENST00000361297.2	+	15	1970	c.1687A>T	c.(1687-1689)Ata>Tta	p.I563L	MAST2_ENST00000372009.2_Missense_Mutation_p.I493L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.I563L(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGAGCGTGACATACTGACTTT	0.532																																						uc001cov.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(1687-1689)ATA>TTA		microtubule associated serine/threonine kinase							110.0	103.0	105.0					1																	46489559		2203	4300	6503	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46489559A>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1687A>T	1.37:g.46489559A>T	ENSP00000354671:p.Ile563Leu					MAST2_uc001cow.2_Missense_Mutation_p.I563L|MAST2_uc001coy.1_Missense_Mutation_p.I237L|MAST2_uc001coz.1_Missense_Mutation_p.I448L|MAST2_uc009vya.2_Missense_Mutation_p.I485L|MAST2_uc001cpa.2_RNA	p.I563L	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			15	1970	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		563			Protein kinase.			Missense_Mutation	SNP	ENST00000361297.2	37	c.1687A>T	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	A	34	5.405228	0.96051	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.66280	-0.2;-0.2;-0.2	5.48	5.48	0.80851	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	T	0.69513	0.3119	N	0.25992	0.78	0.80722	D	1	D;P;P;D;D	0.71674	0.972;0.65;0.937;0.993;0.998	D;P;P;D;D	0.87578	0.921;0.743;0.836;0.987;0.998	T	0.73817	-0.3863	10	0.87932	D	0	-15.7423	15.8795	0.79193	1.0:0.0:0.0:0.0	.	237;493;237;493;563	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	L	563;493;237;448	ENSP00000354671:I563L;ENSP00000361079:I493L;ENSP00000361078:I448L	ENSP00000354671:I563L	I	+	1	0	MAST2	46262146	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.339000	0.96797	2.221000	0.72209	0.454000	0.30748	ATA		PASS	0.532	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		31	91	31	91	---	---	---	---
EPS15	2060	broad.mit.edu	37	1	51822469	51822469	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:51822469C>T	ENST00000371733.3	-	25	2690	c.2594G>A	c.(2593-2595)aGa>aAa	p.R865K	EPS15_ENST00000396122.4_Missense_Mutation_p.R542K|EPS15_ENST00000371730.2_Missense_Mutation_p.R731K	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	865					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)|p.R865K(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTCTTCCTCTCTCTCACTTTC	0.413			T	MLL	ALL																																	uc001csq.1				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		3	Whole gene deletion(2)|Substitution - Missense(1)		thyroid(1)|lung(1)|central_nervous_system(1)	lung(1)|kidney(1)	2						c.(2593-2595)AGA>AAA		epidermal growth factor receptor pathway							118.0	106.0	110.0					1																	51822469		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51822469C>T	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2594G>A	1.37:g.51822469C>T	ENSP00000360798:p.Arg865Lys					EPS15_uc009vyz.1_Missense_Mutation_p.R731K|EPS15_uc001csp.3_Missense_Mutation_p.R551K	p.R865K	NM_001981	NP_001972	P42566	EPS15_HUMAN			25	2686	-			865			UIM 1.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.2594G>A	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	2.459	-0.324662	0.05350	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.38887	1.11;1.11;1.11	5.88	4.03	0.46877	Ubiquitin interacting motif (2);	.	.	.	.	T	0.29389	0.0732	L	0.28458	0.855	0.43126	D	0.994851	B;B;B	0.25351	0.007;0.124;0.001	B;B;B	0.26517	0.004;0.07;0.009	T	0.05533	-1.0879	9	0.20519	T	0.43	.	10.2198	0.43190	0.0:0.797:0.0:0.203	.	731;865;551	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	K	731;865;542	ENSP00000360795:R731K;ENSP00000360798:R865K;ENSP00000379428:R542K	ENSP00000360795:R731K	R	-	2	0	EPS15	51595057	1.000000	0.71417	0.999000	0.59377	0.271000	0.26615	1.501000	0.35693	0.843000	0.35070	-0.216000	0.12614	AGA		PASS	0.413	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		22	156	22	156	---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53262027	53262027	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:53262027G>C	ENST00000294353.6	+	7	1543	c.1398G>C	c.(1396-1398)agG>agC	p.R466S	ZYG11B_ENST00000443756.2_Missense_Mutation_p.R466S|ZYG11B_ENST00000545132.1_Missense_Mutation_p.R466S	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	466								p.R466S(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ACATGCAAAGGATGGCAGTTG	0.418																																						uc001cuj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1396-1398)AGG>AGC		zyg-11 homolog B							89.0	83.0	85.0					1																	53262027		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53262027G>C	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1398G>C	1.37:g.53262027G>C	ENSP00000294353:p.Arg466Ser					ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.R457S|ZYG11B_uc009vzh.2_5'Flank	p.R466S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN			7	1593	+			466					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.1398G>C	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034429	0.35893	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.48522	0.81;0.92;0.81	5.19	2.27	0.28462	Armadillo-like helical (1);Armadillo-type fold (1);	0.094162	0.64402	D	0.000001	T	0.51058	0.1652	L	0.52206	1.635	0.51482	D	0.99992	D;B	0.67145	0.996;0.04	P;B	0.59948	0.866;0.029	T	0.46884	-0.9159	10	0.48119	T	0.1	.	4.8315	0.13443	0.3392:0.1562:0.5047:0.0	.	466;466	B4DK95;Q9C0D3	.;ZY11B_HUMAN	S	466	ENSP00000400522:R466S;ENSP00000441315:R466S;ENSP00000294353:R466S	ENSP00000294353:R466S	R	+	3	2	ZYG11B	53034615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.763000	0.26517	0.572000	0.29383	0.563000	0.77884	AGG		PASS	0.418	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		4	130	4	130	---	---	---	---
SLC1A7	6512	broad.mit.edu	37	1	53554633	53554633	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:53554633C>A	ENST00000371494.4	-	10	1507	c.1380G>T	c.(1378-1380)atG>atT	p.M460I	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	460					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.M460I(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GCACGTTAATCATGGTGCGGA	0.592																																					NSCLC(128;80 1811 21245 38490 51715)	uc001cuy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1378-1380)ATG>ATT		solute carrier family 1 (glutamate transporter),	L-Glutamic Acid(DB00142)						91.0	72.0	79.0					1																	53554633		2203	4300	6503	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53554633C>A	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1380G>T	1.37:g.53554633C>A	ENSP00000360549:p.Met460Ile					SLC1A7_uc001cux.2_Missense_Mutation_p.M113I	p.M460I	NM_006671	NP_006662	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	10	1548	-			460			Helical; (Potential).		Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.1380G>T	CCDS574.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396810	0.83120	.	.	ENSG00000162383	ENST00000371494	T	0.58940	0.3	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73760	0.3628	M	0.70903	2.155	0.80722	D	1	D;D	0.55800	0.958;0.973	D;P	0.64144	0.922;0.876	T	0.66380	-0.5938	10	0.21014	T	0.42	-7.9508	19.5674	0.95401	0.0:1.0:0.0:0.0	.	460;113	O00341;B3KSM4	EAA5_HUMAN;.	I	460	ENSP00000360549:M460I	ENSP00000360549:M460I	M	-	3	0	SLC1A7	53327221	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.847000	0.62867	2.873000	0.98535	0.561000	0.74099	ATG		PASS	0.592	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		7	99	7	99	---	---	---	---
TTC4	7268	broad.mit.edu	37	1	55194063	55194063	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:55194063G>C	ENST00000371281.3	+	6	726	c.639G>C	c.(637-639)aaG>aaC	p.K213N	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	213								p.K213N(1)		breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						TGAAAGAAAAGAAGGAGAGGA	0.418																																						uc001cxx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(637-639)AAG>AAC		tetratricopeptide repeat domain 4							117.0	118.0	118.0					1																	55194063		2203	4300	6503	SO:0001583	missense	7268						binding	g.chr1:55194063G>C		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.639G>C	1.37:g.55194063G>C	ENSP00000360329:p.Lys213Asn					C1orf175_uc001cxq.2_RNA|TTC4_uc001cxw.3_Missense_Mutation_p.K213N|TTC4_uc001cxv.2_Missense_Mutation_p.K224N	p.K213N	NM_004623	NP_004614	O95801	TTC4_HUMAN			6	692	+			213					Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	c.639G>C	CCDS596.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626003	0.66901	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.16073	2.37	4.33	4.33	0.51752	.	.	.	.	.	T	0.35740	0.0942	M	0.73962	2.25	0.50313	D	0.999866	D;D	0.65815	0.995;0.995	P;P	0.59546	0.859;0.859	T	0.03384	-1.1042	9	0.46703	T	0.11	-19.3565	12.652	0.56766	0.0:0.0:1.0:0.0	.	213;224	O95801;Q5TA95	TTC4_HUMAN;.	N	213;224	ENSP00000360329:K213N	ENSP00000360329:K213N	K	+	3	2	TTC4	54966651	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.032000	0.41127	2.705000	0.92388	0.655000	0.94253	AAG		PASS	0.418	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		15	53	15	53	---	---	---	---
TMEM61	199964	broad.mit.edu	37	1	55457683	55457683	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:55457683C>G	ENST00000371268.3	+	3	814	c.540C>G	c.(538-540)atC>atG	p.I180M	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	180						integral component of membrane (GO:0016021)		p.I180M(1)		endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						ATGAGAGCATCAGCCTTGCTC	0.622																																						uc001cyd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)ATC>ATG		transmembrane protein 61							108.0	102.0	104.0					1																	55457683		2203	4300	6503	SO:0001583	missense	199964					integral to membrane		g.chr1:55457683C>G	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.540C>G	1.37:g.55457683C>G	ENSP00000360315:p.Ile180Met						p.I180M	NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN			3	814	+			180						Missense_Mutation	SNP	ENST00000371268.3	37	c.540C>G	CCDS601.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985725	0.35036	.	.	ENSG00000143001	ENST00000371268	T	0.56941	0.43	3.64	-0.988	0.10245	.	1.142290	0.06656	N	0.763553	T	0.42291	0.1196	L	0.27053	0.805	0.09310	N	1	P	0.43701	0.815	P	0.45794	0.493	T	0.38415	-0.9662	10	0.72032	D	0.01	-5.624	4.7572	0.13090	0.0:0.527:0.1566:0.3165	.	180	Q8N0U2	TMM61_HUMAN	M	180	ENSP00000360315:I180M	ENSP00000360315:I180M	I	+	3	3	TMEM61	55230271	0.001000	0.12720	0.000000	0.03702	0.037000	0.13140	-0.334000	0.07883	-0.151000	0.11176	0.462000	0.41574	ATC		PASS	0.622	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		6	243	6	243	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57480785	57480785	+	Missense_Mutation	SNP	C	C	G	rs568914253		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:57480785C>G	ENST00000371231.1	-	13	1348	c.1314G>C	c.(1312-1314)aaG>aaC	p.K438N	DAB1_ENST00000371234.4_Missense_Mutation_p.K405N|DAB1_ENST00000414851.2_Missense_Mutation_p.K387N|DAB1_ENST00000439789.2_Missense_Mutation_p.K319N|DAB1_ENST00000420954.2_Missense_Mutation_p.K403N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.K405N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	438					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.K405N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCTGCCTGGGCTTGTCGGTCT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18194	0.001		0.0	False		,,,				2504	0.0					uc001cys.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1213-1215)AAG>AAC		disabled homolog 1							75.0	72.0	73.0					1																	57480785		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480785C>G	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1314G>C	1.37:g.57480785C>G	ENSP00000360275:p.Lys438Asn					DAB1_uc001cyt.1_Missense_Mutation_p.K403N|DAB1_uc001cyq.1_Missense_Mutation_p.K403N|DAB1_uc001cyr.1_Missense_Mutation_p.K319N|DAB1_uc009vzw.1_Missense_Mutation_p.K387N|DAB1_uc009vzx.1_Missense_Mutation_p.K405N	p.K405N	NM_021080	NP_066566	O75553	DAB1_HUMAN			14	1889	-			438					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1215G>C		.	.	.	.	.	.	.	.	.	.	C	13.08	2.130506	0.37630	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.52295	0.67;0.67;0.69;0.69;1.69;0.69	5.37	4.47	0.54385	.	0.587889	0.19976	N	0.101864	T	0.37156	0.0993	N	0.22421	0.69	0.30475	N	0.7729	B;B;B;B;B	0.28400	0.051;0.034;0.21;0.062;0.099	B;B;B;B;B	0.32533	0.029;0.027;0.147;0.035;0.075	T	0.47315	-0.9127	10	0.72032	D	0.01	-55.0122	12.2984	0.54860	0.0:0.9226:0.0:0.0774	.	387;438;405;319;403	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	N	405;405;405;403;387;319;438	ENSP00000360280:K405N;ENSP00000360278:K405N;ENSP00000395296:K403N;ENSP00000387581:K387N;ENSP00000409328:K319N;ENSP00000360275:K438N	ENSP00000360275:K438N	K	-	3	2	DAB1	57253373	0.998000	0.40836	0.996000	0.52242	0.992000	0.81027	1.086000	0.30853	1.517000	0.48917	0.650000	0.86243	AAG		PASS	0.602	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		22	157	22	157	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62739549	62739549	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:62739549C>G	ENST00000371153.4	-	3	1605	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	409						cytoplasm (GO:0005737)		p.Q409H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCACGTCCGTCTGGCCCTGAG	0.512																																						uc001dah.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(1225-1227)CAG>CAC		ankyrin repeat domain 38							190.0	160.0	170.0					1																	62739549		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739549C>G	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1227G>C	1.37:g.62739549C>G	ENSP00000360195:p.Gln409His					KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.Q409H	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	1604	-			409					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1227G>C	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300416	0.23650	.	.	ENSG00000132854	ENST00000371153	T	0.47177	0.85	5.37	0.602	0.17535	.	0.742820	0.11186	N	0.590439	T	0.38904	0.1058	L	0.47716	1.5	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.32851	-0.9891	10	0.45353	T	0.12	-1.3988	9.1696	0.37072	0.0:0.3411:0.5625:0.0964	.	409	Q5T7N3	KANK4_HUMAN	H	409	ENSP00000360195:Q409H	ENSP00000360195:Q409H	Q	-	3	2	KANK4	62512137	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.868000	0.04236	0.218000	0.20820	0.561000	0.74099	CAG		PASS	0.512	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		54	351	54	351	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	62960018	62960018	+	Silent	SNP	T	T	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:62960018T>G	ENST00000340370.5	-	39	5069	c.5052A>C	c.(5050-5052)gcA>gcC	p.A1684A	DOCK7_ENST00000251157.5_Silent_p.A1706A	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1715	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.A1684A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAACAAGTGCTGCTGAGTGGA	0.468																																						uc001daq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(5116-5118)GCA>GCC		dedicator of cytokinesis 7							109.0	84.0	93.0					1																	62960018		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62960018T>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5052A>C	1.37:g.62960018T>G						DOCK7_uc001dan.2_Silent_p.A1567A|DOCK7_uc001dao.2_Silent_p.A1567A|DOCK7_uc001dap.2_Silent_p.A1684A|DOCK7_uc001dam.2_Silent_p.A886A|DOCK7_uc010oov.1_Silent_p.A445A	p.A1706A	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			40	5152	-			1715			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.5118A>C	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	T	8.437	0.849881	0.17034	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.9	-2.72	0.05968	.	.	.	.	.	T	0.40119	0.1104	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37056	-0.9722	4	.	.	.	.	2.6153	0.04902	0.2835:0.0616:0.2385:0.4164	.	.	.	.	R	878	.	.	S	-	1	0	DOCK7	62732606	0.488000	0.25996	0.996000	0.52242	0.596000	0.36781	-0.330000	0.07925	0.064000	0.16427	0.482000	0.46254	AGC		PASS	0.468	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		55	87	55	87	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65130343	65130343	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:65130343G>C	ENST00000371073.2	+	15	2257	c.2257G>C	c.(2257-2259)Gat>Cat	p.D753H	CACHD1_ENST00000290039.5_Missense_Mutation_p.D702H|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	753					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.D702H(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAAAGCATTTGATCCCACTAG	0.453																																						uc001dbo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2104-2106)GAT>CAT		cache domain containing 1							143.0	131.0	135.0					1																	65130343		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65130343G>C	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2257G>C	1.37:g.65130343G>C	ENSP00000360113:p.Asp753His					CACHD1_uc001dbp.1_Missense_Mutation_p.D457H|CACHD1_uc001dbq.1_Missense_Mutation_p.D457H|CACHD1_uc010opa.1_5'Flank	p.D702H	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			15	2209	+			753			Extracellular (Potential).		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2104G>C		.	.	.	.	.	.	.	.	.	.	G	21.3	4.123741	0.77436	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.44881	0.91;0.92	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	H	0.95260	3.645	0.80722	D	1	B	0.24618	0.107	B	0.23150	0.044	T	0.59815	-0.7383	10	0.62326	D	0.03	-29.3453	20.5666	0.99351	0.0:0.0:1.0:0.0	.	753	Q5VU97	CAHD1_HUMAN	H	753;702	ENSP00000360113:D753H;ENSP00000290039:D702H	ENSP00000290039:D702H	D	+	1	0	CACHD1	64902931	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.854000	0.98071	0.655000	0.94253	GAT		PASS	0.453	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		38	282	38	282	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67109381	67109381	+	Silent	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:67109381C>A	ENST00000371037.4	+	7	515	c.438C>A	c.(436-438)atC>atA	p.I146I	SGIP1_ENST00000371039.1_Silent_p.I122I|SGIP1_ENST00000371036.3_Silent_p.I121I|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Silent_p.I150I|SGIP1_ENST00000371035.3_Silent_p.I103I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	146					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.I146I(1)|p.I122I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAGGCAACATCGCACTTTCCC	0.378																																						uc001dcr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(436-438)ATC>ATA		SH3-domain GRB2-like (endophilin) interacting							175.0	170.0	171.0					1																	67109381		2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67109381C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.438C>A	1.37:g.67109381C>A						SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_5'UTR|SGIP1_uc001dct.2_5'UTR	p.I146I	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			7	655	+			146					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.438C>A	CCDS30744.1																																																																																				PASS	0.378	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		40	381	40	381	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70482164	70482164	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:70482164T>C	ENST00000035383.5	+	12	1183	c.1153T>C	c.(1153-1155)Ttc>Ctc	p.F385L	LRRC7_ENST00000310961.5_Missense_Mutation_p.F390L|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	385						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.F385L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAATTTACCATTCTCATTTAC	0.289																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1153-1155)TTC>CTC		leucine rich repeat containing 7							107.0	111.0	110.0					1																	70482164		2202	4295	6497	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70482164T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1153T>C	1.37:g.70482164T>C	ENSP00000035383:p.Phe385Leu					LRRC7_uc009wbg.2_5'UTR	p.F385L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			12	1183	+			385			LRR 16.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1153T>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.702007	0.88924	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.15139	2.45;2.45	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	N	0.02011	-0.69	0.80722	D	1	P	0.50617	0.937	P	0.62089	0.898	T	0.48364	-0.9042	10	0.14656	T	0.56	.	14.941	0.70994	0.0:0.0:0.0:1.0	.	385	Q96NW7	LRRC7_HUMAN	L	390;385;208	ENSP00000309245:F390L;ENSP00000035383:F385L	ENSP00000035383:F385L	F	+	1	0	LRRC7	70254752	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.531000	0.60602	2.171000	0.68590	0.528000	0.53228	TTC		PASS	0.289	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		23	163	23	163	---	---	---	---
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834918	74834918	+	Missense_Mutation	SNP	G	G	T	rs200277259		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:74834918G>T	ENST00000370899.3	+	17	1782	c.1745G>T	c.(1744-1746)cGa>cTa	p.R582L	TNNI3K_ENST00000370891.2_Missense_Mutation_p.R582L|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R582L|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R481L|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R595L	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.R481L(1)									TATAAAGGACGATGCAGAAAT	0.313																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1441-1443)CGA>CTA		TNNI3 interacting kinase isoform b							39.0	43.0	41.0					1																	74834918		2198	4296	6494	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74834918G>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1745G>T	1.37:g.74834918G>T	ENSP00000359936:p.Arg582Leu					TNNI3K_uc001dgc.1_Missense_Mutation_p.R582L|TNNI3K_uc001dgd.2_Missense_Mutation_p.R582L|TNNI3K_uc001dge.1_Missense_Mutation_p.R582L	p.R481L	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			15	1493	+			481			Protein kinase.			Missense_Mutation	SNP	ENST00000370899.3	37	c.1442G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.389999|3.389999	0.61956|0.61956	.|.	.|.	ENSG00000116783|ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000526236;ENST00000525480|ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020	.|T;T;T;T;T;T	.|0.34472	.|1.36;1.36;1.36;1.36;1.36;1.36	5.51|5.51	4.6|4.6	0.57074|0.57074	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.123056	.|0.52532	.|D	.|0.000075	T|T	0.11922|0.11922	0.0290|0.0290	L|L	0.29908|0.29908	0.895|0.895	0.36722|0.36722	D|D	0.881242|0.881242	.|B;B;B;B	.|0.33073	.|0.068;0.396;0.247;0.369	.|B;B;B;B	.|0.35182	.|0.07;0.06;0.094;0.197	T|T	0.03545|0.03545	-1.1026|-1.1026	5|10	.|0.07644	.|T	.|0.81	.|.	14.0533|14.0533	0.64751|0.64751	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	.|481;582;582;582	.|Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	.|TNI3K_HUMAN;.;.;.	Y|L	28;1|582;582;582;582;481;5	.|ENSP00000359936:R582L;ENSP00000359932:R582L;ENSP00000450895:R582L;ENSP00000359928:R582L;ENSP00000322251:R481L;ENSP00000434975:R5L	.|ENSP00000322251:R481L	D|R	+|+	1|2	0|0	AC093158.1|RP11-653A5.2;AC093158.1	74607506|74607506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.445000|3.445000	0.52921|0.52921	1.326000|1.326000	0.45319|0.45319	0.650000|0.650000	0.86243|0.86243	GAT|CGA		PASS	0.313	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			7	132	7	132	---	---	---	---
TNNI3K	51086	broad.mit.edu	37	1	75005943	75005943	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:75005943C>A	ENST00000326637.3	+	24	2428	c.2377C>A	c.(2377-2379)Ctg>Atg	p.L793M	TNNI3K_ENST00000370891.2_Missense_Mutation_p.L894M|TNNI3K_ENST00000465473.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.L907M	NM_015978.2	NP_057062.1			TNNI3 interacting kinase									p.L793M(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CTCTCAAGGTCTGTCTTTGGA	0.348																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2377-2379)CTG>ATG		TNNI3 interacting kinase isoform b							98.0	97.0	98.0					1																	75005943		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:75005943C>A	AF116826	CCDS664.1, CCDS44161.1	1p31.1	2014-09-17				ENSG00000116783			19661	protein-coding gene	gene with protein product		613932				12721663	Standard	NM_015978		Approved	CARK		Q59H18	OTTHUMG00000171318	ENST00000326637.3:c.2377C>A	1.37:g.75005943C>A	ENSP00000322251:p.Leu793Met					TNNI3K_uc001dge.1_Missense_Mutation_p.L894M	p.L793M	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			24	2428	+			793						Missense_Mutation	SNP	ENST00000326637.3	37	c.2377C>A	CCDS664.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580201	0.28180	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.76578	-1.03;-1.03;-1.0	5.25	3.39	0.38822	.	0.159187	0.41938	D	0.000796	T	0.53318	0.1789	L	0.29908	0.895	0.29866	N	0.827235	B;P	0.39624	0.38;0.681	B;B	0.42593	0.146;0.392	T	0.50065	-0.8871	10	0.48119	T	0.1	.	9.3726	0.38264	0.0:0.8324:0.0:0.1676	.	793;894	Q59H18;Q59H18-1	TNI3K_HUMAN;.	M	894;894;793	ENSP00000450895:L894M;ENSP00000359928:L894M;ENSP00000322251:L793M	ENSP00000322251:L793M	L	+	1	2	RP11-653A5.2;AC093158.1	74778531	1.000000	0.71417	0.979000	0.43373	0.192000	0.23643	2.326000	0.43849	0.907000	0.36646	-0.140000	0.14226	CTG		PASS	0.348	TNNI3K-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026432.1	NM_015978		110	94	110	94	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75036851	75036851	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:75036851G>T	ENST00000326665.5	-	14	4761	c.4543C>A	c.(4543-4545)Caa>Aaa	p.Q1515K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1515								p.Q1515K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTTCTCCTTGCACCATATGC	0.502																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4543-4545)CAA>AAA		hypothetical protein LOC127254							191.0	186.0	187.0					1																	75036851		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75036851G>T																												ENST00000326665.5:c.4543C>A	1.37:g.75036851G>T	ENSP00000322609:p.Gln1515Lys						p.Q1515K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4762	-			1515					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4543C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980633	0.34942	.	.	ENSG00000178965	ENST00000326665	T	0.12879	2.64	4.97	2.93	0.34026	.	.	.	.	.	T	0.03136	0.0092	N	0.24115	0.695	0.09310	N	0.999994	P	0.46784	0.884	P	0.46076	0.503	T	0.26224	-1.0109	9	0.19147	T	0.46	-0.4405	3.205	0.06662	0.095:0.1772:0.5444:0.1834	.	1515	Q5RHP9	CA173_HUMAN	K	1515	ENSP00000322609:Q1515K	ENSP00000322609:Q1515K	Q	-	1	0	C1orf173	74809439	0.002000	0.14202	0.359000	0.25824	0.023000	0.10783	0.930000	0.28858	1.059000	0.40554	-0.314000	0.08810	CAA		PASS	0.502	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			311	278	311	278	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75097467	75097467	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:75097467G>T	ENST00000326665.5	-	7	967	c.749C>A	c.(748-750)tCt>tAt	p.S250Y	C1orf173_ENST00000420661.2_Missense_Mutation_p.S53Y	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		250								p.S250Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCATGTTTCAGATCTATTTTC	0.373																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(748-750)TCT>TAT		hypothetical protein LOC127254							189.0	171.0	177.0					1																	75097467		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75097467G>T																												ENST00000326665.5:c.749C>A	1.37:g.75097467G>T	ENSP00000322609:p.Ser250Tyr					C1orf173_uc001dgi.3_Missense_Mutation_p.S44Y	p.S250Y	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			7	968	-			250					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.749C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	3.060	-0.193452	0.06259	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19105	2.63;2.17	5.39	1.88	0.25563	.	.	.	.	.	T	0.07999	0.0200	L	0.29908	0.895	0.09310	N	1	P;D	0.54964	0.846;0.969	P;P	0.50970	0.568;0.655	T	0.13764	-1.0497	9	0.54805	T	0.06	0.1152	1.6943	0.02859	0.3545:0.1324:0.3782:0.1349	.	53;250	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	Y	250;53	ENSP00000322609:S250Y;ENSP00000398581:S53Y	ENSP00000322609:S250Y	S	-	2	0	C1orf173	74870055	0.000000	0.05858	0.026000	0.17262	0.021000	0.10359	-0.021000	0.12504	0.592000	0.29728	0.650000	0.86243	TCT		PASS	0.373	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			34	284	34	284	---	---	---	---
CRYZ	1429	broad.mit.edu	37	1	75185054	75185054	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:75185054T>A	ENST00000340866.5	-	4	354	c.267A>T	c.(265-267)aaA>aaT	p.K89N	CRYZ_ENST00000417775.1_Missense_Mutation_p.K89N|CRYZ_ENST00000370871.3_Missense_Mutation_p.K89N|CRYZ_ENST00000370872.3_Intron	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	89					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)	p.K89N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	CTCTGTCACCTTTCTAGGGGA	0.373																																						uc001dgk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)AAA>AAT		crystallin, zeta isoform a	Dicumarol(DB00266)						64.0	62.0	62.0					1																	75185054		2203	4300	6503	SO:0001583	missense	1429				protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding	g.chr1:75185054T>A		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.267A>T	1.37:g.75185054T>A	ENSP00000339399:p.Lys89Asn					CRYZ_uc001dgj.2_Missense_Mutation_p.K89N|CRYZ_uc001dgl.2_Missense_Mutation_p.K89N|CRYZ_uc001dgm.2_Intron	p.K89N	NM_001130042	NP_001123514	Q08257	QOR_HUMAN			5	772	-			89					A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Missense_Mutation	SNP	ENST00000340866.5	37	c.267A>T	CCDS665.1	.	.	.	.	.	.	.	.	.	.	T	7.701	0.693010	0.15039	.	.	ENSG00000116791	ENST00000340866;ENST00000417775;ENST00000370871;ENST00000370870;ENST00000441120	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.16	2.75	0.32379	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.249756	0.47093	D	0.000256	T	0.32164	0.0820	M	0.62723	1.935	0.42985	D	0.994472	P;P	0.48407	0.91;0.645	P;P	0.50860	0.652;0.565	T	0.06267	-1.0836	10	0.30854	T	0.27	.	9.8318	0.40946	0.0:0.1448:0.0:0.8552	.	89;89	A6NN60;Q08257	.;QOR_HUMAN	N	89	ENSP00000339399:K89N;ENSP00000399805:K89N;ENSP00000359908:K89N;ENSP00000359907:K89N;ENSP00000404289:K89N	ENSP00000339399:K89N	K	-	3	2	CRYZ	74957642	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	2.159000	0.42339	0.345000	0.23873	-0.579000	0.04138	AAA		PASS	0.373	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			12	95	12	95	---	---	---	---
LHX8	431707	broad.mit.edu	37	1	75602794	75602794	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:75602794G>A	ENST00000294638.5	+	4	779	c.115G>A	c.(115-117)Gag>Aag	p.E39K	LHX8_ENST00000356261.3_Missense_Mutation_p.E29K|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	39					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E39K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GGTGAGCCCCGAGGGAGCGGG	0.731																																						uc001dgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(115-117)GAG>AAG		LIM homeobox 8							23.0	27.0	26.0					1																	75602794		2202	4298	6500	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75602794G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.115G>A	1.37:g.75602794G>A	ENSP00000294638:p.Glu39Lys					LHX8_uc001dgq.2_5'UTR	p.E39K	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			4	779	+			39					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.115G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349123	0.61183	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86164	-2.08;-2.07	5.32	4.41	0.53225	.	0.435271	0.21649	N	0.071219	T	0.59348	0.2187	N	0.19112	0.55	0.28912	N	0.892678	B	0.24368	0.102	B	0.10450	0.005	T	0.42224	-0.9464	10	0.12766	T	0.61	.	12.0138	0.53303	0.1445:0.0:0.8555:0.0	.	39	Q68G74	LHX8_HUMAN	K	39;29	ENSP00000294638:E39K;ENSP00000348597:E29K	ENSP00000294638:E39K	E	+	1	0	LHX8	75375382	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.817000	0.48034	1.250000	0.43966	0.555000	0.69702	GAG		PASS	0.731	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		8	94	8	94	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77510165	77510165	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:77510165G>C	ENST00000477717.1	+	3	773	c.538G>C	c.(538-540)Gac>Cac	p.D180H		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	180					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.D180H(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CATGCGGCGGGACGGCAAGGG	0.602																																						uc001dhi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(538-540)GAC>CAC		sialyltransferase 7E							80.0	77.0	78.0					1																	77510165		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510165G>C		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.538G>C	1.37:g.77510165G>C	ENSP00000417583:p.Asp180His					ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	p.D180H	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN			3	713	+			180			Lumenal (Potential).		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.538G>C	CCDS673.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859142	0.91433	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.32988	1.43	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.51810	-0.8658	10	0.59425	D	0.04	-12.5457	19.307	0.94167	0.0:0.0:1.0:0.0	.	180	Q9BVH7	SIA7E_HUMAN	H	180;90	ENSP00000417583:D180H	ENSP00000436263:D180H	D	+	1	0	ST6GALNAC5	77282753	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	9.727000	0.98787	2.543000	0.85770	0.655000	0.94253	GAC		PASS	0.602	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		24	147	24	147	---	---	---	---
PRKACB	5567	broad.mit.edu	37	1	84700929	84700929	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:84700929G>A	ENST00000370689.2	+	10	1261	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	PRKACB_ENST00000394839.2_Missense_Mutation_p.E303K|PRKACB_ENST00000394838.2_Missense_Mutation_p.E340K|PRKACB_ENST00000370685.3_Missense_Mutation_p.E380K|PRKACB_ENST00000370682.3_Missense_Mutation_p.E337K	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	333	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)	p.E340K(1)|p.E333K(1)|p.E380K(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TGACTATGAAGAAGAAGATAT	0.368																																						uc001djj.2																			3	Substitution - Missense(3)		lung(3)	lung(2)|ovary(1)	3						c.(997-999)GAA>AAA		cAMP-dependent protein kinase catalytic subunit							80.0	82.0	82.0					1																	84700929		2203	4300	6503	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84700929G>A	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.997G>A	1.37:g.84700929G>A	ENSP00000359723:p.Glu333Lys					PRKACB_uc001djl.2_Missense_Mutation_p.E380K|PRKACB_uc010ort.1_Missense_Mutation_p.E340K|PRKACB_uc001djn.2_Missense_Mutation_p.E337K|PRKACB_uc010oru.1_Missense_Mutation_p.E321K|PRKACB_uc001djp.2_Missense_Mutation_p.E339K|PRKACB_uc001djq.2_Missense_Mutation_p.E303K|PRKACB_uc010orv.1_Missense_Mutation_p.E320K	p.E333K	NM_002731	NP_002722	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	10	1261	+			333			AGC-kinase C-terminal.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.997G>A	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.976162	0.97162	.	.	ENSG00000142875	ENST00000370689;ENST00000370685;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000394839;ENST00000370681	T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13	6.17	6.17	0.99709	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	M	0.79475	2.455	0.80722	D	1	P;P;B;P;P;B;P;P	0.50156	0.92;0.492;0.444;0.889;0.58;0.366;0.932;0.92	D;P;B;P;B;P;P;D	0.66196	0.942;0.469;0.253;0.721;0.437;0.614;0.682;0.942	T	0.00242	-1.1885	10	0.87932	D	0	-20.1145	20.8794	0.99867	0.0:0.0:1.0:0.0	.	333;321;340;303;339;337;380;333	B2RB89;P22694-3;B4DKB0;B1APG4;P22694-6;P22694-7;P22694-2;P22694	.;.;.;.;.;.;.;KAPCB_HUMAN	K	333;380;340;337;339;303;295	ENSP00000359723:E333K;ENSP00000359719:E380K;ENSP00000378314:E340K;ENSP00000359716:E337K;ENSP00000378315:E303K	ENSP00000359713:E339K	E	+	1	0	PRKACB	84473517	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.368	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		19	159	19	159	---	---	---	---
SYDE2	84144	broad.mit.edu	37	1	85624809	85624809	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:85624809G>C	ENST00000341460.5	-	7	3258	c.3209C>G	c.(3208-3210)tCa>tGa	p.S1070*		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1070					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.S1070*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AAGTACTCCTGATGAATCAGT	0.408																																						uc009wcm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3208-3210)TCA>TGA		synapse defective 1, Rho GTPase, homolog 2							138.0	134.0	135.0					1																	85624809		1863	4110	5973	SO:0001587	stop_gained	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85624809G>C	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3209C>G	1.37:g.85624809G>C	ENSP00000340594:p.Ser1070*						p.S1070*	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	7	3258	-			1070					Q5VT96|Q8NDB8|Q9H8A6	Nonsense_Mutation	SNP	ENST00000341460.5	37	c.3209C>G	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	G	39	7.722890	0.98453	.	.	ENSG00000097096	ENST00000341460	.	.	.	6.17	3.33	0.38152	.	0.365546	0.29040	N	0.013328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.4799	0.33036	0.1862:0.1112:0.7027:0.0	.	.	.	.	X	1070	.	ENSP00000340594:S1070X	S	-	2	0	SYDE2	85397397	0.998000	0.40836	0.699000	0.30290	0.983000	0.72400	2.761000	0.47589	0.491000	0.27793	0.655000	0.94253	TCA		PASS	0.408	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			10	331	10	331	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86374306	86374306	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:86374306C>T	ENST00000370571.2	-	27	3065	c.2699G>A	c.(2698-2700)gGa>gAa	p.G900E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G900E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	900	Collagen-like 7.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G900E(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACCGATAGGTCCTGGAACCCC	0.328																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2698-2700)GGA>GAA		collagen, type XXIV, alpha 1 precursor							15.0	14.0	15.0					1																	86374306		1793	4049	5842	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86374306C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2699G>A	1.37:g.86374306C>T	ENSP00000359603:p.Gly900Glu					COL24A1_uc001dli.2_Missense_Mutation_p.G36E|COL24A1_uc010osd.1_Missense_Mutation_p.G200E|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.G900E	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	27	2741	-			900			Collagen-like 7.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.2699G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659161	0.47467	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99353	-5.77;-5.77	4.85	4.85	0.62838	.	0.000000	0.33591	N	0.004746	D	0.99715	0.9890	H	0.99090	4.425	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97283	0.9919	10	0.87932	D	0	.	13.3444	0.60564	0.0:1.0:0.0:0.0	.	900;900	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	E	900	ENSP00000359603:G900E;ENSP00000392531:G900E	ENSP00000359603:G900E	G	-	2	0	COL24A1	86146894	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	3.995000	0.57001	2.510000	0.84645	0.591000	0.81541	GGA		PASS	0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		3	28	3	28	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86907182	86907182	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:86907182A>T	ENST00000370565.4	+	9	1606	c.1444A>T	c.(1444-1446)Aga>Tga	p.R482*		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	482	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.R482*(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGCTTTCAGTAGAATTTCCTC	0.378																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1444-1446)AGA>TGA		chloride channel accessory 2 precursor							89.0	86.0	87.0					1																	86907182		2203	4300	6503	SO:0001587	stop_gained	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86907182A>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1444A>T	1.37:g.86907182A>T	ENSP00000359596:p.Arg482*						p.R482*	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	9	1606	+		Lung NSC(277;0.238)	482			VWFA.|Extracellular (Potential).		A8K2T3|Q9Y6N2	Nonsense_Mutation	SNP	ENST00000370565.4	37	c.1444A>T	CCDS708.1	.	.	.	.	.	.	.	.	.	.	A	39	7.415147	0.98269	.	.	ENSG00000137975	ENST00000370565	.	.	.	4.85	-0.0161	0.13974	.	0.416980	0.25319	N	0.031526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-10.7034	4.7289	0.12955	0.5215:0.162:0.3165:0.0	.	.	.	.	X	482	.	ENSP00000359596:R482X	R	+	1	2	CLCA2	86679770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.906000	0.28517	0.219000	0.20840	0.533000	0.62120	AGA		PASS	0.378	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		7	92	7	92	---	---	---	---
GBP4	115361	broad.mit.edu	37	1	89652147	89652147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:89652147C>A	ENST00000355754.6	-	10	1673	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	526						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E526K(1)|p.E526*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TGCTGCTGCTCCTTCTGTTTT	0.478																																						uc001dnb.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.(1576-1578)GAG>TAG		guanylate binding protein 4							135.0	103.0	114.0					1																	89652147		2203	4300	6503	SO:0001587	stop_gained	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89652147C>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1576G>T	1.37:g.89652147C>A	ENSP00000359490:p.Glu526*						p.E526*	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	10	1692	-			526			Potential.		B2R630|Q05D63|Q6NSL0|Q86T99	Nonsense_Mutation	SNP	ENST00000355754.6	37	c.1576G>T	CCDS721.1	.	.	.	.	.	.	.	.	.	.	C	37	6.286962	0.97444	.	.	ENSG00000162654	ENST00000355754	.	.	.	4.3	4.3	0.51218	.	0.394676	0.26307	N	0.025135	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	14.6316	0.68660	0.0:1.0:0.0:0.0	.	.	.	.	X	526	.	ENSP00000359490:E526X	E	-	1	0	GBP4	89424735	0.000000	0.05858	0.042000	0.18584	0.030000	0.12068	0.529000	0.23019	2.367000	0.80283	0.491000	0.48974	GAG		PASS	0.478	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		16	77	16	77	---	---	---	---
GBP5	115362	broad.mit.edu	37	1	89729533	89729533	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:89729533T>C	ENST00000370459.3	-	8	1375	c.1248A>G	c.(1246-1248)ctA>ctG	p.L416L	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Silent_p.L416L|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	416						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.L416L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTGCTTCTTCTAGAGGACCAA	0.418																																						uc001dnc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1246-1248)CTA>CTG		guanylate-binding protein 5							185.0	188.0	187.0					1																	89729533		2203	4300	6503	SO:0001819	synonymous_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89729533T>C	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1248A>G	1.37:g.89729533T>C						GBP5_uc001dnd.2_Silent_p.L416L|GBP5_uc001dne.1_Silent_p.L416L	p.L416L	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	9	1785	-			416					B2RCE1|Q86TM5	Silent	SNP	ENST00000370459.3	37	c.1248A>G	CCDS722.1																																																																																				PASS	0.418	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		74	392	74	392	---	---	---	---
GLMN	11146	broad.mit.edu	37	1	92737089	92737089	+	Missense_Mutation	SNP	T	T	C	rs139743855	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:92737089T>C	ENST00000370360.3	-	8	937	c.856A>G	c.(856-858)Atg>Gtg	p.M286V	GLMN_ENST00000534881.1_Missense_Mutation_p.M286V	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	286					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)	p.M286V(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		AGAGAAGCCATTGAGTCTGCT	0.353									Multiple Glomus Tumors (of the Skin), Familial																													uc001dor.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(856-858)ATG>GTG		glomulin		T	VAL/MET	2,4404	4.2+/-10.8	0,2,2201	185.0	178.0	180.0		856	4.0	1.0	1	dbSNP_134	180	4,8596	3.7+/-12.6	0,4,4296	yes	missense	GLMN	NM_053274.2	21	0,6,6497	CC,CT,TT		0.0465,0.0454,0.0461	benign	286/595	92737089	6,13000	2203	4300	6503	SO:0001583	missense	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92737089T>C	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.856A>G	1.37:g.92737089T>C	ENSP00000359385:p.Met286Val					GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.M286V	p.M286V	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	8	971	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	286			Potential.		Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.856A>G	CCDS738.1	.	.	.	.	.	.	.	.	.	.	T	9.201	1.028563	0.19512	4.54E-4	4.65E-4	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.40756	1.02;1.02	5.08	3.96	0.45880	.	0.209062	0.51477	N	0.000099	T	0.09730	0.0239	N	0.22421	0.69	0.22500	N	0.99905	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18935	-1.0321	10	0.36615	T	0.2	-6.2523	4.1808	0.10374	0.2871:0.0951:0.0:0.6178	.	286;286	B4DJ85;Q92990	.;GLMN_HUMAN	V	286	ENSP00000359385:M286V;ENSP00000440156:M286V	ENSP00000359385:M286V	M	-	1	0	GLMN	92509677	0.081000	0.21417	1.000000	0.80357	0.842000	0.47809	0.108000	0.15396	0.784000	0.33661	0.482000	0.46254	ATG		PASS	0.353	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		26	185	26	185	---	---	---	---
DBT	1629	broad.mit.edu	37	1	100671853	100671853	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:100671853C>G	ENST00000370132.4	-	10	1227	c.1214G>C	c.(1213-1215)gGt>gCt	p.G405A		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	405					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)	p.G405A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AAAGGTACCACCAATCtattt	0.323																																						uc001dta.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1213-1215)GGT>GCT		dihydrolipoamide branched chain transacylase							59.0	60.0	60.0					1																	100671853		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100671853C>G	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.1214G>C	1.37:g.100671853C>G	ENSP00000359151:p.Gly405Ala					DBT_uc010oug.1_Missense_Mutation_p.G224A	p.G405A	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	10	1247	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	405					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.1214G>C	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394051	0.83011	.	.	ENSG00000137992	ENST00000543138;ENST00000370132	T	0.66280	-0.2	5.97	5.06	0.68205	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	H	0.95712	3.71	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.942;0.966	D	0.88675	0.3198	10	0.87932	D	0	-25.2593	16.7051	0.85369	0.1304:0.8696:0.0:0.0	.	224;405	F5H1F9;P11182	.;ODB2_HUMAN	A	224;405	ENSP00000359151:G405A	ENSP00000359151:G405A	G	-	2	0	DBT	100444441	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.400000	0.79949	1.524000	0.49035	0.655000	0.94253	GGT		PASS	0.323	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		16	51	16	51	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103364285	103364285	+	Silent	SNP	G	G	C	rs112577505	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:103364285G>C	ENST00000370096.3	-	56	4497	c.4185C>G	c.(4183-4185)gtC>gtG	p.V1395V	COL11A1_ENST00000358392.2_Silent_p.V1407V|COL11A1_ENST00000353414.4_Silent_p.V1356V|COL11A1_ENST00000512756.1_Silent_p.V1279V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1395	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.V1395V(2)|p.V1407V(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGAGGACCGACTGGGCCGG	0.473																																						uc001dul.2																			4	Substitution - coding silent(4)		lung(2)|endometrium(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4183-4185)GTC>GTG		alpha 1 type XI collagen isoform A							45.0	47.0	46.0					1																	103364285		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103364285G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4185C>G	1.37:g.103364285G>C						COL11A1_uc001duk.2_Silent_p.V591V|COL11A1_uc001dum.2_Silent_p.V1407V|COL11A1_uc001dun.2_Silent_p.V1356V|COL11A1_uc009weh.2_Silent_p.V1279V	p.V1395V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	56	4503	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1395			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.4185C>G	CCDS778.1																																																																																				PASS	0.473	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		14	87	14	87	---	---	---	---
HENMT1	113802	broad.mit.edu	37	1	109197375	109197375	+	Missense_Mutation	SNP	G	G	A	rs370205325		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:109197375G>A	ENST00000370032.5	-	5	781	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	HENMT1_ENST00000402983.1_Missense_Mutation_p.R121C|HENMT1_ENST00000370031.1_Missense_Mutation_p.R121C|HENMT1_ENST00000493676.1_5'UTR	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	121					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.R121C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						CCAAGCAAACGAGAGTCTCTC	0.403																																						uc001dvt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CGT>TGT		hypothetical protein LOC113802		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	79.0	81.0		361,361	1.7	0.5	1		81	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	HENMT1	NM_001102592.1,NM_144584.2	180,180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging	121/394,121/394	109197375	3,13003	2203	4300	6503	SO:0001583	missense	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109197375G>A		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.361C>T	1.37:g.109197375G>A	ENSP00000359049:p.Arg121Cys					C1orf59_uc001dvu.3_Missense_Mutation_p.R121C|C1orf59_uc009wer.2_Missense_Mutation_p.R121C	p.R121C	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)	5	599	-		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	121					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	c.361C>T	CCDS787.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719476	0.30503	2.27E-4	2.33E-4	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.1	1.68	0.24146	.	0.105652	0.64402	D	0.000003	T	0.11452	0.0279	L	0.41906	1.305	0.36796	D	0.885125	P	0.42556	0.783	B	0.35240	0.198	T	0.04621	-1.0938	10	0.30854	T	0.27	-17.5991	3.3981	0.07313	0.421:0.2012:0.3778:0.0	.	121	Q5T8I9	HENMT_HUMAN	C	121	ENSP00000385655:R121C;ENSP00000359048:R121C;ENSP00000359049:R121C;ENSP00000403953:R121C	ENSP00000359048:R121C	R	-	1	0	HENMT1	108998898	0.980000	0.34600	0.490000	0.27465	0.835000	0.47333	2.169000	0.42434	0.669000	0.31146	-0.145000	0.13849	CGT		PASS	0.403	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		20	65	20	65	---	---	---	---
AKNAD1	254268	broad.mit.edu	37	1	109391602	109391602	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:109391602G>C	ENST00000370001.3	-	4	1382	c.1114C>G	c.(1114-1116)Caa>Gaa	p.Q372E	AKNAD1_ENST00000369995.3_Missense_Mutation_p.Q372E|AKNAD1_ENST00000369994.1_Missense_Mutation_p.Q372E|AKNAD1_ENST00000357393.4_Missense_Mutation_p.Q79E	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	372						cytoplasm (GO:0005737)		p.Q372E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GATATCTTTTGAAATATGTAA	0.343																																						uc001dwa.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1114-1116)CAA>GAA		hypothetical protein LOC254268							84.0	89.0	87.0					1																	109391602		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109391602G>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1114C>G	1.37:g.109391602G>C	ENSP00000359018:p.Gln372Glu					AKNAD1_uc010ovb.1_Missense_Mutation_p.Q79E|AKNAD1_uc001dwb.2_RNA	p.Q372E	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			4	1383	-			372			Potential.		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1114C>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223650	0.39300	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.31	4.35	0.52113	.	0.298862	0.27482	N	0.019180	T	0.25121	0.0610	L	0.32530	0.975	0.24935	N	0.991893	D;D	0.71674	0.998;0.998	D;D	0.64321	0.924;0.924	T	0.05886	-1.0858	10	0.14656	T	0.56	-6.3836	15.5524	0.76164	0.0:0.0:0.8618:0.1382	.	79;372	B4DET8;Q5T1N1	.;AKND1_HUMAN	E	372;79;372;372	ENSP00000359018:Q372E;ENSP00000349968:Q79E;ENSP00000359011:Q372E;ENSP00000359012:Q372E	ENSP00000349968:Q79E	Q	-	1	0	AKNAD1	109193125	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	1.858000	0.39408	2.647000	0.89833	0.561000	0.74099	CAA		PASS	0.343	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		13	225	13	225	---	---	---	---
AMIGO1	57463	broad.mit.edu	37	1	110050902	110050902	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:110050902C>A	ENST00000369864.4	-	2	982	c.633G>T	c.(631-633)tgG>tgT	p.W211C	AMIGO1_ENST00000369862.1_Missense_Mutation_p.W211C					adhesion molecule with Ig-like domain 1									p.W211C(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CATTCTTGATCCAGGCCGGCA	0.527																																						uc001dxx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(631-633)TGG>TGT		AMIGO protein precursor							94.0	90.0	91.0					1																	110050902		2203	4300	6503	SO:0001583	missense	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050902C>A		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.633G>T	1.37:g.110050902C>A	ENSP00000358880:p.Trp211Cys						p.W211C	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	1015	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	211			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000369864.4	37	c.633G>T	CCDS30795.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325119	0.41197	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.02369	4.32;4.32	5.84	5.84	0.93424	.	0.198849	0.35525	N	0.003141	T	0.07234	0.0183	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.36237	-0.9756	10	0.45353	T	0.12	-6.1821	18.9096	0.92477	0.0:1.0:0.0:0.0	.	211	Q86WK6	AMGO1_HUMAN	C	211	ENSP00000358880:W211C;ENSP00000358878:W211C	ENSP00000358878:W211C	W	-	3	0	AMIGO1	109852425	0.922000	0.31269	0.995000	0.50966	0.875000	0.50365	1.047000	0.30367	2.763000	0.94921	0.650000	0.86243	TGG		PASS	0.527	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		33	168	33	168	---	---	---	---
GSTM4	2948	broad.mit.edu	37	1	110201676	110201676	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:110201676G>C	ENST00000369836.4	+	7	820	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Missense_Mutation_p.E110Q|GSTM4_ENST00000326729.5_Missense_Mutation_p.E171Q|GSTM4_ENST00000369833.1_Missense_Mutation_p.E130Q	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	171	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)	p.E130Q(1)|p.E171Q(1)		endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CCGTATATTTGAGCCCAACTG	0.502																																						uc001dyf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(511-513)GAG>CAG		glutathione S-transferase mu 4 isoform 1	Glutathione(DB00143)						493.0	459.0	471.0					1																	110201676		2203	4300	6503	SO:0001583	missense	2948				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110201676G>C	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.511G>C	1.37:g.110201676G>C	ENSP00000358851:p.Glu171Gln					GSTM4_uc001dyg.2_Missense_Mutation_p.E67Q|GSTM4_uc009wfj.2_Missense_Mutation_p.E110Q|GSTM4_uc001dyh.2_Missense_Mutation_p.E171Q|GSTM2_uc001dyi.2_Intron	p.E171Q	NM_000850	NP_000841	Q03013	GSTM4_HUMAN		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	7	825	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	171			GST C-terminal.		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Missense_Mutation	SNP	ENST00000369836.4	37	c.511G>C	CCDS807.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953600	0.34471	.	.	ENSG00000168765	ENST00000369836;ENST00000336075;ENST00000326729;ENST00000369833	T;T;T;T	0.02140	4.43;4.43;4.43;4.43	4.01	3.07	0.35406	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.246614	0.31404	N	0.007715	T	0.01870	0.0059	M	0.78285	2.405	0.43255	D	0.995184	B;B;B	0.19706	0.028;0.024;0.038	B;B;B	0.29267	0.1;0.02;0.03	T	0.28202	-1.0051	10	0.33940	T	0.23	-21.1116	11.1429	0.48413	0.0:0.1883:0.8116:0.0	.	110;171;171	Q4JNT8;Q03013-2;Q03013	.;.;GSTM4_HUMAN	Q	171;110;171;130	ENSP00000358851:E171Q;ENSP00000336744:E110Q;ENSP00000316471:E171Q;ENSP00000358848:E130Q	ENSP00000316471:E171Q	E	+	1	0	GSTM4	110003199	1.000000	0.71417	0.188000	0.23233	0.017000	0.09413	2.954000	0.49113	1.027000	0.39758	0.306000	0.20318	GAG		PASS	0.502	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850		122	623	122	623	---	---	---	---
SLC16A4	9122	broad.mit.edu	37	1	110925519	110925519	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:110925519C>T	ENST00000369779.4	-	3	406	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	SLC16A4_ENST00000369781.4_Missense_Mutation_p.E53K|SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.E53K	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	53					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.E53K(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GAGGTGCCTTCAAACTCTTCT	0.418																																						uc001dzo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(157-159)GAA>AAA		solute carrier family 16, member 4	Pyruvic acid(DB00119)						122.0	117.0	118.0					1																	110925519		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110925519C>T	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.157G>A	1.37:g.110925519C>T	ENSP00000358794:p.Glu53Lys					SLC16A4_uc009wfs.1_Missense_Mutation_p.E53K|SLC16A4_uc001dzp.1_Missense_Mutation_p.E53K|SLC16A4_uc010ovy.1_Intron|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Intron	p.E53K	NM_004696	NP_004687	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	3	339	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	53			Extracellular (Potential).		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.157G>A	CCDS823.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975078	0.34848	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781	T;T;T	0.80566	-1.39;-1.39;0.39	4.55	3.64	0.41730	Major facilitator superfamily domain, general substrate transporter (1);	0.305824	0.35903	N	0.002912	T	0.70937	0.3281	L	0.58428	1.81	0.80722	D	1	B;B;P	0.34615	0.109;0.205;0.459	B;B;P	0.46144	0.097;0.102;0.505	T	0.68447	-0.5406	10	0.12103	T	0.63	.	11.2702	0.49133	0.0:0.9152:0.0:0.0848	.	53;53;53	G3V175;Q8WU09;O15374	.;.;MOT5_HUMAN	K	53	ENSP00000358794:E53K;ENSP00000432495:E53K;ENSP00000358796:E53K	ENSP00000358794:E53K	E	-	1	0	SLC16A4	110727042	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.300000	0.59079	1.270000	0.44297	0.655000	0.94253	GAA		PASS	0.418	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		28	128	28	128	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114483936	114483936	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:114483936C>T	ENST00000369558.1	+	2	1163	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	HIPK1_ENST00000426820.2_Silent_p.L311L|HIPK1_ENST00000369561.4_Silent_p.L311L|HIPK1_ENST00000369559.4_Silent_p.L311L|HIPK1_ENST00000369555.2_Silent_p.L311L|HIPK1_ENST00000369554.2_Silent_p.L311L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L311L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTCTTGGTCTGATCCACGC	0.478																																						uc001eem.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(931-933)CTG>TTG		homeodomain-interacting protein kinase 1 isoform							106.0	99.0	101.0					1																	114483936		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483936C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.931C>T	1.37:g.114483936C>T						HIPK1_uc001eel.2_Silent_p.L311L|HIPK1_uc001een.2_Silent_p.L311L	p.L311L	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1092	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	311			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.931C>T	CCDS867.1																																																																																				PASS	0.478	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		31	177	31	177	---	---	---	---
MAB21L3	126868	broad.mit.edu	37	1	116666819	116666819	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:116666819G>A	ENST00000369500.3	+	4	587	c.322G>A	c.(322-324)Gag>Aag	p.E108K	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	108								p.E108K(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						GCGGGACCCTGAGGGTCTGCA	0.607																																						uc001egc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)GAG>AAG		hypothetical protein LOC126868							67.0	64.0	65.0					1																	116666819		2203	4300	6503	SO:0001583	missense	126868							g.chr1:116666819G>A	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.322G>A	1.37:g.116666819G>A	ENSP00000358512:p.Glu108Lys						p.E108K	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	587	+	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	108					Q5TDL7	Missense_Mutation	SNP	ENST00000369500.3	37	c.322G>A	CCDS886.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699280	0.88830	.	.	ENSG00000173212	ENST00000369500	T	0.08008	3.14	5.16	5.16	0.70880	.	0.221865	0.31734	N	0.007149	T	0.13072	0.0317	M	0.78223	2.4	0.58432	D	0.999994	P	0.52692	0.955	P	0.54889	0.763	T	0.14420	-1.0473	10	0.14252	T	0.57	-6.0866	16.839	0.85963	0.0:0.0:1.0:0.0	.	108	Q8N8X9	MB213_HUMAN	K	108	ENSP00000358512:E108K	ENSP00000358512:E108K	E	+	1	0	MAB21L3	116468342	1.000000	0.71417	0.935000	0.37517	0.562000	0.35680	7.421000	0.80204	2.402000	0.81655	0.650000	0.86243	GAG		PASS	0.607	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		13	88	13	88	---	---	---	---
CD2	914	broad.mit.edu	37	1	117297467	117297467	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:117297467G>C	ENST00000369478.3	+	2	384	c.276G>C	c.(274-276)ctG>ctC	p.L92L	CD2_ENST00000369477.1_Silent_p.L92L	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	92	Ig-like V-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.L92L(1)		NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ATGGAACTCTGAAAATTAAGC	0.294																																					NSCLC(14;263 555 26380 43512 51332)	uc001egu.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(274-276)CTG>CTC		CD2 molecule precursor	Alefacept(DB00092)						41.0	43.0	42.0					1																	117297467		2200	4299	6499	SO:0001819	synonymous_variant	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117297467G>C	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.276G>C	1.37:g.117297467G>C						CD2_uc010owz.1_Silent_p.L92L|CD2_uc010oxa.1_Silent_p.L92L	p.L92L	NM_001767	NP_001758	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	2	305	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	92			Extracellular (Potential).|Ig-like V-type.		Q96TE5	Silent	SNP	ENST00000369478.3	37	c.276G>C	CCDS889.1																																																																																				PASS	0.294	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		11	85	11	85	---	---	---	---
CD2	914	broad.mit.edu	37	1	117297543	117297543	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:117297543T>C	ENST00000369478.3	+	2	460	c.352T>C	c.(352-354)Ttg>Ctg	p.L118L	CD2_ENST00000369477.1_Silent_p.L118L	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	118	Ig-like V-type.|LFA-3 (CD58) binding region 2.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.L118L(1)		NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAAAAATGTGTTGGAAAAAAT	0.308																																					NSCLC(14;263 555 26380 43512 51332)	uc001egu.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(352-354)TTG>CTG		CD2 molecule precursor	Alefacept(DB00092)						42.0	43.0	43.0					1																	117297543		2203	4299	6502	SO:0001819	synonymous_variant	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117297543T>C	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.352T>C	1.37:g.117297543T>C						CD2_uc010owz.1_Silent_p.L118L|CD2_uc010oxa.1_Silent_p.L118L	p.L118L	NM_001767	NP_001758	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	2	381	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	118			Extracellular (Potential).|LFA-3 (CD58) binding region 2.|Ig-like V-type.		Q96TE5	Silent	SNP	ENST00000369478.3	37	c.352T>C	CCDS889.1																																																																																				PASS	0.308	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		11	71	11	71	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145578463	145578463	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:145578463C>G	ENST00000393045.2	+	2	516	c.426C>G	c.(424-426)atC>atG	p.I142M	PIAS3_ENST00000369299.3_Missense_Mutation_p.I133M|PIAS3_ENST00000369298.1_Missense_Mutation_p.I107M	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	142	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.I142M(1)|p.I133M(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGAGCTCATCCGGCCCACCA	0.547																																						uc001eoc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(424-426)ATC>ATG		protein inhibitor of activated STAT, 3							105.0	107.0	106.0					1																	145578463		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145578463C>G	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.426C>G	1.37:g.145578463C>G	ENSP00000376765:p.Ile142Met					NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.I133M|PIAS3_uc001eod.1_5'Flank	p.I142M	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			2	517	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		142			PINIT.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.426C>G	CCDS920.2	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556845	0.45590	.	.	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	3.79	1.91	0.25777	PINIT domain (1);	0.000000	0.47852	D	0.000207	T	0.55752	0.1940	M	0.72894	2.215	0.41869	D	0.990265	P;D	0.69078	0.929;0.997	P;D	0.81914	0.729;0.995	T	0.58929	-0.7549	10	0.72032	D	0.01	-11.2089	7.5941	0.28037	0.0:0.7846:0.0:0.2154	.	133;142	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	M	133;133;142;107	ENSP00000376766:I133M;ENSP00000358305:I133M;ENSP00000376765:I142M;ENSP00000358304:I107M	ENSP00000358304:I107M	I	+	3	3	PIAS3	144289820	0.861000	0.29849	1.000000	0.80357	0.994000	0.84299	-0.010000	0.12743	0.291000	0.22468	-0.254000	0.11334	ATC		PASS	0.547	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		12	182	12	182	---	---	---	---
VPS45	11311	broad.mit.edu	37	1	150082657	150082657	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:150082657G>C	ENST00000369130.3	+	14	2086	c.1540G>C	c.(1540-1542)Gag>Cag	p.E514Q	VPS45_ENST00000369128.5_Missense_Mutation_p.E409Q|VPS45_ENST00000535106.1_3'UTR|VPS45_ENST00000484306.1_3'UTR	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	514					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.E514Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|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)			CACCTATGAAGAGGCTCTAAC	0.418																																						uc001etp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1540-1542)GAG>CAG		vacuolar protein sorting 45A							93.0	93.0	93.0					1																	150082657		2203	4300	6503	SO:0001583	missense	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150082657G>C	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1540G>C	1.37:g.150082657G>C	ENSP00000358126:p.Glu514Gln					VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.E478Q|VPS45_uc010pbs.1_Missense_Mutation_p.E409Q|VPS45_uc001etq.2_Missense_Mutation_p.E334Q	p.E514Q	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		14	2113	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		514					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	c.1540G>C	CCDS944.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004841	0.93287	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000543996	D;D	0.99129	-5.22;-5.46	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	H	0.95079	3.62	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	0.98220	1.0477	10	0.87932	D	0	.	18.4143	0.90563	0.0:0.0:1.0:0.0	.	409;334;514	F5H8K1;A0AR27;Q9NRW7	.;.;VPS45_HUMAN	Q	514;409;389	ENSP00000358126:E514Q;ENSP00000358124:E409Q	ENSP00000358124:E409Q	E	+	1	0	VPS45	148349281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.146000	0.94640	2.688000	0.91661	0.655000	0.94253	GAG		PASS	0.418	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		15	151	15	151	---	---	---	---
CA14	23632	broad.mit.edu	37	1	150236221	150236221	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:150236221C>G	ENST00000369111.4	+	10	1861	c.891C>G	c.(889-891)atC>atG	p.I297M	snoU13_ENST00000458929.1_RNA|APH1A_ENST00000461320.1_5'Flank	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	297					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.I297M(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	GTGTAGGAATCTTGGTTGGCT	0.463																																						uc001etx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(889-891)ATC>ATG		carbonic anhydrase XIV precursor							256.0	250.0	252.0					1																	150236221		2203	4300	6503	SO:0001583	missense	23632					integral to membrane	carbonate dehydratase activity|metal ion binding	g.chr1:150236221C>G	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.891C>G	1.37:g.150236221C>G	ENSP00000358107:p.Ile297Met						p.I297M	NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		10	1200	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		297			Helical; (Potential).		Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	c.891C>G	CCDS947.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.770862	0.69992	.	.	ENSG00000118298	ENST00000369111	T	0.68624	-0.34	5.66	5.66	0.87406	.	0.150218	0.46145	D	0.000301	T	0.62441	0.2428	N	0.24115	0.695	0.38507	D	0.948389	D	0.71674	0.998	P	0.61940	0.896	T	0.68723	-0.5333	10	0.66056	D	0.02	.	15.245	0.73499	0.0:1.0:0.0:0.0	.	297	Q9ULX7	CAH14_HUMAN	M	297	ENSP00000358107:I297M	ENSP00000358107:I297M	I	+	3	3	CA14	148502845	0.922000	0.31269	0.971000	0.41717	0.991000	0.79684	2.647000	0.46639	2.677000	0.91161	0.591000	0.81541	ATC		PASS	0.463	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		103	691	103	691	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150526437	150526437	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:150526437C>T	ENST00000369038.2	+	4	1171	c.970C>T	c.(970-972)Cac>Tac	p.H324Y	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.H324Y|RP11-54A4.2_ENST00000442435.2_RNA|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.H324Y|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.H324Y			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	324					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.H324Y(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGGGACTCCTCACGGGCCCCG	0.711																																						uc001eux.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(970-972)CAC>TAC		thrombospondin repeat containing 1 isoform 1							10.0	12.0	11.0					1																	150526437		2188	4259	6447	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150526437C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.970C>T	1.37:g.150526437C>T	ENSP00000358034:p.His324Tyr					ADAMTSL4_uc001euw.2_Missense_Mutation_p.H324Y|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.H324Y|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.H324Y	p.H324Y	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	1206	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		324					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.970C>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363694	0.24684	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.62105	0.14;0.05;0.32;0.05	4.44	2.58	0.30949	.	.	.	.	.	T	0.19565	0.0470	L	0.29908	0.895	0.09310	N	1	B;B;B;P	0.37864	0.347;0.378;0.165;0.61	B;B;B;B	0.32393	0.063;0.145;0.069;0.134	T	0.13980	-1.0489	9	0.09084	T	0.74	.	8.1456	0.31110	0.0:0.8038:0.0:0.1962	.	324;324;324;324	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	Y	324	ENSP00000358037:H324Y;ENSP00000271643:H324Y;ENSP00000358035:H324Y;ENSP00000358034:H324Y	ENSP00000271643:H324Y	H	+	1	0	ADAMTSL4	148793061	0.035000	0.19736	0.000000	0.03702	0.018000	0.09664	2.207000	0.42788	0.522000	0.28464	0.555000	0.69702	CAC		PASS	0.711	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		5	39	5	39	---	---	---	---
CTSS	1520	broad.mit.edu	37	1	150724428	150724428	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:150724428C>T	ENST00000368985.3	-	5	716	c.456G>A	c.(454-456)ctG>ctA	p.L152L	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.L102L	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	152					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.L152L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTTTCAGCTTCAGCTGTGCTT	0.478																																						uc001evn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(454-456)CTG>CTA		cathepsin S preproprotein							108.0	103.0	105.0					1																	150724428		2203	4300	6503	SO:0001819	synonymous_variant	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150724428C>T	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.456G>A	1.37:g.150724428C>T						CTSS_uc010pcj.1_Silent_p.L102L|CTSS_uc001evo.1_Silent_p.L152L	p.L152L	NM_004079	NP_004070	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	589	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		152					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Silent	SNP	ENST00000368985.3	37	c.456G>A	CCDS968.1																																																																																				PASS	0.478	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		19	153	19	153	---	---	---	---
TNFAIP8L2	79626	broad.mit.edu	37	1	151131683	151131683	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:151131683G>C	ENST00000368910.3	+	2	636	c.510G>C	c.(508-510)aaG>aaC	p.K170N		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	170					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)		p.K170N(1)		lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCTTGGCAAGATCTGTGACG	0.542																																						uc001ewx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)AAG>AAC		tumor necrosis factor, alpha-induced protein							39.0	38.0	38.0					1																	151131683		2203	4300	6503	SO:0001583	missense	79626				innate immune response			g.chr1:151131683G>C	BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.510G>C	1.37:g.151131683G>C	ENSP00000357906:p.Lys170Asn						p.K170N	NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	636	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		170					Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	ENST00000368910.3	37	c.510G>C	CCDS985.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657469	0.67586	.	.	ENSG00000163154	ENST00000368910	T	0.38722	1.12	5.36	5.36	0.76844	.	0.101452	0.64402	D	0.000005	T	0.39332	0.1074	L	0.43598	1.365	0.80722	D	1	D	0.56035	0.974	P	0.61592	0.891	T	0.06643	-1.0815	10	0.25751	T	0.34	-16.6556	11.4253	0.50007	0.0827:0.0:0.9173:0.0	.	170	Q6P589	TP8L2_HUMAN	N	170	ENSP00000357906:K170N	ENSP00000357906:K170N	K	+	3	2	TNFAIP8L2	149398307	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.639000	0.37176	2.782000	0.95742	0.655000	0.94253	AAG		PASS	0.542	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	NM_024575		9	84	9	84	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152277254	152277254	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:152277254C>G	ENST00000368799.1	-	3	10143	c.10108G>C	c.(10108-10110)Gag>Cag	p.E3370Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3370	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E3370Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGCGGACTCTTGGTGGCTC	0.582									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10108-10110)GAG>CAG		filaggrin							299.0	317.0	311.0					1																	152277254		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277254C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10108G>C	1.37:g.152277254C>G	ENSP00000357789:p.Glu3370Gln						p.E3370Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10144	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3370			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10108G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.202	1.028620	0.19512	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00882	5.58	2.61	-1.68	0.08212	.	.	.	.	.	T	0.01254	0.0041	M	0.75447	2.3	0.09310	N	1	D	0.71674	0.998	D	0.81914	0.995	T	0.48433	-0.9036	9	0.33141	T	0.24	.	5.0193	0.14352	0.0:0.2978:0.5422:0.1601	.	3370	P20930	FILA_HUMAN	Q	3370;308	ENSP00000357789:E3370Q	ENSP00000357786:E308Q	E	-	1	0	FLG	150543878	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.672000	0.00397	-0.044000	0.13491	0.454000	0.30748	GAG		PASS	0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		86	759	86	759	---	---	---	---
CHTOP	26097	broad.mit.edu	37	1	153617731	153617731	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:153617731G>T	ENST00000368694.3	+	6	1045	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	CHTOP_ENST00000368690.3_Nonsense_Mutation_p.E199*|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368687.1_Nonsense_Mutation_p.E220*|CHTOP_ENST00000403433.1_Nonsense_Mutation_p.E199*	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	245					mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)	p.E245*(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						GACAGATCCCGAAACCAATGA	0.448																																						uc001fcm.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(733-735)GAA>TAA		small protein rich in arginine and glycine							102.0	93.0	97.0					1																	153617731		2203	4300	6503	SO:0001587	stop_gained	26097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding	g.chr1:153617731G>T		CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"""small protein rich in arginine and glycine"", ""Friend of Prmt1"""	614206	"""chromosome 1 open reading frame 77"""	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.733G>T	1.37:g.153617731G>T	ENSP00000357683:p.Glu245*					C1orf77_uc001fcn.1_Nonsense_Mutation_p.E246*|C1orf77_uc001fco.1_Nonsense_Mutation_p.E220*|C1orf77_uc001fcp.2_RNA	p.E245*	NM_015607	NP_056422	Q9Y3Y2	CHTOP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1045	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		245					D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Nonsense_Mutation	SNP	ENST00000368694.3	37	c.733G>T	CCDS1048.1	.	.	.	.	.	.	.	.	.	.	G	37	6.049870	0.97236	.	.	ENSG00000160679	ENST00000368694;ENST00000403433;ENST00000368690;ENST00000368687	.	.	.	6.15	5.25	0.73442	.	0.141010	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-14.7888	13.3175	0.60415	0.0757:0.0:0.9243:0.0	.	.	.	.	X	245;199;199;220	.	ENSP00000357676:E220X	E	+	1	0	CHTOP	151884355	1.000000	0.71417	0.955000	0.39395	0.841000	0.47740	7.583000	0.82559	1.624000	0.50355	0.643000	0.83706	GAA		PASS	0.448	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089967.1	NM_015607		12	64	12	64	---	---	---	---
CREB3L4	148327	broad.mit.edu	37	1	153945266	153945266	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:153945266T>A	ENST00000368607.3	+	5	856	c.590T>A	c.(589-591)cTg>cAg	p.L197Q	CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.L197Q|CREB3L4_ENST00000368603.1_Missense_Mutation_p.L197Q|CREB3L4_ENST00000368600.3_Missense_Mutation_p.L177Q|CREB3L4_ENST00000405694.3_Missense_Mutation_p.L50Q|CREB3L4_ENST00000368601.1_Missense_Mutation_p.L197Q	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	197					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)	p.L197Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGCGTCTGCTGGGGCAGGAA	0.602																																						uc001fdn.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(589-591)CTG>CAG		cAMP responsive element binding protein 3-like							56.0	51.0	53.0					1																	153945266		2203	4300	6503	SO:0001583	missense	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153945266T>A	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.590T>A	1.37:g.153945266T>A	ENSP00000357596:p.Leu197Gln					CREB3L4_uc010pef.1_Missense_Mutation_p.L50Q|CREB3L4_uc001fdo.3_Missense_Mutation_p.L177Q|CREB3L4_uc001fdm.1_Missense_Mutation_p.L197Q|CREB3L4_uc001fdp.1_Missense_Mutation_p.L177Q|CREB3L4_uc001fdr.2_Missense_Mutation_p.L197Q|CREB3L4_uc001fdq.2_Missense_Mutation_p.L177Q	p.L197Q	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	856	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		197			Cytoplasmic (Potential).		D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	c.590T>A	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733824	0.89482	.	.	ENSG00000143578	ENST00000405694;ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.43	5.43	0.79202	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.000000	0.64402	D	0.000004	D	0.90099	0.6907	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91356	0.5108	10	0.72032	D	0.01	.	13.4753	0.61306	0.0:0.0:0.0:1.0	.	177;197	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	Q	50;177;197;197;197;197;177	ENSP00000385104:L50Q;ENSP00000391847:L177Q;ENSP00000357596:L197Q;ENSP00000271889:L197Q;ENSP00000357590:L197Q;ENSP00000357592:L197Q;ENSP00000357589:L177Q	ENSP00000271889:L197Q	L	+	2	0	CREB3L4	152211890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.610000	0.82949	2.279000	0.76181	0.533000	0.62120	CTG		PASS	0.602	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		23	58	23	58	---	---	---	---
JTB	10899	broad.mit.edu	37	1	153949464	153949464	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:153949464C>G	ENST00000271843.4	-	2	544	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	JTB_ENST00000356648.1_5'UTR|JTB_ENST00000471173.1_Intron|RP11-422P24.11_ENST00000608236.1_lincRNA|JTB_ENST00000368589.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	37					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)	p.E37Q(1)|p.P8R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GACAGCTTCTCTTCCTGCACG	0.532																																						uc001fds.2																			2	Substitution - Missense(2)		lung(2)		0						c.(109-111)GAG>CAG		jumping translocation breakpoint precursor							116.0	129.0	125.0					1																	153949464		2203	4300	6503	SO:0001583	missense	10899				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	g.chr1:153949464C>G	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.109G>C	1.37:g.153949464C>G	ENSP00000271843:p.Glu37Gln						p.E37Q	NM_006694	NP_006685	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	832	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		37			Extracellular (Potential).		O95442|Q6IB19|Q9P0Q4	Missense_Mutation	SNP	ENST00000271843.4	37	c.109G>C	CCDS1057.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949824	0.73787	.	.	ENSG00000143543	ENST00000271843	T	0.50548	0.74	4.88	4.88	0.63580	.	0.292958	0.32175	N	0.006480	T	0.38665	0.1049	N	0.22421	0.69	0.80722	D	1	D	0.56746	0.977	P	0.57057	0.812	T	0.28808	-1.0032	10	0.52906	T	0.07	-9.8142	13.7191	0.62717	0.0:1.0:0.0:0.0	.	37	O76095	JTB_HUMAN	Q	37	ENSP00000271843:E37Q	ENSP00000271843:E37Q	E	-	1	0	JTB	152216088	0.986000	0.35501	0.998000	0.56505	0.544000	0.35116	3.568000	0.53820	2.698000	0.92095	0.655000	0.94253	GAG		PASS	0.532	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		35	237	35	237	---	---	---	---
ADAR	103	broad.mit.edu	37	1	154562783	154562783	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:154562783G>C	ENST00000368474.4	-	7	2572	c.2373C>G	c.(2371-2373)gtC>gtG	p.V791V	ADAR_ENST00000368471.3_Silent_p.V496V|ADAR_ENST00000292205.5_Silent_p.V834V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	791	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V791V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCCAATCAAGACACGGAGAG	0.557																																						uc001ffh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2371-2373)GTC>GTG		adenosine deaminase, RNA-specific isoform a							98.0	89.0	92.0					1																	154562783		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154562783G>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2373C>G	1.37:g.154562783G>C						ADAR_uc001ffj.2_Silent_p.V772V|ADAR_uc001ffi.2_Silent_p.V791V|ADAR_uc001ffk.2_Silent_p.V496V	p.V791V	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	7	2573	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		791			DRBM 3.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.2373C>G	CCDS1071.1																																																																																				PASS	0.557	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		6	177	6	177	---	---	---	---
THBS3	7059	broad.mit.edu	37	1	155175103	155175103	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:155175103C>T	ENST00000368378.3	-	3	311	c.291G>A	c.(289-291)ctG>ctA	p.L97L	RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000457183.2_Intron|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	97	Laminin G-like.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.L97L(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTATCGCACCAGTACTGCCC	0.612																																						uc001fix.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)	5						c.(289-291)CTG>CTA		thrombospondin 3 precursor							69.0	57.0	61.0					1																	155175103		2203	4300	6503	SO:0001819	synonymous_variant	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155175103C>T	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.291G>A	1.37:g.155175103C>T						RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.L97L|THBS3_uc001fiz.2_Silent_p.L97L|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Intron|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA|THBS3_uc009wqj.1_Silent_p.L59L	p.L97L	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	314	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		97			TSP N-terminal.		B1AVR8|B4DQ20|Q8WV34	Silent	SNP	ENST00000368378.3	37	c.291G>A	CCDS1099.1																																																																																				PASS	0.612	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		31	74	31	74	---	---	---	---
YY1AP1	55249	broad.mit.edu	37	1	155646348	155646348	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:155646348C>G	ENST00000295566.4	-	5	536	c.513G>C	c.(511-513)caG>caC	p.Q171H	YY1AP1_ENST00000404643.1_Missense_Mutation_p.Q105H|YY1AP1_ENST00000368339.5_Missense_Mutation_p.Q243H|YY1AP1_ENST00000359205.5_Missense_Mutation_p.Q94H|YY1AP1_ENST00000535662.1_5'UTR|YY1AP1_ENST00000355499.4_Missense_Mutation_p.Q105H|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368340.5_Missense_Mutation_p.Q243H|YY1AP1_ENST00000368330.2_Missense_Mutation_p.Q105H|YY1AP1_ENST00000347088.5_Missense_Mutation_p.Q105H|YY1AP1_ENST00000438245.2_Missense_Mutation_p.Q105H|YY1AP1_ENST00000361831.5_Missense_Mutation_p.Q94H|YY1AP1_ENST00000311573.5_Missense_Mutation_p.Q94H|YY1AP1_ENST00000405763.3_Missense_Mutation_p.Q243H|YY1AP1_ENST00000407221.1_Missense_Mutation_p.Q94H|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	171					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q243H(1)|p.Q171H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCTGCTGCATCTGCTGCTGGA	0.423																																						uc001fln.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(511-513)CAG>CAC		YY1-associated protein isoform 2							207.0	179.0	189.0					1																	155646348		2203	4300	6503	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155646348C>G	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.513G>C	1.37:g.155646348C>G	ENSP00000295566:p.Gln171His					YY1AP1_uc010pgg.1_Missense_Mutation_p.Q39H|YY1AP1_uc010pgh.1_Missense_Mutation_p.Q94H|YY1AP1_uc010pgi.1_Missense_Mutation_p.Q243H|YY1AP1_uc001flh.2_Missense_Mutation_p.Q243H|YY1AP1_uc009wqt.2_Missense_Mutation_p.Q94H|YY1AP1_uc001flk.2_Missense_Mutation_p.Q94H|YY1AP1_uc001fll.2_Missense_Mutation_p.Q105H|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.Q94H|YY1AP1_uc001fli.2_Missense_Mutation_p.Q105H|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.Q105H|YY1AP1_uc009wqw.2_Missense_Mutation_p.Q94H|YY1AP1_uc001flo.2_Missense_Mutation_p.Q39H|YY1AP1_uc001flp.2_Missense_Mutation_p.Q105H|YY1AP1_uc010pgj.1_Missense_Mutation_p.Q171H|YY1AP1_uc009wqx.2_Missense_Mutation_p.Q243H|YY1AP1_uc010pgk.1_Missense_Mutation_p.Q243H	p.Q171H	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			5	537	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		171					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.513G>C	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035147	0.54896	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.76448	-0.99;-1.02;-0.05;-1.02;-0.99;0.93;0.94;-1.02;-0.05;0.96;-0.95	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.83519	0.5272	M	0.77313	2.365	0.42605	D	0.993297	D;D;D;D;D;P;D;D	0.89917	0.999;0.999;0.997;0.998;1.0;0.914;1.0;0.999	D;D;D;D;D;P;D;D	0.91635	0.999;0.999;0.993;0.996;0.999;0.763;0.999;0.998	D	0.85651	0.1282	10	0.87932	D	0	.	10.5955	0.45336	0.0:0.9007:0.0:0.0993	.	105;171;243;105;243;171;105;243	B4DZQ4;B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;.;YYAP1_HUMAN;.;.	H	94;105;94;105;94;243;171;105;94;105;243;243;105;94;105	ENSP00000352134:Q94H;ENSP00000347686:Q105H;ENSP00000311138:Q94H;ENSP00000316079:Q105H;ENSP00000355298:Q94H;ENSP00000357324:Q243H;ENSP00000295566:Q171H;ENSP00000357314:Q105H;ENSP00000385791:Q94H;ENSP00000385390:Q105H;ENSP00000357323:Q243H	ENSP00000295566:Q171H	Q	-	3	2	YY1AP1	153912972	0.997000	0.39634	1.000000	0.80357	0.918000	0.54935	0.176000	0.16782	1.933000	0.56026	0.455000	0.32223	CAG		PASS	0.423	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		70	466	70	466	---	---	---	---
SYT11	23208	broad.mit.edu	37	1	155838163	155838163	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:155838163T>A	ENST00000368324.4	+	2	695	c.442T>A	c.(442-444)Tct>Act	p.S148T	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	148					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.S148T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CAAAACCACCTCTCCATCATC	0.498																																						uc001fmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(442-444)TCT>ACT		synaptotagmin XI							97.0	96.0	96.0					1																	155838163		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838163T>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.442T>A	1.37:g.155838163T>A	ENSP00000357307:p.Ser148Thr					SYT11_uc010pgq.1_Intron	p.S148T	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	705	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		148			Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.442T>A	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013507	0.54468	.	.	ENSG00000132718	ENST00000368324	T	0.47177	0.85	5.35	5.35	0.76521	.	0.059799	0.64402	D	0.000001	T	0.21427	0.0516	N	0.21194	0.64	0.80722	D	1	B	0.21753	0.06	B	0.17098	0.017	T	0.05321	-1.0892	10	0.39692	T	0.17	.	15.1452	0.72643	0.0:0.0:0.0:1.0	.	148	Q9BT88	SYT11_HUMAN	T	148	ENSP00000357307:S148T	ENSP00000357307:S148T	S	+	1	0	SYT11	154104787	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.211000	0.65219	2.244000	0.73946	0.533000	0.62120	TCT		PASS	0.498	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		64	207	64	207	---	---	---	---
SSR2	6746	broad.mit.edu	37	1	155979398	155979398	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:155979398C>T	ENST00000295702.4	-	6	556	c.485G>A	c.(484-486)gGc>gAc	p.G162D	SSR2_ENST00000496742.1_3'UTR|SSR2_ENST00000480567.1_Missense_Mutation_p.G162D|SSR2_ENST00000529008.1_3'UTR	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	162					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G162D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGGGGGATGCCGATGGAGGG	0.517																																						uc001fmx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)GGC>GAC		signal sequence receptor, beta precursor							123.0	112.0	116.0					1																	155979398		2203	4300	6503	SO:0001583	missense	6746				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	g.chr1:155979398C>T	BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.485G>A	1.37:g.155979398C>T	ENSP00000295702:p.Gly162Asp					SSR2_uc001fmv.2_RNA|SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_3'UTR	p.G162D	NM_003145	NP_003136	P43308	SSRB_HUMAN			6	565	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		162			Helical; (Potential).		B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Missense_Mutation	SNP	ENST00000295702.4	37	c.485G>A	CCDS1126.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250791	0.95305	.	.	ENSG00000163479	ENST00000295702;ENST00000480567	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	L	0.59436	1.845	0.80722	D	1	D	0.57257	0.979	P	0.58780	0.845	T	0.63251	-0.6679	9	0.38643	T	0.18	-15.6569	15.6578	0.77155	0.0:1.0:0.0:0.0	.	162	P43308	SSRB_HUMAN	D	162	.	ENSP00000295702:G162D	G	-	2	0	SSR2	154246022	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.548000	0.73896	2.767000	0.95098	0.655000	0.94253	GGC		PASS	0.517	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046172.2	NM_003145		6	348	6	348	---	---	---	---
CCT3	7203	broad.mit.edu	37	1	156280936	156280936	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:156280936G>C	ENST00000295688.3	-	12	1486	c.1206C>G	c.(1204-1206)ctC>ctG	p.L402L	CCT3_ENST00000368259.2_Silent_p.L364L|CCT3_ENST00000472765.2_Silent_p.L357L|CCT3_ENST00000368261.3_Silent_p.L357L	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	402					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.L402L(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GAGGGTCCAGGAGAACATTGC	0.532																																						uc001fol.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1204-1206)CTC>CTG		chaperonin containing TCP1, subunit 3 isoform a							76.0	72.0	73.0					1																	156280936		2203	4300	6503	SO:0001819	synonymous_variant	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156280936G>C	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1206C>G	1.37:g.156280936G>C						CCT3_uc001fom.1_Silent_p.L401L|CCT3_uc001fon.1_Silent_p.L364L|CCT3_uc010phj.1_Silent_p.L356L|CCT3_uc010phk.1_Silent_p.L356L|CCT3_uc010phl.1_Silent_p.L356L	p.L402L	NM_005998	NP_005989	P49368	TCPG_HUMAN			12	1426	-	Hepatocellular(266;0.158)		402					A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	c.1206C>G	CCDS1140.2																																																																																				PASS	0.532	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		23	139	23	139	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156509192	156509192	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:156509192G>C	ENST00000361170.2	-	25	3040	c.3030C>G	c.(3028-3030)ttC>ttG	p.F1010L	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1010	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.F1010L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGCTGTCTTGAACAGCTGGA	0.522																																						uc001fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(3028-3030)TTC>TTG		IQ motif containing GTPase activating protein 3							53.0	55.0	54.0					1																	156509192		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156509192G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3030C>G	1.37:g.156509192G>C	ENSP00000354451:p.Phe1010Leu						p.F1010L	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			25	3105	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1010			Ras-GAP.		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.3030C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135396	0.77662	.	.	ENSG00000183856	ENST00000361170	T	0.73363	-0.74	4.8	3.8	0.43715	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	M	0.73319	2.225	0.49213	D	0.999767	D	0.76494	0.999	D	0.80764	0.994	T	0.77466	-0.2577	10	0.36615	T	0.2	-20.5515	12.0237	0.53358	0.0991:0.0:0.9009:0.0	.	1010	Q86VI3	IQGA3_HUMAN	L	1010	ENSP00000354451:F1010L	ENSP00000354451:F1010L	F	-	3	2	IQGAP3	154775816	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.285000	0.43487	2.482000	0.83794	0.655000	0.94253	TTC		PASS	0.522	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		17	60	17	60	---	---	---	---
RRNAD1	51093	broad.mit.edu	37	1	156703852	156703852	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:156703852G>C	ENST00000368216.4	+	6	1318	c.688G>C	c.(688-690)Gac>Cac	p.D230H	RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	230						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.D230H(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TAGGTGGGTAGACCCCACAGC	0.607																																						uc001fpu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(688-690)GAC>CAC		hypothetical protein LOC51093 isoform 1							81.0	85.0	84.0					1																	156703852		2203	4300	6503	SO:0001583	missense	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156703852G>C	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.688G>C	1.37:g.156703852G>C	ENSP00000357199:p.Asp230His					C1orf66_uc001fpv.2_Intron	p.D230H	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN			6	1322	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		230					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.688G>C	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.227045	0.58668	.	.	ENSG00000143303	ENST00000368216;ENST00000519086	T	0.52057	0.68	5.06	4.14	0.48551	.	0.197461	0.52532	D	0.000069	T	0.50701	0.1631	M	0.77103	2.36	0.58432	D	0.999999	P	0.52463	0.953	P	0.59546	0.859	T	0.54166	-0.8334	10	0.42905	T	0.14	-9.9229	8.6402	0.33972	0.109:0.0:0.891:0.0	.	230	Q96FB5	RRNAD_HUMAN	H	230;209	ENSP00000357199:D230H	ENSP00000357199:D230H	D	+	1	0	RRNAD1	154970476	0.998000	0.40836	0.160000	0.22671	0.990000	0.78478	3.028000	0.49705	1.118000	0.41863	0.561000	0.74099	GAC		PASS	0.607	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		28	156	28	156	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157509064	157509064	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:157509064C>G	ENST00000361835.3	-	7	1371	c.1214G>C	c.(1213-1215)aGa>aCa	p.R405T	FCRL5_ENST00000356953.4_Missense_Mutation_p.R405T|FCRL5_ENST00000368189.3_Missense_Mutation_p.R405T|FCRL5_ENST00000368191.3_Missense_Mutation_p.R320T|FCRL5_ENST00000368190.3_Missense_Mutation_p.R405T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	405	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.R405T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGTGAACCTCTCTGGGCTTC	0.557																																						uc001fqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1213-1215)AGA>ACA		Fc receptor-like 5							82.0	76.0	78.0					1																	157509064		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157509064C>G	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1214G>C	1.37:g.157509064C>G	ENSP00000354691:p.Arg405Thr					FCRL5_uc009wsm.2_Missense_Mutation_p.R405T|FCRL5_uc010phv.1_Missense_Mutation_p.R405T|FCRL5_uc010phw.1_Missense_Mutation_p.R320T|FCRL5_uc001fqv.1_Missense_Mutation_p.R405T|FCRL5_uc010phx.1_Missense_Mutation_p.R156T	p.R405T	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			7	1372	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	405			Extracellular (Potential).|Ig-like C2-type 4.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1214G>C	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664885	0.47572	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0	3.04	0.0192	0.14120	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.213333	0.23815	N	0.044283	T	0.04998	0.0134	M	0.80332	2.49	0.09310	N	0.999998	P;P;P;D;D;D	0.65815	0.702;0.771;0.663;0.957;0.995;0.957	B;B;B;P;D;P	0.66497	0.441;0.429;0.234;0.828;0.944;0.828	T	0.23976	-1.0173	10	0.31617	T	0.26	.	5.5379	0.17021	0.0:0.5977:0.0:0.4023	.	436;320;405;405;405;405	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	T	405;405;405;320;405	ENSP00000354691:R405T;ENSP00000349434:R405T;ENSP00000357173:R405T;ENSP00000357174:R320T;ENSP00000357172:R405T	ENSP00000349434:R405T	R	-	2	0	FCRL5	155775688	0.004000	0.15560	0.005000	0.12908	0.380000	0.30137	-0.635000	0.05471	-0.100000	0.12241	-0.671000	0.03813	AGA		PASS	0.557	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		11	82	11	82	---	---	---	---
FCRL1	115350	broad.mit.edu	37	1	157771948	157771948	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:157771948G>A	ENST00000368176.3	-	5	710	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	FCRL1_ENST00000358292.3_Missense_Mutation_p.P215S|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.P215S	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	215	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P215S(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGGCCCTGGGAGCCCTGAGC	0.562																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2																			2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)	7						c.(643-645)CCC>TCC		Fc receptor-like 1 isoform 1 precursor							36.0	37.0	37.0					1																	157771948		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771948G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.643C>T	1.37:g.157771948G>A	ENSP00000357158:p.Pro215Ser					FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.P215S|FCRL1_uc001fri.2_Missense_Mutation_p.P215S|FCRL1_uc001frj.2_RNA	p.P215S	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	756	-	all_hematologic(112;0.0378)		215			Ig-like C2-type 3.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.643C>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	9.622	1.133986	0.21123	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.02763	4.17;4.17;4.17	4.86	-1.58	0.08479	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.507017	0.19877	N	0.104078	T	0.02610	0.0079	M	0.90425	3.115	0.09310	N	1	P;P;B	0.44429	0.835;0.73;0.31	P;P;B	0.45856	0.495;0.495;0.049	T	0.17684	-1.0361	9	.	.	.	.	3.8346	0.08888	0.2386:0.0:0.2593:0.5021	.	215;215;215	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	S	215	ENSP00000351039:P215S;ENSP00000357158:P215S;ENSP00000418130:P215S	.	P	-	1	0	FCRL1	156038572	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.561000	0.05957	-0.075000	0.12798	0.655000	0.94253	CCC		PASS	0.562	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		5	111	5	111	---	---	---	---
OR10K2	391107	broad.mit.edu	37	1	158389820	158389820	+	Silent	SNP	A	A	G	rs374115869		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:158389820A>G	ENST00000314902.2	-	1	836	c.837T>C	c.(835-837)acT>acC	p.T279T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T279T(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAGTTATAATAGTGTAGGATA	0.378																																						uc010pii.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(835-837)ACT>ACC		olfactory receptor, family 10, subfamily K,							92.0	94.0	94.0					1																	158389820		2203	4300	6503	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158389820A>G	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.837T>C	1.37:g.158389820A>G							p.T279T	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	837	-	all_hematologic(112;0.0378)		279			Helical; Name=7; (Potential).			Silent	SNP	ENST00000314902.2	37	c.837T>C	CCDS30896.1																																																																																				PASS	0.378	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		33	154	33	154	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158581092	158581092	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:158581092C>T	ENST00000368147.4	-	52	7402	c.7222G>A	c.(7222-7224)Gac>Aac	p.D2408N	SPTA1_ENST00000485680.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2408				GRSHLSGYDYVGFTNSYFGN -> VEAISLAMTTLASPIPT LATNKQLLVDRRKS (in Ref. 1; AAA60577/ AAA60994). {ECO:0000305}.	actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D2408N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAACGTAGTCATAGCCAGAG	0.473																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(7222-7224)GAC>AAC		spectrin, alpha, erythrocytic 1							85.0	87.0	86.0					1																	158581092		1920	4128	6048	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158581092C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7222G>A	1.37:g.158581092C>T	ENSP00000357129:p.Asp2408Asn						p.D2408N	NM_003126	NP_003117	P02549	SPTA1_HUMAN			52	7421	-	all_hematologic(112;0.0378)		2408	GRSHLSGYDYVGFTNSYFGN -> VEAISLAMTTLASPIPT LATNKQLLVDRRKS (in Ref. 1; AAA60577/ AAA60994).				Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.7222G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144283	0.57044	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	D;D	0.81908	-1.55;-1.55	5.58	4.66	0.58398	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	65.770100	0.00166	N	0.000009	D	0.89255	0.6663	M	0.73430	2.235	0.40352	D	0.979145	D	0.67145	0.996	D	0.71870	0.975	T	0.75202	-0.3401	10	0.87932	D	0	.	12.303	0.54884	0.0:0.9175:0.0:0.0825	.	2408	P02549	SPTA1_HUMAN	N	2408;2405	ENSP00000357130:D2408N;ENSP00000357129:D2405N	ENSP00000357129:D2405N	D	-	1	0	SPTA1	156847716	1.000000	0.71417	0.863000	0.33907	0.010000	0.07245	4.475000	0.60210	1.481000	0.48307	0.655000	0.94253	GAC		PASS	0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		11	111	11	111	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158612261	158612261	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:158612261G>C	ENST00000368147.4	-	33	4857	c.4677C>G	c.(4675-4677)atC>atG	p.I1559M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1559					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.I1559M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCCCAGGTTGATGACGCCAT	0.463																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4675-4677)ATC>ATG		spectrin, alpha, erythrocytic 1							99.0	100.0	100.0					1																	158612261		1990	4171	6161	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612261G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4677C>G	1.37:g.158612261G>C	ENSP00000357129:p.Ile1559Met						p.I1559M	NM_003126	NP_003117	P02549	SPTA1_HUMAN			33	4876	-	all_hematologic(112;0.0378)		1559			Spectrin 15.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4677C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.143	1.014355	0.19277	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49139	0.79;0.79	5.26	2.23	0.28157	.	0.571040	0.13212	N	0.405085	T	0.26774	0.0655	M	0.69823	2.125	0.09310	N	1	B	0.29341	0.242	B	0.37833	0.259	T	0.42816	-0.9429	10	0.44086	T	0.13	.	2.2356	0.04007	0.1767:0.1508:0.5171:0.1554	.	1559	P02549	SPTA1_HUMAN	M	1559	ENSP00000357130:I1559M;ENSP00000357129:I1559M	ENSP00000357129:I1559M	I	-	3	3	SPTA1	156878885	0.031000	0.19500	0.002000	0.10522	0.004000	0.04260	0.321000	0.19558	0.305000	0.22832	0.655000	0.94253	ATC		PASS	0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		25	189	25	189	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158641934	158641934	+	Missense_Mutation	SNP	C	C	T	rs372937123		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:158641934C>T	ENST00000368147.4	-	11	1583	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	468					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R468H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGACGATGACGCTCGTCCCA	0.438																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1402-1404)CGT>CAT		spectrin, alpha, erythrocytic 1		C	HIS/ARG	1,3921		0,1,1960	111.0	107.0	108.0		1403	4.1	0.1	1		108	0,8320		0,0,4160	no	missense	SPTA1	NM_003126.2	29	0,1,6120	TT,TC,CC		0.0,0.0255,0.0082	possibly-damaging	468/2420	158641934	1,12241	1961	4160	6121	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641934C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1403G>A	1.37:g.158641934C>T	ENSP00000357129:p.Arg468His						p.R468H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			11	1602	-	all_hematologic(112;0.0378)		468			Spectrin 5.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1403G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592462	0.86953	2.55E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61392	0.11;0.11	5.0	4.09	0.47781	.	0.265080	0.20210	N	0.096925	T	0.67832	0.2935	M	0.86178	2.8	0.43868	D	0.996474	D	0.61697	0.99	P	0.62435	0.902	T	0.72906	-0.4150	10	0.54805	T	0.06	.	12.173	0.54169	0.0:0.9174:0.0:0.0826	.	468	P02549	SPTA1_HUMAN	H	468	ENSP00000357130:R468H;ENSP00000357129:R468H	ENSP00000357129:R468H	R	-	2	0	SPTA1	156908558	1.000000	0.71417	0.108000	0.21378	0.069000	0.16628	4.128000	0.57951	1.335000	0.45486	0.655000	0.94253	CGT		PASS	0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		15	133	15	133	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687704	158687704	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:158687704A>T	ENST00000368146.1	-	1	249	c.250T>A	c.(250-252)Ttt>Att	p.F84I	OR6K3_ENST00000368145.1_Missense_Mutation_p.F68I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F84I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ATCTCCAGAAAGGAAAATATA	0.408																																						uc010pip.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(250-252)TTT>ATT		olfactory receptor, family 6, subfamily K,							134.0	144.0	141.0					1																	158687704		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687704A>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.250T>A	1.37:g.158687704A>T	ENSP00000357128:p.Phe84Ile						p.F84I	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	250	-	all_hematologic(112;0.0378)		84			Helical; Name=2; (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.250T>A		.	.	.	.	.	.	.	.	.	.	A	16.09	3.024291	0.54683	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00995	5.46;5.46	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01222	0.0040	L	0.59436	1.845	0.09310	N	1	D	0.58268	0.982	P	0.58454	0.839	T	0.51220	-0.8733	9	0.72032	D	0.01	.	7.4218	0.27075	0.8985:0.0:0.1015:0.0	.	84	Q8NGY3	OR6K3_HUMAN	I	68;84	ENSP00000357127:F68I;ENSP00000357128:F84I	ENSP00000357127:F68I	F	-	1	0	OR6K3	156954328	0.000000	0.05858	0.106000	0.21319	0.900000	0.52787	0.180000	0.16860	1.830000	0.53286	0.377000	0.23210	TTT		PASS	0.408	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				58	423	58	423	---	---	---	---
FCER1A	2205	broad.mit.edu	37	1	159277627	159277627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:159277627C>T	ENST00000368115.1	+	6	778	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	FCER1A_ENST00000368114.1_Nonsense_Mutation_p.Q194*	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	227					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.Q227*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TATCTCAACTCAGCAGCAGGT	0.423																																						uc001ftq.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(679-681)CAG>TAG		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						120.0	111.0	114.0					1																	159277627		2203	4300	6503	SO:0001587	stop_gained	2205					integral to plasma membrane		g.chr1:159277627C>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.679C>T	1.37:g.159277627C>T	ENSP00000357097:p.Gln227*						p.Q227*	NM_002001	NP_001992	P12319	FCERA_HUMAN			6	778	+	all_hematologic(112;0.0429)		227			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000368115.1	37	c.679C>T	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270385	0.80469	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	.	.	.	5.37	-1.68	0.08212	.	4.297200	0.00481	N	0.000128	.	.	.	.	.	.	0.54753	D	0.999983	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	4.1714	0.10331	0.2426:0.3524:0.3296:0.0753	.	.	.	.	X	227;194	.	ENSP00000357096:Q194X	Q	+	1	0	FCER1A	157544251	0.000000	0.05858	0.000000	0.03702	0.685000	0.39939	-1.812000	0.01726	-0.131000	0.11578	0.650000	0.86243	CAG		PASS	0.423	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		5	266	5	266	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160104397	160104397	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:160104397C>G	ENST00000361216.3	+	14	2040	c.1951C>G	c.(1951-1953)Caa>Gaa	p.Q651E	ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q651E	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	651					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.Q651E(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCCATGAGTCAAGTCAACCC	0.557																																						uc001fvc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(1951-1953)CAA>GAA		Na+/K+ -ATPase alpha 2 subunit proprotein							116.0	95.0	102.0					1																	160104397		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160104397C>G	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1951C>G	1.37:g.160104397C>G	ENSP00000354490:p.Gln651Glu					ATP1A2_uc001fvb.2_Missense_Mutation_p.Q651E|ATP1A2_uc001fvd.2_Missense_Mutation_p.Q387E	p.Q651E	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		14	2083	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		651			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.1951C>G	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674581	0.29693	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.94138	-3.36;-3.36	5.0	5.0	0.66597	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	N	0.03608	-0.345	0.50171	D	0.999859	B;B	0.02656	0.0;0.0	B;B	0.10450	0.001;0.005	T	0.72431	-0.4296	10	0.16420	T	0.52	.	17.4433	0.87572	0.0:1.0:0.0:0.0	.	551;651	F5GXJ7;P50993	.;AT1A2_HUMAN	E	651;651;354	ENSP00000354490:Q651E;ENSP00000376066:Q651E	ENSP00000354490:Q651E	Q	+	1	0	ATP1A2	158371021	0.997000	0.39634	0.995000	0.50966	0.971000	0.66376	3.235000	0.51328	2.467000	0.83353	0.561000	0.74099	CAA		PASS	0.557	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		14	150	14	150	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160765981	160765981	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:160765981G>A	ENST00000263285.6	+	1	34	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	LY9_ENST00000392203.4_Missense_Mutation_p.V2M|LY9_ENST00000368041.2_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.V2M|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368037.5_Missense_Mutation_p.V2M|LY9_ENST00000368039.2_Missense_Mutation_p.V2M			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	2					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V2M(2)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GATCATCATGGTGGCACCAAA	0.488																																						uc001fwu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4-6)GTG>ATG		lymphocyte antigen 9 isoform a							136.0	147.0	143.0					1																	160765981		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160765981G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.4G>A	1.37:g.160765981G>A	ENSP00000263285:p.Val2Met					LY9_uc001fwt.2_Missense_Mutation_p.V2M|LY9_uc010pjs.1_Missense_Mutation_p.V2M|LY9_uc001fwv.2_Missense_Mutation_p.V2M|LY9_uc001fww.2_Missense_Mutation_p.V2M|LY9_uc001fwx.2_Missense_Mutation_p.V2M	p.V2M	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		1	54	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		2					A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.4G>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562963	0.45694	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039	T;T;T	0.36699	1.33;1.24;1.38	3.14	3.14	0.36123	.	.	.	.	.	T	0.24851	0.0603	L	0.36672	1.1	0.80722	D	1	P;P;P;P;D	0.56521	0.875;0.875;0.924;0.875;0.976	B;B;P;B;P	0.50708	0.36;0.36;0.563;0.36;0.648	T	0.05386	-1.0888	9	0.72032	D	0.01	-1.6381	10.0142	0.42006	0.0:0.0:1.0:0.0	.	2;2;2;2;2	B4E0J5;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;LY9_HUMAN;.	M	2	ENSP00000342921:V2M;ENSP00000263285:V2M;ENSP00000357018:V2M	ENSP00000263285:V2M	V	+	1	0	LY9	159032605	0.825000	0.29262	0.704000	0.30370	0.014000	0.08584	1.652000	0.37313	2.023000	0.59567	0.557000	0.71058	GTG		PASS	0.488	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		25	232	25	232	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160784311	160784311	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:160784311G>C	ENST00000263285.6	+	4	862	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	LY9_ENST00000392203.4_Missense_Mutation_p.E278Q|LY9_ENST00000368041.2_Missense_Mutation_p.E238Q|LY9_ENST00000341032.4_Missense_Mutation_p.E278Q|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368037.5_Missense_Mutation_p.E278Q|LY9_ENST00000471816.1_3'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	278	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E278Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCGGGACACAGAGAAGGTTGT	0.542																																						uc001fwu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(832-834)GAG>CAG		lymphocyte antigen 9 isoform a							100.0	94.0	96.0					1																	160784311		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160784311G>C	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.832G>C	1.37:g.160784311G>C	ENSP00000263285:p.Glu278Gln					LY9_uc010pjs.1_Missense_Mutation_p.E278Q|LY9_uc001fwv.2_Missense_Mutation_p.E278Q|LY9_uc001fww.2_Missense_Mutation_p.E278Q|LY9_uc001fwx.2_Missense_Mutation_p.E278Q|LY9_uc001fwy.1_Missense_Mutation_p.E180Q|LY9_uc001fwz.2_5'UTR	p.E278Q	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	882	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		278			Extracellular (Potential).|Ig-like V-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.832G>C	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212073	0.39102	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.01484	4.84;4.84	4.04	1.03	0.20045	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01558	0.0050	L	0.59436	1.845	0.09310	N	0.999996	P;D;P;D;D;D	0.57257	0.919;0.958;0.718;0.979;0.975;0.958	B;P;B;P;P;P	0.53861	0.395;0.549;0.218;0.679;0.736;0.549	T	0.47699	-0.9097	9	0.54805	T	0.06	-2.3739	5.8994	0.18957	0.3784:0.0:0.6216:0.0	.	278;238;238;278;278;278	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	Q	278;278;278;278;238;238;180	ENSP00000342921:E278Q;ENSP00000263285:E278Q	ENSP00000263285:E278Q	E	+	1	0	LY9	159050935	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.714000	0.05002	0.076000	0.16826	0.563000	0.77884	GAG		PASS	0.542	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		16	164	16	164	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160788107	160788107	+	Missense_Mutation	SNP	G	G	C	rs375643784	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:160788107G>C	ENST00000263285.6	+	6	1472	c.1442G>C	c.(1441-1443)cGg>cCg	p.R481P	LY9_ENST00000392203.4_Missense_Mutation_p.R391P|LY9_ENST00000368041.2_Missense_Mutation_p.R351P|LY9_ENST00000341032.4_Missense_Mutation_p.R391P|LY9_ENST00000368040.1_Missense_Mutation_p.R133P|LY9_ENST00000368037.5_Missense_Mutation_p.R481P			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	481					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R481P(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGAAAAGGACGGTGTGAGTTT	0.532																																						uc001fwu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1441-1443)CGG>CCG		lymphocyte antigen 9 isoform a							247.0	230.0	236.0					1																	160788107		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160788107G>C	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1442G>C	1.37:g.160788107G>C	ENSP00000263285:p.Arg481Pro					LY9_uc001fwv.2_Missense_Mutation_p.R481P|LY9_uc001fww.2_Missense_Mutation_p.R391P|LY9_uc001fwx.2_Missense_Mutation_p.R391P|LY9_uc001fwy.1_Missense_Mutation_p.R293P|LY9_uc001fwz.2_Missense_Mutation_p.R133P	p.R481P	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	1492	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		481			Cytoplasmic (Potential).		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1442G>C	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	4.178	0.031550	0.08101	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036;ENST00000368035	T;T;T;T	0.37584	1.19;2.41;1.27;2.41	3.46	-6.92	0.01644	.	7739.210000	0.00166	N	0.000000	T	0.07683	0.0193	L	0.33485	1.01	0.09310	N	1	B;B;B;B;B;B	0.13594	0.0;0.003;0.003;0.003;0.008;0.008	B;B;B;B;B;B	0.12837	0.0;0.003;0.001;0.001;0.008;0.006	T	0.05767	-1.0865	10	0.56958	D	0.05	6.6324	2.0556	0.03580	0.3432:0.2201:0.3273:0.1094	.	133;441;351;391;481;481	Q5VYI1;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	P	481;391;133;481;351;441;293;133	ENSP00000342921:R391P;ENSP00000357019:R133P;ENSP00000263285:R481P;ENSP00000357014:R133P	ENSP00000263285:R481P	R	+	2	0	LY9	159054731	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-2.882000	0.00714	-2.538000	0.00487	-1.155000	0.01812	CGG		PASS	0.532	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		23	165	23	165	---	---	---	---
CD244	51744	broad.mit.edu	37	1	160811267	160811267	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:160811267C>G	ENST00000368033.3	-	3	485	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	CD244_ENST00000368034.4_Missense_Mutation_p.E130Q|CD244_ENST00000322302.7_Intron|CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368032.2_Missense_Mutation_p.E130Q			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	135	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E130*(2)|p.E135*(2)|p.E130Q(1)|p.E135Q(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGGGGTTTCTCAACTTTATCT	0.507																																						uc009wtq.2																			6	Substitution - Nonsense(4)|Substitution - Missense(2)		lung(6)	ovary(1)	1						c.(403-405)GAG>CAG		CD244 natural killer cell receptor 2B4							52.0	56.0	55.0					1																	160811267		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811267C>G	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.403G>C	1.37:g.160811267C>G	ENSP00000357012:p.Glu135Gln					CD244_uc001fxa.2_Missense_Mutation_p.E130Q|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Intron|CD244_uc010pjt.1_Intron	p.E135Q	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	581	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		135			Extracellular (Potential).|Ig-like 2.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.403G>C	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001561	0.35320	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000368032	T;T;T	0.38240	1.15;1.15;1.15	4.73	-0.21	0.13176	Immunoglobulin-like (1);	0.966374	0.08527	N	0.932635	T	0.14098	0.0341	L	0.43152	1.355	0.09310	N	1	P;P	0.48764	0.915;0.824	P;P	0.46510	0.519;0.474	T	0.10382	-1.0632	10	0.28530	T	0.3	0.5547	3.9219	0.09247	0.0:0.3986:0.239:0.3624	.	135;130	Q9BZW8;Q9BZW8-2	CD244_HUMAN;.	Q	130;135;130	ENSP00000357013:E130Q;ENSP00000357012:E135Q;ENSP00000357011:E130Q	ENSP00000357011:E130Q	E	-	1	0	CD244	159077891	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.109000	0.10840	0.140000	0.18849	0.655000	0.94253	GAG		PASS	0.507	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		4	119	4	119	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161518423	161518423	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:161518423C>T	ENST00000436743.1	-	4	261	c.107G>A	c.(106-108)aGg>aAg	p.R36K	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000367969.3_Missense_Mutation_p.R72K|FCGR3A_ENST00000443193.1_Missense_Mutation_p.R71K|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R36K|RP11-25K21.6_ENST00000537821.2_RNA	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	36	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R72K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCGAGCACCCTGTACCATTG	0.542																																						uc001gat.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(106-108)AGG>AAG		Fc fragment of IgG, low affinity IIIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						158.0	149.0	152.0					1																	161518423		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518423C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.107G>A	1.37:g.161518423C>T	ENSP00000416607:p.Arg36Lys					FCGR3A_uc001gar.2_Missense_Mutation_p.R72K|FCGR3A_uc001gas.2_Missense_Mutation_p.R71K|FCGR3A_uc009wuh.2_Missense_Mutation_p.R35K|FCGR3A_uc009wui.2_Missense_Mutation_p.R36K	p.R36K	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	244	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		36			Ig-like C2-type 1.|Extracellular (Potential).		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.107G>A	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.39|16.39	3.108912|3.108912	0.56398|0.56398	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	.|T;T;T;T;T;T	.|0.12774	.|2.65;2.65;2.65;2.65;2.65;2.65	4.43|4.43	2.56|2.56	0.30785|0.30785	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.630492	.|0.14320	.|N	.|0.327075	T|T	0.12008|0.12008	0.0292|0.0292	L|L	0.55834|0.55834	1.745|1.745	0.09310|0.09310	N|N	1|1	.|D;D	.|0.59767	.|0.986;0.986	.|P;P	.|0.59948	.|0.826;0.866	T|T	0.08806|0.08806	-1.0704|-1.0704	5|10	.|0.39692	.|T	.|0.17	.|.	7.722|7.722	0.28738|0.28738	0.0:0.835:0.0:0.165|0.0:0.835:0.0:0.165	.|.	.|36;71	.|P08637;E9PG94	.|FCG3A_HUMAN;.	R|K	53|72;71;36;36;36;35	.|ENSP00000356946:R72K;ENSP00000392047:R71K;ENSP00000416607:R36K;ENSP00000356944:R36K;ENSP00000444971:R36K;ENSP00000396567:R35K	.|ENSP00000356944:R36K	G|R	-|-	1|2	0|0	FCGR3A|FCGR3A	159785047|159785047	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.020000|0.020000	0.10135|0.10135	0.744000|0.744000	0.26245|0.26245	0.620000|0.620000	0.30215|0.30215	0.591000|0.591000	0.81541|0.81541	GGG|AGG		PASS	0.542	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		23	394	23	394	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167097043	167097043	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:167097043C>T	ENST00000361200.2	+	6	2841	c.2675C>T	c.(2674-2676)gCc>gTc	p.A892V	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.A892V|DUSP27_ENST00000271385.5_Missense_Mutation_p.A892V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	892	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A892V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACTGACAGTGCCATAGGGAGC	0.517																																						uc001geb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2674-2676)GCC>GTC		dual specificity phosphatase 27							104.0	89.0	94.0					1																	167097043		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097043C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2675C>T	1.37:g.167097043C>T	ENSP00000354483:p.Ala892Val						p.A892V	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2675	+			892			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2675C>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088245	0.36855	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03386	3.95;3.95;3.95	5.4	5.4	0.78164	.	0.956606	0.08611	N	0.920030	T	0.01976	0.0062	M	0.63428	1.95	0.29214	N	0.874401	B	0.22276	0.067	B	0.12837	0.008	T	0.43605	-0.9381	10	0.22706	T	0.39	-31.3622	9.2473	0.37534	0.0:0.7994:0.0:0.2006	.	892	Q5VZP5	DUS27_HUMAN	V	892	ENSP00000354483:A892V;ENSP00000271385:A892V;ENSP00000404874:A892V	ENSP00000271385:A892V	A	+	2	0	DUSP27	165363667	0.188000	0.23250	0.996000	0.52242	0.896000	0.52359	1.429000	0.34903	2.499000	0.84300	0.643000	0.83706	GCC		PASS	0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		25	84	25	84	---	---	---	---
DCAF6	55827	broad.mit.edu	37	1	167962587	167962587	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:167962587G>A	ENST00000312263.6	+	7	1016	c.812G>A	c.(811-813)aGt>aAt	p.S271N	DCAF6_ENST00000367843.3_Missense_Mutation_p.S271N|DCAF6_ENST00000432587.2_Missense_Mutation_p.S240N|DCAF6_ENST00000367840.3_Missense_Mutation_p.S271N	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	271					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.S271N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						ATTCTCGTTAGTTACTCTTCA	0.398																																						uc001gew.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(811-813)AGT>AAT		IQ motif and WD repeats 1 isoform b							107.0	103.0	104.0					1																	167962587		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167962587G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.812G>A	1.37:g.167962587G>A	ENSP00000311949:p.Ser271Asn					DCAF6_uc001gev.2_Missense_Mutation_p.S271N|DCAF6_uc001gex.2_Missense_Mutation_p.S271N|DCAF6_uc010plk.1_Missense_Mutation_p.S240N|DCAF6_uc001gey.2_Missense_Mutation_p.S124N	p.S271N	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			7	1054	+			271			WD 5.		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.812G>A	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997382	0.93227	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	L	0.37561	1.115	0.41453	D	0.987996	D;D;P;D	0.76494	0.993;0.997;0.789;0.999	D;D;P;D	0.83275	0.968;0.99;0.63;0.996	T	0.80863	-0.1192	9	0.35671	T	0.21	.	18.9505	0.92640	0.0:0.0:1.0:0.0	.	240;271;271;271	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	N	271;240;271;271	ENSP00000356817:S271N;ENSP00000396238:S240N;ENSP00000311949:S271N;ENSP00000356814:S271N	ENSP00000311949:S271N	S	+	2	0	DCAF6	166229211	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.119000	0.94362	2.547000	0.85894	0.454000	0.30748	AGT		PASS	0.398	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		43	125	43	125	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169580801	169580801	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:169580801C>G	ENST00000263686.6	-	7	1113	c.1076G>C	c.(1075-1077)aGa>aCa	p.R359T	SELP_ENST00000367791.2_Intron|SELP_ENST00000367792.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.R297T|SELP_ENST00000367794.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.R297T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	359	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.R359T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GCCCCTCACTCTGTAGCCGGG	0.542																																						uc001ggi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1075-1077)AGA>ACA		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						104.0	102.0	103.0					1																	169580801		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169580801C>G	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1076G>C	1.37:g.169580801C>G	ENSP00000263686:p.Arg359Thr					SELP_uc001ggh.2_Missense_Mutation_p.R194T|SELP_uc009wvr.2_Missense_Mutation_p.R359T	p.R359T	NM_003005	NP_002996	P16109	LYAM3_HUMAN			7	1141	-	all_hematologic(923;0.208)		359			Sushi 3.|Extracellular (Potential).		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1076G>C	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	0.122	-1.124495	0.01770	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367788	T;T;T	0.65549	-0.16;-0.16;-0.16	5.22	-1.6	0.08426	Complement control module (2);Sushi/SCR/CCP (3);	0.747040	0.11634	N	0.544516	T	0.38719	0.1051	L	0.41079	1.255	0.09310	N	1	D;P;P	0.58268	0.982;0.896;0.589	P;P;B	0.59825	0.864;0.673;0.211	T	0.21655	-1.0239	10	0.22109	T	0.4	2.1045	1.8521	0.03171	0.1237:0.328:0.1382:0.4101	.	359;359;359	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	T	359;358;359;359;297;297	ENSP00000263686:R359T;ENSP00000356767:R297T;ENSP00000356762:R297T	ENSP00000263686:R359T	R	-	2	0	SELP	167847425	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.403000	0.00239	-0.676000	0.05238	-0.140000	0.14226	AGA		PASS	0.542	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		21	177	21	177	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	169953797	169953797	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:169953797C>T	ENST00000361580.2	-	12	1546	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	KIFAP3_ENST00000540905.1_Missense_Mutation_p.R142Q|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R400Q|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R396Q|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R362Q	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	440					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.R440Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGTCAATTCGTTCATCTGA	0.368																																						uc001ggv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1318-1320)CGA>CAA		kinesin-associated protein 3							99.0	94.0	96.0					1																	169953797		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169953797C>T	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1319G>A	1.37:g.169953797C>T	ENSP00000354560:p.Arg440Gln					KIFAP3_uc010plx.1_Missense_Mutation_p.R142Q	p.R440Q	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			12	1590	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		440					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.1319G>A	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911896	0.52439	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.26	5.26	0.73747	Armadillo-like helical (1);Armadillo-type fold (1);	0.322570	0.32952	N	0.005457	T	0.24392	0.0591	L	0.38175	1.15	0.48135	D	0.999594	B	0.30511	0.282	B	0.21546	0.035	T	0.05468	-1.0883	9	.	.	.	-8.8666	18.5091	0.90909	0.0:1.0:0.0:0.0	.	440	Q92845	KIFA3_HUMAN	Q	440;400;396;142;362	ENSP00000354560:R440Q;ENSP00000356739:R400Q;ENSP00000356741:R396Q;ENSP00000442712:R142Q;ENSP00000444622:R362Q	.	R	-	2	0	KIFAP3	168220421	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	2.957000	0.49137	2.451000	0.82905	0.655000	0.94253	CGA		PASS	0.368	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		18	158	18	158	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	170024510	170024510	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:170024510C>T	ENST00000361580.2	-	2	327	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367765.1_5'UTR|KIFAP3_ENST00000367767.1_Intron|KIFAP3_ENST00000538366.1_5'UTR	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	34					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.E34K(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGTAGCTTCCACTTCATAG	0.348																																						uc001ggv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(100-102)GAA>AAA		kinesin-associated protein 3							101.0	97.0	98.0					1																	170024510		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170024510C>T	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.100G>A	1.37:g.170024510C>T	ENSP00000354560:p.Glu34Lys					KIFAP3_uc010ply.1_5'UTR|KIFAP3_uc001ggw.1_Intron	p.E34K	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			2	371	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		34					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.100G>A	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696442	0.88830	.	.	ENSG00000075945	ENST00000361580	T	0.56941	0.43	5.19	5.19	0.71726	.	0.048067	0.85682	D	0.000000	T	0.69351	0.3101	M	0.80982	2.52	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.71741	-0.4501	9	.	.	.	-21.1403	18.318	0.90227	0.0:1.0:0.0:0.0	.	34	Q92845	KIFA3_HUMAN	K	34	ENSP00000354560:E34K	.	E	-	1	0	KIFAP3	168291134	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.647000	0.67923	2.422000	0.82143	0.591000	0.81541	GAA		PASS	0.348	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		18	137	18	137	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171486904	171486904	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:171486904G>C	ENST00000338920.4	+	6	932	c.695G>C	c.(694-696)gGa>gCa	p.G232A	PRRC2C_ENST00000367742.3_Missense_Mutation_p.G234A|PRRC2C_ENST00000426496.2_Missense_Mutation_p.G232A|RNU6-773P_ENST00000364256.1_RNA|PRRC2C_ENST00000392078.3_Missense_Mutation_p.G234A|PRRC2C_ENST00000476522.1_3'UTR	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	232					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.G234A(2)									AAACTGAATGGACAGCAGGCT	0.453																																						uc010pmg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(694-696)GGA>GCA		HBxAg transactivated protein 2							84.0	80.0	82.0					1																	171486904		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171486904G>C	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.695G>C	1.37:g.171486904G>C	ENSP00000343629:p.Gly232Ala					BAT2L2_uc001ghr.1_Missense_Mutation_p.G234A	p.G232A	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			6	961	+			232					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.695G>C	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689225	0.48097	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920	T;T;T;T	0.02158	4.43;4.44;4.42;4.42	5.38	5.38	0.77491	.	0.000000	0.45867	D	0.000325	T	0.08268	0.0206	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.11470	-1.0586	10	0.51188	T	0.08	.	19.1382	0.93436	0.0:0.0:1.0:0.0	.	232;234	Q9Y520-4;E7EPN9	.;.	A	234;232;232;234;232	ENSP00000375928:G234A;ENSP00000410219:G232A;ENSP00000356716:G234A;ENSP00000343629:G232A	ENSP00000343629:G232A	G	+	2	0	PRRC2C	169753528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.175000	0.89684	2.507000	0.84556	0.655000	0.94253	GGA		PASS	0.453	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		15	70	15	70	---	---	---	---
C1orf105	92346	broad.mit.edu	37	1	172417620	172417620	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:172417620G>A	ENST00000367727.4	+	3	345	c.147G>A	c.(145-147)aaG>aaA	p.K49K		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	49								p.K49K(1)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTTCATCCAAGAAGAATATGA	0.358																																						uc001gik.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(145-147)AAG>AAA		hypothetical protein LOC92346							175.0	174.0	174.0					1																	172417620		2202	4299	6501	SO:0001819	synonymous_variant	92346							g.chr1:172417620G>A	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.147G>A	1.37:g.172417620G>A							p.K49K	NM_139240	NP_640333	O95561	CA105_HUMAN			3	343	+			49					Q8IY02	Silent	SNP	ENST00000367727.4	37	c.147G>A	CCDS1301.1																																																																																				PASS	0.358	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240		76	198	76	198	---	---	---	---
TNFSF18	8995	broad.mit.edu	37	1	173020013	173020013	+	Silent	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:173020013A>G	ENST00000404377.3	-	1	90	c.90T>C	c.(88-90)aaT>aaC	p.N30N	TNFSF18_ENST00000239468.2_Silent_p.N8N|RP1-15D23.2_ENST00000432694.2_lincRNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	30					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.N8N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TTAAAGGCATATTTTCCAAGT	0.398																																						uc001giu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(88-90)AAT>AAC		tumor necrosis factor (ligand) superfamily,							81.0	78.0	79.0					1																	173020013		2203	4300	6503	SO:0001819	synonymous_variant	8995				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr1:173020013A>G	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"""Tumor necrosis factor (ligand) superfamily"""	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.90T>C	1.37:g.173020013A>G							p.N30N	NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN			1	91	-			30			Cytoplasmic (Potential).		A9IQG8|O95852|Q6ISV1	Silent	SNP	ENST00000404377.3	37	c.90T>C	CCDS1305.2																																																																																				PASS	0.398	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092		14	89	14	89	---	---	---	---
KLHL20	27252	broad.mit.edu	37	1	173735424	173735424	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:173735424G>C	ENST00000209884.4	+	8	1427	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	KLHL20_ENST00000546011.1_Missense_Mutation_p.E242Q	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	431					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.E431Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAACATTGTTGAGAGGTGATC	0.433																																					GBM(159;862 2695 6559 23041)	uc001gjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1291-1293)GAG>CAG		kelch-like 20							225.0	213.0	217.0					1																	173735424		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173735424G>C	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1291G>C	1.37:g.173735424G>C	ENSP00000209884:p.Glu431Gln					KLHL20_uc010pmr.1_Missense_Mutation_p.E242Q|KLHL20_uc009wwf.2_Missense_Mutation_p.E413Q	p.E431Q	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			8	1470	+			431			Kelch 3.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1291G>C	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808607	0.90707	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	D;D	0.84370	-1.84;-1.84	5.6	5.6	0.85130	Galactose oxidase, beta-propeller (1);	0.045429	0.85682	D	0.000000	D	0.94401	0.8199	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.95434	0.8519	10	0.87932	D	0	.	18.3892	0.90477	0.0:0.0:1.0:0.0	.	242;431	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	Q	242;431	ENSP00000443121:E242Q;ENSP00000209884:E431Q	ENSP00000209884:E431Q	E	+	1	0	KLHL20	172002047	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.652000	0.98499	2.632000	0.89209	0.650000	0.86243	GAG		PASS	0.433	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		39	344	39	344	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175375563	175375563	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:175375563C>A	ENST00000367674.2	-	3	996	c.288G>T	c.(286-288)gaG>gaT	p.E96D	TNR_ENST00000263525.2_Missense_Mutation_p.E96D			Q92752	TENR_HUMAN	tenascin R	96					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.E96D(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGCCAGAGTCTCGTCTTCTG	0.547																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(286-288)GAG>GAT		tenascin R precursor							199.0	165.0	176.0					1																	175375563		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375563C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.288G>T	1.37:g.175375563C>A	ENSP00000356646:p.Glu96Asp					TNR_uc009wwu.1_Missense_Mutation_p.E96D|TNR_uc010pmz.1_Missense_Mutation_p.E96D	p.E96D	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	369	-	Renal(580;0.146)		96					C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.288G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	2.454	-0.325609	0.05350	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.27104	1.69;1.69	5.35	2.4	0.29515	.	0.406608	0.27504	N	0.019072	T	0.16727	0.0402	L	0.46157	1.445	0.09310	N	0.999992	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.0	T	0.34104	-0.9842	10	0.09843	T	0.71	.	5.5288	0.16972	0.1175:0.6352:0.1549:0.0924	.	96;96	B4DIX8;Q92752	.;TENR_HUMAN	D	96	ENSP00000356646:E96D;ENSP00000263525:E96D	ENSP00000263525:E96D	E	-	3	2	TNR	173642186	0.020000	0.18652	0.060000	0.19600	0.164000	0.22412	0.304000	0.19228	0.223000	0.20920	0.561000	0.74099	GAG		PASS	0.547	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		20	189	20	189	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176915139	176915139	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:176915139G>C	ENST00000367654.3	-	13	2407	c.2196C>G	c.(2194-2196)ctC>ctG	p.L732L	ASTN1_ENST00000424564.2_Silent_p.L724L|ASTN1_ENST00000361833.2_Silent_p.L724L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.L724L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	732					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.L724L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCCCCAAAGAGGGTCTGGT	0.507																																						uc001glc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2170-2172)CTC>CTG		astrotactin isoform 1							118.0	116.0	117.0					1																	176915139		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915139G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2196C>G	1.37:g.176915139G>C						ASTN1_uc001glb.1_Silent_p.L724L|ASTN1_uc001gld.1_Silent_p.L724L|ASTN1_uc009wwx.1_Silent_p.L724L	p.L724L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			13	2384	-			732					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2172C>G																																																																																					PASS	0.507	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		27	289	27	289	---	---	---	---
FAM20B	9917	broad.mit.edu	37	1	179033588	179033588	+	Missense_Mutation	SNP	G	G	A	rs371494390		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:179033588G>A	ENST00000263733.4	+	6	1231	c.895G>A	c.(895-897)Gat>Aat	p.D299N		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	299						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.D299N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CTTTCAAGATGATGAAGGCGC	0.483																																						uc001gmc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(895-897)GAT>AAT		hypothetical protein LOC9917 precursor		G	ASN/ASP	0,4406		0,0,2203	95.0	85.0	89.0		895	5.9	1.0	1		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM20B	NM_014864.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	299/410	179033588	1,13005	2203	4300	6503	SO:0001583	missense	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179033588G>A	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.895G>A	1.37:g.179033588G>A	ENSP00000263733:p.Asp299Asn						p.D299N	NM_014864	NP_055679	O75063	XYLK_HUMAN			6	1188	+			299			Lumenal (Potential).		Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	c.895G>A	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747360	0.89663	0.0	1.16E-4	ENSG00000116199	ENST00000263733	T	0.76316	-1.01	5.91	5.91	0.95273	.	0.043684	0.85682	D	0.000000	T	0.81250	0.4783	L	0.35414	1.06	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.72301	-0.4334	10	0.02654	T	1	-46.0315	20.2985	0.98592	0.0:0.0:1.0:0.0	.	299	O75063	XYLK_HUMAN	N	299	ENSP00000263733:D299N	ENSP00000263733:D299N	D	+	1	0	FAM20B	177300211	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	GAT		PASS	0.483	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		14	89	14	89	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179078431	179078431	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:179078431C>T	ENST00000502732.1	-	12	2174	c.1971G>A	c.(1969-1971)atG>atA	p.M657I	ABL2_ENST00000507173.1_Missense_Mutation_p.M636I|ABL2_ENST00000504405.1_Missense_Mutation_p.M621I|ABL2_ENST00000511413.1_Missense_Mutation_p.M657I|ABL2_ENST00000367623.4_Missense_Mutation_p.M636I|ABL2_ENST00000344730.3_Missense_Mutation_p.M642I|ABL2_ENST00000408940.3_Missense_Mutation_p.M621I|ABL2_ENST00000512653.1_Missense_Mutation_p.M642I	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	657					actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|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)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.M642I(1)|p.M621I(1)|p.M657I(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTCTCTTCTTCATGAAGGAGC	0.502			T	ETV6	AML																																	uc001gmj.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		3	Substitution - Missense(3)		lung(3)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(1969-1971)ATG>ATA		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						164.0	175.0	171.0					1																	179078431		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179078431C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1971G>A	1.37:g.179078431C>T	ENSP00000427562:p.Met657Ile					ABL2_uc010pnf.1_Missense_Mutation_p.M657I|ABL2_uc010png.1_Missense_Mutation_p.M636I|ABL2_uc010pnh.1_Missense_Mutation_p.M636I|ABL2_uc001gmg.3_Missense_Mutation_p.M642I|ABL2_uc001gmi.3_Missense_Mutation_p.M642I|ABL2_uc001gmh.3_Missense_Mutation_p.M621I|ABL2_uc010pne.1_Missense_Mutation_p.M621I	p.M657I	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	2258	-			657					A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.1971G>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	0.384	-0.927301	0.02377	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000005	T	0.09862	0.0242	N	0.12746	0.255	0.54753	D	0.999988	B;B;B;P;B;B;B;B	0.41784	0.008;0.008;0.008;0.762;0.002;0.018;0.002;0.014	B;B;B;B;B;B;B;B	0.43623	0.011;0.011;0.032;0.425;0.002;0.011;0.004;0.032	T	0.04635	-1.0937	10	0.02654	T	1	.	18.5539	0.91075	0.0:1.0:0.0:0.0	.	636;636;657;621;657;642;621;642	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	I	657;621;642;642;621;636;636;657	ENSP00000427562:M657I;ENSP00000386152:M621I;ENSP00000339209:M642I;ENSP00000423578:M642I;ENSP00000426831:M621I;ENSP00000356595:M636I;ENSP00000423413:M636I;ENSP00000424697:M657I	ENSP00000339209:M642I	M	-	3	0	ABL2	177345054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.576000	0.46033	2.630000	0.89119	0.591000	0.81541	ATG		PASS	0.502	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		14	625	14	625	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179503872	179503872	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:179503872G>C	ENST00000367618.3	+	25	3193	c.2806G>C	c.(2806-2808)Gaa>Caa	p.E936Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	936	Glu-rich.							p.E936Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CAGGGAGGTTGAAAATAGAGC	0.343																																						uc001gmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2806-2808)GAA>CAA		hypothetical protein LOC126859 isoform 1							60.0	61.0	61.0					1																	179503872		2202	4298	6500	SO:0001583	missense	126859							g.chr1:179503872G>C	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2806G>C	1.37:g.179503872G>C	ENSP00000356590:p.Glu936Gln					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E862Q|C1orf125_uc009wxh.2_RNA	p.E936Q	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			25	2933	+			936			Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2806G>C	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867914	0.32977	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.28255	1.62;1.62	4.89	4.89	0.63831	.	0.070068	0.53938	D	0.000054	T	0.36054	0.0953	L	0.32530	0.975	0.80722	D	1	P;D	0.58620	0.952;0.983	P;P	0.53401	0.601;0.725	T	0.04708	-1.0932	10	0.49607	T	0.09	-21.5949	15.2594	0.73610	0.0:0.0:1.0:0.0	.	820;936	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	936;820;796	ENSP00000356590:E936Q;ENSP00000391716:E796Q	ENSP00000353471:E820Q	E	+	1	0	AXDND1	177770495	0.922000	0.31269	0.957000	0.39632	0.280000	0.26924	3.939000	0.56591	2.699000	0.92147	0.591000	0.81541	GAA		PASS	0.343	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		23	205	23	205	---	---	---	---
TOR1AIP2	163590	broad.mit.edu	37	1	179815465	179815465	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:179815465T>A	ENST00000367612.3	-	6	1541	c.1154A>T	c.(1153-1155)gAg>gTg	p.E385V	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.E385V	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0								p.E385V(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGCAGCATTCTCATGATCACA	0.478																																						uc001gnk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1153-1155)GAG>GTG		torsin A interacting protein 2							94.0	92.0	93.0					1																	179815465		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179815465T>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.1154A>T	1.37:g.179815465T>A	ENSP00000356584:p.Glu385Val					TOR1AIP2_uc001gnl.2_Missense_Mutation_p.E385V	p.E385V	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN			6	1542	-			385					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.1154A>T	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651941	0.88056	.	.	ENSG00000169905	ENST00000367612	T	0.36340	1.26	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.84683	2.71	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.71444	-0.4591	10	0.87932	D	0	-22.593	15.5314	0.75964	0.0:0.0:0.0:1.0	.	385	Q8NFQ8	TOIP2_HUMAN	V	385	ENSP00000356584:E385V	ENSP00000356584:E385V	E	-	2	0	TOR1AIP2	178082088	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.587000	0.82613	2.145000	0.66743	0.533000	0.62120	GAG		PASS	0.478	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		41	114	41	114	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184853879	184853879	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:184853879T>C	ENST00000367511.3	-	5	682	c.489A>G	c.(487-489)ccA>ccG	p.P163P		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	163					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P163P(1)|p.P163>?(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ACAGGTACACTGGGAATTCCT	0.493																																						uc001gra.2																			2	Substitution - coding silent(1)|Complex(1)		lung(2)	ovary(3)|skin(1)	4						c.(487-489)CCA>CCG		niban protein isoform 2							93.0	87.0	89.0					1																	184853879		2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184853879T>C	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.489A>G	1.37:g.184853879T>C						FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron	p.P163P	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			5	683	-			163					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.489A>G	CCDS1364.1																																																																																				PASS	0.493	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			14	81	14	81	---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185267261	185267261	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:185267261C>A	ENST00000367498.3	-	15	2457	c.1835G>T	c.(1834-1836)gGa>gTa	p.G612V	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.G394V	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	612					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.G612V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATCGAATCCTCCCACTGCATA	0.393																																						uc001grl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1834-1836)GGA>GTA		influenza virus NS1A binding protein							279.0	253.0	261.0					1																	185267261		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185267261C>A	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1835G>T	1.37:g.185267261C>A	ENSP00000356468:p.Gly612Val					IVNS1ABP_uc001gri.2_Missense_Mutation_p.G272V|IVNS1ABP_uc001grj.2_Missense_Mutation_p.G272V|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.G394V|IVNS1ABP_uc009wyk.2_RNA	p.G612V	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			15	2458	-			612			Kelch 6.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1835G>T	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482734	0.84747	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	D;D	0.98792	-5.14;-5.14	5.38	5.38	0.77491	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99560	0.9842	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97810	1.0250	10	0.87932	D	0	.	19.5013	0.95095	0.0:1.0:0.0:0.0	.	394;612	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	V	612;394	ENSP00000356468:G612V;ENSP00000375864:G394V	ENSP00000356468:G612V	G	-	2	0	IVNS1ABP	183533884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	2.677000	0.91161	0.563000	0.77884	GGA		PASS	0.393	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		62	598	62	598	---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185270568	185270568	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:185270568G>C	ENST00000367498.3	-	9	1515	c.893C>G	c.(892-894)tCa>tGa	p.S298*	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Nonsense_Mutation_p.S80*	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	298	Sufficient for AHR interaction and signaling.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.S298*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATACTTACTTGAAGTCTTTTC	0.373																																						uc001grl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(892-894)TCA>TGA		influenza virus NS1A binding protein							176.0	168.0	171.0					1																	185270568		2203	4300	6503	SO:0001587	stop_gained	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185270568G>C	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.893C>G	1.37:g.185270568G>C	ENSP00000356468:p.Ser298*					IVNS1ABP_uc001gri.2_5'UTR|IVNS1ABP_uc001grj.2_5'UTR|IVNS1ABP_uc009wyj.2_Nonsense_Mutation_p.S80*|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_5'UTR	p.S298*	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			9	1516	-			298			Sufficient for AHR interaction and signaling.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Nonsense_Mutation	SNP	ENST00000367498.3	37	c.893C>G	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	G	46	12.434335	0.99667	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	.	.	.	5.74	5.74	0.90152	.	0.055649	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	298;80	.	ENSP00000356468:S298X	S	-	2	0	IVNS1ABP	183537191	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.438000	0.80431	2.873000	0.98535	0.563000	0.77884	TCA		PASS	0.373	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		34	321	34	321	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186099718	186099718	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:186099718G>C	ENST00000271588.4	+	85	13348	c.13119G>C	c.(13117-13119)gtG>gtC	p.V4373V	HMCN1_ENST00000367492.2_Silent_p.V4373V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4373	Ig-like C2-type 43.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.V4373V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTGTGAGGTGAAAGGAGACC	0.478																																						uc001grq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(22)|skin(1)	23						c.(13117-13119)GTG>GTC		hemicentin 1 precursor							111.0	107.0	108.0					1																	186099718		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186099718G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13119G>C	1.37:g.186099718G>C						HMCN1_uc001grs.1_5'UTR	p.V4373V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			85	13348	+			4373			Ig-like C2-type 43.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.13119G>C	CCDS30956.1																																																																																				PASS	0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		26	191	26	191	---	---	---	---
RGS13	6003	broad.mit.edu	37	1	192627366	192627366	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:192627366G>A	ENST00000391995.2	+	6	451	c.163G>A	c.(163-165)Gag>Aag	p.E55K	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Missense_Mutation_p.E55K	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	55	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E55K(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						TTTAAAAATGGAGCACAGTGA	0.358																																						uc001gsj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)GAG>AAG		regulator of G-protein signalling 13							78.0	78.0	78.0					1																	192627366		2203	4300	6503	SO:0001583	missense	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192627366G>A	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.163G>A	1.37:g.192627366G>A	ENSP00000375853:p.Glu55Lys					RGS13_uc001gsk.2_Missense_Mutation_p.E55K	p.E55K	NM_002927	NP_002918	O14921	RGS13_HUMAN			6	444	+			55			RGS.		Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	c.163G>A	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489112	0.96323	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.02216	4.39;4.39	5.88	5.88	0.94601	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33394	-0.9870	10	0.87932	D	0	.	17.7148	0.88333	0.0:0.0:1.0:0.0	.	55	O14921	RGS13_HUMAN	K	55	ENSP00000375853:E55K;ENSP00000442837:E55K	ENSP00000375853:E55K	E	+	1	0	RGS13	190893989	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.039000	0.93777	2.792000	0.96026	0.555000	0.69702	GAG		PASS	0.358	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		25	131	25	131	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196928072	196928072	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:196928072C>A	ENST00000367415.5	+	5	775	c.675C>A	c.(673-675)aaC>aaA	p.N225K	CFHR2_ENST00000367421.3_Missense_Mutation_p.N225K|CFHR2_ENST00000476712.2_Missense_Mutation_p.N209K|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	225	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.N225K(1)		large_intestine(2)|ovary(1)|skin(3)	6						AGTGGACAAACCAACAAAAGC	0.284																																						uc001gtq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(673-675)AAC>AAA		H factor (complement)-like 3 precursor							48.0	51.0	50.0					1																	196928072		2201	4292	6493	SO:0001583	missense	3080					extracellular region		g.chr1:196928072C>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.675C>A	1.37:g.196928072C>A	ENSP00000356385:p.Asn225Lys					CFHR2_uc001gtr.1_Missense_Mutation_p.N101K	p.N225K	NM_005666	NP_005657	P36980	FHR2_HUMAN			5	752	+			225			Sushi 4.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.675C>A	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	1.754	-0.488442	0.04352	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.62364	0.03;0.03	3.52	-7.04	0.01578	Complement control module (2);Sushi/SCR/CCP (2);	3.625390	0.01196	N	0.007449	T	0.36413	0.0966	L	0.28192	0.835	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.38866	-0.9641	10	0.06365	T	0.9	.	1.0358	0.01548	0.2076:0.3469:0.246:0.1995	.	198;225	P36980-2;P36980	.;FHR2_HUMAN	K	225	ENSP00000356391:N225K;ENSP00000356385:N225K	ENSP00000356385:N225K	N	+	3	2	CFHR2	195194695	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.309000	0.00517	-1.012000	0.03387	-0.399000	0.06403	AAC		PASS	0.284	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		7	106	7	106	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198700751	198700751	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:198700751G>A	ENST00000367376.2	+	18	2035	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	PTPRC_ENST00000348564.6_Missense_Mutation_p.E463K|PTPRC_ENST00000594404.1_Missense_Mutation_p.E461K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E574K|PTPRC_ENST00000442510.2_Missense_Mutation_p.E624K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	622					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E622K(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCCAGATGATGAAAAACAACT	0.348																																						uc001gur.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(1864-1866)GAA>AAA		protein tyrosine phosphatase, receptor type, C							119.0	116.0	117.0					1																	198700751		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198700751G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1864G>A	1.37:g.198700751G>A	ENSP00000356346:p.Glu622Lys					PTPRC_uc001gus.1_Missense_Mutation_p.E574K|PTPRC_uc001gut.1_Missense_Mutation_p.E461K|PTPRC_uc009wzf.1_Missense_Mutation_p.E510K|PTPRC_uc010ppg.1_Missense_Mutation_p.E558K	p.E622K	NM_002838	NP_002829	P08575	PTPRC_HUMAN			18	2044	+			622			Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.1864G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.414546	0.96092	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.02863	4.13	5.59	5.59	0.84812	.	0.000000	0.49916	D	0.000128	T	0.15003	0.0362	M	0.78049	2.395	0.80722	D	1	D;D;P;P;P	0.58620	0.975;0.983;0.947;0.947;0.947	P;P;P;P;P	0.61132	0.848;0.884;0.735;0.786;0.735	T	0.00095	-1.2076	10	0.51188	T	0.08	.	19.5964	0.95541	0.0:0.0:1.0:0.0	.	558;558;463;574;622	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	K	624;558;574;574;508;622;556;461	ENSP00000193532:E574K	ENSP00000306782:E461K	E	+	1	0	PTPRC	196967374	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	8.745000	0.91600	2.607000	0.88179	0.650000	0.86243	GAA		PASS	0.348	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				14	174	14	174	---	---	---	---
ZNF281	23528	broad.mit.edu	37	1	200377663	200377663	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:200377663G>C	ENST00000294740.3	-	2	1295	c.1171C>G	c.(1171-1173)Ctg>Gtg	p.L391V	ZNF281_ENST00000367353.1_Missense_Mutation_p.L391V|ZNF281_ENST00000367352.3_Missense_Mutation_p.L355V	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	391					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.L391V(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AACACAGCCAGATTACCCATA	0.403																																						uc001gve.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1171-1173)CTG>GTG		zinc finger protein 281							148.0	151.0	150.0					1																	200377663		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377663G>C	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1171C>G	1.37:g.200377663G>C	ENSP00000294740:p.Leu391Val					ZNF281_uc001gvf.1_Missense_Mutation_p.L391V|ZNF281_uc001gvg.1_Missense_Mutation_p.L355V	p.L391V	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	1278	-			391					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1171C>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933872	0.18206	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.08102	3.16;3.16;3.13	5.76	3.91	0.45181	.	0.217825	0.40385	N	0.001111	T	0.06371	0.0164	L	0.27053	0.805	0.30675	N	0.752961	P;P	0.48089	0.905;0.905	B;B	0.44224	0.444;0.444	T	0.15809	-1.0424	10	0.19590	T	0.45	-0.0228	7.1219	0.25450	0.3667:0.0:0.6333:0.0	.	355;391	A6NF48;Q9Y2X9	.;ZN281_HUMAN	V	391;391;355;96	ENSP00000294740:L391V;ENSP00000356322:L391V;ENSP00000356321:L355V	ENSP00000294740:L391V	L	-	1	2	ZNF281	198644286	0.997000	0.39634	0.739000	0.30968	0.975000	0.68041	1.775000	0.38584	0.784000	0.33661	-0.140000	0.14226	CTG		PASS	0.403	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		11	527	11	527	---	---	---	---
CAMSAP2	23271	broad.mit.edu	37	1	200801403	200801404	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:200801403_200801404GG>CT	ENST00000236925.4	+	6	803_804	c.754_755GG>CT	c.(754-756)GGg>CTg	p.G252L	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.G241L|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.G241L			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	252	CH.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.G241V(1)|p.G241L(1)|p.G241R(1)									GTTGAAGGATGGGACAGATGGC	0.381																																						uc001gvl.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(754-756)GGG>CGG|c.(754-756)GGG>GTG		calmodulin regulated spectrin-associated protein																																				SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200801403G>C|g.chr1:200801404G>T	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	Exception_encountered	1.37:g.200801403_200801404delinsCT	ENSP00000236925:p.Gly252Leu					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.G241R|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.G241R|CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.G241V|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.G241V	p.G252R|p.G252V	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			6	1024|1025	+			252			CH.		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.754G>C|c.755G>T																																																																																					PASS	0.381	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		18	231|232	18	231	---	---	---	---
CAMSAP2	23271	broad.mit.edu	37	1	200825142	200825142	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:200825142G>C	ENST00000236925.4	+	16	3983	c.3934G>C	c.(3934-3936)Gag>Cag	p.E1312Q	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.E1301Q|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.E1285Q			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1312					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.E1301Q(1)									AATTAGATCAGAGTCTGTAGA	0.388																																						uc001gvl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(3934-3936)GAG>CAG		calmodulin regulated spectrin-associated protein							120.0	139.0	133.0					1																	200825142		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200825142G>C	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3934G>C	1.37:g.200825142G>C	ENSP00000236925:p.Glu1312Gln					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.E1301Q|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.E1285Q	p.E1312Q	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			16	4204	+			1312					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3934G>C		.	.	.	.	.	.	.	.	.	.	G	26.1	4.707820	0.89018	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.16196	2.36;2.36;2.37	5.36	5.36	0.76844	.	0.144234	0.64402	D	0.000009	T	0.36552	0.0971	L	0.50333	1.59	0.80722	D	1	D;D;D	0.61697	0.99;0.983;0.99	D;P;D	0.64237	0.923;0.889;0.923	T	0.01500	-1.1339	10	0.48119	T	0.1	-27.9018	19.4633	0.94927	0.0:0.0:1.0:0.0	.	1285;1312;1301	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	Q	1301;1285;1312	ENSP00000351684:E1301Q;ENSP00000416800:E1285Q;ENSP00000236925:E1312Q	ENSP00000236925:E1312Q	E	+	1	0	CAMSAP1L1	199091765	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.470000	0.97683	2.666000	0.90696	0.655000	0.94253	GAG		PASS	0.388	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		52	355	52	355	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201047027	201047027	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:201047027C>G	ENST00000362061.3	-	11	1825	c.1599G>C	c.(1597-1599)ctG>ctC	p.L533L	CACNA1S_ENST00000367338.3_Silent_p.L533L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	533					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L533L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAAGATCCTCAGGAGGCGGA	0.632																																						uc001gvv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1597-1599)CTG>CTC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						42.0	37.0	39.0					1																	201047027		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047027C>G	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1599G>C	1.37:g.201047027C>G							p.L533L	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			11	1826	-			533			II.|Helical; Name=S4 of repeat II; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1599G>C	CCDS1407.1																																																																																				PASS	0.632	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		10	86	10	86	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201060808	201060808	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:201060808G>A	ENST00000362061.3	-	5	880	c.654C>T	c.(652-654)ttC>ttT	p.F218F	CACNA1S_ENST00000367338.3_Silent_p.F218F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	218					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F218F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTTGCCCTTGAAGAGCTCCA	0.562																																						uc001gvv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(652-654)TTC>TTT		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						128.0	112.0	117.0					1																	201060808		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201060808G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.654C>T	1.37:g.201060808G>A							p.F218F	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			5	881	-			218			Helical; Name=S5 of repeat I; (Potential).|I.		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.654C>T	CCDS1407.1																																																																																				PASS	0.562	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		21	234	21	234	---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203819065	203819065	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:203819065C>T	ENST00000545588.1	+	14	5677	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.S617F|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.S617F|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.S617F|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.S617F	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	617					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S617F(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACAAAGTCATCCCAGAAGGTG	0.493																																						uc001hac.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(1849-1851)TCC>TTC		zinc finger CCCH-type containing 11A							62.0	61.0	61.0					1																	203819065		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819065C>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1850C>T	1.37:g.203819065C>T	ENSP00000438527:p.Ser617Phe					ZC3H11A_uc001had.2_Missense_Mutation_p.S617F|ZC3H11A_uc001hae.2_Missense_Mutation_p.S617F|ZC3H11A_uc001haf.2_Missense_Mutation_p.S617F|ZC3H11A_uc010pqm.1_Missense_Mutation_p.S563F|ZC3H11A_uc001hag.1_Missense_Mutation_p.S617F	p.S617F	NM_014827	NP_055642	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	2466	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		617					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.1850C>T	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062906	0.36373	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.92	2.98	0.34508	.	1.009680	0.07931	N	0.977539	T	0.44074	0.1276	M	0.69823	2.125	0.30801	N	0.739818	P	0.35242	0.492	B	0.29716	0.106	T	0.49826	-0.8898	10	0.72032	D	0.01	-19.8758	4.7677	0.13141	0.1559:0.6133:0.1503:0.0806	.	617	O75152	ZC11A_HUMAN	F	617;563;617;617;617;617	ENSP00000356183:S617F;ENSP00000356181:S617F;ENSP00000333253:S617F;ENSP00000438527:S617F;ENSP00000356179:S617F	ENSP00000333253:S617F	S	+	2	0	ZC3H11A	202085688	0.072000	0.21174	0.448000	0.26945	0.985000	0.73830	0.226000	0.17776	0.381000	0.24851	0.561000	0.74099	TCC		PASS	0.493	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		20	127	20	127	---	---	---	---
REN	5972	broad.mit.edu	37	1	204131207	204131207	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:204131207G>A	ENST00000272190.8	-	2	211	c.183C>T	c.(181-183)agC>agT	p.S61S	REN_ENST00000367195.2_Silent_p.S61S	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	61					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)	p.S61S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCATGGGTTGGCTCCACTCGG	0.592											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001haq.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|central_nervous_system(1)	4						c.(181-183)AGC>AGT		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						201.0	158.0	173.0					1																	204131207		2203	4300	6503	SO:0001819	synonymous_variant	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204131207G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.183C>T	1.37:g.204131207G>A			OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2142		p.S61S	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	227	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		61					Q6FI38|Q6T5C2	Silent	SNP	ENST00000272190.8	37	c.183C>T	CCDS30981.1																																																																																				PASS	0.592	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		15	56	15	56	---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204379147	204379147	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:204379147C>G	ENST00000367188.4	-	1	1772	c.1393G>C	c.(1393-1395)Gac>Cac	p.D465H	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	465					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.D465H(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			AGGTCTGAGTCTGACAGTGAG	0.458																																						uc001hav.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1393-1395)GAC>CAC		protein phosphatase 1, regulatory subunit 15B							117.0	119.0	119.0					1																	204379147		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204379147C>G	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1393G>C	1.37:g.204379147C>G	ENSP00000356156:p.Asp465His						p.D465H	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1798	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		465					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1393G>C	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518140	0.85495	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.25579	1.79	4.95	4.95	0.65309	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.591978	0.17415	N	0.175058	T	0.34135	0.0887	L	0.29908	0.895	0.41988	D	0.990837	P	0.48998	0.918	P	0.54460	0.753	T	0.12372	-1.0550	10	0.72032	D	0.01	-2.1681	16.3288	0.82997	0.0:1.0:0.0:0.0	.	465	Q5SWA1	PR15B_HUMAN	H	465;375	ENSP00000356156:D465H	ENSP00000356156:D465H	D	-	1	0	PPP1R15B	202645770	1.000000	0.71417	0.874000	0.34290	0.956000	0.61745	6.193000	0.72075	2.423000	0.82170	0.655000	0.94253	GAC		PASS	0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		213	325	213	325	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204587926	204587926	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:204587926C>T	ENST00000367175.1	-	1	3407	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	LRRN2_ENST00000367176.3_Missense_Mutation_p.E399K|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367177.3_Missense_Mutation_p.E399K|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	399	LRRCT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E399K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCCGGAGGCTCCGCACACAGG	0.662																																						uc001hbe.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1195-1197)GAG>AAG		leucine rich repeat neuronal 2 precursor							46.0	52.0	50.0					1																	204587926		2203	4299	6502	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587926C>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1195G>A	1.37:g.204587926C>T	ENSP00000356143:p.Glu399Lys					MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.E399K|LRRN2_uc009xbf.1_Missense_Mutation_p.E399K|MDM4_uc001hbc.2_Intron	p.E399K	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	1583	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		399			Extracellular (Potential).|LRRCT.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1195G>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575375	0.28092	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.60299	0.2;0.2;0.2	5.69	5.69	0.88448	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.43579	D	0.000549	T	0.66799	0.2826	L	0.54323	1.7	0.39241	D	0.96386	D	0.76494	0.999	D	0.65987	0.94	T	0.61515	-0.7047	10	0.10902	T	0.67	.	14.2668	0.66123	0.149:0.851:0.0:0.0	.	399	O75325	LRRN2_HUMAN	K	399	ENSP00000356144:E399K;ENSP00000356145:E399K;ENSP00000356143:E399K	ENSP00000356143:E399K	E	-	1	0	LRRN2	202854549	0.250000	0.23951	0.968000	0.41197	0.873000	0.50193	2.144000	0.42197	2.684000	0.91462	0.557000	0.71058	GAG		PASS	0.662	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		10	69	10	69	---	---	---	---
FAIM3	9214	broad.mit.edu	37	1	207085125	207085125	+	Silent	SNP	G	G	C	rs544259123		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:207085125G>C	ENST00000367091.3	-	4	803	c.660C>G	c.(658-660)ctC>ctG	p.L220L	FAIM3_ENST00000420007.2_Silent_p.L220L|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Silent_p.L108L	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	220					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L220L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TCTGGGGCTTGAGCAGCCCCT	0.557											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hey.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(658-660)CTC>CTG		Fas apoptotic inhibitory molecule 3 isoform a							90.0	90.0	90.0					1																	207085125		2203	4300	6503	SO:0001819	synonymous_variant	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207085125G>C	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.660C>G	1.37:g.207085125G>C			OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2164	FAIM3_uc010prz.1_Silent_p.L108L|FAIM3_uc010psa.1_Silent_p.L129L|FAIM3_uc010psb.1_Silent_p.L220L	p.L220L	NM_005449	NP_005440	O60667	FAIM3_HUMAN			4	839	-	Breast(84;0.201)		220			Extracellular (Potential).		A8K7J2|B7Z6Z0|D9MWM3	Silent	SNP	ENST00000367091.3	37	c.660C>G	CCDS1473.1																																																																																				PASS	0.557	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		12	140	12	140	---	---	---	---
SYT14	255928	broad.mit.edu	37	1	210273457	210273457	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:210273457C>G	ENST00000472886.1	+	6	829	c.815C>G	c.(814-816)tCa>tGa	p.S272*	SYT14_ENST00000534859.1_Nonsense_Mutation_p.S272*|SYT14_ENST00000367019.1_Nonsense_Mutation_p.S272*|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367015.1_Nonsense_Mutation_p.S234*|SYT14_ENST00000422431.1_Nonsense_Mutation_p.S317*|SYT14_ENST00000399639.2_Nonsense_Mutation_p.S272*|SYT14_ENST00000537238.1_Nonsense_Mutation_p.S234*			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	272					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.S272*(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GACTATGACTCACAAGAACAG	0.443																																						uc009xcv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(814-816)TCA>TGA		synaptotagmin XIV isoform 4							93.0	85.0	88.0					1																	210273457		2203	4300	6503	SO:0001587	stop_gained	255928					integral to membrane		g.chr1:210273457C>G	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.815C>G	1.37:g.210273457C>G	ENSP00000418901:p.Ser272*					SYT14_uc001hhs.3_Nonsense_Mutation_p.S317*|SYT14_uc001hht.3_Nonsense_Mutation_p.S272*|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Nonsense_Mutation_p.S317*|SYT14_uc010pso.1_Nonsense_Mutation_p.S234*	p.S272*	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	6	887	+			272			Cytoplasmic (Potential).		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Nonsense_Mutation	SNP	ENST00000472886.1	37	c.815C>G	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	C	37	6.576324	0.97676	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-11.3609	20.4251	0.99070	0.0:1.0:0.0:0.0	.	.	.	.	X	317;272;272;234;272;272;234	.	ENSP00000355982:S234X	S	+	2	0	SYT14	208340080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.118000	0.77137	2.829000	0.97493	0.650000	0.86243	TCA		PASS	0.443	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		12	126	12	126	---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210761406	210761406	+	Missense_Mutation	SNP	G	G	C	rs368498838		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:210761406G>C	ENST00000367010.1	+	10	1435	c.1208G>C	c.(1207-1209)cGg>cCg	p.R403P	HHAT_ENST00000391905.3_Missense_Mutation_p.R403P|HHAT_ENST00000545781.1_Missense_Mutation_p.R340P|HHAT_ENST00000541565.1_Missense_Mutation_p.R266P|HHAT_ENST00000413764.2_Missense_Mutation_p.R403P|HHAT_ENST00000261458.3_Missense_Mutation_p.R403P|HHAT_ENST00000308852.6_Missense_Mutation_p.R358P|HHAT_ENST00000367009.1_Missense_Mutation_p.R93P|HHAT_ENST00000537898.1_Missense_Mutation_p.R338P|HHAT_ENST00000545154.1_Missense_Mutation_p.R404P	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	403					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)	p.R403P(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		AATGGAGTCCGGAGGCTGGTG	0.557																																						uc009xcx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1207-1209)CGG>CCG		hedgehog acyltransferase							49.0	44.0	45.0					1																	210761406		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210761406G>C	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1208G>C	1.37:g.210761406G>C	ENSP00000355977:p.Arg403Pro					HHAT_uc010psq.1_Missense_Mutation_p.R266P|HHAT_uc001hhz.3_Missense_Mutation_p.R403P|HHAT_uc010psr.1_Missense_Mutation_p.R404P|HHAT_uc010pss.1_Missense_Mutation_p.R358P|HHAT_uc009xcy.2_Missense_Mutation_p.R338P|HHAT_uc010pst.1_Missense_Mutation_p.R340P|HHAT_uc010psu.1_Missense_Mutation_p.R338P|HHAT_uc001hia.3_Missense_Mutation_p.R93P	p.R403P	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	10	1374	+			403					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.1208G>C	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795382	0.31777	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.69	2.78	0.32641	.	0.977301	0.08395	N	0.952293	T	0.74261	0.3693	M	0.61703	1.905	0.24389	N	0.994754	P;P;P;P;P	0.48016	0.78;0.904;0.78;0.457;0.641	B;B;P;B;B	0.46850	0.432;0.306;0.529;0.312;0.395	T	0.58470	-0.7631	10	0.36615	T	0.2	-6.8397	7.3778	0.26839	0.3522:0.0:0.6478:0.0	.	358;404;266;338;403	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	P	403;266;404;338;403;340;403;358;403;93	ENSP00000416845:R403P;ENSP00000444995:R266P;ENSP00000438468:R404P;ENSP00000442625:R338P;ENSP00000375773:R403P;ENSP00000439229:R340P;ENSP00000261458:R403P;ENSP00000308628:R358P;ENSP00000355977:R403P;ENSP00000355976:R93P	ENSP00000261458:R403P	R	+	2	0	HHAT	208828029	0.205000	0.23458	0.299000	0.25016	0.290000	0.27261	0.357000	0.20199	0.321000	0.23259	0.655000	0.94253	CGG		PASS	0.557	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		8	28	8	28	---	---	---	---
PPP2R5A	5525	broad.mit.edu	37	1	212502659	212502659	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:212502659G>C	ENST00000261461.2	+	2	938	c.364G>C	c.(364-366)Gat>Cat	p.D122H	RP11-384C4.7_ENST00000442146.1_RNA|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.D65H|PPP2R5A_ENST00000498129.2_3'UTR	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	122					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)	p.D122H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AGCGTATTCTGATATAGTAAA	0.299																																						uc001hjb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)GAT>CAT		protein phosphatase 2, regulatory subunit B							96.0	103.0	101.0					1																	212502659		2202	4299	6501	SO:0001583	missense	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212502659G>C	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.364G>C	1.37:g.212502659G>C	ENSP00000261461:p.Asp122His					PPP2R5A_uc010ptd.1_Missense_Mutation_p.D63H	p.D122H	NM_006243	NP_006234	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	2	938	+			122					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.364G>C	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533289	0.85812	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.83	4.91	0.64330	Armadillo-type fold (1);	0.135637	0.64402	D	0.000003	T	0.61160	0.2325	L	0.28274	0.84	0.58432	D	0.999993	P;P	0.44659	0.84;0.84	P;P	0.57009	0.811;0.811	T	0.63341	-0.6659	9	0.62326	D	0.03	-9.9566	15.3267	0.74168	0.0679:0.0:0.9321:0.0	.	65;122	B7Z7L2;Q15172	.;2A5A_HUMAN	H	122;122;65	.	ENSP00000261461:D122H	D	+	1	0	PPP2R5A	210569282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.775000	0.95449	0.650000	0.86243	GAT		PASS	0.299	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		9	97	9	97	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214818501	214818501	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:214818501C>T	ENST00000366955.3	+	13	5756	c.5588C>T	c.(5587-5589)tCt>tTt	p.S1863F		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1959					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.S1863F(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTAGAAACTTCTGAAGGCCTC	0.368																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(5587-5589)TCT>TTT		centromere protein F							44.0	45.0	45.0					1																	214818501		2203	4299	6502	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818501C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5588C>T	1.37:g.214818501C>T	ENSP00000355922:p.Ser1863Phe						p.S1863F	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	5762	+			1959			Potential.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.5588C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.546623	0.00926	.	.	ENSG00000117724	ENST00000366955	T	0.03413	3.94	5.38	0.658	0.17855	.	0.717198	0.10945	N	0.616835	T	0.02267	0.0070	N	0.22421	0.69	0.09310	N	1	P	0.41265	0.744	B	0.31191	0.125	T	0.46233	-0.9206	10	0.56958	D	0.05	.	5.5763	0.17225	0.0:0.3528:0.1398:0.5075	.	1959	P49454	CENPF_HUMAN	F	1863	ENSP00000355922:S1863F	ENSP00000355922:S1863F	S	+	2	0	CENPF	212885124	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.338000	0.07842	-0.108000	0.12066	-0.233000	0.12211	TCT		PASS	0.368	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		5	101	5	101	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215824088	215824088	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:215824088G>T	ENST00000307340.3	-	65	14575	c.14189C>A	c.(14188-14190)aCc>aAc	p.T4730N	USH2A_ENST00000366943.2_Missense_Mutation_p.T4730N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4730	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T4730N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCTGGCCCGGTTCTGCACCA	0.547										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14188-14190)ACC>AAC		usherin isoform B							103.0	104.0	103.0					1																	215824088		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215824088G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14189C>A	1.37:g.215824088G>T	ENSP00000305941:p.Thr4730Asn	HNSCC(13;0.011)					p.T4730N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	65	14576	-			4730			Fibronectin type-III 32.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14189C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784862	0.70222	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.62498	0.02;0.02	5.73	5.73	0.89815	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.43747	U	0.000531	D	0.82907	0.5139	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84838	0.0806	10	0.66056	D	0.02	.	19.9023	0.96990	0.0:0.0:1.0:0.0	.	4730	O75445	USH2A_HUMAN	N	4730	ENSP00000305941:T4730N;ENSP00000355910:T4730N	ENSP00000305941:T4730N	T	-	2	0	USH2A	213890711	1.000000	0.71417	0.916000	0.36221	0.044000	0.14063	6.789000	0.75110	2.693000	0.91896	0.650000	0.86243	ACC		PASS	0.547	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		111	216	111	216	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215916526	215916526	+	Silent	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:215916526A>G	ENST00000307340.3	-	59	11927	c.11541T>C	c.(11539-11541)tgT>tgC	p.C3847C	USH2A_ENST00000366943.2_Silent_p.C3847C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3847	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.C3847C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCATTTTGACATGCTTGTA	0.368										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11539-11541)TGT>TGC		usherin isoform B							122.0	117.0	119.0					1																	215916526		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215916526A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11541T>C	1.37:g.215916526A>G		HNSCC(13;0.011)					p.C3847C	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	59	11928	-			3847			Fibronectin type-III 23.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.11541T>C	CCDS31025.1																																																																																				PASS	0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		51	206	51	206	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216017714	216017714	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:216017714C>A	ENST00000307340.3	-	46	9566	c.9180G>T	c.(9178-9180)aaG>aaT	p.K3060N	USH2A_ENST00000366943.2_Missense_Mutation_p.K3060N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3060	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.K3060N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTTGTAGAGCTTATTATTTA	0.398										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(9178-9180)AAG>AAT		usherin isoform B							91.0	94.0	93.0					1																	216017714		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216017714C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9180G>T	1.37:g.216017714C>A	ENSP00000305941:p.Lys3060Asn	HNSCC(13;0.011)					p.K3060N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	46	9567	-			3060			Fibronectin type-III 17.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9180G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344163	0.24339	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53640	0.61;0.61	6.04	6.04	0.98038	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.485871	0.16849	N	0.197039	T	0.37019	0.0988	N	0.20986	0.625	0.37318	D	0.909429	B	0.32245	0.361	B	0.25140	0.058	T	0.28138	-1.0053	10	0.25751	T	0.34	.	20.6396	0.99537	0.0:1.0:0.0:0.0	.	3060	O75445	USH2A_HUMAN	N	3060	ENSP00000305941:K3060N;ENSP00000355910:K3060N	ENSP00000305941:K3060N	K	-	3	2	USH2A	214084337	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	2.756000	0.47549	2.881000	0.98747	0.650000	0.86243	AAG		PASS	0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		40	146	40	146	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216251512	216251512	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:216251512G>T	ENST00000307340.3	-	27	5877	c.5491C>A	c.(5491-5493)Ctg>Atg	p.L1831M	USH2A_ENST00000366943.2_Missense_Mutation_p.L1831M|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1831	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L1831M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCACCACCAGTGGCTGGTCT	0.438										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5491-5493)CTG>ATG		usherin isoform B							95.0	98.0	97.0					1																	216251512		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251512G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5491C>A	1.37:g.216251512G>T	ENSP00000305941:p.Leu1831Met	HNSCC(13;0.011)					p.L1831M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5878	-			1831			Laminin G-like 2.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5491C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247354	0.80024	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.82711	-1.64;-1.64	4.79	2.91	0.33838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.236590	0.21525	N	0.073160	D	0.86497	0.5947	M	0.71206	2.165	0.34644	D	0.720974	D	0.58970	0.984	P	0.62184	0.899	D	0.86104	0.1558	10	0.42905	T	0.14	.	5.8271	0.18560	0.1612:0.0:0.6847:0.1541	.	1831	O75445	USH2A_HUMAN	M	1831	ENSP00000305941:L1831M;ENSP00000355910:L1831M	ENSP00000305941:L1831M	L	-	1	2	USH2A	214318135	1.000000	0.71417	0.003000	0.11579	0.841000	0.47740	3.387000	0.52501	0.454000	0.26884	0.650000	0.86243	CTG		PASS	0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		31	212	31	212	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216500961	216500961	+	Silent	SNP	G	G	T	rs397518036		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:216500961G>T	ENST00000307340.3	-	5	1206	c.820C>A	c.(820-822)Cga>Aga	p.R274R	USH2A_ENST00000366943.2_Silent_p.R274R|USH2A_ENST00000366942.3_Silent_p.R274R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	274	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R274R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTATAATCGAAAATCTTGC	0.358										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(820-822)CGA>AGA		usherin isoform B							150.0	144.0	146.0					1																	216500961		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216500961G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.820C>A	1.37:g.216500961G>T		HNSCC(13;0.011)				USH2A_uc001hkv.2_Silent_p.R274R	p.R274R	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	5	1207	-			274			Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.820C>A	CCDS31025.1																																																																																				PASS	0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		82	132	82	132	---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220835153	220835153	+	Splice_Site	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:220835153G>A	ENST00000366917.4	+	18	2299		c.e18-1		MARK1_ENST00000402574.1_Splice_Site|RP11-322F10.2_ENST00000446040.1_RNA|MARK1_ENST00000366918.4_Splice_Site					MAP/microtubule affinity-regulating kinase 1									p.?(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCTTGTTCCAGAAGTACATCA	0.408																																						uc001hmn.3																			1	Unknown(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.e18-1		MAP/microtubule affinity-regulating kinase 1							22.0	22.0	22.0					1																	220835153		2203	4300	6503	SO:0001630	splice_region_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220835153G>A	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2034-1G>A	1.37:g.220835153G>A						MARK1_uc009xdw.2_Splice_Site_p.R679_splice|MARK1_uc010pun.1_Splice_Site_p.R663_splice|MARK1_uc001hmm.3_Splice_Site_p.R641_splice	p.R678_splice	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	18	2631	+									Splice_Site	SNP	ENST00000366917.4	37	c.2034_splice	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757053	0.89843	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MARK1	218901776	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	.		PASS	0.408	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		Intron	11	45	11	45	---	---	---	---
MARC2	54996	broad.mit.edu	37	1	220955136	220955136	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:220955136C>G	ENST00000366913.3	+	7	1099	c.901C>G	c.(901-903)Cct>Gct	p.P301A	MARC2_ENST00000472447.1_3'UTR|MARC2_ENST00000359316.2_Intron	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	301	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)	p.P301A(1)									CCTGTGTGATCCTTCTGAGAG	0.393																																						uc001hmq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)CCT>GCT		MOCO sulphurase C-terminal domain containing 2							174.0	171.0	172.0					1																	220955136		2203	4300	6503	SO:0001583	missense	54996					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220955136C>G		CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"""MOCO sulphurase C-terminal domain containing 2"""	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.901C>G	1.37:g.220955136C>G	ENSP00000355880:p.Pro301Ala					MOSC2_uc001hmr.2_Missense_Mutation_p.P301A|MOSC2_uc009xdx.2_Intron	p.P301A	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN		GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)	7	1099	+			301			MOSC.		B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Missense_Mutation	SNP	ENST00000366913.3	37	c.901C>G	CCDS1525.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495484	0.85069	.	.	ENSG00000117791	ENST00000366913	T	0.21932	1.98	5.97	5.97	0.96955	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.080710	0.52532	D	0.000061	T	0.41143	0.1146	M	0.66939	2.045	0.58432	D	0.999992	P	0.51933	0.949	P	0.60541	0.876	T	0.03060	-1.1077	10	0.17369	T	0.5	-16.1003	17.3303	0.87261	0.0:1.0:0.0:0.0	.	301	Q969Z3	MOSC2_HUMAN	A	301	ENSP00000355880:P301A	ENSP00000355880:P301A	P	+	1	0	MOSC2	219021759	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.028000	0.64115	2.835000	0.97688	0.591000	0.81541	CCT		PASS	0.393	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090911.1	NM_017898		12	364	12	364	---	---	---	---
HLX	3142	broad.mit.edu	37	1	221053614	221053614	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:221053614C>T	ENST00000366903.6	+	1	1916	c.415C>T	c.(415-417)Ccg>Tcg	p.P139S	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'Flank	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	139	Pro-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P139S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		gcaacagcCTCCGCCTCCGCC	0.716																																						uc001hmv.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(415-417)CCG>TCG		H2.0-like homeobox							14.0	21.0	18.0					1																	221053614		2184	4271	6455	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221053614C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.415C>T	1.37:g.221053614C>T	ENSP00000355870:p.Pro139Ser						p.P139S	NM_021958	NP_068777	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	1	872	+			139			Pro-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.415C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944659	0.34283	.	.	ENSG00000136630	ENST00000366903	T	0.29917	1.55	4.25	3.32	0.38043	.	0.111474	0.37136	N	0.002230	T	0.14485	0.0350	N	0.08118	0	0.22253	N	0.999252	B	0.30793	0.295	B	0.27608	0.081	T	0.18681	-1.0329	10	0.21014	T	0.42	-10.5362	11.6941	0.51534	0.0:0.6552:0.3448:0.0	.	139	Q14774	HLX_HUMAN	S	139	ENSP00000355870:P139S	ENSP00000355870:P139S	P	+	1	0	HLX	219120237	0.001000	0.12720	0.024000	0.17045	0.063000	0.16089	0.960000	0.29253	0.973000	0.38340	0.591000	0.81541	CCG		PASS	0.716	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		5	33	5	33	---	---	---	---
TAF1A	9015	broad.mit.edu	37	1	222732062	222732062	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:222732062C>G	ENST00000352967.4	-	11	1481	c.1293G>C	c.(1291-1293)aaG>aaC	p.K431N	TAF1A_ENST00000366890.1_Missense_Mutation_p.K317N|TAF1A_ENST00000391882.1_Missense_Mutation_p.K317N|TAF1A_ENST00000350027.4_Missense_Mutation_p.K431N	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	431					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.K431N(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		GCTTAATTTTCTTCCCTAAGA	0.294																																						uc009xdz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1291-1293)AAG>AAC		TBP-associated factor 1A isoform 2							79.0	82.0	81.0					1																	222732062		2200	4287	6487	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222732062C>G	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1293G>C	1.37:g.222732062C>G	ENSP00000327072:p.Lys431Asn					TAF1A_uc009xdy.1_Missense_Mutation_p.K122N|TAF1A_uc001hni.1_Missense_Mutation_p.K317N|TAF1A_uc001hnj.2_Missense_Mutation_p.K431N|TAF1A_uc001hnk.2_Missense_Mutation_p.K317N	p.K431N	NM_139352	NP_647603	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	11	1482	-			431					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.1293G>C	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383387	0.61845	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.34	2.31	0.28768	.	0.054043	0.64402	D	0.000001	T	0.62392	0.2424	M	0.77616	2.38	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.62982	-0.6738	10	0.72032	D	0.01	.	7.6401	0.28288	0.0:0.7009:0.0:0.2991	.	431	Q15573	TAF1A_HUMAN	N	317;431;431;317	ENSP00000355856:K317N;ENSP00000339976:K431N;ENSP00000327072:K431N;ENSP00000375754:K317N	ENSP00000339976:K431N	K	-	3	2	TAF1A	220798685	0.986000	0.35501	1.000000	0.80357	0.927000	0.56198	0.053000	0.14184	0.689000	0.31550	0.655000	0.94253	AAG		PASS	0.294	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		20	140	20	140	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222838891	222838891	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:222838891G>A	ENST00000344922.5	+	28	5679	c.5654G>A	c.(5653-5655)aGa>aAa	p.R1885K	MIA3_ENST00000344441.6_Missense_Mutation_p.R1885K|AIDA_ENST00000474863.1_5'Flank|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.R763K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1885	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R1885K(1)|p.R1885T(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCAGGCTCTAGAGATGAGCCT	0.512																																						uc001hnl.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|central_nervous_system(1)	5						c.(5653-5655)AGA>AAA		melanoma inhibitory activity family, member 3							124.0	128.0	127.0					1																	222838891		1873	4122	5995	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222838891G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5654G>A	1.37:g.222838891G>A	ENSP00000340900:p.Arg1885Lys					MIA3_uc001hnm.2_Missense_Mutation_p.R763K	p.R1885K	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	28	5663	+			1885			Pro-rich.|Cytoplasmic (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.5654G>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566954	0.28003	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.09911	3.44;3.44;2.93	5.98	3.14	0.36123	.	.	.	.	.	T	0.10078	0.0247	M	0.64997	1.995	0.09310	N	0.999998	P;B	0.40794	0.729;0.038	B;B	0.35278	0.199;0.01	T	0.26121	-1.0112	9	0.35671	T	0.21	.	4.3198	0.11011	0.1344:0.1253:0.6103:0.13	.	763;1885	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	K	1885;1885;1826;763;763	ENSP00000340900:R1885K;ENSP00000340587:R1885K;ENSP00000345866:R763K	ENSP00000284471:R763K	R	+	2	0	MIA3	220905514	0.984000	0.35163	0.025000	0.17156	0.315000	0.28087	3.522000	0.53480	0.436000	0.26393	-0.152000	0.13540	AGA		PASS	0.512	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		8	270	8	270	---	---	---	---
AIDA	64853	broad.mit.edu	37	1	222876525	222876525	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:222876525G>C	ENST00000340020.6	-	2	351	c.145C>G	c.(145-147)Caa>Gaa	p.Q49E	AIDA_ENST00000541237.1_Missense_Mutation_p.Q25E|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.Q49E	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	49					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)		p.Q49E(1)		kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTATTGTGTTGAGCTTGGGCC	0.318																																						uc001hnn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)CAA>GAA		axin interactor, dorsalization associated							124.0	116.0	119.0					1																	222876525		2201	4298	6499	SO:0001583	missense	64853				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			g.chr1:222876525G>C	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.145C>G	1.37:g.222876525G>C	ENSP00000339161:p.Gln49Glu					AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.Q25E	p.Q49E	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN			2	350	-			49			Potential.		A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	c.145C>G	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	G	9.856	1.195048	0.22037	.	.	ENSG00000186063	ENST00000340020;ENST00000355727;ENST00000541237	.	.	.	5.66	5.66	0.87406	Axin interactor, dorsalization-associated protein, N-terminal (2);	0.210023	0.51477	D	0.000096	T	0.54679	0.1873	L	0.29908	0.895	0.43050	D	0.994659	B;B	0.09022	0.002;0.0	B;B	0.16289	0.015;0.002	T	0.47058	-0.9146	9	0.42905	T	0.14	.	19.7203	0.96139	0.0:0.0:1.0:0.0	.	25;49	F5H715;Q96BJ3	.;AIDA_HUMAN	E	49;49;25	.	ENSP00000339161:Q49E	Q	-	1	0	AIDA	220943148	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.939000	0.56591	2.832000	0.97577	0.655000	0.94253	CAA		PASS	0.318	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831		12	136	12	136	---	---	---	---
WNT9A	7483	broad.mit.edu	37	1	228109220	228109220	+	Nonstop_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:228109220C>G	ENST00000272164.5	-	4	1107	c.1097G>C	c.(1096-1098)tGa>tCa	p.*366S		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	0					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.*366S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CCTGGGAACTCAGCCCTTGCA	0.642																																						uc001hri.2																			1	Nonstop extension(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1096-1098)TGA>TCA		wingless-type MMTV integration site family,							64.0	55.0	58.0					1																	228109220		2203	4300	6503	SO:0001578	stop_lost	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109220C>G	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.1097G>C	1.37:g.228109220C>G							p.*366S	NM_003395	NP_003386	O14904	WNT9A_HUMAN			4	1185	-		Prostate(94;0.0405)	366					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Nonstop_Mutation	SNP	ENST00000272164.5	37	c.1097G>C	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621612	0.28889	.	.	ENSG00000143816	ENST00000272164	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3447	0.83118	0.0:1.0:0.0:0.0	.	.	.	.	S	366	.	.	X	-	2	2	WNT9A	226175843	1.000000	0.71417	0.981000	0.43875	0.774000	0.43823	1.506000	0.35747	2.326000	0.78906	0.484000	0.47621	TGA		PASS	0.642	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		12	133	12	133	---	---	---	---
ARF1	375	broad.mit.edu	37	1	228284827	228284827	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:228284827C>G	ENST00000541182.1	+	2	274	c.12C>G	c.(10-12)atC>atG	p.I4M	MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000540651.1_Missense_Mutation_p.I4M|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.I4M	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	4					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.I4M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				TGGGGAACATCTTCGCCAACC	0.547																																						uc001hrr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)ATC>ATG		ADP-ribosylation factor 1							112.0	91.0	98.0					1																	228284827		2203	4300	6503	SO:0001583	missense	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228284827C>G	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.12C>G	1.37:g.228284827C>G	ENSP00000440005:p.Ile4Met					ARF1_uc001hrs.2_Missense_Mutation_p.I4M|ARF1_uc001hrt.2_Missense_Mutation_p.I4M|ARF1_uc009xev.2_Intron|ARF1_uc001hru.2_Missense_Mutation_p.I4M|ARF1_uc001hrv.2_Missense_Mutation_p.I4M|ARF1_uc001hrw.2_Missense_Mutation_p.I4M	p.I4M	NM_001024226	NP_001019397	P84077	ARF1_HUMAN			2	240	+		Prostate(94;0.0405)	4					P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	c.12C>G	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997885	0.35226	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.66280	-0.2;-0.2;-0.2	5.55	3.48	0.39840	.	0.096296	0.43416	D	0.000576	T	0.42200	0.1192	N	0.21097	0.63	0.43430	D	0.995596	B;B	0.09022	0.002;0.0	B;B	0.23275	0.045;0.002	T	0.39121	-0.9629	10	0.48119	T	0.1	-21.3452	2.6783	0.05086	0.3827:0.3343:0.0:0.283	.	4;4	B4DJC8;P84077	.;ARF1_HUMAN	M	4	ENSP00000272102:I4M;ENSP00000442980:I4M;ENSP00000440005:I4M	ENSP00000272102:I4M	I	+	3	3	ARF1	226351450	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.470000	0.22084	1.489000	0.48450	0.591000	0.81541	ATC		PASS	0.547	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		4	211	4	211	---	---	---	---
ARF1	375	broad.mit.edu	37	1	228285672	228285672	+	Silent	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:228285672A>G	ENST00000541182.1	+	5	766	c.504A>G	c.(502-504)gaA>gaG	p.E168E	MIR3620_ENST00000584469.1_RNA|C1orf35_ENST00000472617.1_5'Flank|ARF1_ENST00000540651.1_Silent_p.E168E|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Silent_p.E168E	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	168					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.E168E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				GGCTCTATGAAGGACTGGACT	0.597																																						uc001hrr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(502-504)GAA>GAG		ADP-ribosylation factor 1							68.0	60.0	63.0					1																	228285672		2203	4300	6503	SO:0001819	synonymous_variant	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228285672A>G	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.504A>G	1.37:g.228285672A>G						ARF1_uc001hrs.2_Silent_p.E168E|ARF1_uc001hrt.2_3'UTR|ARF1_uc009xev.2_RNA|ARF1_uc001hru.2_Silent_p.E168E|ARF1_uc001hrv.2_Silent_p.E168E|ARF1_uc001hrw.2_Silent_p.E168E	p.E168E	NM_001024226	NP_001019397	P84077	ARF1_HUMAN			5	732	+		Prostate(94;0.0405)	168					P10947|P32889	Silent	SNP	ENST00000541182.1	37	c.504A>G	CCDS1565.1																																																																																				PASS	0.597	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		12	69	12	69	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228495998	228495998	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:228495998G>T	ENST00000422127.1	+	47	12697	c.12653G>T	c.(12652-12654)cGg>cTg	p.R4218L	OBSCN_ENST00000570156.2_Missense_Mutation_p.R5175L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1337L|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1852L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4218L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4218	Ig-like 43.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R4800L(1)|p.R4930L(1)|p.R4218L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACACCCTGCGGCTGAAGGGC	0.642																																						uc009xez.1																			3	Substitution - Missense(3)		lung(3)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(12652-12654)CGG>CTG		obscurin, cytoskeletal calmodulin and							40.0	46.0	44.0					1																	228495998		2140	4230	6370	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228495998G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12653G>T	1.37:g.228495998G>T	ENSP00000409493:p.Arg4218Leu					OBSCN_uc001hsn.2_Missense_Mutation_p.R4218L	p.R4218L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			47	12697	+		Prostate(94;0.0405)	4218			Ig-like 43.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.12653G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956787	0.53293	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	6.04	0.422	0.16457	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.622350	0.13192	N	0.406692	T	0.50973	0.1647	L	0.33093	0.98	0.09310	N	1	P;D	0.54601	0.929;0.967	P;B	0.49085	0.6;0.438	T	0.42832	-0.9428	10	0.10377	T	0.69	.	1.9679	0.03399	0.437:0.1252:0.3109:0.1269	.	4218;4218	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	4218;4218;1852;1337	ENSP00000284548:R4218L;ENSP00000409493:R4218L;ENSP00000355668:R1852L;ENSP00000355670:R1337L	ENSP00000284548:R4218L	R	+	2	0	OBSCN	226562621	0.000000	0.05858	0.389000	0.26208	0.002000	0.02628	-0.186000	0.09670	0.036000	0.15547	0.563000	0.77884	CGG		PASS	0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	24	7	24	---	---	---	---
HIST3H2A	92815	broad.mit.edu	37	1	228645302	228645302	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:228645302C>T	ENST00000366695.2	-	1	258	c.217G>A	c.(217-219)Gac>Aac	p.D73N	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	73					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)	p.D73N(1)		endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				TTCTTGTTGTCGCGCGCCGCG	0.682																																						uc001hsy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(217-219)GAC>AAC		histone cluster 3, H2a							67.0	63.0	64.0					1																	228645302		2203	4299	6502	SO:0001583	missense	92815				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645302C>T	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.217G>A	1.37:g.228645302C>T	ENSP00000355656:p.Asp73Asn					HIST3H2BB_uc001hsz.2_5'Flank	p.D73N	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN			1	259	-		Prostate(94;0.183)	73					B2R4S4	Missense_Mutation	SNP	ENST00000366695.2	37	c.217G>A	CCDS1573.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.988446	0.74589	.	.	ENSG00000181218	ENST00000366695	T	0.67345	-0.26	3.84	3.84	0.44239	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.50627	D	0.000102	D	0.84933	0.5582	M	0.93808	3.46	0.40754	D	0.98294	D	0.76494	0.999	D	0.72338	0.977	D	0.89115	0.3499	10	0.72032	D	0.01	.	14.0829	0.64937	0.0:1.0:0.0:0.0	.	73	Q7L7L0	H2A3_HUMAN	N	73	ENSP00000355656:D73N	ENSP00000355656:D73N	D	-	1	0	HIST3H2A	226711925	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.324000	0.59228	2.435000	0.82474	0.655000	0.94253	GAC		PASS	0.682	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445		17	82	17	82	---	---	---	---
RHOU	58480	broad.mit.edu	37	1	228879380	228879380	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:228879380C>G	ENST00000366691.3	+	3	1336	c.670C>G	c.(670-672)Caa>Gaa	p.Q224E		NM_021205.5	NP_067028.1			ras homolog family member U									p.Q224E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CGCTGGCATTCAATACTCGGA	0.473																																						uc001htf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)CAA>GAA		ras homolog gene family, member U							97.0	109.0	105.0					1																	228879380		2203	4300	6503	SO:0001583	missense	58480				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	g.chr1:228879380C>G		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.670C>G	1.37:g.228879380C>G	ENSP00000355652:p.Gln224Glu						p.Q224E	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN			3	1291	+	Breast(184;0.162)	Prostate(94;0.183)	224						Missense_Mutation	SNP	ENST00000366691.3	37	c.670C>G	CCDS1575.1	.	.	.	.	.	.	.	.	.	.	C	3.784	-0.045123	0.07452	.	.	ENSG00000116574	ENST00000366691	T	0.66815	-0.23	4.95	4.95	0.65309	.	0.119933	0.64402	D	0.000010	T	0.35653	0.0939	N	0.01522	-0.82	0.48901	D	0.999724	B	0.06786	0.001	B	0.04013	0.001	T	0.44190	-0.9344	10	0.02654	T	1	.	15.6948	0.77488	0.0:1.0:0.0:0.0	.	224	Q7L0Q8	RHOU_HUMAN	E	224	ENSP00000355652:Q224E	ENSP00000355652:Q224E	Q	+	1	0	RHOU	226946003	1.000000	0.71417	0.977000	0.42913	0.864000	0.49448	5.570000	0.67398	2.557000	0.86248	0.655000	0.94253	CAA		PASS	0.473	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205		12	184	12	184	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229783477	229783477	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:229783477C>G	ENST00000258243.2	+	7	4263	c.4127C>G	c.(4126-4128)tCa>tGa	p.S1376*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1376						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S1376*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTGCTCTTCTCAATCCTGCAG	0.552																																						uc001hts.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(4126-4128)TCA>TGA		URB2 ribosome biogenesis 2 homolog							91.0	85.0	87.0					1																	229783477		2203	4300	6503	SO:0001587	stop_gained	9816					nucleolus		g.chr1:229783477C>G	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4127C>G	1.37:g.229783477C>G	ENSP00000258243:p.Ser1376*					URB2_uc009xfd.1_Nonsense_Mutation_p.S1376*	p.S1376*	NM_014777	NP_055592	Q14146	URB2_HUMAN			7	4263	+			1376					Q5VYC9	Nonsense_Mutation	SNP	ENST00000258243.2	37	c.4127C>G	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	45	11.435403	0.99560	.	.	ENSG00000135763	ENST00000258243	.	.	.	5.82	5.82	0.92795	.	0.287528	0.39341	N	0.001386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5418	20.0852	0.97797	0.0:1.0:0.0:0.0	.	.	.	.	X	1376	.	.	S	+	2	0	URB2	227850100	0.996000	0.38824	0.480000	0.27341	0.958000	0.62258	4.957000	0.63652	2.756000	0.94617	0.561000	0.74099	TCA		PASS	0.552	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		6	170	6	170	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229795041	229795041	+	Silent	SNP	C	C	G	rs9988520		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:229795041C>G	ENST00000258243.2	+	10	4708	c.4572C>G	c.(4570-4572)gcC>gcG	p.A1524A		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1524						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.A1524A(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GATATACGGCCTAAGGCTATG	0.468																																						uc001hts.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(4570-4572)GCC>GCG		URB2 ribosome biogenesis 2 homolog							78.0	83.0	81.0					1																	229795041		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229795041C>G	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4572C>G	1.37:g.229795041C>G						URB2_uc009xfd.1_Silent_p.A1524A	p.A1524A	NM_014777	NP_055592	Q14146	URB2_HUMAN			10	4708	+			1524					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.4572C>G	CCDS31052.1																																																																																				PASS	0.468	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		74	120	74	120	---	---	---	---
SLC35F3	148641	broad.mit.edu	37	1	234458779	234458779	+	Silent	SNP	C	C	A	rs200588563		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:234458779C>A	ENST00000366617.3	+	7	1284	c.1056C>A	c.(1054-1056)atC>atA	p.I352I	SLC35F3_ENST00000366618.3_Silent_p.I421I			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	352					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.I421I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCAGTCAGATCGTCTTCAATG	0.577																																						uc001hwa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1054-1056)ATC>ATA		solute carrier family 35, member F3		C		0,4406		0,0,2203	136.0	109.0	118.0		1263	-10.8	0.6	1		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC35F3	NM_173508.2		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		421/491	234458779	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	148641				transport	integral to membrane		g.chr1:234458779C>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.1056C>A	1.37:g.234458779C>A						SLC35F3_uc001hvy.1_Silent_p.I421I	p.I352I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		7	1284	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	352			Helical; (Potential).		Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366617.3	37	c.1056C>A																																																																																					PASS	0.577	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		24	109	24	109	---	---	---	---
GGPS1	9453	broad.mit.edu	37	1	235505377	235505377	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:235505377G>C	ENST00000282841.5	+	4	425	c.193G>C	c.(193-195)Gat>Cat	p.D65H	GGPS1_ENST00000476121.1_Missense_Mutation_p.D65H|GGPS1_ENST00000391855.2_Missense_Mutation_p.D11H|GGPS1_ENST00000358966.2_Missense_Mutation_p.D65H|GGPS1_ENST00000488594.1_Missense_Mutation_p.D65H			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	65					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)	p.D65H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	ACTCATCGATGATATTGAAGA	0.348																																						uc001hwv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(193-195)GAT>CAT		geranylgeranyl diphosphate synthase 1 isoform A							48.0	46.0	46.0					1																	235505377		2203	4299	6502	SO:0001583	missense	9453				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:235505377G>C	AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.193G>C	1.37:g.235505377G>C	ENSP00000282841:p.Asp65His					GGPS1_uc001hww.2_Missense_Mutation_p.D65H|GGPS1_uc001hwx.2_Missense_Mutation_p.D11H|GGPS1_uc001hwy.2_Missense_Mutation_p.D65H	p.D65H	NM_001037277	NP_001032354	O95749	GGPPS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		4	277	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	65					A8MVQ8|Q5T2C8|Q6NW19	Missense_Mutation	SNP	ENST00000282841.5	37	c.193G>C	CCDS1604.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663012	0.88251	.	.	ENSG00000152904	ENST00000488594;ENST00000471812;ENST00000358966;ENST00000282841;ENST00000391855;ENST00000476121;ENST00000497327	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	6.17	6.17	0.99709	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97346	0.9960	10	0.87932	D	0	-26.7644	20.8794	0.99867	0.0:0.0:1.0:0.0	.	65	O95749	GGPPS_HUMAN	H	65;65;65;65;11;65;65	ENSP00000418690:D65H;ENSP00000417772:D65H;ENSP00000351852:D65H;ENSP00000282841:D65H;ENSP00000375728:D11H;ENSP00000420183:D65H;ENSP00000417865:D65H	ENSP00000282841:D65H	D	+	1	0	GGPS1	233572000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.348	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092656.1	NM_004837		3	103	3	103	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235827887	235827887	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:235827887C>G	ENST00000389794.3	-	51	11247	c.11073G>C	c.(11071-11073)gtG>gtC	p.V3691V	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.V3691V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3691					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.V3691V(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GATCCCCGTTCACCGTCCAGA	0.557																																						uc001hxj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(11071-11073)GTG>GTC		lysosomal trafficking regulator							89.0	77.0	81.0					1																	235827887		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235827887C>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.11073G>C	1.37:g.235827887C>G						LYST_uc001hxi.2_Silent_p.V915V	p.V3691V	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		51	11248	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3691			WD 5.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.11073G>C	CCDS31062.1																																																																																				PASS	0.557	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			7	107	7	107	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235929511	235929511	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:235929511C>A	ENST00000389794.3	-	21	6163	c.5989G>T	c.(5989-5991)Gca>Tca	p.A1997S	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.A1997S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1997					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.A1997S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGGACTTCTGCTATAATTTTC	0.358																																						uc001hxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(5989-5991)GCA>TCA		lysosomal trafficking regulator							146.0	161.0	156.0					1																	235929511		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235929511C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5989G>T	1.37:g.235929511C>A	ENSP00000374444:p.Ala1997Ser					LYST_uc009xgb.1_Intron|LYST_uc010pxs.1_RNA	p.A1997S	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		21	6164	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1997					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.5989G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917957	0.33815	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61859	0.07;0.07	5.36	4.39	0.52855	.	0.358724	0.32028	N	0.006699	T	0.44222	0.1283	L	0.36672	1.1	0.80722	D	1	P	0.35328	0.495	B	0.25140	0.058	T	0.40421	-0.9564	10	0.25751	T	0.34	.	16.6627	0.85245	0.0:0.8705:0.1295:0.0	.	1997	Q99698	LYST_HUMAN	S	1997	ENSP00000374444:A1997S;ENSP00000374443:A1997S	ENSP00000374443:A1997S	A	-	1	0	LYST	233996134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.697000	0.61782	2.669000	0.90835	0.585000	0.79938	GCA		PASS	0.358	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			59	456	59	456	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235955020	235955020	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:235955020C>A	ENST00000389794.3	-	12	4696	c.4522G>T	c.(4522-4524)Gat>Tat	p.D1508Y	LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Missense_Mutation_p.D1508Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1508					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.D1508Y(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAACTGCTATCTGGTAAAATT	0.338																																						uc001hxj.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(4522-4524)GAT>TAT		lysosomal trafficking regulator							155.0	153.0	154.0					1																	235955020		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235955020C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4522G>T	1.37:g.235955020C>A	ENSP00000374444:p.Asp1508Tyr					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_Intron|LYST_uc001hxl.1_Missense_Mutation_p.D1508Y	p.D1508Y	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		12	4697	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1508					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4522G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391208	0.25118	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.65178	-0.14;-0.14	5.76	3.91	0.45181	.	1.053090	0.07222	N	0.861116	T	0.73837	0.3638	L	0.59436	1.845	0.45676	D	0.998599	P;D	0.62365	0.946;0.991	P;P	0.58077	0.77;0.832	T	0.64106	-0.6485	10	0.87932	D	0	.	12.4236	0.55534	0.0:0.8648:0.0:0.1352	.	1508;1508	Q99698-3;Q99698	.;LYST_HUMAN	Y	1508	ENSP00000374444:D1508Y;ENSP00000374443:D1508Y	ENSP00000374443:D1508Y	D	-	1	0	LYST	234021643	0.200000	0.23398	0.008000	0.14137	0.007000	0.05969	3.347000	0.52200	0.909000	0.36697	-0.142000	0.14014	GAT		PASS	0.338	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			26	262	26	262	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237550644	237550644	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:237550644G>T	ENST00000366574.2	+	9	957	c.640G>T	c.(640-642)Gtg>Ttg	p.V214L	RYR2_ENST00000360064.6_Missense_Mutation_p.V212L|RYR2_ENST00000542537.1_Missense_Mutation_p.V198L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	214	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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.V212L(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)			TCTCTGGAGCGTGGCCCCAAT	0.512																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(640-642)GTG>TTG		cardiac muscle ryanodine receptor							110.0	112.0	111.0					1																	237550644		1963	4152	6115	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.chr1:237550644G>T	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.640G>T	1.37:g.237550644G>T	ENSP00000355533:p.Val214Leu						p.V214L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		9	760	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	214			Cytoplasmic (By similarity).|MIR 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.640G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498130	0.85069	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98512	-4.97;-4.97;-4.97	5.43	5.43	0.79202	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.53938	D	0.000053	D	0.98065	0.9362	M	0.66939	2.045	0.80722	D	1	D	0.52996	0.957	P	0.56216	0.794	D	0.97985	1.0351	10	0.72032	D	0.01	.	11.4922	0.50387	0.0837:0.0:0.9163:0.0	.	214	Q92736	RYR2_HUMAN	L	214;212;198	ENSP00000355533:V214L;ENSP00000353174:V212L;ENSP00000443798:V198L	ENSP00000353174:V212L	V	+	1	0	RYR2	235617267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.377000	0.66184	2.557000	0.86248	0.591000	0.81541	GTG		PASS	0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		31	138	31	138	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237580371	237580371	+	Missense_Mutation	SNP	G	G	C	rs373326624		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:237580371G>C	ENST00000366574.2	+	11	1113	c.796G>C	c.(796-798)Gct>Cct	p.A266P	RYR2_ENST00000360064.6_Missense_Mutation_p.A264P|RYR2_ENST00000542537.1_Missense_Mutation_p.A250P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	266	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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.A264T(1)|p.A264P(1)|p.A264S(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)			TGAAGGTGGCGCTGTGTCTGT	0.388																																						uc001hyl.1																			3	Substitution - Missense(3)	p.A264T(1)	lung(2)|pancreas(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(796-798)GCT>CCT		cardiac muscle ryanodine receptor							130.0	120.0	123.0					1																	237580371		1998	4174	6172	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.chr1:237580371G>C	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.796G>C	1.37:g.237580371G>C	ENSP00000355533:p.Ala266Pro						p.A266P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		11	916	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	266			Cytoplasmic (By similarity).|MIR 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.796G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394228	0.83011	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91631	-2.88;-2.88;-2.88	5.98	5.98	0.97165	MIR motif (2);MIR (2);	0.000000	0.64402	D	0.000013	D	0.95490	0.8535	M	0.69248	2.105	0.80722	D	1	D	0.71674	0.998	D	0.67548	0.952	D	0.93990	0.7266	10	0.39692	T	0.17	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	266	Q92736	RYR2_HUMAN	P	266;264;250	ENSP00000355533:A266P;ENSP00000353174:A264P;ENSP00000443798:A250P	ENSP00000353174:A264P	A	+	1	0	RYR2	235646994	1.000000	0.71417	0.997000	0.53966	0.735000	0.41995	4.660000	0.61511	2.835000	0.97688	0.650000	0.86243	GCT		PASS	0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	102	13	102	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237794799	237794799	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:237794799G>A	ENST00000366574.2	+	42	6830	c.6513G>A	c.(6511-6513)gtG>gtA	p.V2171V	RYR2_ENST00000360064.6_Silent_p.V2169V|RYR2_ENST00000542537.1_Silent_p.V2155V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2171	4 X approximate repeats.				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.V2169V(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)			ACGAGACTGTGATGGAGGTCA	0.448																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6511-6513)GTG>GTA		cardiac muscle ryanodine receptor							108.0	115.0	113.0					1																	237794799		2042	4232	6274	SO:0001819	synonymous_variant	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.chr1:237794799G>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.6513G>A	1.37:g.237794799G>A							p.V2171V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6633	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2171			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6513G>A	CCDS55691.1																																																																																				PASS	0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	63	15	63	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237868518	237868518	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:237868518G>T	ENST00000366574.2	+	67	9772	c.9455G>T	c.(9454-9456)cGt>cTt	p.R3152L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3150L|RYR2_ENST00000542537.1_Missense_Mutation_p.R3136L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3152					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.R3150L(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)			TATAGGCAACGTTCTGCATTA	0.338																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(9454-9456)CGT>CTT		cardiac muscle ryanodine receptor							127.0	115.0	119.0					1																	237868518		1867	4099	5966	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.chr1:237868518G>T	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.9455G>T	1.37:g.237868518G>T	ENSP00000355533:p.Arg3152Leu					RYR2_uc010pxz.1_Missense_Mutation_p.R107L	p.R3152L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		67	9575	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3152					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9455G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849783	0.32699	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	T;D;T	0.90504	-0.69;-2.68;-0.69	4.51	4.51	0.55191	.	0.000000	0.53938	U	0.000048	D	0.87517	0.6197	L	0.45051	1.395	0.80722	D	1	B	0.27910	0.193	B	0.24155	0.051	D	0.86561	0.1841	10	0.62326	D	0.03	.	17.6738	0.88225	0.0:0.0:1.0:0.0	.	3152	Q92736	RYR2_HUMAN	L	3152;3150;3136;107;147	ENSP00000355533:R3152L;ENSP00000353174:R3150L;ENSP00000443798:R3136L	ENSP00000353174:R3150L	R	+	2	0	RYR2	235935141	1.000000	0.71417	0.983000	0.44433	0.308000	0.27856	5.136000	0.64783	2.233000	0.73108	0.650000	0.86243	CGT		PASS	0.338	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	42	9	42	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237949313	237949313	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:237949313C>T	ENST00000366574.2	+	91	13622	c.13305C>T	c.(13303-13305)acC>acT	p.T4435T	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.T4441T|RYR2_ENST00000542537.1_Silent_p.T4419T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4435	Glu-rich (acidic).				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.T4433T(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)			aagaagaaACCAAATCTGAAC	0.363																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13303-13305)ACC>ACT		cardiac muscle ryanodine receptor							119.0	124.0	123.0					1																	237949313		1832	4095	5927	SO:0001819	synonymous_variant	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.chr1:237949313C>T	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.13305C>T	1.37:g.237949313C>T						RYR2_uc010pya.1_Silent_p.T850T	p.T4435T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		91	13425	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4435			Potential.|Glu-rich (acidic).		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.13305C>T	CCDS55691.1																																																																																				PASS	0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	18	3	18	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240374396	240374396	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:240374396C>T	ENST00000319653.9	+	6	4156	c.3926C>T	c.(3925-3927)tCc>tTc	p.S1309F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1309	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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.S1452F(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)			TTTAGAGACTCCAGTACTTCA	0.358																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3925-3927)TCC>TTC		formin 2							84.0	85.0	84.0					1																	240374396		2203	4299	6502	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.chr1:240374396C>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.3926C>T	1.37:g.240374396C>T	ENSP00000318884:p.Ser1309Phe					FMN2_uc010pye.1_Missense_Mutation_p.S1313F	p.S1309F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		6	4151	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1309			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3926C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853337	0.51270	.	.	ENSG00000155816	ENST00000319653	T	0.18174	2.23	4.38	4.38	0.52667	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.102265	0.42821	D	0.000645	T	0.43211	0.1237	M	0.77486	2.375	0.80722	D	1	D	0.65815	0.995	D	0.67103	0.949	T	0.50825	-0.8782	10	0.87932	D	0	.	16.9632	0.86278	0.0:1.0:0.0:0.0	.	1309	Q9NZ56	FMN2_HUMAN	F	1309	ENSP00000318884:S1309F	ENSP00000318884:S1309F	S	+	2	0	FMN2	238441019	0.858000	0.29795	1.000000	0.80357	0.986000	0.74619	3.771000	0.55318	1.992000	0.58205	0.655000	0.94253	TCC		PASS	0.358	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		18	184	18	184	---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243289777	243289777	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:243289777C>T	ENST00000366542.1	-	20	4780	c.4729G>A	c.(4729-4731)Gag>Aag	p.E1577K	CEP170_ENST00000366543.1_Missense_Mutation_p.E1453K|CEP170_ENST00000490813.1_Missense_Mutation_p.E286K|CEP170_ENST00000366544.1_Missense_Mutation_p.E1479K|CEP170_ENST00000481987.1_Missense_Mutation_p.E313K|CEP170_ENST00000468254.1_5'UTR	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1577	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.E1577K(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ACATCTTCCTCTTCCCCATCG	0.403																																						uc001hzs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(4729-4731)GAG>AAG		centrosomal protein 170kDa isoform alpha							34.0	31.0	32.0					1																	243289777		1882	4107	5989	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243289777C>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4729G>A	1.37:g.243289777C>T	ENSP00000355500:p.Glu1577Lys					CEP170_uc001hzt.2_Missense_Mutation_p.E1453K|CEP170_uc001hzu.2_Missense_Mutation_p.E1479K|CEP170_uc001hzr.2_Missense_Mutation_p.E166K|CEP170_uc001hzv.1_Intron	p.E1577K	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		20	5137	-	all_neural(11;0.101)	all_cancers(173;0.003)	1577			Targeting to microtubules.|Targeting to centrosomes.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.4729G>A	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280631	0.40294	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000490813	T;T;T	0.57436	0.46;0.4;0.42	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000003	T	0.58878	0.2153	N	0.22421	0.69	0.49687	D	0.99981	D;D;B	0.61697	0.99;0.99;0.257	D;D;B	0.72982	0.979;0.979;0.043	T	0.57573	-0.7788	9	.	.	.	-16.1075	17.013	0.86411	0.0:1.0:0.0:0.0	.	1479;1453;1577	Q5SW79-3;Q5SW79-2;Q5SW79	.;.;CE170_HUMAN	K	1577;1479;1453;313;286	ENSP00000355500:E1577K;ENSP00000355502:E1479K;ENSP00000355501:E1453K	.	E	-	1	0	CEP170	241356400	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	5.313000	0.65798	2.338000	0.79540	0.305000	0.20034	GAG		PASS	0.403	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		4	43	4	43	---	---	---	---
ZNF695	57116	broad.mit.edu	37	1	247150665	247150665	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:247150665T>C	ENST00000339986.7	-	4	1299	c.1152A>G	c.(1150-1152)gaA>gaG	p.E384E	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	384					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E384E(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTTGCCACATTCCTCACATT	0.408																																						uc009xgu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1150-1152)GAA>GAG		zinc finger protein SBZF3							52.0	57.0	55.0					1																	247150665		2165	4269	6434	SO:0001819	synonymous_variant	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247150665T>C		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1152A>G	1.37:g.247150665T>C						ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	p.E384E	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	1297	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	384			C2H2-type 9.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Silent	SNP	ENST00000339986.7	37	c.1152A>G	CCDS44344.1																																																																																				PASS	0.408	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		19	100	19	100	---	---	---	---
ZNF695	57116	broad.mit.edu	37	1	247150970	247150970	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:247150970G>C	ENST00000339986.7	-	4	994	c.847C>G	c.(847-849)Ctt>Gtt	p.L283V	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	283					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.L283V(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGTTTAGTAAGAACTGAGCAC	0.358																																						uc009xgu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)CTT>GTT		zinc finger protein SBZF3							31.0	32.0	32.0					1																	247150970		2108	4259	6367	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247150970G>C		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.847C>G	1.37:g.247150970G>C	ENSP00000341236:p.Leu283Val					ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	p.L283V	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	992	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	283			C2H2-type 5.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.847C>G	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899606	0.33535	.	.	ENSG00000197472	ENST00000339986	T	0.52983	0.64	0.489	0.489	0.16854	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41213	0.1149	M	0.80982	2.52	0.09310	N	1	P	0.36647	0.563	B	0.30179	0.112	T	0.45086	-0.9285	9	0.66056	D	0.02	.	2.8749	0.05628	0.3849:0.0:0.6151:0.0	.	283	Q8IW36	ZN695_HUMAN	V	283	ENSP00000341236:L283V	ENSP00000341236:L283V	L	-	1	0	ZNF695	245217593	0.698000	0.27777	0.004000	0.12327	0.779000	0.44077	1.031000	0.30165	0.514000	0.28300	0.205000	0.17691	CTT		PASS	0.358	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		10	62	10	62	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247768946	247768946	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:247768946A>T	ENST00000320002.2	+	1	91	c.59A>T	c.(58-60)cAc>cTc	p.H20L	RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H20L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTCTCAGACCACCCTCGTCTG	0.493																																						uc010pyz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(58-60)CAC>CTC		olfactory receptor, family 2, subfamily G,							174.0	180.0	178.0					1																	247768946		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247768946A>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.59A>T	1.37:g.247768946A>T	ENSP00000326301:p.His20Leu						p.H20L	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	59	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		20			Extracellular (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.59A>T	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.864879	0.32977	.	.	ENSG00000177476	ENST00000320002	T	0.02606	4.23	3.64	0.0434	0.14221	.	0.191494	0.25178	U	0.032557	T	0.01835	0.0058	N	0.21097	0.63	0.09310	N	1	B	0.26318	0.146	B	0.24006	0.05	T	0.43637	-0.9379	10	0.56958	D	0.05	.	3.0166	0.06061	0.4458:0.0:0.3541:0.2001	.	20	Q8NGZ4	OR2G3_HUMAN	L	20	ENSP00000326301:H20L	ENSP00000326301:H20L	H	+	2	0	OR2G3	245835569	0.000000	0.05858	0.864000	0.33941	0.952000	0.60782	-3.044000	0.00631	0.137000	0.18759	0.398000	0.26397	CAC		PASS	0.493	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			36	272	36	272	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875804	247875804	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:247875804A>G	ENST00000302084.2	-	1	301	c.254T>C	c.(253-255)cTa>cCa	p.L85P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L85P(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCTCCCCAGTAGGATGGCCAG	0.483																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)CTA>CCA		olfactory receptor, family 6, subfamily F,							114.0	114.0	114.0					1																	247875804		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875804A>G	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.254T>C	1.37:g.247875804A>G	ENSP00000305640:p.Leu85Pro						p.L85P	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	254	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		85			Extracellular (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.254T>C	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	A	9.459	1.092656	0.20471	.	.	ENSG00000169214	ENST00000302084	T	0.00411	7.53	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.208539	0.23991	N	0.042574	T	0.01222	0.0040	M	0.93594	3.435	0.22240	N	0.999265	D	0.64830	0.994	P	0.60173	0.87	T	0.22312	-1.0220	10	0.87932	D	0	-17.3563	7.7429	0.28851	0.8975:0.0:0.1025:0.0	.	85	Q8NGZ6	OR6F1_HUMAN	P	85	ENSP00000305640:L85P	ENSP00000305640:L85P	L	-	2	0	OR6F1	245942427	0.000000	0.05858	0.087000	0.20705	0.066000	0.16364	0.461000	0.21940	1.793000	0.52555	0.482000	0.46254	CTA		PASS	0.483	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		22	161	22	161	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004613	248004613	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:248004613C>T	ENST00000355784.2	-	1	641	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	196						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E196K(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGGTCACCTCGGTGATATAA	0.478																																						uc001idn.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(586-588)GAG>AAG		olfactory receptor, family 11, subfamily L,							95.0	98.0	97.0					1																	248004613		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004613C>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.586G>A	1.37:g.248004613C>T	ENSP00000348033:p.Glu196Lys						p.E196K	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	586	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		196			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.586G>A	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799561	0.31869	.	.	ENSG00000197591	ENST00000355784	T	0.00207	8.55	4.27	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.431022	0.16569	U	0.208726	T	0.00356	0.0011	M	0.62209	1.925	0.09310	N	1	D	0.76494	0.999	D	0.68353	0.957	T	0.50642	-0.8804	10	0.59425	D	0.04	.	6.4527	0.21912	0.0:0.555:0.2745:0.1705	.	196	Q8NGX0	O11L1_HUMAN	K	196	ENSP00000348033:E196K	ENSP00000348033:E196K	E	-	1	0	OR11L1	246071236	0.000000	0.05858	0.002000	0.10522	0.264000	0.26372	-0.664000	0.05292	0.133000	0.18654	-0.385000	0.06624	GAG		PASS	0.478	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		16	180	16	180	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248262678	248262678	+	Start_Codon_SNP	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:248262678A>G	ENST00000358120.2	+	2	146	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	OR2L13_ENST00000366478.2_Start_Codon_SNP_p.M1V			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M1V(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GAAAGTTTTCATGGAGAAATG	0.328																																						uc001ids.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1-3)ATG>GTG		olfactory receptor, family 2, subfamily L,							103.0	100.0	101.0					1																	248262678		2203	4300	6503	SO:0001582	initiator_codon_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262678A>G	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.1A>G	1.37:g.248262678A>G	ENSP00000350836:p.Met1Val						p.M1V	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	338	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		1			Extracellular (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.1A>G	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	A	9.209	1.030465	0.19512	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.04156	3.69;3.69	3.74	2.59	0.31030	.	0.325734	0.24126	N	0.041305	T	0.04952	0.0133	.	.	.	0.80722	D	1	B	0.16396	0.017	B	0.15052	0.012	T	0.30650	-0.9971	9	0.87932	D	0	.	8.3471	0.32279	0.9006:0.0:0.0994:0.0	.	1	Q8N349	OR2LD_HUMAN	V	1	ENSP00000355434:M1V;ENSP00000350836:M1V	ENSP00000350836:M1V	M	+	1	0	OR2L13	246329301	0.030000	0.19436	0.956000	0.39512	0.809000	0.45718	1.369000	0.34227	0.599000	0.29845	0.528000	0.53228	ATG		PASS	0.328	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	Missense_Mutation	62	209	62	209	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525698	248525698	+	Silent	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:248525698C>A	ENST00000366475.1	+	1	816	c.816C>A	c.(814-816)acC>acA	p.T272T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T272T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTTTGCCACCTGCTCCTCCC	0.547																																						uc001ieh.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(814-816)ACC>ACA		olfactory receptor, family 2, subfamily T,							137.0	134.0	135.0					1																	248525698		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525698C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.816C>A	1.37:g.248525698C>A							p.T272T	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	816	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		272			Helical; Name=6; (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.816C>A	CCDS31113.1																																																																																				PASS	0.547	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		85	258	85	258	---	---	---	---
OR2T10	127069	broad.mit.edu	37	1	248756958	248756958	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr1:248756958C>A	ENST00000330500.2	-	1	142	c.112G>T	c.(112-114)Gct>Tct	p.A38S	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A38S(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAGACACAGCCATCAAAAAT	0.443																																						uc010pzn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(112-114)GCT>TCT		olfactory receptor, family 2, subfamily T,							58.0	62.0	61.0					1																	248756958		2044	4234	6278	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756958C>A		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.112G>T	1.37:g.248756958C>A	ENSP00000329210:p.Ala38Ser						p.A38S	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	112	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		38			Helical; Name=1; (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.112G>T	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	10.20	1.283843	0.23392	.	.	ENSG00000184022	ENST00000330500	T	0.00327	8.09	2.34	1.35	0.21983	.	.	.	.	.	T	0.00210	0.0006	L	0.28274	0.84	0.09310	N	1	B	0.29886	0.26	B	0.35114	0.196	T	0.22452	-1.0216	9	0.35671	T	0.21	.	4.7534	0.13071	0.0:0.5532:0.0:0.4468	.	38	Q8NGZ9	O2T10_HUMAN	S	38	ENSP00000329210:A38S	ENSP00000329210:A38S	A	-	1	0	OR2T10	246823581	0.020000	0.18652	0.032000	0.17829	0.027000	0.11550	1.094000	0.30951	1.118000	0.41863	0.441000	0.28932	GCT		PASS	0.443	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		16	116	16	116	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15417012	15417012	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:15417012G>A	ENST00000281513.5	-	43	5377	c.5352C>T	c.(5350-5352)caC>caT	p.H1784H	NBAS_ENST00000441750.1_Silent_p.H1664H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1784				H -> Y (in Ref. 1; AAM93544). {ECO:0000305}.	negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.H1784H(1)|p.H1784Q(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCAGTCGAATGTGGGTTTCTG	0.408																																						uc002rcc.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|pancreas(1)	ovary(2)|liver(1)|skin(1)	4						c.(5350-5352)CAC>CAT		neuroblastoma-amplified protein							95.0	88.0	90.0					2																	15417012		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15417012G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5352C>T	2.37:g.15417012G>A						NBAS_uc010exl.1_Silent_p.H856H|NBAS_uc002rcd.1_RNA	p.H1784H	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			43	5378	-			1784	H -> Y (in Ref. 1; AAM93544).				O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.5352C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	8.594	0.885200	0.17540	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.61	1.79	0.24919	.	.	.	.	.	T	0.59211	0.2177	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52223	-0.8604	4	.	.	.	.	10.5604	0.45142	0.2619:0.0:0.7381:0.0	.	.	.	.	I	832	.	.	T	-	2	0	NBAS	15334463	1.000000	0.71417	0.932000	0.37286	0.961000	0.63080	0.712000	0.25779	0.125000	0.18397	0.655000	0.94253	ACA		PASS	0.408	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		16	103	16	103	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898106	17898106	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:17898106T>A	ENST00000448223.2	-	14	1517	c.1248A>T	c.(1246-1248)agA>agT	p.R416S	SMC6_ENST00000402989.1_Missense_Mutation_p.R416S|SMC6_ENST00000381272.4_Missense_Mutation_p.R442S|SMC6_ENST00000351948.4_Missense_Mutation_p.R416S	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	416					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.R416S(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGGCCTTTACTCTCTCTTTTA	0.338																																						uc002rco.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6						c.(1246-1248)AGA>AGT		SMC6 protein							122.0	115.0	117.0					2																	17898106		2203	4299	6502	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17898106T>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1248A>T	2.37:g.17898106T>A	ENSP00000404092:p.Arg416Ser					SMC6_uc010exo.2_Missense_Mutation_p.R416S|SMC6_uc002rcn.2_Missense_Mutation_p.R416S|SMC6_uc002rcp.1_Missense_Mutation_p.R442S|SMC6_uc002rcq.2_Missense_Mutation_p.R442S|SMC6_uc002rcr.1_Missense_Mutation_p.R416S	p.R416S	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN			14	1544	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		416			Potential.		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.1248A>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.835859	0.50951	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.28666	1.65;1.65;1.65;1.65;1.6	5.79	4.66	0.58398	RecF/RecN/SMC (1);	0.455157	0.28171	N	0.016326	T	0.22044	0.0531	L	0.39898	1.24	0.09310	N	1	B;B;B	0.22541	0.071;0.006;0.036	B;B;B	0.30943	0.047;0.016;0.122	T	0.13791	-1.0496	10	0.22706	T	0.39	.	3.3392	0.07113	0.0:0.329:0.0:0.671	.	442;442;416	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	S	416;416;442;416;442	ENSP00000404092:R416S;ENSP00000323439:R416S;ENSP00000370672:R442S;ENSP00000384539:R416S;ENSP00000408644:R442S	ENSP00000323439:R416S	R	-	3	2	SMC6	17761587	0.991000	0.36638	0.331000	0.25455	0.795000	0.44927	3.571000	0.53841	2.212000	0.71576	0.459000	0.35465	AGA		PASS	0.338	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		25	122	25	122	---	---	---	---
NT5C1B	93034	broad.mit.edu	37	2	18770719	18770719	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:18770719G>A	ENST00000359846.2	-	1	93	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F	NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Missense_Mutation_p.L6F|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.L6F|NT5C1B_ENST00000304081.4_Missense_Mutation_p.L6F	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	6					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.L6F(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTCTGTTTGAGAGATGTTTGA	0.418																																						uc002rcz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(16-18)CTC>TTC		5' nucleotidase, cytosolic IB isoform 1							198.0	183.0	188.0					2																	18770719		2203	4300	6503	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18770719G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.16C>T	2.37:g.18770719G>A	ENSP00000352904:p.Leu6Phe					NT5C1B_uc002rcy.2_Missense_Mutation_p.L6F|NT5C1B_uc010exr.2_Missense_Mutation_p.L6F|NT5C1B_uc010yju.1_Intron|NT5C1B_uc002rda.2_Missense_Mutation_p.L6F|NT5C1B_uc010yjv.1_Missense_Mutation_p.L6F|NT5C1B_uc010yjw.1_Missense_Mutation_p.L6F|NT5C1B_uc010exs.2_Missense_Mutation_p.L6F	p.L6F	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			1	120	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	6					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.16C>T	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878107	0.51801	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.93953	-3.32	5.45	-0.896	0.10557	.	0.200365	0.24801	N	0.035488	D	0.90314	0.6970	N	0.24115	0.695	0.19575	N	0.999962	P;D;P;D;D;D;D	0.67145	0.811;0.993;0.903;0.986;0.996;0.993;0.996	B;P;P;P;P;P;P	0.62298	0.326;0.796;0.534;0.796;0.9;0.796;0.9	T	0.82392	-0.0480	10	0.72032	D	0.01	-1.5583	4.6038	0.12366	0.3401:0.2904:0.3695:0.0	.	6;6;6;6;6;6;6	E7EXB7;B4DZ86;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;5NT1B_HUMAN;.	F	6	ENSP00000412639:L6F	ENSP00000305979:L6F	L	-	1	0	NT5C1B-RDH14;NT5C1B	18634200	0.210000	0.23517	0.206000	0.23566	0.914000	0.54420	-0.090000	0.11163	-0.239000	0.09710	-0.176000	0.13171	CTC		PASS	0.418	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			22	205	22	205	---	---	---	---
PTRHD1	391356	broad.mit.edu	37	2	25016063	25016063	+	Missense_Mutation	SNP	G	G	A	rs553276736	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:25016063G>A	ENST00000328379.5	-	1	188	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	PTRHD1_ENST00000487316.1_5'Flank|CENPO_ENST00000260662.1_5'Flank|CENPO_ENST00000473706.1_5'UTR|CENPO_ENST00000380834.2_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	62						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)	p.H62Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						TGGTCGCGGTGAGTGTGCAAG	0.657																																						uc002rfm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)CAC>TAC		hypothetical protein LOC391356							41.0	44.0	43.0					2																	25016063		2202	4299	6501	SO:0001583	missense	391356				translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity	g.chr2:25016063G>A		CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 79"""	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.184C>T	2.37:g.25016063G>A	ENSP00000330389:p.His62Tyr					CENPO_uc002rfn.2_5'Flank|CENPO_uc002rfo.1_5'Flank|CENPO_uc002rfp.1_5'Flank|CENPO_uc002rfq.1_5'Flank	p.H62Y	NM_001013663	NP_001013685	Q6GMV3	PTRD1_HUMAN			1	189	-			62						Missense_Mutation	SNP	ENST00000328379.5	37	c.184C>T	CCDS33156.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601704	0.28534	.	.	ENSG00000184924	ENST00000328379	T	0.11277	2.79	6.06	4.27	0.50696	Peptidyl-tRNA hydrolase II domain (2);	0.050390	0.85682	N	0.000000	T	0.08403	0.0209	N	0.25890	0.77	0.80722	D	1	P	0.46784	0.884	P	0.45794	0.493	T	0.08249	-1.0731	10	0.02654	T	1	.	11.7248	0.51704	0.1441:0.0:0.8559:0.0	.	62	Q6GMV3	PTRD1_HUMAN	Y	62	ENSP00000330389:H62Y	ENSP00000330389:H62Y	H	-	1	0	PTRHD1	24869567	1.000000	0.71417	0.987000	0.45799	0.837000	0.47467	1.025000	0.30090	1.589000	0.49982	-0.126000	0.14955	CAC		PASS	0.657	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663		10	51	10	51	---	---	---	---
KHK	3795	broad.mit.edu	37	2	27320448	27320448	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:27320448G>C	ENST00000260599.6	+	5	1008	c.495G>C	c.(493-495)aaG>aaC	p.K165N	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.K165N	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	165					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)	p.K165N(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGCAGAAGATCCGGGTGT	0.612																																						uc002ril.2																			2	Substitution - Missense(2)		lung(2)		0						c.(493-495)AAG>AAC		ketohexokinase isoform a							81.0	73.0	76.0					2																	27320448		2203	4300	6503	SO:0001583	missense	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27320448G>C		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.495G>C	2.37:g.27320448G>C	ENSP00000260599:p.Lys165Asn					KHK_uc002rim.2_Missense_Mutation_p.K165N|KHK_uc002rin.2_Missense_Mutation_p.K166N|KHK_uc002rio.2_Missense_Mutation_p.K81N	p.K165N	NM_000221	NP_000212	P50053	KHK_HUMAN			5	1012	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		165					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.495G>C	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039751	0.19669	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.61627	0.09;0.09;0.09	5.93	5.05	0.67936	Carbohydrate/purine kinase (1);	0.370207	0.32218	N	0.006419	T	0.50205	0.1602	M	0.65975	2.015	0.31477	N	0.667603	B;B;P;B	0.38078	0.435;0.43;0.617;0.43	B;B;B;B	0.33254	0.111;0.043;0.16;0.043	T	0.57871	-0.7736	10	0.23891	T	0.37	-14.1049	10.025	0.42066	0.0:0.15:0.6944:0.1556	.	165;165;165;165	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	N	165;165;210	ENSP00000260599:K165N;ENSP00000260598:K165N;ENSP00000404741:K210N	ENSP00000260598:K165N	K	+	3	2	KHK	27173952	0.016000	0.18221	0.908000	0.35775	0.161000	0.22273	0.168000	0.16622	1.493000	0.48517	0.655000	0.94253	AAG		PASS	0.612	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			8	122	8	122	---	---	---	---
DNAJC5G	285126	broad.mit.edu	37	2	27500880	27500880	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:27500880C>G	ENST00000296097.3	+	4	790	c.372C>G	c.(370-372)ttC>ttG	p.F124L	SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.F124L|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.F108L	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	124						membrane (GO:0016020)		p.F124L(1)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGTTGGTTCAAGGTACACA	0.398																																						uc002rjl.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(370-372)TTC>TTG		DnaJ (Hsp40) homolog, subfamily C, member 5							69.0	69.0	69.0					2																	27500880		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27500880C>G	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.372C>G	2.37:g.27500880C>G	ENSP00000296097:p.Phe124Leu					SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.F124L	p.F124L	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN			4	790	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		124					B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	c.372C>G	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022625	0.75275	.	.	ENSG00000163793	ENST00000296097;ENST00000402462;ENST00000404433	T;T;T	0.74737	-0.87;-0.87;-0.87	4.96	4.96	0.65561	.	0.000000	0.52532	D	0.000067	T	0.79435	0.4445	L	0.59436	1.845	0.80722	D	1	D	0.67145	0.996	P	0.60473	0.875	T	0.76822	-0.2817	10	0.29301	T	0.29	.	10.8972	0.47029	0.1878:0.8122:0.0:0.0	.	124	Q8N7S2	DNJ5G_HUMAN	L	124;124;108	ENSP00000296097:F124L;ENSP00000384305:F124L;ENSP00000385829:F108L	ENSP00000296097:F124L	F	+	3	2	DNAJC5G	27354384	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	0.612000	0.24283	2.283000	0.76528	0.563000	0.77884	TTC		PASS	0.398	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		6	198	6	198	---	---	---	---
NRBP1	29959	broad.mit.edu	37	2	27659661	27659661	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:27659661G>T	ENST00000233557.3	+	9	1535	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	NRBP1_ENST00000379863.3_Nonsense_Mutation_p.E243*|NRBP1_ENST00000379852.3_Nonsense_Mutation_p.E235*			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.E235*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GACTTGTCGAGAAGAGCAGAA	0.483																																						uc002rko.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(703-705)GAA>TAA		nuclear receptor binding protein							127.0	109.0	115.0					2																	27659661		2203	4300	6503	SO:0001587	stop_gained	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27659661G>T	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.703G>T	2.37:g.27659661G>T	ENSP00000233557:p.Glu235*					NRBP1_uc002rkq.2_Nonsense_Mutation_p.E235*|NRBP1_uc002rkp.2_Nonsense_Mutation_p.E235*|NRBP1_uc002rkr.2_Nonsense_Mutation_p.E26*	p.E235*	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN			9	1535	+	Acute lymphoblastic leukemia(172;0.155)		235			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Nonsense_Mutation	SNP	ENST00000233557.3	37	c.703G>T	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	44	10.770476	0.99464	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	.	.	.	5.69	4.82	0.62117	.	0.047345	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.723	13.4379	0.61094	0.0761:0.0:0.9239:0.0	.	.	.	.	X	235;215;235;243	.	ENSP00000233557:E235X	E	+	1	0	NRBP1	27513165	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.869000	0.99810	1.420000	0.47138	-0.140000	0.14226	GAA		PASS	0.483	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		35	63	35	63	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27800538	27800538	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:27800538A>G	ENST00000408964.2	+	1	1150	c.1099A>G	c.(1099-1101)Aag>Gag	p.K367E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	367						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.K367E(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTTGACTTCTAAGTCAGGAGT	0.463																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1099-1101)AAG>GAG		hypothetical protein LOC84226							68.0	65.0	66.0					2																	27800538		1907	4120	6027	SO:0001583	missense	84226							g.chr2:27800538A>G	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1099A>G	2.37:g.27800538A>G	ENSP00000386190:p.Lys367Glu						p.K367E	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	1150	+	Acute lymphoblastic leukemia(172;0.155)		367					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1099A>G	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	0.057	-1.234442	0.01505	.	.	ENSG00000221843	ENST00000408964	T	0.05717	3.4	3.69	-2.93	0.05598	.	.	.	.	.	T	0.02119	0.0066	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46233	-0.9206	9	0.02654	T	1	.	8.6061	0.33773	0.648:0.0:0.352:0.0	.	367	Q68DN1	CB016_HUMAN	E	367	ENSP00000386190:K367E	ENSP00000386190:K367E	K	+	1	0	C2orf16	27654042	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	-0.399000	0.07250	-0.510000	0.06523	-1.064000	0.02280	AAG		PASS	0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		13	80	13	80	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27802036	27802036	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:27802036C>G	ENST00000408964.2	+	1	2648	c.2597C>G	c.(2596-2598)tCt>tGt	p.S866C	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	866						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.S866C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTCATCAAGTCTTTCCCGGGC	0.473																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(2596-2598)TCT>TGT		hypothetical protein LOC84226							54.0	59.0	57.0					2																	27802036		2064	4228	6292	SO:0001583	missense	84226							g.chr2:27802036C>G	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2597C>G	2.37:g.27802036C>G	ENSP00000386190:p.Ser866Cys						p.S866C	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	2648	+	Acute lymphoblastic leukemia(172;0.155)		866					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2597C>G	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763381	0.49574	.	.	ENSG00000221843	ENST00000408964	T	0.12569	2.67	5.51	3.73	0.42828	.	.	.	.	.	T	0.17746	0.0426	L	0.32530	0.975	0.09310	N	1	D	0.57257	0.979	P	0.53062	0.717	T	0.07578	-1.0765	9	0.87932	D	0	.	8.4586	0.32915	0.0:0.8217:0.0:0.1783	.	866	Q68DN1	CB016_HUMAN	C	866	ENSP00000386190:S866C	ENSP00000386190:S866C	S	+	2	0	C2orf16	27655540	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	1.024000	0.30077	0.707000	0.31934	-0.186000	0.12905	TCT		PASS	0.473	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		20	92	20	92	---	---	---	---
WDR43	23160	broad.mit.edu	37	2	29158396	29158396	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:29158396C>G	ENST00000407426.3	+	12	1503	c.1447C>G	c.(1447-1449)Caa>Gaa	p.Q483E		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	483						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q526E(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GAAAGTACTTCAAACTAGGAA	0.318																																						uc002rmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1447-1449)CAA>GAA		WD repeat domain 43							98.0	93.0	94.0					2																	29158396		1818	4075	5893	SO:0001583	missense	23160					nucleolus		g.chr2:29158396C>G	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1447C>G	2.37:g.29158396C>G	ENSP00000384302:p.Gln483Glu						p.Q483E	NM_015131	NP_055946	Q15061	WDR43_HUMAN			12	1479	+	Acute lymphoblastic leukemia(172;0.155)		483					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.1447C>G	CCDS46251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.71|11.71	1.718799|1.718799	0.30503|0.30503	.|.	.|.	ENSG00000163811|ENSG00000163811	ENST00000446643|ENST00000407426	.|T	.|0.74632	.|-0.86	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.118030	.|0.64402	.|D	.|0.000013	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.64997|0.64997	1.995|1.995	0.41296|0.41296	D|D	0.987016|0.987016	.|P	.|0.45428	.|0.858	.|P	.|0.45195	.|0.473	T|T	0.70651|0.70651	-0.4813|-0.4813	5|10	.|0.22109	.|T	.|0.4	-17.6878|-17.6878	14.3401|14.3401	0.66619|0.66619	0.0:0.9271:0.0:0.0729|0.0:0.9271:0.0:0.0729	.|.	.|483	.|Q15061	.|WDR43_HUMAN	L|E	34|483	.|ENSP00000384302:Q483E	.|ENSP00000384302:Q483E	F|Q	+|+	3|1	2|0	WDR43|WDR43	29011900|29011900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.266000|0.266000	0.26442|0.26442	2.944000|2.944000	0.49034|0.49034	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	TTC|CAA		PASS	0.318	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		19	107	19	107	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29296852	29296852	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:29296852C>T	ENST00000331664.5	-	1	275	c.276G>A	c.(274-276)ctG>ctA	p.L92L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	92					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.L92L(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCCTGGGATCAGTCCTTCCA	0.488																																						uc002rmt.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(274-276)CTG>CTA		hypothetical protein LOC388939							241.0	226.0	231.0					2																	29296852		1952	4144	6096	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296852C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.276G>A	2.37:g.29296852C>T							p.L92L	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	276	-			92						Silent	SNP	ENST00000331664.5	37	c.276G>A	CCDS42669.1																																																																																				PASS	0.488	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		41	271	41	271	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31590862	31590862	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:31590862T>C	ENST00000379416.3	-	20	2210	c.2162A>G	c.(2161-2163)aAg>aGg	p.K721R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	721					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.K721R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AAACCCCTTCTTTAGGTCCCC	0.443																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(2161-2163)AAG>AGG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						224.0	211.0	216.0					2																	31590862		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31590862T>C	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2162A>G	2.37:g.31590862T>C	ENSP00000368727:p.Lys721Arg						p.K721R	NM_000379	NP_000370	P47989	XDH_HUMAN			20	2241	-	Acute lymphoblastic leukemia(172;0.155)		721					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2162A>G	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170750	0.57584	.	.	ENSG00000158125	ENST00000379416	T	0.38077	1.16	6.02	4.87	0.63330	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.256528	0.46145	D	0.000313	T	0.25680	0.0625	N	0.17594	0.5	0.29144	N	0.87885	B	0.23316	0.083	B	0.27380	0.079	T	0.21415	-1.0246	10	0.72032	D	0.01	.	11.6111	0.51059	0.0:0.0:0.1587:0.8412	.	721	P47989	XDH_HUMAN	R	721	ENSP00000368727:K721R	ENSP00000368727:K721R	K	-	2	0	XDH	31444366	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.628000	0.46477	1.100000	0.41517	0.533000	0.62120	AAG		PASS	0.443	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		95	237	95	237	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32476252	32476252	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:32476252G>C	ENST00000404025.2	-	5	1169	c.681C>G	c.(679-681)atC>atG	p.I227M	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.I227M|NLRC4_ENST00000402280.1_Missense_Mutation_p.I227M			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	227	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.I227M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTGCTTCCTGATTGTGCCAG	0.498																																						uc002roi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(679-681)ATC>ATG		caspase recruitment domain protein 12							75.0	79.0	78.0					2																	32476252		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476252G>C	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.681C>G	2.37:g.32476252G>C	ENSP00000385090:p.Ile227Met					NLRC4_uc002roj.1_Missense_Mutation_p.I227M|NLRC4_uc010ezt.1_Intron	p.I227M	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	927	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		227			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.681C>G	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	1.504	-0.551355	0.03996	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.24350	1.86;1.86;1.86	3.27	1.2	0.21068	NACHT nucleoside triphosphatase (1);	0.989721	0.08204	N	0.981822	T	0.20861	0.0502	L	0.55990	1.75	0.25367	N	0.988737	P	0.41393	0.748	B	0.38562	0.276	T	0.28933	-1.0028	9	0.44086	T	0.13	-2.5714	1.4655	0.02405	0.1261:0.1729:0.4114:0.2896	.	227	Q9NPP4	NLRC4_HUMAN	M	227	ENSP00000354159:I227M;ENSP00000385428:I227M;ENSP00000385090:I227M	ENSP00000354159:I227M	I	-	3	3	NLRC4	32329756	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.005000	0.12855	0.712000	0.32039	0.543000	0.68304	ATC		PASS	0.498	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		24	120	24	120	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37229651	37229651	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:37229651G>C	ENST00000233099.5	-	32	5210	c.5115C>G	c.(5113-5115)ctC>ctG	p.L1705L	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1705						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L1705L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTCCAGGAATGAGACCACCGC	0.438																																						uc002rpp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(5113-5115)CTC>CTG		HEAT repeat containing 5B							117.0	111.0	113.0					2																	37229651		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37229651G>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5115C>G	2.37:g.37229651G>C						HEATR5B_uc002rpo.1_Silent_p.L18L|HEATR5B_uc010ezy.1_Intron	p.L1705L	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			32	5211	-		all_hematologic(82;0.21)	1705					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5115C>G	CCDS33181.1																																																																																				PASS	0.438	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		23	147	23	147	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37276911	37276911	+	Missense_Mutation	SNP	G	G	C	rs374061065		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:37276911G>C	ENST00000233099.5	-	18	2676	c.2581C>G	c.(2581-2583)Ctg>Gtg	p.L861V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L861V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	861						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L861V(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GGGTTGTCCAGAGGACCCATA	0.438																																						uc002rpp.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(2581-2583)CTG>GTG		HEAT repeat containing 5B							89.0	80.0	83.0					2																	37276911		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37276911G>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2581C>G	2.37:g.37276911G>C	ENSP00000233099:p.Leu861Val						p.L861V	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			18	2677	-		all_hematologic(82;0.21)	861			HEAT 1.		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2581C>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349000	0.61183	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.11604	2.76;2.76	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	L	0.56769	1.78	0.58432	D	0.999998	D	0.69078	0.997	D	0.67231	0.95	T	0.00759	-1.1578	10	0.30854	T	0.27	-15.6601	18.6943	0.91594	0.0:0.0:1.0:0.0	.	861	Q9P2D3	HTR5B_HUMAN	V	861	ENSP00000233099:L861V;ENSP00000346531:L861V	ENSP00000233099:L861V	L	-	1	2	HEATR5B	37130415	1.000000	0.71417	0.286000	0.24833	0.631000	0.37964	6.088000	0.71371	2.408000	0.81797	0.585000	0.79938	CTG		PASS	0.438	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		20	71	20	71	---	---	---	---
SRSF7	6432	broad.mit.edu	37	2	38975246	38975246	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:38975246C>G	ENST00000313117.6	-	5	752	c.515G>C	c.(514-516)aGa>aCa	p.R172T	SRSF7_ENST00000409276.1_Missense_Mutation_p.R172T|SRSF7_ENST00000446327.2_Missense_Mutation_p.R172T	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	172	6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R172T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGAAGCTGATCTTGATCTACG	0.363																																						uc002rqz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)AGA>ACA		splicing factor, arginine/serine-rich 7							102.0	97.0	99.0					2																	38975246		2203	4300	6503	SO:0001583	missense	6432				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr2:38975246C>G	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.515G>C	2.37:g.38975246C>G	ENSP00000325905:p.Arg172Thr					SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.R172T	p.R172T	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN			5	753	-		all_hematologic(82;0.248)	172			3.|6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).		B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	c.515G>C	CCDS33183.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.43|14.43	2.532550|2.532550	0.45073|0.45073	.|.	.|.	ENSG00000115875|ENSG00000115875	ENST00000452806|ENST00000313117;ENST00000446327;ENST00000409276	.|T;T;T	.|0.13420	.|2.59;2.59;2.99	5.95|5.95	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.12263|0.12263	0.0298|0.0298	L|L	0.29908|0.29908	0.895|0.895	0.42638|0.42638	D|D	0.993402|0.993402	.|B;B	.|0.25609	.|0.13;0.023	.|B;B	.|0.23574	.|0.047;0.021	T|T	0.05517|0.05517	-1.0880|-1.0880	5|10	.|0.42905	.|T	.|0.14	.|.	15.0148|15.0148	0.71576|0.71576	0.0:0.9323:0.0:0.0677|0.0:0.9323:0.0:0.0677	.|.	.|172;172	.|G5E9M3;Q16629	.|.;SRSF7_HUMAN	N|T	55|172	.|ENSP00000325905:R172T;ENSP00000402264:R172T;ENSP00000386806:R172T	.|ENSP00000325905:R172T	K|R	-|-	3|2	2|0	SRSF7|SRSF7	38828750|38828750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.203000|6.203000	0.72137|0.72137	1.533000|1.533000	0.49186|0.49186	0.655000|0.655000	0.94253|0.94253	AAG|AGA		PASS	0.363	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		21	116	21	116	---	---	---	---
LRPPRC	10128	broad.mit.edu	37	2	44115753	44115753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:44115753C>A	ENST00000260665.7	-	38	4228	c.4171G>T	c.(4171-4173)Gaa>Taa	p.E1391*		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1391	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.E1391*(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAAGAGTTTTCCCTCAATTTT	0.333																																						uc002rtr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4171-4173)GAA>TAA		leucine-rich PPR motif-containing protein							89.0	91.0	91.0					2																	44115753		2203	4300	6503	SO:0001587	stop_gained	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44115753C>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.4171G>T	2.37:g.44115753C>A	ENSP00000260665:p.Glu1391*						p.E1391*	NM_133259	NP_573566	P42704	LPPRC_HUMAN			38	4229	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1391			RNA-binding.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Nonsense_Mutation	SNP	ENST00000260665.7	37	c.4171G>T	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	39	7.744685	0.98465	.	.	ENSG00000138095	ENST00000260665	.	.	.	5.75	4.86	0.63082	.	0.639570	0.15420	N	0.263285	.	.	.	.	.	.	0.19775	N	0.99996	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-7.9132	13.9931	0.64378	0.0:0.8121:0.1879:0.0	.	.	.	.	X	1391	.	ENSP00000260665:E1391X	E	-	1	0	LRPPRC	43969257	0.011000	0.17503	0.040000	0.18447	0.005000	0.04900	1.259000	0.32956	2.716000	0.92895	0.655000	0.94253	GAA		PASS	0.333	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		9	80	9	80	---	---	---	---
LRPPRC	10128	broad.mit.edu	37	2	44139579	44139579	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:44139579C>G	ENST00000260665.7	-	30	3324	c.3267G>C	c.(3265-3267)gtG>gtC	p.V1089V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1089					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.V1089V(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACAATGCTTTCACTTCCATTG	0.308																																						uc002rtr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3265-3267)GTG>GTC		leucine-rich PPR motif-containing protein							125.0	120.0	121.0					2																	44139579		2202	4295	6497	SO:0001819	synonymous_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44139579C>G	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3267G>C	2.37:g.44139579C>G						LRPPRC_uc010yob.1_Silent_p.V989V	p.V1089V	NM_133259	NP_573566	P42704	LPPRC_HUMAN			30	3325	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1089			PPR 16.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	c.3267G>C	CCDS33189.1																																																																																				PASS	0.308	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		25	120	25	120	---	---	---	---
PREPL	9581	broad.mit.edu	37	2	44566303	44566303	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:44566303C>G	ENST00000409936.1	-	7	1389	c.952G>C	c.(952-954)Gaa>Caa	p.E318Q	PREPL_ENST00000409957.1_Missense_Mutation_p.E229Q|PREPL_ENST00000541738.1_Missense_Mutation_p.E229Q|PREPL_ENST00000409272.1_Missense_Mutation_p.E318Q|PREPL_ENST00000409411.1_Missense_Mutation_p.E229Q|PREPL_ENST00000378511.3_Missense_Mutation_p.E318Q|PREPL_ENST00000410081.1_Missense_Mutation_p.E318Q|PREPL_ENST00000378520.3_Missense_Mutation_p.E318Q|PREPL_ENST00000260648.6_Missense_Mutation_p.E318Q	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	318						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.E318Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTGTAGGTTCTCCAACATTA	0.418																																						uc002ruf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(952-954)GAA>CAA		prolyl endopeptidase-like isoform C							91.0	94.0	93.0					2																	44566303		2202	4300	6502	SO:0001583	missense	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44566303C>G	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.952G>C	2.37:g.44566303C>G	ENSP00000386543:p.Glu318Gln					PREPL_uc002rug.2_Missense_Mutation_p.E318Q|PREPL_uc002ruh.2_Missense_Mutation_p.E318Q|PREPL_uc010fax.2_Missense_Mutation_p.E318Q|PREPL_uc002rui.3_Missense_Mutation_p.E229Q|PREPL_uc002ruj.1_Missense_Mutation_p.E229Q|PREPL_uc002ruk.1_Missense_Mutation_p.E318Q	p.E318Q	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN			6	987	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	318					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	c.952G>C	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891763	0.72524	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.46	5.46	0.80206	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.163809	0.53938	D	0.000047	T	0.59998	0.2235	L	0.47716	1.5	0.38489	D	0.94791	D;D;P	0.67145	0.996;0.991;0.558	D;P;B	0.75484	0.986;0.852;0.143	T	0.60924	-0.7166	10	0.48119	T	0.1	-23.1639	19.3054	0.94161	0.0:1.0:0.0:0.0	.	318;318;318	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	Q	229;229;229;318;318;318;318;318;318	ENSP00000439626:E229Q;ENSP00000387095:E229Q;ENSP00000387241:E229Q;ENSP00000386543:E318Q;ENSP00000260648:E318Q;ENSP00000386909:E318Q;ENSP00000386509:E318Q;ENSP00000367781:E318Q;ENSP00000367772:E318Q	ENSP00000260648:E318Q	E	-	1	0	PREPL	44419807	0.996000	0.38824	1.000000	0.80357	0.970000	0.65996	2.809000	0.47971	2.539000	0.85634	0.650000	0.86243	GAA		PASS	0.418	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		22	115	22	115	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55549772	55549772	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:55549772C>G	ENST00000436346.1	-	18	3895	c.3054G>C	c.(3052-3054)caG>caC	p.Q1018H	CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q1017H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q1017H|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q1018H|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1018					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.Q1018H(1)|p.Q1017H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAGGAGAGCTCTGTACCATCC	0.338																																						uc002ryv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(3049-3051)CAG>CAC		coiled-coil domain containing 88A isoform 1							120.0	115.0	117.0					2																	55549772		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549772C>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3054G>C	2.37:g.55549772C>G	ENSP00000410608:p.Gln1018His					CCDC88A_uc010yoz.1_Missense_Mutation_p.Q1018H|CCDC88A_uc010ypa.1_Missense_Mutation_p.Q1017H|CCDC88A_uc002ryu.2_Missense_Mutation_p.Q300H|CCDC88A_uc002rys.2_Missense_Mutation_p.Q3H|CCDC88A_uc002ryw.2_Missense_Mutation_p.Q301H|CCDC88A_uc010fby.1_Intron	p.Q1017H	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			18	3893	-			1018			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.3051G>C		.	.	.	.	.	.	.	.	.	.	C	11.34	1.611174	0.28712	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	T;T;T;T;T;T	0.52057	2.35;2.58;2.57;0.68;2.37;1.32	4.96	4.08	0.47627	.	0.000000	0.45606	U	0.000346	T	0.51534	0.1680	L	0.38838	1.175	0.80722	D	1	B;D;B;B;D	0.65815	0.105;0.995;0.124;0.307;0.989	B;P;B;B;P	0.60236	0.055;0.871;0.055;0.077;0.834	T	0.50701	-0.8797	10	0.51188	T	0.08	-9.1599	9.8021	0.40770	0.0:0.8414:0.0:0.1586	.	1017;1018;1018;1017;1017	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	H	1017;1018;1018;63;1017;193	ENSP00000338728:Q1017H;ENSP00000263630:Q1018H;ENSP00000410608:Q1018H;ENSP00000390012:Q63H;ENSP00000404431:Q1017H;ENSP00000405080:Q193H	ENSP00000263630:Q1018H	Q	-	3	2	CCDC88A	55403276	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	1.178000	0.31981	1.210000	0.43336	0.655000	0.94253	CAG		PASS	0.338	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		72	159	72	159	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56603003	56603003	+	Missense_Mutation	SNP	C	C	G	rs370940744		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:56603003C>G	ENST00000407595.2	+	5	2007	c.1505C>G	c.(1504-1506)tCt>tGt	p.S502C	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	502								p.S502C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACCCAACTCTGCAGCTAGC	0.433																																						uc002rzn.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(1504-1506)TCT>TGT		coiled-coil domain containing 85A		C	CYS/SER	0,3976		0,0,1988	107.0	104.0	105.0		1505	5.2	1.0	2		105	1,8321		0,1,4160	no	missense	CCDC85A	NM_001080433.1	112	0,1,6148	GG,GC,CC		0.012,0.0,0.0081	possibly-damaging	502/554	56603003	1,12297	1988	4161	6149	SO:0001583	missense	114800							g.chr2:56603003C>G	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1505C>G	2.37:g.56603003C>G	ENSP00000384040:p.Ser502Cys						p.S502C	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	2007	+			502						Missense_Mutation	SNP	ENST00000407595.2	37	c.1505C>G	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578301	0.45902	0.0	1.2E-4	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.15	5.15	0.70609	.	0.235286	0.28908	N	0.013747	T	0.24044	0.0582	N	0.08118	0	0.29260	N	0.871375	D	0.54047	0.964	P	0.46975	0.533	T	0.06250	-1.0837	9	0.41790	T	0.15	-30.4698	11.3461	0.49561	0.2296:0.7704:0.0:0.0	.	502	Q96PX6	CC85A_HUMAN	C	502;91	.	ENSP00000384040:S502C	S	+	2	0	CCDC85A	56456507	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.203000	0.51075	2.673000	0.90976	0.467000	0.42956	TCT		PASS	0.433	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			15	88	15	88	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60689006	60689006	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:60689006C>G	ENST00000335712.6	-	4	1268	c.1041G>C	c.(1039-1041)caG>caC	p.Q347H	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.Q347H|BCL11A_ENST00000538214.1_Missense_Mutation_p.Q313H|BCL11A_ENST00000358510.4_Missense_Mutation_p.Q313H|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	347	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.Q347H(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCTACCTGGCTGGAATGGTT	0.632			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		2	Substitution - Missense(2)		lung(2)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1039-1041)CAG>CAC		B-cell CLL/lymphoma 11A isoform 1							60.0	70.0	66.0					2																	60689006		2202	4300	6502	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689006C>G	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1041G>C	2.37:g.60689006C>G	ENSP00000338774:p.Gln347His					BCL11A_uc002sab.2_Missense_Mutation_p.Q347H|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.Q313H|BCL11A_uc002sad.1_Missense_Mutation_p.Q195H|BCL11A_uc002saf.1_Missense_Mutation_p.Q313H	p.Q347H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1269	-			347			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1041G>C	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904338	0.33628	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.09630	2.96;3.25;3.22;3.17	5.74	5.74	0.90152	.	0.064539	0.64402	D	0.000006	T	0.12944	0.0314	L	0.51422	1.61	0.80722	D	1	B;P;B;B	0.41848	0.029;0.763;0.054;0.196	B;B;B;B	0.41088	0.046;0.347;0.049;0.128	T	0.03662	-1.1015	10	0.02654	T	1	-2.8632	19.9231	0.97094	0.0:1.0:0.0:0.0	.	313;313;347;347	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	H	347;383;313;347;313	ENSP00000349300:Q347H;ENSP00000438303:Q313H;ENSP00000338774:Q347H;ENSP00000351307:Q313H	ENSP00000338774:Q347H	Q	-	3	2	BCL11A	60542510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.018000	0.57174	2.717000	0.92951	0.655000	0.94253	CAG		PASS	0.632	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		9	145	9	145	---	---	---	---
PEX13	5194	broad.mit.edu	37	2	61275900	61275900	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:61275900C>G	ENST00000295030.5	+	4	1245	c.1207C>G	c.(1207-1209)Ctt>Gtt	p.L403V		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	403					cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)		p.L403V(1)		endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			AAAGCAAGATCTTTGATATCT	0.333																																						uc002sau.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1207-1209)CTT>GTT		peroxisomal biogenesis factor 13							63.0	63.0	63.0					2																	61275900		2203	4300	6503	SO:0001583	missense	5194				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding	g.chr2:61275900C>G	U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.1207C>G	2.37:g.61275900C>G	ENSP00000295030:p.Leu403Val						p.L403V	NM_002618	NP_002609	Q92968	PEX13_HUMAN	LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)		4	1290	+			403			Cytoplasmic (Potential).		B2RCS1	Missense_Mutation	SNP	ENST00000295030.5	37	c.1207C>G	CCDS1866.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026796	0.75390	.	.	ENSG00000162928	ENST00000295030	T	0.79845	-1.31	5.66	5.66	0.87406	.	0.140038	0.47455	D	0.000235	D	0.85252	0.5654	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	D	0.86203	0.1620	10	0.72032	D	0.01	.	20.1115	0.97913	0.0:1.0:0.0:0.0	.	403	Q92968	PEX13_HUMAN	V	403	ENSP00000295030:L403V	ENSP00000295030:L403V	L	+	1	0	PEX13	61129404	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.021000	0.64072	2.814000	0.96858	0.655000	0.94253	CTT		PASS	0.333	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618		24	130	24	130	---	---	---	---
TMEM17	200728	broad.mit.edu	37	2	62729924	62729924	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:62729924C>T	ENST00000335390.5	-	2	317	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	36					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.E36K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GAGACCATTTCATTTTCTACA	0.353																																						uc002sbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)GAA>AAA		transmembrane protein 17							65.0	68.0	67.0					2																	62729924		2203	4300	6503	SO:0001583	missense	200728					integral to membrane		g.chr2:62729924C>T		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.106G>A	2.37:g.62729924C>T	ENSP00000335094:p.Glu36Lys					TMEM17_uc002sbu.2_Missense_Mutation_p.E36K|TMEM17_uc002sbv.1_Missense_Mutation_p.E11K	p.E36K	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		2	446	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)		36					Q53QP7|Q53R98	Missense_Mutation	SNP	ENST00000335390.5	37	c.106G>A	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730893	0.89390	.	.	ENSG00000186889	ENST00000335390	T	0.48836	0.8	6.07	6.07	0.98685	.	0.198613	0.52532	D	0.000066	T	0.40171	0.1106	L	0.29908	0.895	0.44771	D	0.997778	P	0.35745	0.518	B	0.31390	0.129	T	0.22661	-1.0210	10	0.48119	T	0.1	-6.077	20.6593	0.99626	0.0:1.0:0.0:0.0	.	36	Q86X19	TMM17_HUMAN	K	36	ENSP00000335094:E36K	ENSP00000335094:E36K	E	-	1	0	TMEM17	62583428	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.770000	0.68873	2.885000	0.99019	0.655000	0.94253	GAA		PASS	0.353	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276		25	161	25	161	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63092065	63092065	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:63092065C>G	ENST00000263991.5	+	10	1544	c.1062C>G	c.(1060-1062)ctC>ctG	p.L354L	EHBP1_ENST00000405289.1_Silent_p.L319L|EHBP1_ENST00000354487.3_Silent_p.L319L|EHBP1_ENST00000431489.1_Silent_p.L319L|EHBP1_ENST00000405015.3_Silent_p.L319L	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	354						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.L354L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GCAAGTACCTCTATGCTGATA	0.373																																						uc002sby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1060-1062)CTC>CTG		EH domain binding protein 1 isoform 1							73.0	73.0	73.0					2																	63092065		2203	4300	6503	SO:0001819	synonymous_variant	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63092065C>G	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1062C>G	2.37:g.63092065C>G						EHBP1_uc010fcp.2_Silent_p.L319L|EHBP1_uc002sbx.2_Silent_p.L319L|EHBP1_uc002sbz.2_Silent_p.L319L|EHBP1_uc002scb.2_Silent_p.L319L	p.L354L	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		10	1544	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		354					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	c.1062C>G	CCDS1872.1																																																																																				PASS	0.373	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		27	174	27	174	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63175914	63175914	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:63175914G>T	ENST00000263991.5	+	14	2520	c.2038G>T	c.(2038-2040)Gca>Tca	p.A680S	EHBP1_ENST00000405289.1_Missense_Mutation_p.A645S|EHBP1_ENST00000354487.3_Missense_Mutation_p.A645S|EHBP1_ENST00000431489.1_Missense_Mutation_p.A645S|EHBP1_ENST00000405015.3_Missense_Mutation_p.A645S	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	680						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A680S(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTCAACCCAAGCACAGGTTTT	0.413																																						uc002sby.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2038-2040)GCA>TCA		EH domain binding protein 1 isoform 1							84.0	87.0	86.0					2																	63175914		2203	4300	6503	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63175914G>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2038G>T	2.37:g.63175914G>T	ENSP00000263991:p.Ala680Ser					EHBP1_uc010fcp.2_Missense_Mutation_p.A645S|EHBP1_uc002sbz.2_Missense_Mutation_p.A645S|EHBP1_uc002scb.2_Missense_Mutation_p.A645S	p.A680S	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2520	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		680					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.2038G>T	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617679	0.28801	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.75477	-0.94;-0.94;-0.91;-0.91;-0.91	6.02	2.3	0.28687	.	0.300883	0.32386	N	0.006162	T	0.66934	0.2840	L	0.55481	1.735	0.34885	D	0.744931	B;B;B	0.20988	0.0;0.05;0.0	B;B;B	0.23852	0.009;0.049;0.005	T	0.65315	-0.6198	10	0.23891	T	0.37	.	11.5913	0.50947	0.2181:0.0:0.7819:0.0	.	645;645;680	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	S	645;645;680;645;645	ENSP00000384143:A645S;ENSP00000403783:A645S;ENSP00000263991:A680S;ENSP00000346482:A645S;ENSP00000385524:A645S	ENSP00000263991:A680S	A	+	1	0	EHBP1	63029418	0.946000	0.32159	0.707000	0.30419	0.990000	0.78478	2.449000	0.44935	0.458000	0.26988	-0.142000	0.14014	GCA		PASS	0.413	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		26	96	26	96	---	---	---	---
CEP68	23177	broad.mit.edu	37	2	65299333	65299333	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:65299333C>G	ENST00000377990.2	+	3	1306	c.1103C>G	c.(1102-1104)tCt>tGt	p.S368C	CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.S368C|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.S368C|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	368					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.S368C(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTGCCATTTTCTGGGCCCAGA	0.577																																						uc002sdl.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1102-1104)TCT>TGT		centrosomal protein 68kDa							89.0	94.0	92.0					2																	65299333		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65299333C>G	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.1103C>G	2.37:g.65299333C>G	ENSP00000367229:p.Ser368Cys					CEP68_uc002sdj.2_Missense_Mutation_p.S368C|CEP68_uc010yqb.1_Missense_Mutation_p.S368C|CEP68_uc002sdk.3_Missense_Mutation_p.S368C|CEP68_uc010yqc.1_Missense_Mutation_p.S368C|CEP68_uc010yqd.1_Missense_Mutation_p.S368C	p.S368C	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			3	1317	+			368					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.1103C>G	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913203	0.52439	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.18174	2.24;2.24;2.23	5.66	3.82	0.43975	.	0.401998	0.24233	N	0.040329	T	0.17534	0.0421	L	0.41027	1.25	0.09310	N	1	P;P;B;B;P	0.52316	0.891;0.762;0.051;0.202;0.952	B;B;B;B;P	0.47299	0.359;0.275;0.037;0.097;0.543	T	0.06144	-1.0843	10	0.59425	D	0.04	-4.463	8.4315	0.32761	0.0:0.628:0.2913:0.0807	.	356;368;368;368;368	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	C	368;368;368;356	ENSP00000367229:S368C;ENSP00000438306:S368C;ENSP00000260569:S368C	ENSP00000260569:S368C	S	+	2	0	CEP68	65152837	0.001000	0.12720	0.091000	0.20842	0.836000	0.47400	0.888000	0.28268	1.369000	0.46134	0.491000	0.48974	TCT		PASS	0.577	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		20	129	20	129	---	---	---	---
MTHFD2	10797	broad.mit.edu	37	2	74438937	74438937	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:74438937G>C	ENST00000394053.2	+	7	913	c.833G>C	c.(832-834)aGa>aCa	p.R278T	RP11-287D1.3_ENST00000451608.2_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.R150T|MTHFD2_ENST00000394050.3_Missense_Mutation_p.R114T|MTHFD2_ENST00000409601.1_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.R176T	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	278					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)	p.R278T(1)|p.R176T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	GGAATAAATAGAGTTCACGAT	0.358																																						uc002skk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(832-834)AGA>ACA		methylenetetrahydrofolate dehydrogenase 2	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						81.0	77.0	78.0					2																	74438937		1891	4103	5994	SO:0001583	missense	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74438937G>C	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.833G>C	2.37:g.74438937G>C	ENSP00000377617:p.Arg278Thr					SLC4A5_uc002skl.2_RNA|MTHFD2_uc002skj.2_Missense_Mutation_p.R176T|MTHFD2_uc010yro.1_Missense_Mutation_p.R176T|MTHFD2_uc010ffb.2_Intron|MTHFD2_uc010yrp.1_Missense_Mutation_p.R114T	p.R278T	NM_006636	NP_006627	P13995	MTDC_HUMAN			7	912	+			278					Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	c.833G>C	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697311	0.88830	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000264090;ENST00000394050	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.54	5.54	0.83059	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.91459	3.21	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.85333	0.1091	10	0.87932	D	0	.	17.044	0.86497	0.0:0.0:1.0:0.0	.	278	P13995	MTDC_HUMAN	T	278;150;176;114	ENSP00000377617:R278T;ENSP00000386536:R150T;ENSP00000264090:R176T;ENSP00000377614:R114T	ENSP00000264090:R176T	R	+	2	0	MTHFD2	74292445	1.000000	0.71417	0.992000	0.48379	0.845000	0.48019	7.576000	0.82467	2.593000	0.87608	0.650000	0.86243	AGA		PASS	0.358	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			25	57	25	57	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74598706	74598706	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:74598706G>C	ENST00000361874.3	-	8	920	c.603C>G	c.(601-603)ctC>ctG	p.L201L	DCTN1_ENST00000394003.3_Silent_p.L194L|DCTN1_ENST00000409567.3_Silent_p.L181L|DCTN1_ENST00000409868.1_Silent_p.L184L|DCTN1_ENST00000409240.1_Silent_p.L164L|DCTN1_ENST00000407639.2_Silent_p.L67L|DCTN1_ENST00000409438.1_Silent_p.L67L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	201					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.L201L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CAGGAGAGGTGAGGACCGGCG	0.647																																						uc002skx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(601-603)CTC>CTG		dynactin 1 isoform 1							22.0	23.0	23.0					2																	74598706		2196	4295	6491	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598706G>C		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.603C>G	2.37:g.74598706G>C						DCTN1_uc002skv.2_Silent_p.L67L|DCTN1_uc002sku.2_Silent_p.L67L|DCTN1_uc002skw.1_Silent_p.L177L|DCTN1_uc010ffd.2_Silent_p.L181L|DCTN1_uc002sky.2_Silent_p.L164L	p.L201L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			8	914	-			201					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.603C>G	CCDS1939.1																																																																																				PASS	0.647	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		3	12	3	12	---	---	---	---
HTRA2	27429	broad.mit.edu	37	2	74758161	74758161	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:74758161C>G	ENST00000258080.3	+	3	1465	c.835C>G	c.(835-837)Cag>Gag	p.Q279E	HTRA2_ENST00000352222.3_Intron|HTRA2_ENST00000467961.1_3'UTR|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	279	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)	p.Q279E(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TAGCTCTGCTCAGCGTCCAGC	0.517																																						uc002smi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(835-837)CAG>GAG		HtrA serine peptidase 2 isoform 1 preproprotein							141.0	146.0	144.0					2																	74758161		2203	4300	6503	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74758161C>G		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.835C>G	2.37:g.74758161C>G	ENSP00000258080:p.Gln279Glu					AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Missense_Mutation_p.Q279E|HTRA2_uc002sml.1_Missense_Mutation_p.Q279E|HTRA2_uc002smm.1_Missense_Mutation_p.Q20E|HTRA2_uc002smn.1_Missense_Mutation_p.Q20E|HTRA2_uc010ffl.2_Missense_Mutation_p.Q20E	p.Q279E	NM_013247	NP_037379	O43464	HTRA2_HUMAN			3	1437	+			279			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.835C>G	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364223	0.82463	.	.	ENSG00000115317	ENST00000258080;ENST00000437202	D;D	0.87571	-2.27;-2.27	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	N	0.04686	-0.185	0.80722	D	1	P;D;D;D	0.69078	0.498;0.987;0.996;0.997	B;D;D;D	0.81914	0.147;0.925;0.991;0.995	D	0.86693	0.1924	10	0.37606	T	0.19	-14.675	15.7009	0.77541	0.0:1.0:0.0:0.0	.	279;279;279;279	O43464-4;A8K7G2;O43464-3;O43464	.;.;.;HTRA2_HUMAN	E	279;266	ENSP00000258080:Q279E;ENSP00000399166:Q266E	ENSP00000258080:Q279E	Q	+	1	0	HTRA2	74611669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.633000	0.83260	2.584000	0.87258	0.462000	0.41574	CAG		PASS	0.517	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		57	350	57	350	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80801373	80801373	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:80801373C>T	ENST00000402739.4	+	12	1832	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	CTNNA2_ENST00000361291.4_Silent_p.F643F|CTNNA2_ENST00000541047.1_Silent_p.F609F|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000466387.1_Silent_p.F609F|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Silent_p.F609F|CTNNA2_ENST00000343114.3_Silent_p.F288F|CTNNA2_ENST00000496558.1_Silent_p.F609F	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	609					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.F609F(1)|p.I610I(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGAATGAGTTCATCGATGCCT	0.512																																						uc010ysh.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1825-1827)TTC>TTT		catenin, alpha 2 isoform 1							182.0	174.0	177.0					2																	80801373		2142	4274	6416	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80801373C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1827C>T	2.37:g.80801373C>T						CTNNA2_uc010yse.1_Silent_p.F609F|CTNNA2_uc010ysf.1_Silent_p.F609F|CTNNA2_uc010ysg.1_Silent_p.F609F|CTNNA2_uc010ysi.1_Silent_p.F241F	p.F609F	NM_004389	NP_004380	P26232	CTNA2_HUMAN			12	1832	+			609					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1827C>T																																																																																					PASS	0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		30	187	30	187	---	---	---	---
ST3GAL5	8869	broad.mit.edu	37	2	86090577	86090577	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:86090577C>T	ENST00000377332.3	-	2	222	c.114G>A	c.(112-114)ctG>ctA	p.L38L	ST3GAL5_ENST00000393805.1_Silent_p.L10L|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000393808.3_Silent_p.L15L|ST3GAL5_ENST00000525834.2_Silent_p.L38L	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	38					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)	p.L38L(1)|p.L15L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						AATCACTTCTCAGTTTCACAT	0.473																																						uc002sqq.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(112-114)CTG>CTA		ST3 beta-galactoside alpha-2,3-sialyltransferase							108.0	101.0	103.0					2																	86090577		2203	4300	6503	SO:0001819	synonymous_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86090577C>T	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.114G>A	2.37:g.86090577C>T						ST3GAL5_uc010ysy.1_Silent_p.L38L|ST3GAL5_uc010ysz.1_Silent_p.L38L|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Silent_p.L15L	p.L38L	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN			2	243	-			38			Cytoplasmic (Potential).		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Silent	SNP	ENST00000377332.3	37	c.114G>A	CCDS1986.2																																																																																				PASS	0.473	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		29	119	29	119	---	---	---	---
CNNM3	26505	broad.mit.edu	37	2	97492602	97492602	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:97492602C>G	ENST00000305510.3	+	3	1430	c.1402C>G	c.(1402-1404)Ctg>Gtg	p.L468V	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.L420V	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	468					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.L468V(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GCCTGCTTCTCTGATGGCCCC	0.537																																						uc002swy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1402-1404)CTG>GTG		cyclin M3 isoform 1							153.0	141.0	145.0					2																	97492602		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97492602C>G	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1402C>G	2.37:g.97492602C>G	ENSP00000305449:p.Leu468Val					CNNM3_uc002swz.2_Missense_Mutation_p.L420V	p.L468V	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN			3	1426	+			468					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1402C>G	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	C	4.413	0.076314	0.08485	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90444	-2.41;-2.67	5.76	2.99	0.34606	.	0.090154	0.45867	D	0.000321	T	0.78342	0.4268	N	0.11064	0.09	0.18873	N	0.999983	P;P	0.49559	0.907;0.925	P;B	0.45712	0.491;0.395	T	0.69476	-0.5135	10	0.15499	T	0.54	-17.0504	3.574	0.07927	0.1381:0.5818:0.1336:0.1465	.	420;468	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	V	420;420;468	ENSP00000366260:L420V;ENSP00000305449:L468V	ENSP00000305449:L468V	L	+	1	2	CNNM3	96856329	0.290000	0.24343	0.000000	0.03702	0.065000	0.16274	0.709000	0.25734	0.360000	0.24265	-0.176000	0.13171	CTG		PASS	0.537	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		52	305	52	305	---	---	---	---
CNNM3	26505	broad.mit.edu	37	2	97492629	97492629	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:97492629G>A	ENST00000305510.3	+	3	1457	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.E429K	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	477					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.E477K(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GCGGAAGGAGGAGTTCTCCTT	0.562																																						uc002swy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1429-1431)GAG>AAG		cyclin M3 isoform 1							136.0	123.0	127.0					2																	97492629		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97492629G>A	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1429G>A	2.37:g.97492629G>A	ENSP00000305449:p.Glu477Lys					CNNM3_uc002swz.2_Missense_Mutation_p.E429K	p.E477K	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN			3	1453	+			477					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1429G>A	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	G	36	5.916710	0.97099	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90676	-2.48;-2.71	5.76	5.76	0.90799	.	0.121111	0.53938	D	0.000054	D	0.92506	0.7620	L	0.47716	1.5	0.80722	D	1	P;D	0.55800	0.833;0.973	P;P	0.58454	0.839;0.827	D	0.90670	0.4597	10	0.31617	T	0.26	-5.51	18.742	0.91777	0.0:0.0:1.0:0.0	.	429;477	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	K	429;429;477	ENSP00000366260:E429K;ENSP00000305449:E477K	ENSP00000305449:E477K	E	+	1	0	CNNM3	96856356	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.895000	0.92512	2.728000	0.93425	0.655000	0.94253	GAG		PASS	0.562	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		34	273	34	273	---	---	---	---
CNGA3	1261	broad.mit.edu	37	2	99012792	99012792	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:99012792G>A	ENST00000272602.2	+	7	1198	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	CNGA3_ENST00000436404.2_Missense_Mutation_p.V369M|CNGA3_ENST00000409937.1_Missense_Mutation_p.V391M|CNGA3_ENST00000393504.1_Missense_Mutation_p.V387M			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	387					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|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)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.V387M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGACTTCTTGGTGGGTGTTCT	0.502																																						uc002syt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1159-1161)GTG>ATG		cyclic nucleotide gated channel alpha 3 isoform							79.0	81.0	80.0					2																	99012792		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012792G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1159G>A	2.37:g.99012792G>A	ENSP00000272602:p.Val387Met					CNGA3_uc002syu.2_Missense_Mutation_p.V369M|CNGA3_uc010fij.2_Missense_Mutation_p.V391M	p.V387M	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	1576	+			387			Helical; (Potential).		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1159G>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713630	0.48517	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	5.05	5.05	0.67936	Ion transport (1);	0.156225	0.50627	D	0.000113	D	0.98137	0.9385	L	0.61218	1.895	0.35506	D	0.800209	P;P;P	0.48764	0.907;0.915;0.585	P;P;P	0.62491	0.873;0.903;0.451	D	0.99833	1.1055	10	0.36615	T	0.2	.	10.8518	0.46775	0.0871:0.0:0.9129:0.0	.	391;369;387	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	M	387;369;387;391	ENSP00000377140:V387M;ENSP00000410070:V369M;ENSP00000272602:V387M;ENSP00000386761:V391M	ENSP00000272602:V387M	V	+	1	0	CNGA3	98379224	0.133000	0.22466	1.000000	0.80357	0.975000	0.68041	0.913000	0.28611	2.620000	0.88729	0.563000	0.77884	GTG		PASS	0.502	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		75	107	75	107	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100168001	100168001	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:100168001C>G	ENST00000409236.2	-	23	3728	c.3616G>C	c.(3616-3618)Gag>Cag	p.E1206Q	AFF3_ENST00000356421.2_Missense_Mutation_p.E1231Q|AFF3_ENST00000409579.1_Missense_Mutation_p.E1231Q|AFF3_ENST00000317233.4_Missense_Mutation_p.E1206Q			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1206					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E1231Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACCAGGTGCTCCATGCTGCTG	0.592																																						uc002tag.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(3616-3618)GAG>CAG		AF4/FMR2 family, member 3 isoform 1							63.0	59.0	60.0					2																	100168001		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100168001C>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3616G>C	2.37:g.100168001C>G	ENSP00000387207:p.Glu1206Gln					AFF3_uc002taf.2_Missense_Mutation_p.E1231Q	p.E1206Q	NM_002285	NP_002276	P51826	AFF3_HUMAN			24	3852	-			1206					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3616G>C	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307518	0.81247	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	6.17	5.29	0.74685	.	0.138212	0.49305	D	0.000145	T	0.65790	0.2725	L	0.56769	1.78	0.35676	D	0.81373	B;P	0.47910	0.273;0.902	P;B	0.48063	0.565;0.421	T	0.72127	-0.4384	10	0.40728	T	0.16	.	15.9972	0.80260	0.0:0.935:0.0:0.065	.	1206;1231	P51826;P51826-2	AFF3_HUMAN;.	Q	1206;1231;1231;1206	ENSP00000317421:E1206Q;ENSP00000348793:E1231Q;ENSP00000386834:E1231Q;ENSP00000387207:E1206Q	ENSP00000317421:E1206Q	E	-	1	0	AFF3	99534433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.666000	0.37460	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.592	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		4	62	4	62	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109384287	109384287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:109384287C>A	ENST00000283195.6	+	20	7418	c.7292C>A	c.(7291-7293)tCg>tAg	p.S2431*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2431	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S2431*(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTTGCAGACTCGTTTAAGAAA	0.393																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Nonsense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(7291-7293)TCG>TAG		RAN binding protein 2							54.0	61.0	59.0					2																	109384287		1389	2858	4247	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109384287C>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7292C>A	2.37:g.109384287C>A	ENSP00000283195:p.Ser2431*						p.S2431*	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	7418	+			2431			RanBD1 3.		Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.7292C>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	47	13.159282	0.99724	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.47	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-10.2208	10.8218	0.46610	0.0:0.8546:0.0:0.1454	.	.	.	.	X	1455;2431	.	ENSP00000283195:S2431X	S	+	2	0	RANBP2	108750719	0.046000	0.20272	1.000000	0.80357	0.880000	0.50808	2.075000	0.41538	1.449000	0.47699	0.305000	0.20034	TCG		PASS	0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		21	454	21	454	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112615953	112615953	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:112615953C>G	ENST00000341068.3	-	11	2060	c.1288G>C	c.(1288-1290)Gtg>Ctg	p.V430L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	430					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.V430L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTAATAAACACTTTTGAGGCT	0.368																																						uc002thi.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1288-1290)GTG>CTG		anaphase promoting complex subunit 1							75.0	72.0	73.0					2																	112615953		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112615953C>G	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1288G>C	2.37:g.112615953C>G	ENSP00000339109:p.Val430Leu						p.V430L	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			11	1535	-			430					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1288G>C	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485244	0.63962	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.99	4.99	0.66335	.	0.684606	0.10672	N	0.647448	T	0.71525	0.3350	M	0.75777	2.31	0.53688	D	0.999976	B	0.11235	0.004	B	0.12156	0.007	T	0.67070	-0.5763	9	0.62326	D	0.03	-6.7566	18.6307	0.91359	0.0:1.0:0.0:0.0	.	430	Q9H1A4	APC1_HUMAN	L	430	.	ENSP00000339109:V430L	V	-	1	0	ANAPC1	112332424	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.372000	0.73123	2.462000	0.83206	0.561000	0.74099	GTG		PASS	0.368	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		6	116	6	116	---	---	---	---
PAX8	7849	broad.mit.edu	37	2	113999695	113999695	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:113999695G>T	ENST00000429538.3	-	6	685	c.491C>A	c.(490-492)gCt>gAt	p.A164D	PAX8_ENST00000263335.7_Missense_Mutation_p.A164D|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.A164D|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000456685.1_RNA|RP11-65I12.1_ENST00000553319.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.A164D|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.A164D|AC016683.6_ENST00000553869.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	164					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)	p.A164D(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GGGAGTTACAGCTGAGCTGGG	0.627			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	uc010yxt.1				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis 	E	PPARG		follicular thyroid		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(490-492)GCT>GAT		paired box 8 isoform PAX8A							20.0	22.0	21.0					2																	113999695		1952	4145	6097	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:113999695G>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.491C>A	2.37:g.113999695G>T	ENSP00000395498:p.Ala164Asp					PAX8_uc010yxu.1_Missense_Mutation_p.A164D|PAX8_uc010yxv.1_Missense_Mutation_p.A164D|PAX8_uc002tjm.2_Missense_Mutation_p.A164D|PAX8_uc002tjn.2_Missense_Mutation_p.A164D|PAX8_uc010fku.1_Missense_Mutation_p.A164D|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	p.A164D	NM_003466	NP_003457	Q06710	PAX8_HUMAN			6	657	-			164					Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.491C>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.237483	0.79800	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.98044	-4.68;-4.67;-4.47;-4.05;-4.47	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	M	0.67700	2.07	0.80722	D	1	D;D;P;B;B	0.69078	0.994;0.997;0.952;0.354;0.019	D;D;P;B;B	0.67548	0.952;0.926;0.521;0.355;0.004	D	0.98860	1.0762	10	0.59425	D	0.04	.	16.4726	0.84115	0.0:0.0:1.0:0.0	.	164;164;164;164;164	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	D	164	ENSP00000263335:A164D;ENSP00000380768:A164D;ENSP00000314750:A164D;ENSP00000395498:A164D;ENSP00000263334:A164D	ENSP00000263334:A164D	A	-	2	0	PAX8	113716165	1.000000	0.71417	0.442000	0.26870	0.714000	0.41099	5.753000	0.68736	2.550000	0.86006	0.552000	0.68991	GCT		PASS	0.627	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			6	45	6	45	---	---	---	---
MIR1302-3	100302128	broad.mit.edu	37	2	114340561	114340561	+	RNA	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:114340561A>T	ENST00000408128.1	-	0	112					NR_031632.1				microRNA 1302-3																		tgaatctcagataaacaacca	0.353																																						hsa-mir-1302-3|MI0006364																			0					0															49.0	48.0	49.0					2																	114340561		1566	3577	5143			100302128							g.chr2:114340561A>T			2q13	2011-09-12		2008-12-18	ENSG00000221055	ENSG00000221055		"""ncRNAs / Micro RNAs"""	35295	non-coding RNA	RNA, micro				MIRN1302-3			Standard	NR_031632		Approved	hsa-mir-1302-3					2.37:g.114340561A>T						WASH2P_uc002tka.2_5'Flank|WASH2P_uc002tkb.2_5'Flank										-									RNA	SNP	ENST00000408128.1	37	c.113A>T																																																																																					PASS	0.353	MIR1302-3-201	KNOWN	basic	miRNA	miRNA		NR_031632		9	131	9	131	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116520161	116520161	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:116520161C>A	ENST00000410059.1	+	12	1568	c.1088C>A	c.(1087-1089)aCa>aAa	p.T363K	DPP10_ENST00000310323.8_Missense_Mutation_p.T356K|DPP10_ENST00000393147.2_Missense_Mutation_p.T367K|DPP10_ENST00000409163.1_Missense_Mutation_p.T313K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	363						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.T356K(1)|p.T363K(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TATGAGATGACATCAGATACG	0.358																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1087-1089)ACA>AAA		dipeptidyl peptidase 10 isoform long							197.0	186.0	190.0					2																	116520161		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116520161C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1088C>A	2.37:g.116520161C>A	ENSP00000386565:p.Thr363Lys					DPP10_uc002tlb.1_Missense_Mutation_p.T313K|DPP10_uc002tlc.1_Missense_Mutation_p.T359K|DPP10_uc002tle.2_Missense_Mutation_p.T367K|DPP10_uc002tlf.1_Missense_Mutation_p.T356K	p.T363K	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			12	1545	+			363			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1088C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375359	0.24857	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.99	4.99	0.66335	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.499086	0.21341	N	0.076137	T	0.23727	0.0574	N	0.17474	0.49	0.31813	N	0.626935	B;B;B;B	0.30973	0.125;0.101;0.302;0.152	B;B;B;B	0.36766	0.149;0.096;0.232;0.232	T	0.26326	-1.0106	10	0.51188	T	0.08	-1.6217	13.0304	0.58839	0.1717:0.8283:0.0:0.0	.	356;367;359;363	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	K	363;313;367;356;313	ENSP00000386565:T363K;ENSP00000387038:T313K;ENSP00000376855:T367K;ENSP00000309066:T356K	ENSP00000309066:T356K	T	+	2	0	DPP10	116236631	0.962000	0.33011	1.000000	0.80357	0.959000	0.62525	1.495000	0.35627	2.604000	0.88044	0.555000	0.69702	ACA		PASS	0.358	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		26	241	26	241	---	---	---	---
PTPN4	5775	broad.mit.edu	37	2	120643436	120643436	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:120643436G>C	ENST00000263708.2	+	9	1424	c.653G>C	c.(652-654)gGa>gCa	p.G218A		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	218	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.G218A(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GAACTCTATGGAGTTGAATTC	0.333																																						uc002tmf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(652-654)GGA>GCA		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						110.0	117.0	115.0					2																	120643436		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120643436G>C		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.653G>C	2.37:g.120643436G>C	ENSP00000263708:p.Gly218Ala					PTPN4_uc010flj.1_5'UTR	p.G218A	NM_002830	NP_002821	P29074	PTN4_HUMAN			9	1424	+			218			FERM.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.653G>C	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876890	0.91664	.	.	ENSG00000088179	ENST00000263708	D	0.96265	-3.96	5.41	5.41	0.78517	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98585	0.9527	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99360	1.0917	10	0.87932	D	0	.	19.5448	0.95287	0.0:0.0:1.0:0.0	.	218	P29074	PTN4_HUMAN	A	218	ENSP00000263708:G218A	ENSP00000263708:G218A	G	+	2	0	PTPN4	120359906	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.664000	0.91139	2.700000	0.92200	0.655000	0.94253	GGA		PASS	0.333	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			7	289	7	289	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125175063	125175063	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:125175063A>C	ENST00000431078.1	+	4	789	c.425A>C	c.(424-426)aAg>aCg	p.K142T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	142	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.K142T(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)		GTGCACCACAAGCTATTGCAC	0.507																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(424-426)AAG>ACG		contactin associated protein-like 5 precursor							96.0	97.0	96.0					2																	125175063		2008	4182	6190	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175063A>C	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.425A>C	2.37:g.125175063A>C	ENSP00000399013:p.Lys142Thr					CNTNAP5_uc010flu.2_Missense_Mutation_p.K142T	p.K142T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	789	+			142			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.425A>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006211	0.74932	.	.	ENSG00000155052	ENST00000431078	D	0.98012	-4.66	6.06	0.968	0.19680	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.118237	0.36444	N	0.002587	D	0.96620	0.8897	L	0.38531	1.155	0.44745	D	0.997743	D	0.60575	0.988	P	0.60473	0.875	D	0.94185	0.7435	10	0.49607	T	0.09	.	9.5476	0.39291	0.7304:0.0:0.2696:0.0	.	142	Q8WYK1	CNTP5_HUMAN	T	142	ENSP00000399013:K142T	ENSP00000399013:K142T	K	+	2	0	CNTNAP5	124891533	1.000000	0.71417	0.813000	0.32504	0.882000	0.50991	4.814000	0.62627	-0.055000	0.13244	0.533000	0.62120	AAG		PASS	0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			11	42	11	42	---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128262761	128262761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:128262761C>A	ENST00000295321.4	-	3	977	c.718G>T	c.(718-720)Gag>Tag	p.E240*	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Nonsense_Mutation_p.E247*	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	240	3 X approximate tandem repeats.|Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E240*(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GGAAGCTCCTCATTTTCAGAG	0.507																																						uc002ton.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(718-720)GAG>TAG		IWS1 homolog							132.0	142.0	139.0					2																	128262761		2203	4300	6503	SO:0001587	stop_gained	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262761C>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.718G>T	2.37:g.128262761C>A	ENSP00000295321:p.Glu240*					IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_RNA	p.E240*	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1021	-	Colorectal(110;0.1)		240			Glu-rich.|1.|3 X approximate tandem repeats.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Nonsense_Mutation	SNP	ENST00000295321.4	37	c.718G>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204108	0.79127	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	.	.	.	5.88	5.88	0.94601	.	0.243327	0.39274	N	0.001420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-16.4198	20.2441	0.98394	0.0:1.0:0.0:0.0	.	.	.	.	X	240;193;247;245	.	ENSP00000295321:E240X	E	-	1	0	IWS1	127979231	1.000000	0.71417	0.956000	0.39512	0.044000	0.14063	2.948000	0.49066	2.774000	0.95407	0.655000	0.94253	GAG		PASS	0.507	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		12	559	12	559	---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139316676	139316676	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:139316676G>A	ENST00000280098.4	+	6	944	c.565G>A	c.(565-567)Gat>Aat	p.D189N		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	189					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.D189N(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TCTAGCAGAAGATTTAGGTAA	0.378																																						uc002tvh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(565-567)GAT>AAT		speckle-type POZ protein-like							104.0	113.0	110.0					2																	139316676		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139316676G>A		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.565G>A	2.37:g.139316676G>A	ENSP00000280098:p.Asp189Asn						p.D189N	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	6	965	+			189						Missense_Mutation	SNP	ENST00000280098.4	37	c.565G>A	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592711	0.66219	.	.	ENSG00000144228	ENST00000280098	T	0.70986	-0.53	5.13	5.13	0.70059	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.70159	0.3192	M	0.70842	2.15	0.80722	D	1	P	0.35174	0.488	B	0.32022	0.139	T	0.70417	-0.4877	9	.	.	.	-17.8663	18.9517	0.92643	0.0:0.0:1.0:0.0	.	189	Q6IQ16	SPOPL_HUMAN	N	189	ENSP00000280098:D189N	.	D	+	1	0	SPOPL	139033146	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	9.813000	0.99286	2.540000	0.85666	0.491000	0.48974	GAT		PASS	0.378	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			66	168	66	168	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141055416	141055416	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:141055416G>A	ENST00000389484.3	-	84	13899	c.12928C>T	c.(12928-12930)Cac>Tac	p.H4310Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4310	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.H4310Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTGGCAGTGGCAGTAAGGC	0.468										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12928-12930)CAC>TAC		low density lipoprotein-related protein 1B							163.0	168.0	166.0					2																	141055416		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141055416G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12928C>T	2.37:g.141055416G>A	ENSP00000374135:p.His4310Tyr	TSP Lung(27;0.18)					p.H4310Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	84	13900	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4310			Extracellular (Potential).|EGF-like 12.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12928C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734172	0.48939	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89875	-2.58	6.08	3.28	0.37604	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.291277	0.33496	N	0.004851	T	0.79805	0.4509	N	0.25890	0.77	0.24795	N	0.992732	B	0.02656	0.0	B	0.01281	0.0	T	0.69098	-0.5235	10	0.62326	D	0.03	.	6.2398	0.20785	0.0604:0.213:0.5066:0.22	.	4310	Q9NZR2	LRP1B_HUMAN	Y	4310;4248	ENSP00000374135:H4310Y	ENSP00000374135:H4310Y	H	-	1	0	LRP1B	140771886	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	2.662000	0.46766	0.433000	0.26313	0.655000	0.94253	CAC		PASS	0.468	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		193	307	193	307	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141665461	141665461	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:141665461C>T	ENST00000389484.3	-	22	4476	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1169	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E1169K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGATAGCCTTCATCAGAGCCA	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3505-3507)GAA>AAA		low density lipoprotein-related protein 1B							186.0	190.0	189.0					2																	141665461		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665461C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3505G>A	2.37:g.141665461C>T	ENSP00000374135:p.Glu1169Lys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.E351K	p.E1169K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4477	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1169			Extracellular (Potential).|LDL-receptor class A 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3505G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	36	5.729852	0.96856	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99607	-6.27;-5.18	5.58	5.58	0.84498	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.99074	4.42	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.75020	0.969;0.985	D	0.96557	0.9412	10	0.87932	D	0	.	19.5654	0.95390	0.0:1.0:0.0:0.0	.	352;1169	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	K	1169;1107;314	ENSP00000374135:E1169K;ENSP00000413239:E314K	ENSP00000374135:E1169K	E	-	1	0	LRP1B	141381931	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.729000	0.84864	2.641000	0.89580	0.585000	0.79938	GAA		PASS	0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		47	374	47	374	---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148653896	148653896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:148653896C>T	ENST00000241416.7	+	2	718	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.Q28*|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	28					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.Q28*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ATCAGAAACTCAGGAGTGTCT	0.338																																						uc002twg.2																			1	Substitution - Nonsense(1)		lung(1)	stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13						c.(82-84)CAG>TAG		activin A receptor, type IIA precursor							104.0	108.0	107.0					2																	148653896		2203	4300	6503	SO:0001587	stop_gained	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148653896C>T		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.82C>T	2.37:g.148653896C>T	ENSP00000241416:p.Gln28*					ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Nonsense_Mutation_p.Q28*	p.Q28*	NM_001616	NP_001607	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	3	351	+			28			Extracellular (Potential).		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Nonsense_Mutation	SNP	ENST00000241416.7	37	c.82C>T	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	39	7.791540	0.98492	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	.	.	.	5.39	5.39	0.77823	.	0.054863	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	14.0501	0.64730	0.1508:0.8492:0.0:0.0	.	.	.	.	X	28	.	ENSP00000241416:Q28X	Q	+	1	0	ACVR2A	148370366	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.677000	0.61634	2.516000	0.84829	0.655000	0.94253	CAG		PASS	0.338	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		31	214	31	214	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152314350	152314350	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:152314350G>C	ENST00000243326.5	+	23	3211	c.2728G>C	c.(2728-2730)Gaa>Caa	p.E910Q	RIF1_ENST00000444746.2_Missense_Mutation_p.E910Q|RIF1_ENST00000428287.2_Missense_Mutation_p.E910Q|RIF1_ENST00000453091.2_Missense_Mutation_p.E910Q|RIF1_ENST00000430328.2_Missense_Mutation_p.E910Q			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.E910Q(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGAACTTCTTGAACAACTCTC	0.368																																						uc002txm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(2728-2730)GAA>CAA		RAP1 interacting factor 1							91.0	89.0	90.0					2																	152314350		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152314350G>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2728G>C	2.37:g.152314350G>C	ENSP00000243326:p.Glu910Gln					RIF1_uc002txl.2_Missense_Mutation_p.E910Q|RIF1_uc002txn.2_Missense_Mutation_p.E910Q|RIF1_uc002txo.2_Missense_Mutation_p.E910Q	p.E910Q	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	24	2858	+			910					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2728G>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763935	0.69878	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	6.03	5.12	0.69794	.	0.267037	0.42420	D	0.000706	T	0.46092	0.1375	N	0.17082	0.46	0.80722	D	1	B;B	0.29671	0.048;0.254	B;B	0.26310	0.03;0.068	T	0.37641	-0.9697	10	0.27785	T	0.31	-13.1604	16.1461	0.81569	0.0:0.2445:0.7555:0.0	.	910;910	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	Q	910	ENSP00000390181:E910Q;ENSP00000414615:E910Q;ENSP00000415691:E910Q;ENSP00000243326:E910Q;ENSP00000416123:E910Q	ENSP00000243326:E910Q	E	+	1	0	RIF1	152022596	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.646000	0.46630	2.861000	0.98227	0.655000	0.94253	GAA		PASS	0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			4	184	4	184	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152496966	152496966	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:152496966C>G	ENST00000172853.10	-	61	8735	c.8588G>C	c.(8587-8589)aGc>aCc	p.S2863T	NEB_ENST00000427231.2_Missense_Mutation_p.S2863T|NEB_ENST00000397345.3_Missense_Mutation_p.S2863T|NEB_ENST00000603639.1_Missense_Mutation_p.S2863T|NEB_ENST00000409198.1_Missense_Mutation_p.S2863T|NEB_ENST00000604864.1_Missense_Mutation_p.S2863T			P20929	NEBU_HUMAN	nebulin	2863					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S2863T(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCCACATCGCTGACTAAGGT	0.567																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(8587-8589)AGC>ACC		nebulin isoform 3							267.0	271.0	270.0					2																	152496966		2122	4229	6351	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152496966C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8588G>C	2.37:g.152496966C>G	ENSP00000172853:p.Ser2863Thr					NEB_uc002txu.2_5'Flank	p.S2863T	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	61	8779	-			2863			Nebulin 77.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8588G>C		.	.	.	.	.	.	.	.	.	.	C	23.9	4.465688	0.84425	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	6.07	6.07	0.98685	.	0.099088	0.64402	D	0.000002	T	0.69922	0.3165	M	0.69823	2.125	0.80722	D	1	D	0.56746	0.977	D	0.74348	0.983	T	0.65294	-0.6203	10	0.41790	T	0.15	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	2863	P20929	NEBU_HUMAN	T	2863	ENSP00000386259:S2863T;ENSP00000380505:S2863T;ENSP00000416578:S2863T;ENSP00000172853:S2863T	ENSP00000172853:S2863T	S	-	2	0	NEB	152205212	0.993000	0.37304	0.987000	0.45799	0.927000	0.56198	2.590000	0.46154	2.885000	0.99019	0.655000	0.94253	AGC		PASS	0.567	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		75	460	75	460	---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153537844	153537844	+	Missense_Mutation	SNP	T	T	C	rs548321568		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:153537844T>C	ENST00000410080.1	-	6	893	c.352A>G	c.(352-354)Atg>Gtg	p.M118V		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	145					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.M14V(1)|p.M118V(1)|p.M145V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCAGTCCACATTGATTTCTAA	0.323													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17561	0.0		0.0	False		,,,				2504	0.0					uc002tyi.2																			3	Substitution - Missense(3)		lung(3)		0						c.(433-435)ATG>GTG		formin binding protein 3							165.0	156.0	159.0					2																	153537844		1829	4082	5911	SO:0001583	missense	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153537844T>C	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.352A>G	2.37:g.153537844T>C	ENSP00000386458:p.Met118Val					PRPF40A_uc002tyh.3_Missense_Mutation_p.M118V|PRPF40A_uc010zcd.1_Intron|PRPF40A_uc002tyj.2_Missense_Mutation_p.M14V|PRPF40A_uc002tyl.1_Missense_Mutation_p.M145V	p.M145V	NM_017892	NP_060362	O75400	PR40A_HUMAN			6	446	-			145			WW 1.		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	c.433A>G	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	T	9.454	1.091389	0.20471	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000545856;ENST00000493468	T	0.27256	1.68	5.52	5.52	0.82312	.	0.281502	0.45867	D	0.000337	T	0.08492	0.0211	N	0.00707	-1.245	0.24110	N	0.995844	B;B	0.28971	0.229;0.001	B;B	0.30029	0.11;0.002	T	0.25779	-1.0122	10	0.24483	T	0.36	-11.2837	11.6016	0.51006	0.0:0.0:0.1488:0.8512	.	145;118	O75400-3;E9PFS0	.;.	V	118;145;14;145;138	ENSP00000386458:M118V	ENSP00000348770:M145V	M	-	1	0	PRPF40A	153246090	0.976000	0.34144	1.000000	0.80357	0.963000	0.63663	1.295000	0.33377	2.093000	0.63338	0.482000	0.46254	ATG		PASS	0.323	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		53	312	53	312	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155102386	155102387	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:155102386_155102387GG>TT	ENST00000392825.3	+	7	1315_1316	c.748_749GG>TT	c.(748-750)GGg>TTg	p.G250L	GALNT13_ENST00000409237.1_Missense_Mutation_p.G250L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	250					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G250L(1)|p.G250W(1)|p.G250V(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATATATGGCTGGGTCAGACATG	0.391																																						uc002tyr.3																			3	Substitution - Missense(3)		lung(3)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(748-750)GGG>TGG|c.(748-750)GGG>GTG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide																																				SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102386G>T|g.chr2:155102387G>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	Exception_encountered	2.37:g.155102386_155102387delinsTT	ENSP00000376570:p.Gly250Leu					GALNT13_uc002tyt.3_Missense_Mutation_p.G250W|GALNT13_uc010foc.1_Missense_Mutation_p.G69W|GALNT13_uc010fod.2_Missense_Mutation_p.G3W|GALNT13_uc002tyt.3_Missense_Mutation_p.G250V|GALNT13_uc010foc.1_Missense_Mutation_p.G69V|GALNT13_uc010fod.2_Missense_Mutation_p.G3V	p.G250W|p.G250V	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			7	1315|1316	+			250			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.748G>T|c.749G>T	CCDS2199.1																																																																																				PASS	0.391	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		23|21	202|200	21	200	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155566136	155566136	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:155566136G>A	ENST00000295101.2	+	2	1201	c.724G>A	c.(724-726)Gag>Aag	p.E242K	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	242					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.E242K(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ACCTGAGGGTGAGTTCCTTCC	0.453																																						uc002tyv.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(724-726)GAG>AAG		potassium inwardly-rectifying channel J3	Halothane(DB01159)						113.0	109.0	110.0					2																	155566136		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155566136G>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.724G>A	2.37:g.155566136G>A	ENSP00000295101:p.Glu242Lys					KCNJ3_uc010zce.1_Intron	p.E242K	NM_002239	NP_002230	P48549	IRK3_HUMAN			2	919	+			242			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.724G>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213463	0.95069	.	.	ENSG00000162989	ENST00000295101	D	0.96427	-4.01	5.96	5.96	0.96718	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	0.98804	0.9597	H	0.95187	3.635	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99320	1.0906	10	0.87932	D	0	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	242	P48549	IRK3_HUMAN	K	242	ENSP00000295101:E242K	ENSP00000295101:E242K	E	+	1	0	KCNJ3	155274382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.831000	0.97527	0.650000	0.86243	GAG		PASS	0.453	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		8	127	8	127	---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158162286	158162286	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:158162286G>A	ENST00000259056.4	+	8	2950	c.2465G>A	c.(2464-2466)tGc>tAc	p.C822Y		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	822	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.C822Y(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TTGGGTAAATGCATTTCCATT	0.348																																						uc002tzg.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(2464-2466)TGC>TAC		N-acetylgalactosaminyltransferase 5							174.0	160.0	165.0					2																	158162286		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158162286G>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2465G>A	2.37:g.158162286G>A	ENSP00000259056:p.Cys822Tyr					GALNT5_uc010zci.1_RNA	p.C822Y	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			8	2720	+			822			Lumenal (Potential).|Ricin B-type lectin.		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.2465G>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625170	0.66901	.	.	ENSG00000136542	ENST00000259056	T	0.50548	0.74	5.71	5.71	0.89125	Ricin B-related lectin (1);Ricin B lectin (3);	0.071947	0.56097	D	0.000031	T	0.66406	0.2786	M	0.72894	2.215	0.50313	D	0.999869	D	0.89917	1.0	D	0.97110	1.0	T	0.68857	-0.5298	10	0.87932	D	0	.	12.0208	0.53342	0.0797:0.0:0.9203:0.0	.	822	Q7Z7M9	GALT5_HUMAN	Y	822	ENSP00000259056:C822Y	ENSP00000259056:C822Y	C	+	2	0	GALNT5	157870532	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.735000	0.62051	2.687000	0.91594	0.655000	0.94253	TGC		PASS	0.348	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		12	134	12	134	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159477908	159477908	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:159477908G>C	ENST00000389759.3	+	6	690	c.578G>C	c.(577-579)aGa>aCa	p.R193T	PKP4_ENST00000389757.3_Missense_Mutation_p.R193T	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	193					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.R193T(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						AGGAATTCAAGAGCTGAAGGA	0.493										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(577-579)AGA>ACA		plakophilin 4 isoform a							98.0	84.0	88.0					2																	159477908		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159477908G>C	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.578G>C	2.37:g.159477908G>C	ENSP00000374409:p.Arg193Thr	HNSCC(62;0.18)				PKP4_uc002tzt.1_Missense_Mutation_p.R45T|PKP4_uc002tzu.2_Missense_Mutation_p.R193T|PKP4_uc002tzw.2_Missense_Mutation_p.R193T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.R191T|PKP4_uc002uaa.2_Missense_Mutation_p.R45T	p.R193T	NM_003628	NP_003619	Q99569	PKP4_HUMAN			6	838	+			193					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.578G>C	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710932	0.89112	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.75938	-0.98;-0.98	4.86	4.86	0.63082	.	0.327766	0.33534	N	0.004816	D	0.83926	0.5360	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.996;0.998	D	0.85280	0.1061	10	0.62326	D	0.03	-13.7844	18.3448	0.90318	0.0:0.0:1.0:0.0	.	45;193;193;45	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	T	45;193;193	ENSP00000374407:R193T;ENSP00000374409:R193T	ENSP00000374407:R193T	R	+	2	0	PKP4	159186154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.469000	0.80959	2.417000	0.82017	0.655000	0.94253	AGA		PASS	0.493	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			7	86	7	86	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159499115	159499115	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:159499115G>A	ENST00000389759.3	+	11	1925	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	PKP4_ENST00000389757.3_Missense_Mutation_p.E605K	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	605					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.E605K(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						GTCTACAGATGAAAATAAAAT	0.423										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(1813-1815)GAA>AAA		plakophilin 4 isoform a							151.0	152.0	151.0					2																	159499115		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159499115G>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.1813G>A	2.37:g.159499115G>A	ENSP00000374409:p.Glu605Lys	HNSCC(62;0.18)				PKP4_uc002tzt.1_Missense_Mutation_p.E457K|PKP4_uc002tzu.2_Missense_Mutation_p.E605K|PKP4_uc002tzw.2_Missense_Mutation_p.E605K|PKP4_uc002tzx.2_Missense_Mutation_p.E262K|PKP4_uc002tzy.1_Missense_Mutation_p.E263K|PKP4_uc002tzz.1_Missense_Mutation_p.E603K|PKP4_uc002uaa.2_Missense_Mutation_p.E457K	p.E605K	NM_003628	NP_003619	Q99569	PKP4_HUMAN			11	2073	+			605			ARM 4.		Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.1813G>A	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	36	5.757023	0.96898	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.71934	-0.61;-0.61	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.047655	0.85682	D	0.000000	T	0.82245	0.4995	M	0.80028	2.48	0.80722	D	1	P;P;P;P;P	0.50066	0.908;0.863;0.804;0.931;0.887	P;B;B;P;P	0.52454	0.696;0.42;0.213;0.699;0.501	T	0.83349	-0.0004	10	0.72032	D	0.01	-15.4493	20.6208	0.99490	0.0:0.0:1.0:0.0	.	457;560;605;605;456	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	K	456;605;605	ENSP00000374407:E605K;ENSP00000374409:E605K	ENSP00000374407:E605K	E	+	1	0	PKP4	159207361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	GAA		PASS	0.423	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			20	207	20	207	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159536975	159536975	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:159536975A>G	ENST00000389759.3	+	22	3477	c.3365A>G	c.(3364-3366)aAc>aGc	p.N1122S	AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.N1079S	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1122					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.N1122S(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						GATGACTCCAACAGAAAGAAC	0.328										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(3364-3366)AAC>AGC		plakophilin 4 isoform a							87.0	82.0	83.0					2																	159536975		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159536975A>G	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.3365A>G	2.37:g.159536975A>G	ENSP00000374409:p.Asn1122Ser	HNSCC(62;0.18)				PKP4_uc002tzw.2_Missense_Mutation_p.N1079S|PKP4_uc002tzx.2_Missense_Mutation_p.N779S|PKP4_uc002uaa.2_Missense_Mutation_p.N931S|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.N303S|PKP4_uc002uad.2_RNA	p.N1122S	NM_003628	NP_003619	Q99569	PKP4_HUMAN			22	3625	+			1122					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.3365A>G	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	A	0.208	-1.039024	0.02013	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.73258	-0.73;-0.72	5.49	1.82	0.25136	.	0.615276	0.17970	N	0.155919	T	0.40145	0.1105	N	0.08118	0	0.35444	D	0.795159	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.39981	-0.9587	10	0.02654	T	1	-2.0918	5.6193	0.17448	0.5375:0.2561:0.2064:0.0	.	1077;1079;1122	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	S	1079;1122	ENSP00000374407:N1079S;ENSP00000374409:N1122S	ENSP00000374407:N1079S	N	+	2	0	PKP4	159245221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.127000	0.31357	0.132000	0.18615	0.533000	0.62120	AAC		PASS	0.328	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			39	250	39	250	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160205325	160205325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:160205325C>T	ENST00000392783.2	-	30	5652	c.5157G>A	c.(5155-5157)tgG>tgA	p.W1719*	BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.W1685*|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.W1683*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.W1619*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1719					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.W1719*(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						CAATAATTCTCCACCAACCAA	0.323																																						uc002uao.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(5155-5157)TGG>TGA		bromodomain adjacent to zinc finger domain, 2B							95.0	82.0	86.0					2																	160205325		1809	4078	5887	SO:0001587	stop_gained	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160205325C>T	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.5157G>A	2.37:g.160205325C>T	ENSP00000376534:p.Trp1719*					BAZ2B_uc002uap.2_Nonsense_Mutation_p.W1683*	p.W1719*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			30	5509	-			1719					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Nonsense_Mutation	SNP	ENST00000392783.2	37	c.5157G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	47	13.266750	0.99731	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.	.	.	5.48	5.48	0.80851	.	0.000000	0.35151	U	0.003407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4159	19.7152	0.96115	0.0:1.0:0.0:0.0	.	.	.	.	X	1683;1719;1685;1619	.	ENSP00000339670:W1619X	W	-	3	0	BAZ2B	159913571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.733000	0.93635	0.591000	0.81541	TGG		PASS	0.323	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			8	155	8	155	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160836387	160836387	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:160836387C>G	ENST00000283243.7	-	14	2428	c.2222G>C	c.(2221-2223)aGa>aCa	p.R741T	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R741T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	741	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.R741T(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAGTGGGTTTCTTTTATTAAA	0.418																																						uc002ube.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2221-2223)AGA>ACA		phospholipase A2 receptor 1 isoform 1 precursor							61.0	59.0	59.0					2																	160836387		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160836387C>G	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2222G>C	2.37:g.160836387C>G	ENSP00000283243:p.Arg741Thr					PLA2R1_uc010zcp.1_Missense_Mutation_p.R741T|PLA2R1_uc002ubf.2_Missense_Mutation_p.R741T	p.R741T	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			14	2429	-			741			Extracellular (Potential).|C-type lectin 4.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.2222G>C	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177690	0.78564	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.16897	2.31;2.31	5.99	5.99	0.97316	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	M	0.75085	2.285	0.80722	D	1	P;D;D	0.89917	0.869;1.0;1.0	P;D;D	0.97110	0.707;0.999;1.0	T	0.05131	-1.0904	10	0.33141	T	0.24	.	19.2471	0.93906	0.0:1.0:0.0:0.0	.	741;741;741	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	T	741	ENSP00000283243:R741T;ENSP00000376524:R741T	ENSP00000283243:R741T	R	-	2	0	PLA2R1	160544633	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	3.824000	0.55723	2.847000	0.97988	0.655000	0.94253	AGA		PASS	0.418	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			21	100	21	100	---	---	---	---
TANK	10010	broad.mit.edu	37	2	162088005	162088005	+	Silent	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:162088005T>A	ENST00000392749.2	+	7	1283	c.1044T>A	c.(1042-1044)tcT>tcA	p.S348S	TANK_ENST00000405852.1_Silent_p.S348S|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Silent_p.S348S|TANK_ENST00000406287.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	348					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.S348S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TGGACCCATCTGATGCACCTT	0.433																																						uc002ubr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1042-1044)TCT>TCA		TRAF interacting protein TANK isoform a							64.0	62.0	63.0					2																	162088005		2203	4300	6503	SO:0001819	synonymous_variant	10010					cytosol	metal ion binding|protein binding	g.chr2:162088005T>A	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1044T>A	2.37:g.162088005T>A						TANK_uc002ubs.2_Silent_p.S348S	p.S348S	NM_004180	NP_004171	Q92844	TANK_HUMAN			7	1202	+			348					D3DPB5|Q7Z4J6|Q92885	Silent	SNP	ENST00000392749.2	37	c.1044T>A	CCDS2215.1																																																																																				PASS	0.433	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		12	151	12	151	---	---	---	---
TANK	10010	broad.mit.edu	37	2	162088022	162088022	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:162088022C>G	ENST00000392749.2	+	7	1300	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	TANK_ENST00000405852.1_Nonsense_Mutation_p.S354*|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Nonsense_Mutation_p.S354*|TANK_ENST00000406287.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	354					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.S354*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CCTTTTCCCTCACTCGATTCC	0.433																																						uc002ubr.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1060-1062)TCA>TGA		TRAF interacting protein TANK isoform a							55.0	54.0	54.0					2																	162088022		2203	4299	6502	SO:0001587	stop_gained	10010					cytosol	metal ion binding|protein binding	g.chr2:162088022C>G	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1061C>G	2.37:g.162088022C>G	ENSP00000376505:p.Ser354*					TANK_uc002ubs.2_Nonsense_Mutation_p.S354*	p.S354*	NM_004180	NP_004171	Q92844	TANK_HUMAN			7	1219	+			354					D3DPB5|Q7Z4J6|Q92885	Nonsense_Mutation	SNP	ENST00000392749.2	37	c.1061C>G	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286662	0.80803	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623;ENST00000439442	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.5646	19.9152	0.97057	0.0:1.0:0.0:0.0	.	.	.	.	X	354;354;354;245;109	.	ENSP00000259075:S354X	S	+	2	0	TANK	161796268	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	5.414000	0.66405	2.784000	0.95788	0.585000	0.79938	TCA		PASS	0.433	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		11	132	11	132	---	---	---	---
PSMD14	10213	broad.mit.edu	37	2	162175349	162175349	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:162175349C>G	ENST00000409682.3	+	3	717	c.13C>G	c.(13-15)Ctt>Gtt	p.L5V		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	5					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)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)	p.L5V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						GGACAGACTTCTTAGACTTGG	0.368																																						uc002ubu.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(13-15)CTT>GTT		proteasome 26S subunit, non-ATPase 14							131.0	129.0	130.0					2																	162175349		1822	4075	5897	SO:0001583	missense	10213				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|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity	g.chr2:162175349C>G	U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"""Proteasome (prosome, macropain) subunits"""	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.13C>G	2.37:g.162175349C>G	ENSP00000386541:p.Leu5Val						p.L5V	NM_005805	NP_005796	O00487	PSDE_HUMAN			3	480	+			5					B3KNW2|O00176	Missense_Mutation	SNP	ENST00000409682.3	37	c.13C>G	CCDS46437.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475001	0.26511	.	.	ENSG00000115233	ENST00000409682;ENST00000437630	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	T	0.78861	0.4350	M	0.76328	2.33	0.54753	D	0.999984	P	0.34587	0.458	P	0.54210	0.745	T	0.74940	-0.3493	8	0.32370	T	0.25	-4.208	13.2738	0.60177	0.0:0.9272:0.0:0.0728	.	5	O00487	PSDE_HUMAN	V	5	.	ENSP00000386541:L5V	L	+	1	0	PSMD14	161883595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.047000	0.57383	2.814000	0.96858	0.655000	0.94253	CTT		PASS	0.368	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805		10	80	10	80	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163302603	163302603	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:163302603G>A	ENST00000332142.5	-	7	1578	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	KCNH7_ENST00000328032.4_Silent_p.F486F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	493					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.F493F(1)|p.F486F(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCAGCCTTTGAAGTAGTGTA	0.343																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(1477-1479)TTC>TTT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						114.0	104.0	107.0					2																	163302603		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302603G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1479C>T	2.37:g.163302603G>A						KCNH7_uc002uci.2_Silent_p.F486F	p.F493F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			7	1691	-			493			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.1479C>T	CCDS2219.1																																																																																				PASS	0.343	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		17	115	17	115	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166771904	166771904	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:166771904C>T	ENST00000243344.7	-	15	2082	c.1945G>A	c.(1945-1947)Gga>Aga	p.G649R		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	649					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.G649R(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCAGATGTTCCAGAAAATTCA	0.383																																						uc002udk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(1945-1947)GGA>AGA		tetratricopeptide repeat domain 21B							181.0	183.0	183.0					2																	166771904		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166771904C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1945G>A	2.37:g.166771904C>T	ENSP00000243344:p.Gly649Arg						p.G649R	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			15	2078	-			649			TPR 8.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.1945G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289526	0.95517	.	.	ENSG00000123607	ENST00000243344	T	0.75589	-0.95	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80974	0.4727	M	0.85462	2.755	0.80722	D	1	B	0.31893	0.345	B	0.36378	0.223	T	0.80377	-0.1408	10	0.48119	T	0.1	-20.3682	19.8155	0.96566	0.0:1.0:0.0:0.0	.	649	Q7Z4L5	TT21B_HUMAN	R	649	ENSP00000243344:G649R	ENSP00000243344:G649R	G	-	1	0	TTC21B	166480150	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.691000	0.91804	0.563000	0.77884	GGA		PASS	0.383	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		74	549	74	549	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167279877	167279877	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:167279877C>T	ENST00000409855.1	-	18	3045	c.2919G>A	c.(2917-2919)atG>atA	p.M973I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	973					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M973I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AAGTAAAGATCATGTCAGCAT	0.328																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(2917-2919)ATG>ATA		sodium channel, voltage-gated, type VII, alpha							73.0	68.0	70.0					2																	167279877		1910	4172	6082	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167279877C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2919G>A	2.37:g.167279877C>T	ENSP00000386796:p.Met973Ile					SCN7A_uc010fpm.1_RNA	p.M973I	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			18	3046	-			973			Helical; Name=S2 of repeat III; (By similarity).			Missense_Mutation	SNP	ENST00000409855.1	37	c.2919G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071306	0.55646	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98234	-4.81	4.65	3.7	0.42460	Ion transport (1);	0.082464	0.52532	D	0.000074	D	0.93446	0.7909	N	0.00980	-1.08	0.28869	N	0.895052	D	0.63880	0.993	P	0.57620	0.824	D	0.87000	0.2116	10	0.49607	T	0.09	.	5.3486	0.16024	0.2005:0.6974:0.0:0.1021	.	973	Q01118	SCN7A_HUMAN	I	973	ENSP00000386796:M973I	ENSP00000259060:M973I	M	-	3	0	SCN7A	166988123	0.526000	0.26298	1.000000	0.80357	0.996000	0.88848	0.333000	0.19768	2.567000	0.86603	0.585000	0.79938	ATG		PASS	0.328	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			30	48	30	48	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099484	168099484	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:168099484C>G	ENST00000409195.1	+	9	1671	c.1582C>G	c.(1582-1584)Caa>Gaa	p.Q528E	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q306E|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q528E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	353					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Q528E(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTTTCTAGTCAAATGAACTC	0.338																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(1582-1584)CAA>GAA		xin actin-binding repeat containing 2 isoform 1							28.0	27.0	27.0					2																	168099484		1822	4078	5900	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099484C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1582C>G	2.37:g.168099484C>G	ENSP00000386840:p.Gln528Glu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q353E|XIRP2_uc010fpq.2_Missense_Mutation_p.Q306E|XIRP2_uc010fpr.2_Intron	p.Q528E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	1600	+			353					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1582C>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	8.631	0.893579	0.17613	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02395	4.32;4.32;4.31	5.54	5.54	0.83059	.	0.632065	0.16462	N	0.213392	T	0.02156	0.0067	N	0.14661	0.345	0.28978	N	0.88882	B;P;P	0.36837	0.435;0.571;0.571	B;B;B	0.36608	0.078;0.229;0.121	T	0.47018	-0.9149	10	0.22109	T	0.4	-6.5426	9.2589	0.37601	0.2606:0.6053:0.1342:0.0	.	353;353;306	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	528;528;306	ENSP00000386840:Q528E;ENSP00000295237:Q528E;ENSP00000387255:Q306E	ENSP00000295237:Q528E	Q	+	1	0	XIRP2	167807730	0.274000	0.24191	0.992000	0.48379	0.936000	0.57629	0.334000	0.19787	2.615000	0.88500	0.655000	0.94253	CAA		PASS	0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		9	75	9	75	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106531	168106531	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:168106531G>A	ENST00000409195.1	+	9	8718	c.8629G>A	c.(8629-8631)Gct>Act	p.A2877T	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A2655T|XIRP2_ENST00000295237.9_Missense_Mutation_p.A2877T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2702					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.A2877T(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATACAGACCGCTGAAAGTAA	0.388																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8629-8631)GCT>ACT		xin actin-binding repeat containing 2 isoform 1							88.0	84.0	85.0					2																	168106531		1844	4088	5932	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106531G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8629G>A	2.37:g.168106531G>A	ENSP00000386840:p.Ala2877Thr					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A2702T|XIRP2_uc010fpq.2_Missense_Mutation_p.A2655T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.A223T	p.A2877T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8647	+			2702					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8629G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354153	0.24512	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02472	4.28;4.28;4.29	6.02	4.87	0.63330	.	0.941127	0.09108	N	0.847465	T	0.02380	0.0073	N	0.08118	0	0.21184	N	0.999761	B;B;B	0.17667	0.001;0.001;0.023	B;B;B	0.13407	0.002;0.004;0.009	T	0.49437	-0.8940	10	0.38643	T	0.18	-0.3355	11.5304	0.50607	0.0:0.0:0.1503:0.8497	.	2702;2702;2655	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	2877;2877;2655;291	ENSP00000386840:A2877T;ENSP00000295237:A2877T;ENSP00000387255:A2655T	ENSP00000295237:A2877T	A	+	1	0	XIRP2	167814777	0.613000	0.27009	0.495000	0.27527	0.425000	0.31504	1.561000	0.36342	1.102000	0.41551	-0.264000	0.10439	GCT		PASS	0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		28	185	28	185	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170090056	170090056	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:170090056C>G	ENST00000263816.3	-	30	5248	c.4963G>C	c.(4963-4965)Gtg>Ctg	p.V1655L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1655					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V1655L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTCCAGTACACAGAGTCTTCA	0.488																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(4963-4965)GTG>CTG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						74.0	68.0	70.0					2																	170090056		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170090056C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4963G>C	2.37:g.170090056C>G	ENSP00000263816:p.Val1655Leu						p.V1655L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	30	5176	-			1655			LDL-receptor class B 14.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4963G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046483	0.36085	.	.	ENSG00000081479	ENST00000263816	D	0.88741	-2.42	5.16	2.36	0.29203	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.172121	0.50627	D	0.000103	D	0.89715	0.6795	L	0.39397	1.21	0.80722	D	1	D	0.65815	0.995	D	0.74674	0.984	D	0.85323	0.1085	10	0.27785	T	0.31	.	10.1475	0.42774	0.0:0.7815:0.0:0.2185	.	1655	P98164	LRP2_HUMAN	L	1655	ENSP00000263816:V1655L	ENSP00000263816:V1655L	V	-	1	0	LRP2	169798302	0.888000	0.30383	0.321000	0.25320	0.097000	0.18754	1.682000	0.37628	0.280000	0.22209	0.557000	0.71058	GTG		PASS	0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		11	107	11	107	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171264306	171264306	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:171264306G>C	ENST00000408978.4	+	22	2745	c.2602G>C	c.(2602-2604)Gaa>Caa	p.E868Q	MYO3B_ENST00000334231.6_Missense_Mutation_p.E877Q|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.E868Q	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	868	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.E868Q(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GAGAACGTCAGAAAACAAGCT	0.453																																						uc002ufy.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(2602-2604)GAA>CAA		myosin IIIB isoform 2							197.0	190.0	192.0					2																	171264306		1920	4131	6051	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171264306G>C		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2602G>C	2.37:g.171264306G>C	ENSP00000386213:p.Glu868Gln					MYO3B_uc002ufv.2_Missense_Mutation_p.E855Q|MYO3B_uc010fqb.1_Missense_Mutation_p.E855Q|MYO3B_uc002ufz.2_Missense_Mutation_p.E868Q|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	p.E868Q	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			22	2745	+			868			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.2602G>C	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339486	0.41398	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.49	3.69	0.42338	Myosin head, motor domain (2);	0.091282	0.85682	D	0.000000	T	0.55337	0.1914	N	0.20530	0.585	0.46298	D	0.998979	B;B;B	0.21520	0.057;0.024;0.029	B;B;B	0.24848	0.056;0.037;0.039	T	0.46133	-0.9213	10	0.31617	T	0.26	.	12.1837	0.54226	0.1394:0.0:0.8606:0.0	.	868;868;868	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	Q	868;868;867;877;877	ENSP00000386497:E868Q;ENSP00000386213:E868Q;ENSP00000446237:E877Q;ENSP00000335100:E877Q	ENSP00000314213:E867Q	E	+	1	0	MYO3B	170972552	1.000000	0.71417	0.959000	0.39883	0.938000	0.57974	4.848000	0.62874	0.690000	0.31570	0.655000	0.94253	GAA		PASS	0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			54	317	54	317	---	---	---	---
ITGA6	3655	broad.mit.edu	37	2	173352699	173352699	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:173352699C>G	ENST00000264106.6	+	19	2655	c.2452C>G	c.(2452-2454)Caa>Gaa	p.Q818E	ITGA6_ENST00000375221.2_Missense_Mutation_p.Q818E|ITGA6_ENST00000264107.7_Missense_Mutation_p.Q779E|ITGA6_ENST00000409080.1_Missense_Mutation_p.Q779E|ITGA6_ENST00000343713.4_Missense_Mutation_p.Q774E|ITGA6_ENST00000409532.1_Missense_Mutation_p.Q660E|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	818					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.Q779E(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AACAAGCAATCAAGATAATTT	0.358																																						uc002uhp.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(2335-2337)CAA>GAA		integrin alpha chain, alpha 6 isoform a							144.0	141.0	142.0					2																	173352699		2203	4300	6503	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173352699C>G		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2452C>G	2.37:g.173352699C>G	ENSP00000264106:p.Gln818Glu					ITGA6_uc010zdy.1_Missense_Mutation_p.Q660E|ITGA6_uc002uho.1_Missense_Mutation_p.Q779E|ITGA6_uc010fqm.1_Missense_Mutation_p.Q425E	p.Q779E	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		18	2538	+			818			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2335C>G		.	.	.	.	.	.	.	.	.	.	C	16.49	3.138016	0.56936	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.46451	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;0.87	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.64567	1.98	0.80722	D	1	B;D;B;D	0.60160	0.059;0.987;0.235;0.968	B;P;B;P	0.60117	0.039;0.869;0.202;0.672	T	0.58819	-0.7569	10	0.54805	T	0.06	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	774;818;779;779	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	E	660;779;818;818;774;779;818;774;4	ENSP00000386614:Q660E;ENSP00000264107:Q779E;ENSP00000264106:Q818E;ENSP00000364369:Q818E;ENSP00000341078:Q774E;ENSP00000386896:Q779E;ENSP00000406694:Q818E;ENSP00000394169:Q774E;ENSP00000388435:Q4E	ENSP00000264106:Q818E	Q	+	1	0	ITGA6	173060945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.008000	0.76341	2.866000	0.98385	0.650000	0.86243	CAA		PASS	0.358	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				24	274	24	274	---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173850168	173850168	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:173850168G>C	ENST00000397081.3	+	12	1240	c.1097G>C	c.(1096-1098)cGa>cCa	p.R366P	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R146P|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.R365P|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R213P|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R366P|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R222P|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R213P|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R195P	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	366					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R366P(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TAGGTGAAACGAGAGTTAGCA	0.483																																						uc002uhv.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(1096-1098)CGA>CCA		Rap guanine nucleotide exchange factor (GEF) 4							233.0	212.0	218.0					2																	173850168		1949	4145	6094	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173850168G>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1097G>C	2.37:g.173850168G>C	ENSP00000380271:p.Arg366Pro					RAPGEF4_uc002uhu.2_Missense_Mutation_p.R366P|RAPGEF4_uc002uhw.3_Missense_Mutation_p.R222P|RAPGEF4_uc010zec.1_Missense_Mutation_p.R213P|RAPGEF4_uc010zed.1_Missense_Mutation_p.R195P|RAPGEF4_uc010zee.1_Missense_Mutation_p.R213P|RAPGEF4_uc010fqo.2_Missense_Mutation_p.R195P|RAPGEF4_uc010zef.1_Missense_Mutation_p.R146P|RAPGEF4_uc010zeg.1_Missense_Mutation_p.R193P|RAPGEF4_uc010fqp.1_Missense_Mutation_p.R146P|RAPGEF4_uc010zeh.1_Missense_Mutation_p.R146P	p.R366P	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		12	1284	+			366			cAMP 2.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.1097G>C	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056286	0.76074	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.61	5.61	0.85477	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.056627	0.64402	D	0.000002	D	0.89805	0.6821	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.995;0.99	D;P;D;D;D	0.72075	0.954;0.88;0.976;0.947;0.947	D	0.90065	0.4159	10	0.87932	D	0	.	13.2374	0.59976	0.0725:0.0:0.9275:0.0	.	193;195;222;366;366	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	P	365;366;366;222;195;213;213;193;146	ENSP00000264111:R365P;ENSP00000380271:R366P;ENSP00000387104:R366P;ENSP00000380276:R222P;ENSP00000440135:R195P;ENSP00000440250:R213P;ENSP00000437384:R213P;ENSP00000438011:R146P	ENSP00000264111:R365P	R	+	2	0	RAPGEF4	173558414	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	9.382000	0.97209	2.793000	0.96121	0.655000	0.94253	CGA		PASS	0.483	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		6	435	6	435	---	---	---	---
KIAA1715	80856	broad.mit.edu	37	2	176812411	176812411	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:176812411T>A	ENST00000272748.4	-	9	750	c.503A>T	c.(502-504)cAg>cTg	p.Q168L	KIAA1715_ENST00000544803.1_Missense_Mutation_p.Q168L|KIAA1715_ENST00000535310.1_Missense_Mutation_p.Q93L	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	168					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.Q168L(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TGCAGTTCGCTGACGAATCTC	0.413																																						uc002ukc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(502-504)CAG>CTG		Lunapark							108.0	97.0	101.0					2																	176812411		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176812411T>A	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.503A>T	2.37:g.176812411T>A	ENSP00000272748:p.Gln168Leu					KIAA1715_uc010zer.1_Missense_Mutation_p.Q168L|KIAA1715_uc010fqw.1_Missense_Mutation_p.Q234L|KIAA1715_uc010zes.1_Missense_Mutation_p.Q170L|KIAA1715_uc002ukd.1_Missense_Mutation_p.Q45L|KIAA1715_uc010zet.1_RNA	p.Q168L	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		9	696	-			168			Cytoplasmic (Potential).		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.503A>T	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968518	0.74131	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	6.02	4.87	0.63330	.	0.047788	0.85682	D	0.000000	T	0.70500	0.3231	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.65815	0.993;0.972;0.995;0.992	P;P;P;P	0.62491	0.903;0.786;0.837;0.818	T	0.73209	-0.4055	9	0.87932	D	0	-4.928	12.1033	0.53796	0.0:0.0667:0.0:0.9333	.	170;168;165;168	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	L	168;170;45;168;93	.	ENSP00000272748:Q168L	Q	-	2	0	KIAA1715	176520657	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.958000	0.76025	1.106000	0.41623	-0.256000	0.11100	CAG		PASS	0.413	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		31	156	31	156	---	---	---	---
DFNB59	494513	broad.mit.edu	37	2	179319148	179319148	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179319148G>C	ENST00000409117.3	+	3	657	c.301G>C	c.(301-303)Ggg>Cgg	p.G101R	PRKRA_ENST00000470200.1_5'Flank|DFNB59_ENST00000375129.4_Missense_Mutation_p.G101R	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	101					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)		p.G101R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AAATGACGTTGGGATTAACGT	0.338																																						uc002umi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)GGG>CGG		deafness, autosomal recessive 59							102.0	99.0	100.0					2																	179319148		1894	4117	6011	SO:0001583	missense	494513				sensory perception of sound			g.chr2:179319148G>C	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.301G>C	2.37:g.179319148G>C	ENSP00000386647:p.Gly101Arg					DFNB59_uc002umj.3_Missense_Mutation_p.G101R	p.G101R	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		3	657	+			101					A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	c.301G>C	CCDS42787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.943874|4.943874	0.92593|0.92593	.|.	.|.	ENSG00000204311|ENSG00000204311	ENST00000409117;ENST00000375129|ENST00000442710	T;T|.	0.21031|.	2.03;2.03|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	3.055830|.	0.04141|.	U|.	0.319520|.	T|T	0.70219|0.70219	0.3199|0.3199	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.64428|0.64428	-0.6410|-0.6410	10|5	0.29301|.	T|.	0.29|.	2.0004|2.0004	20.1421|20.1421	0.98061|0.98061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	101|.	Q0ZLH3|.	PJVK_HUMAN|.	R|S	101|48	ENSP00000386647:G101R;ENSP00000364271:G101R|.	ENSP00000364271:G101R|.	G|W	+|+	1|2	0|0	DFNB59|DFNB59	179027394|179027394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.420000|9.420000	0.97426|0.97426	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GGG|TGG		PASS	0.338	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			7	187	7	187	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179407873	179407873	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179407873C>G	ENST00000591111.1	-	297	92128	c.91904G>C	c.(91903-91905)aGa>aCa	p.R30635T	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23336T|TTN_ENST00000460472.2_Missense_Mutation_p.R23211T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R32276T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23403T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29708T			Q8WZ42	TITIN_HUMAN	titin	30635	Fibronectin type-III 123. {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.R29708K(2)|p.R23336K(2)|p.R23211K(2)|p.R23403K(2)|p.R29706K(2)|p.R29706T(1)|p.R23403T(1)|p.R23211T(1)|p.R29708T(1)|p.R23336T(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)			TGCCCTTATTCTAAATAAGTA	0.418																																						uc010zfg.1																			15	Substitution - Missense(15)		lung(15)	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.(89122-89124)AGA>ACA		titin isoform N2-A							208.0	201.0	203.0					2																	179407873		1890	4127	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407873C>G	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.91904G>C	2.37:g.179407873C>G	ENSP00000465570:p.Arg30635Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R23403T|TTN_uc010zfi.1_Missense_Mutation_p.R23336T|TTN_uc010zfj.1_Missense_Mutation_p.R23211T	p.R29708T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		296	89347	-			30635					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.89123G>C		.	.	.	.	.	.	.	.	.	.	C	19.48	3.836079	0.71373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.61	5.61	0.85477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79125	0.4393	M	0.81179	2.53	0.58432	D	0.999999	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;0.999	T	0.80768	-0.1235	9	0.87932	D	0	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	23211;23336;23403;30635	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	29708;23211;23403;23336;23208	ENSP00000343764:R29708T;ENSP00000434586:R23211T;ENSP00000340554:R23403T;ENSP00000352154:R23336T	ENSP00000340554:R23403T	R	-	2	0	TTN	179116119	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	AGA		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		86	540	86	540	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179408933	179408933	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179408933C>G	ENST00000591111.1	-	295	91324	c.91100G>C	c.(91099-91101)aGa>aCa	p.R30367T	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23068T|TTN_ENST00000460472.2_Missense_Mutation_p.R22943T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R32008T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23135T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29440T			Q8WZ42	TITIN_HUMAN	titin	30367	Fibronectin type-III 121. {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.R29440T(1)|p.R22943T(1)|p.R29438T(1)|p.R23068T(1)|p.R23135T(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)			AATACCTATTCTTTCCACGGG	0.373																																						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.(88318-88320)AGA>ACA		titin isoform N2-A							74.0	72.0	73.0					2																	179408933		1836	4086	5922	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408933C>G	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.91100G>C	2.37:g.179408933C>G	ENSP00000465570:p.Arg30367Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R23135T|TTN_uc010zfi.1_Missense_Mutation_p.R23068T|TTN_uc010zfj.1_Missense_Mutation_p.R22943T	p.R29440T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		294	88543	-			30367					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.88319G>C		.	.	.	.	.	.	.	.	.	.	C	9.335	1.061463	0.19987	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62639	0.01;0.25;0.23;0.22	6.04	6.04	0.98038	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.76758	0.4032	M	0.64567	1.98	0.50632	D	0.999884	D;D;D;D	0.69078	0.993;0.993;0.993;0.997	P;P;P;P	0.60789	0.738;0.738;0.738;0.879	T	0.77003	-0.2749	9	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	22943;23068;23135;30367	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	29440;22943;23135;23068;22940	ENSP00000343764:R29440T;ENSP00000434586:R22943T;ENSP00000340554:R23135T;ENSP00000352154:R23068T	ENSP00000340554:R23135T	R	-	2	0	TTN	179117179	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	3.287000	0.51732	2.873000	0.98535	0.561000	0.74099	AGA		PASS	0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	130	33	130	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179412489	179412489	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179412489C>T	ENST00000591111.1	-	289	89165	c.88941G>A	c.(88939-88941)ttG>ttA	p.L29647L	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L22348L|TTN_ENST00000460472.2_Silent_p.L22223L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Silent_p.L31288L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.L22415L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.L28720L			Q8WZ42	TITIN_HUMAN	titin	29647	Ig-like 135.				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.L28718L(1)|p.L28720L(1)|p.L22348L(1)|p.L22415L(1)|p.L22223L(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)			TTTCCAGGGTCAAGAAGTATC	0.458																																						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.(86158-86160)TTG>TTA		titin isoform N2-A							133.0	125.0	128.0					2																	179412489		2011	4185	6196	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412489C>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.88941G>A	2.37:g.179412489C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L22415L|TTN_uc010zfi.1_Silent_p.L22348L|TTN_uc010zfj.1_Silent_p.L22223L	p.L28720L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	86384	-			29647					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.86160G>A																																																																																					PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		57	75	57	75	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179426190	179426190	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179426190C>G	ENST00000591111.1	-	276	79970	c.79746G>C	c.(79744-79746)ctG>ctC	p.L26582L	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L19283L|TTN_ENST00000460472.2_Silent_p.L19158L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Silent_p.L28223L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.L19350L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.L25655L			Q8WZ42	TITIN_HUMAN	titin	26582	Fibronectin type-III 93. {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.L25655L(1)|p.L19350L(1)|p.L19158L(1)|p.L19283L(1)|p.L25653L(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)			ACTCATACATCAGTCCTTCAT	0.393																																						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.(76963-76965)CTG>CTC		titin isoform N2-A							127.0	117.0	120.0					2																	179426190		1890	4133	6023	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179426190C>G	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.79746G>C	2.37:g.179426190C>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L19350L|TTN_uc010zfi.1_Silent_p.L19283L|TTN_uc010zfj.1_Silent_p.L19158L	p.L25655L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	77189	-			26582					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.76965G>C																																																																																					PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	232	35	232	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179447699	179447699	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179447699G>C	ENST00000591111.1	-	263	61132	c.60908C>G	c.(60907-60909)tCt>tGt	p.S20303C	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S13004C|TTN_ENST00000460472.2_Missense_Mutation_p.S12879C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S21944C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S13071C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S19376C			Q8WZ42	TITIN_HUMAN	titin	20303	Ig-like 111.				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.S19376C(1)|p.S12879C(1)|p.S19374C(1)|p.S13004C(1)|p.S13071C(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)			GGCTGATTTAGAACCACTTGA	0.398																																						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.(58126-58128)TCT>TGT		titin isoform N2-A							98.0	93.0	94.0					2																	179447699		1903	4122	6025	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179447699G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60908C>G	2.37:g.179447699G>C	ENSP00000465570:p.Ser20303Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S13071C|TTN_uc010zfi.1_Missense_Mutation_p.S13004C|TTN_uc010zfj.1_Missense_Mutation_p.S12879C	p.S19376C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		262	58351	-			20303					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.58127C>G		.	.	.	.	.	.	.	.	.	.	G	14.02	2.410994	0.42817	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.91	5.91	0.95273	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79257	0.4415	L	0.56199	1.76	0.42940	D	0.994341	D;D;D;D	0.76494	0.999;0.999;0.999;0.997	D;D;D;P	0.65323	0.934;0.934;0.934;0.905	T	0.79804	-0.1649	9	0.87932	D	0	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	12879;13004;13071;20303	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	19376;12879;13071;13004;12877	ENSP00000343764:S19376C;ENSP00000434586:S12879C;ENSP00000340554:S13071C;ENSP00000352154:S13004C	ENSP00000340554:S13071C	S	-	2	0	TTN	179155945	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.490000	0.66881	2.801000	0.96364	0.655000	0.94253	TCT		PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	54	7	54	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179471884	179471884	+	Missense_Mutation	SNP	T	T	C	rs370843257		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179471884T>C	ENST00000591111.1	-	228	48746	c.48522A>G	c.(48520-48522)atA>atG	p.I16174M	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I8875M|TTN_ENST00000460472.2_Missense_Mutation_p.I8750M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I17815M|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I8942M|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I15247M			Q8WZ42	TITIN_HUMAN	titin	16174	Fibronectin type-III 17. {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.I15247M(2)|p.I8875M(1)|p.I8942M(1)|p.I8750M(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)			TCTCAGTCTCTATTGGTTGTC	0.418																																						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.(45739-45741)ATA>ATG		titin isoform N2-A		T	MET/ILE,MET/ILE,MET/ILE,MET/ILE	0,3790		0,0,1895	243.0	233.0	236.0		26250,45741,26625,26826	3.4	1.0	2		236	1,8275		0,1,4137	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	10,10,10,10	0,1,6032	CC,CT,TT		0.0121,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8750/26927,15247/33424,8875/27052,8942/27119	179471884	1,12065	1895	4138	6033	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179471884T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48522A>G	2.37:g.179471884T>C	ENSP00000465570:p.Ile16174Met					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I8942M|TTN_uc010zfi.1_Missense_Mutation_p.I8875M|TTN_uc010zfj.1_Missense_Mutation_p.I8750M	p.I15247M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		227	45965	-			16174					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.45741A>G		.	.	.	.	.	.	.	.	.	.	T	7.153	0.584165	0.13749	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.84	3.38	0.38709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46833	0.1413	N	0.16130	0.375	0.37208	D	0.904673	D;D;D;D	0.54397	0.966;0.966;0.966;0.966	P;P;P;P	0.55923	0.787;0.787;0.787;0.787	T	0.54105	-0.8343	9	0.87932	D	0	.	8.7149	0.34405	0.1164:0.0:0.2559:0.6277	.	8750;8875;8942;16174	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	15247;8750;8942;8875;8750	ENSP00000343764:I15247M;ENSP00000434586:I8750M;ENSP00000340554:I8942M;ENSP00000352154:I8875M	ENSP00000340554:I8942M	I	-	3	3	TTN	179180129	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.389000	0.20751	0.424000	0.26061	0.533000	0.62120	ATA		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		58	362	58	362	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179516856	179516856	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179516856T>C	ENST00000591111.1	-	159	34965	c.34741A>G	c.(34741-34743)Att>Gtt	p.I11581V	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I13088V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I10654V			Q8WZ42	TITIN_HUMAN	titin	11581	Glu-rich.|Pro-rich.				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.I10654V(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)			TTGGGAGGAATAGCTTCAGGC	0.343																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(31960-31962)ATT>GTT		titin isoform N2-A							103.0	99.0	100.0					2																	179516856		1811	4074	5885	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516856T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34741A>G	2.37:g.179516856T>C	ENSP00000465570:p.Ile11581Val					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	p.I10654V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		158	32184	-			11581					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.31960A>G		.	.	.	.	.	.	.	.	.	.	T	3.089	-0.187271	0.06299	.	.	ENSG00000155657	ENST00000342992	T	0.62105	0.05	5.0	-8.65	0.00870	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.37433	0.1003	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39099	-0.9630	9	0.87932	D	0	.	6.5695	0.22531	0.0914:0.3242:0.4608:0.1236	.	11581	Q8WZ42	TITIN_HUMAN	V	10654	ENSP00000343764:I10654V	ENSP00000343764:I10654V	I	-	1	0	TTN	179225101	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.692000	0.05127	-1.067000	0.03160	-1.237000	0.01550	ATT		PASS	0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	212	25	212	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179638667	179638667	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179638667G>C	ENST00000591111.1	-	31	7452	c.7228C>G	c.(7228-7230)Cat>Gat	p.H2410D	TTN_ENST00000360870.5_Missense_Mutation_p.H2410D|TTN_ENST00000359218.5_Missense_Mutation_p.H2364D|TTN_ENST00000460472.2_Missense_Mutation_p.H2364D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H2410D|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H2364D|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H2410D			Q8WZ42	TITIN_HUMAN	titin	12732	Ig-like 13.				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.H2364D(3)|p.H2410D(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)			AGCAGCATATGAGATTGTTTG	0.478																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	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.(7228-7230)CAT>GAT		titin isoform N2-A							141.0	119.0	126.0					2																	179638667		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638667G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7228C>G	2.37:g.179638667G>C	ENSP00000465570:p.His2410Asp					TTN_uc010zfh.1_Missense_Mutation_p.H2364D|TTN_uc010zfi.1_Missense_Mutation_p.H2364D|TTN_uc010zfj.1_Missense_Mutation_p.H2364D|TTN_uc002unb.2_Missense_Mutation_p.H2410D|uc002unc.1_5'Flank	p.H2410D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		31	7452	-			2410					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.7228C>G		.	.	.	.	.	.	.	.	.	.	G	14.43	2.533774	0.45073	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84759	0.5543	M	0.87758	2.905	0.44927	D	0.997941	D;D;D;D;D	0.76494	0.961;0.961;0.961;0.98;0.999	P;P;P;P;D	0.69479	0.819;0.819;0.819;0.894;0.964	D	0.86448	0.1771	9	0.87932	D	0	.	20.1142	0.97922	0.0:0.0:1.0:0.0	.	2364;2364;2364;2410;2410	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	2410;2364;2364;2364;2364;2410	ENSP00000343764:H2410D;ENSP00000434586:H2364D;ENSP00000340554:H2364D;ENSP00000352154:H2364D;ENSP00000354117:H2410D	ENSP00000340554:H2364D	H	-	1	0	TTN	179346912	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.765000	0.95021	0.650000	0.86243	CAT		PASS	0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	230	20	230	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179640827	179640827	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179640827C>T	ENST00000591111.1	-	28	5988	c.5764G>A	c.(5764-5766)Gag>Aag	p.E1922K	TTN_ENST00000360870.5_Missense_Mutation_p.E1922K|TTN_ENST00000359218.5_Missense_Mutation_p.E1876K|TTN_ENST00000460472.2_Missense_Mutation_p.E1876K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E1922K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E1876K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E1922K			Q8WZ42	TITIN_HUMAN	titin	12759	Ig-like 9.				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.E1922K(3)|p.E1876K(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)			ACTTTATGCTCTATCACACCT	0.463																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	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.(5764-5766)GAG>AAG		titin isoform N2-A							201.0	205.0	204.0					2																	179640827		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640827C>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.5764G>A	2.37:g.179640827C>T	ENSP00000465570:p.Glu1922Lys					TTN_uc010zfh.1_Missense_Mutation_p.E1876K|TTN_uc010zfi.1_Missense_Mutation_p.E1876K|TTN_uc010zfj.1_Missense_Mutation_p.E1876K|TTN_uc002unb.2_Missense_Mutation_p.E1922K|uc002unc.1_5'Flank	p.E1922K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5988	-			1922					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.5764G>A		.	.	.	.	.	.	.	.	.	.	C	14.26	2.481494	0.44147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78978	0.4369	L	0.50847	1.595	0.42195	D	0.991741	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.81404	-0.0948	9	0.87932	D	0	.	18.5142	0.90930	0.0:1.0:0.0:0.0	.	1876;1876;1876;1922;1922	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1922;1876;1876;1876;1876;1922	ENSP00000343764:E1922K;ENSP00000434586:E1876K;ENSP00000340554:E1876K;ENSP00000352154:E1876K;ENSP00000354117:E1922K	ENSP00000340554:E1876K	E	-	1	0	TTN	179349072	1.000000	0.71417	0.986000	0.45419	0.979000	0.70002	7.779000	0.85648	2.385000	0.81259	0.609000	0.83330	GAG		PASS	0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		62	450	62	450	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179642692	179642692	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179642692G>A	ENST00000591111.1	-	25	4443	c.4219C>T	c.(4219-4221)Cca>Tca	p.P1407S	TTN_ENST00000360870.5_Missense_Mutation_p.P1407S|TTN_ENST00000359218.5_Missense_Mutation_p.P1361S|TTN_ENST00000460472.2_Missense_Mutation_p.P1361S|TTN_ENST00000589042.1_Missense_Mutation_p.P1407S|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P1361S|TTN_ENST00000342992.6_Missense_Mutation_p.P1407S			Q8WZ42	TITIN_HUMAN	titin	33603					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.P1407S(3)|p.P1361S(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)			ACTGAACGTGGAGAGAGAGAT	0.448																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	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.(4219-4221)CCA>TCA		titin isoform N2-A							35.0	32.0	33.0					2																	179642692		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179642692G>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.4219C>T	2.37:g.179642692G>A	ENSP00000465570:p.Pro1407Ser					TTN_uc010zfh.1_Missense_Mutation_p.P1361S|TTN_uc010zfi.1_Missense_Mutation_p.P1361S|TTN_uc010zfj.1_Missense_Mutation_p.P1361S|TTN_uc002unb.2_Missense_Mutation_p.P1407S|uc002unc.1_RNA	p.P1407S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		25	4443	-			1407					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.4219C>T		.	.	.	.	.	.	.	.	.	.	G	14.89	2.669759	0.47677	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66460	-0.21;0.05;0.03;0.02;0.01	5.88	4.99	0.66335	Ribonuclease H-like (1);	.	.	.	.	T	0.77955	0.4208	M	0.61703	1.905	0.36102	D	0.84418	P;P;P;P;D	0.69078	0.912;0.912;0.912;0.912;0.997	B;B;B;B;P	0.60682	0.251;0.251;0.251;0.251;0.878	D	0.84869	0.0824	9	0.87932	D	0	.	16.6212	0.84931	0.0:0.1303:0.8697:0.0	.	1361;1361;1361;1407;1407	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	1407;1361;1361;1361;1361;1407	ENSP00000343764:P1407S;ENSP00000434586:P1361S;ENSP00000340554:P1361S;ENSP00000352154:P1361S;ENSP00000354117:P1407S	ENSP00000340554:P1361S	P	-	1	0	TTN	179350937	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.923000	0.92808	1.447000	0.47661	0.650000	0.86243	CCA		PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	67	8	67	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179659746	179659746	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179659746T>A	ENST00000591111.1	-	7	1372	c.1148A>T	c.(1147-1149)cAg>cTg	p.Q383L	TTN_ENST00000360870.5_Missense_Mutation_p.Q383L|TTN_ENST00000359218.5_Missense_Mutation_p.Q383L|TTN_ENST00000460472.2_Missense_Mutation_p.Q383L|TTN_ENST00000589042.1_Missense_Mutation_p.Q383L|TTN_ENST00000342175.6_Missense_Mutation_p.Q383L|TTN_ENST00000342992.6_Missense_Mutation_p.Q383L			Q8WZ42	TITIN_HUMAN	titin	0					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.Q383L(6)		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)			CACTTGCTCCTGGACACCGTA	0.567																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	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.(1147-1149)CAG>CTG		titin isoform N2-A							142.0	126.0	131.0					2																	179659746		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659746T>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.1148A>T	2.37:g.179659746T>A	ENSP00000465570:p.Gln383Leu					TTN_uc010zfh.1_Missense_Mutation_p.Q383L|TTN_uc010zfi.1_Missense_Mutation_p.Q383L|TTN_uc010zfj.1_Missense_Mutation_p.Q383L|TTN_uc002unb.2_Missense_Mutation_p.Q383L|TTN_uc010frg.1_Missense_Mutation_p.Q57L	p.Q383L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		7	1372	-			383					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.1148A>T		.	.	.	.	.	.	.	.	.	.	T	15.06	2.720184	0.48728	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65916	-0.18;0.02;0.01;-0.0;0.15	5.96	4.82	0.62117	.	.	.	.	.	T	0.66356	0.2781	L	0.50333	1.59	0.32165	N	0.582455	P;P;P;P;P	0.52316	0.501;0.501;0.501;0.501;0.952	B;B;B;B;P	0.53360	0.115;0.115;0.115;0.115;0.724	T	0.73642	-0.3918	9	0.87932	D	0	.	10.4845	0.44713	0.0:0.0727:0.0:0.9273	.	383;383;383;383;383	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	383	ENSP00000343764:Q383L;ENSP00000434586:Q383L;ENSP00000340554:Q383L;ENSP00000352154:Q383L;ENSP00000354117:Q383L	ENSP00000340554:Q383L	Q	-	2	0	TTN	179367991	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	3.561000	0.53770	1.093000	0.41377	0.528000	0.53228	CAG		PASS	0.567	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	139	20	139	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179718259	179718259	+	Silent	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:179718259G>T	ENST00000420890.2	-	20	3270	c.3153C>A	c.(3151-3153)ctC>ctA	p.L1051L	CCDC141_ENST00000295723.5_Silent_p.L476L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1051								p.L476L(1)|p.L1051L(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACTGCTGGTGGAGAATTTTCA	0.423																																						uc002unf.1																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(1426-1428)CTC>CTA		coiled-coil domain containing 141							141.0	139.0	140.0					2																	179718259		2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179718259G>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3153C>A	2.37:g.179718259G>T							p.L476L	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		10	1485	-			476					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.1428C>A																																																																																					PASS	0.423	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		32	201	32	201	---	---	---	---
CERKL	375298	broad.mit.edu	37	2	182403949	182403949	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:182403949T>C	ENST00000339098.5	-	13	1485	c.1486A>G	c.(1486-1488)Aaa>Gaa	p.K496E	CERKL_ENST00000409440.3_Missense_Mutation_p.K452E|CERKL_ENST00000374970.2_Missense_Mutation_p.K401E|CERKL_ENST00000374969.2_Missense_Mutation_p.K357E|CERKL_ENST00000410087.3_Missense_Mutation_p.K470E			Q49MI3	CERKL_HUMAN	ceramide kinase-like	496					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.K470E(1)|p.K496E(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGATGAACTTTTACTTCCTCA	0.343																																						uc002unx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(1486-1488)AAA>GAA		ceramide kinase-like isoform b							99.0	97.0	98.0					2																	182403949		2203	4300	6503	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182403949T>C	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1486A>G	2.37:g.182403949T>C	ENSP00000341159:p.Lys496Glu					CERKL_uc002uny.2_Missense_Mutation_p.K470E|CERKL_uc010zfm.1_Missense_Mutation_p.K452E|CERKL_uc002unz.2_Missense_Mutation_p.K218E|CERKL_uc002uoa.2_Missense_Mutation_p.K401E|CERKL_uc002uob.2_Missense_Mutation_p.K218E|CERKL_uc002uoc.2_Missense_Mutation_p.K357E|CERKL_uc010frk.2_RNA|CERKL_uc002unw.2_Missense_Mutation_p.K66E	p.K496E	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		13	1587	-			496					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.1486A>G	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331322	0.81690	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.66	5.66	0.87406	.	0.148963	0.64402	D	0.000016	T	0.29850	0.0746	M	0.77820	2.39	0.41567	D	0.98866	P;D;P;P;P	0.53462	0.856;0.96;0.787;0.702;0.914	B;P;B;B;B	0.50708	0.26;0.648;0.322;0.42;0.424	T	0.05068	-1.0908	10	0.51188	T	0.08	.	16.1827	0.81921	0.0:0.0:0.0:1.0	.	452;357;401;470;496	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	E	470;452;357;496;401	ENSP00000386725:K470E;ENSP00000387080:K452E;ENSP00000364108:K357E;ENSP00000341159:K496E;ENSP00000364109:K401E	ENSP00000341159:K496E	K	-	1	0	CERKL	182112194	1.000000	0.71417	0.504000	0.27639	0.512000	0.34134	6.331000	0.72929	2.282000	0.76494	0.523000	0.50628	AAA		PASS	0.343	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			30	185	30	185	---	---	---	---
SSFA2	6744	broad.mit.edu	37	2	182763809	182763809	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:182763809G>T	ENST00000431877.2	+	6	652	c.473G>T	c.(472-474)gGa>gTa	p.G158V	SSFA2_ENST00000320370.7_Missense_Mutation_p.G158V|SSFA2_ENST00000409001.1_Missense_Mutation_p.G158V|SSFA2_ENST00000428267.2_Missense_Mutation_p.G5V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	158						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G158V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AATTCCACTGGATCTGGGAAA	0.328																																						uc002uoi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(472-474)GGA>GTA		sperm specific antigen 2 isoform 1							111.0	110.0	110.0					2																	182763809		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182763809G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.473G>T	2.37:g.182763809G>T	ENSP00000388731:p.Gly158Val					SSFA2_uc002uoh.2_Missense_Mutation_p.G158V|SSFA2_uc002uoj.2_Missense_Mutation_p.G158V|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.G5V|SSFA2_uc002uol.2_Missense_Mutation_p.G5V	p.G158V	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		6	795	+			158					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.473G>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099778	0.94197	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.16457	2.61;2.38;2.6;2.34	6.06	6.06	0.98353	.	0.349316	0.33650	N	0.004685	T	0.44767	0.1309	M	0.74881	2.28	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	T	0.03969	-1.0988	10	0.25106	T	0.35	-23.6322	20.6208	0.99490	0.0:0.0:1.0:0.0	.	5;158;158;158	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	V	158;158;158;5	ENSP00000388731:G158V;ENSP00000314669:G158V;ENSP00000387319:G158V;ENSP00000409867:G5V	ENSP00000314669:G158V	G	+	2	0	SSFA2	182472054	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.295000	0.96095	2.882000	0.98803	0.655000	0.94253	GGA		PASS	0.328	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		35	84	35	84	---	---	---	---
FAM171B	165215	broad.mit.edu	37	2	187627189	187627189	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:187627189C>G	ENST00000304698.5	+	8	2323	c.2120C>G	c.(2119-2121)tCt>tGt	p.S707C		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	707						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.S707C(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGTCTGGACTCTGGGGTGGAC	0.453																																						uc002ups.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(2119-2121)TCT>TGT		KIAA1946							59.0	62.0	61.0					2																	187627189		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187627189C>G	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2120C>G	2.37:g.187627189C>G	ENSP00000304108:p.Ser707Cys					FAM171B_uc002upr.1_Missense_Mutation_p.S674C|FAM171B_uc002upt.2_Missense_Mutation_p.S176C	p.S707C	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	2232	+			707			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.2120C>G	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126303	0.77549	.	.	ENSG00000144369	ENST00000304698	T	0.44881	0.91	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63761	-0.6564	10	0.87932	D	0	-16.9209	20.547	0.99278	0.0:1.0:0.0:0.0	.	707;708	Q6P995;A8K122	F171B_HUMAN;.	C	707	ENSP00000304108:S707C	ENSP00000304108:S707C	S	+	2	0	FAM171B	187335434	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.460000	0.80816	2.850000	0.98022	0.650000	0.86243	TCT		PASS	0.453	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		14	98	14	98	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189968994	189968994	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:189968994C>T	ENST00000374866.3	-	3	606	c.332G>A	c.(331-333)aGa>aAa	p.R111K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	111					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.R111K(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)			ACTTACCTTTCTTCCTCTACC	0.294																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(331-333)AGA>AAA		alpha 2 type V collagen preproprotein							75.0	82.0	80.0					2																	189968994		2202	4298	6500	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189968994C>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.332G>A	2.37:g.189968994C>T	ENSP00000364000:p.Arg111Lys						p.R111K	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		3	607	-			111					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.332G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648609	0.47258	.	.	ENSG00000204262	ENST00000374866	D	0.93366	-3.21	5.0	5.0	0.66597	.	1.298020	0.05479	N	0.554555	D	0.91375	0.7279	L	0.45051	1.395	0.37784	D	0.927105	B	0.33288	0.406	B	0.31245	0.126	T	0.79293	-0.1863	9	.	.	.	.	15.4226	0.75025	0.0:1.0:0.0:0.0	.	111	P05997	CO5A2_HUMAN	K	111	ENSP00000364000:R111K	.	R	-	2	0	COL5A2	189677239	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.698000	0.47068	2.478000	0.83669	0.558000	0.71614	AGA		PASS	0.294	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		11	223	11	223	---	---	---	---
ASNSD1	54529	broad.mit.edu	37	2	190531684	190531684	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:190531684G>A	ENST00000260952.4	+	4	1239	c.826G>A	c.(826-828)Gat>Aat	p.D276N	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	276					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.D276N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CTTTCTTACTGATGTACACAT	0.403																																						uc002uqt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(826-828)GAT>AAT		asparagine synthetase domain containing 1							138.0	137.0	137.0					2																	190531684		2203	4300	6503	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531684G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.826G>A	2.37:g.190531684G>A	ENSP00000260952:p.Asp276Asn						p.D276N	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1260	+			276					D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.826G>A	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	4.189	0.033760	0.08101	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.30448	1.53;1.53	5.41	3.64	0.41730	.	0.190230	0.56097	N	0.000028	T	0.27629	0.0679	L	0.57536	1.79	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.22661	-1.0210	10	0.13853	T	0.58	-30.7863	12.1683	0.54144	0.1373:0.0:0.8627:0.0	.	276	Q9NWL6	ASND1_HUMAN	N	276	ENSP00000260952:D276N;ENSP00000406790:D276N	ENSP00000260952:D276N	D	+	1	0	ASNSD1	190239929	0.998000	0.40836	0.025000	0.17156	0.057000	0.15508	2.968000	0.49224	0.875000	0.35847	-0.137000	0.14449	GAT		PASS	0.403	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		20	420	20	420	---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190719442	190719442	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:190719442G>A	ENST00000441310.2	+	9	1677	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	PMS1_ENST00000418224.3_Missense_Mutation_p.E306K|PMS1_ENST00000409823.3_Missense_Mutation_p.E443K|PMS1_ENST00000432292.3_Missense_Mutation_p.E306K|PMS1_ENST00000447232.2_Missense_Mutation_p.E482K|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	482					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.E482K(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGGGGAAAATGAGGAAGAAGC	0.388			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1444-1446)GAG>AAG	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							46.0	51.0	49.0					2																	190719442		2192	4296	6488	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190719442G>A		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1444G>A	2.37:g.190719442G>A	ENSP00000406490:p.Glu482Lys					PMS1_uc010zga.1_Missense_Mutation_p.E443K|PMS1_uc010zgb.1_Missense_Mutation_p.E421K|PMS1_uc002urk.3_Missense_Mutation_p.E443K|PMS1_uc002uri.3_Missense_Mutation_p.E482K|PMS1_uc010zgc.1_Missense_Mutation_p.E306K|PMS1_uc010zgd.1_Missense_Mutation_p.E306K|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.E443K|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.E267K|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.E150K	p.E482K	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		9	1973	+			482					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.1444G>A	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	G	7.389	0.630377	0.14322	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;D;D;D;D;D	0.96651	-2.34;-2.04;-2.51;-2.87;-2.04;-2.18;-4.08	4.62	1.82	0.25136	.	0.800942	0.11718	N	0.536219	D	0.92782	0.7705	L	0.47716	1.5	0.09310	N	1	B;B;B;B;B;B;B	0.18741	0.001;0.007;0.007;0.03;0.009;0.007;0.002	B;B;B;B;B;B;B	0.17433	0.003;0.006;0.004;0.018;0.004;0.01;0.003	T	0.80986	-0.1137	10	0.16420	T	0.52	-2.5658	9.8646	0.41136	0.2942:0.0:0.7058:0.0	.	482;443;443;267;443;482;482	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	K	306;482;306;443;482;306;421;267	ENSP00000406490:E482K;ENSP00000404492:E306K;ENSP00000387125:E443K;ENSP00000401064:E482K;ENSP00000398378:E306K;ENSP00000389938:E421K;ENSP00000387169:E267K	ENSP00000376149:E306K	E	+	1	0	PMS1	190427687	0.130000	0.22417	0.012000	0.15200	0.845000	0.48019	0.917000	0.28665	0.190000	0.20209	0.460000	0.39030	GAG		PASS	0.388	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			4	151	4	151	---	---	---	---
INPP1	3628	broad.mit.edu	37	2	191233948	191233948	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:191233948C>T	ENST00000322522.4	+	5	1042	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	INPP1_ENST00000392329.2_Missense_Mutation_p.P196S|INPP1_ENST00000541441.1_Missense_Mutation_p.P196S	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	196					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)	p.P196S(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			GACAGGGGTTCCCCTGATGGG	0.413																																					Melanoma(130;184 1743 2185 19805 38428)	uc002ury.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(586-588)CCC>TCC		inositol polyphosphate-1-phosphatase	Lithium(DB01356)						131.0	129.0	130.0					2																	191233948		2203	4300	6503	SO:0001583	missense	3628				signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	g.chr2:191233948C>T		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.586C>T	2.37:g.191233948C>T	ENSP00000325423:p.Pro196Ser					INPP1_uc010fsb.2_Missense_Mutation_p.P196S|INPP1_uc002urx.3_Missense_Mutation_p.P196S	p.P196S	NM_001128928	NP_001122400	P49441	INPP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		6	1286	+			196						Missense_Mutation	SNP	ENST00000322522.4	37	c.586C>T	CCDS2305.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714282	0.89112	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441;ENST00000431594;ENST00000423767	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81378	-0.0960	10	0.52906	T	0.07	-21.1023	17.5378	0.87837	0.0:1.0:0.0:0.0	.	196	P49441	INPP_HUMAN	S	196	ENSP00000376142:P196S;ENSP00000325423:P196S;ENSP00000440650:P196S;ENSP00000409786:P196S;ENSP00000395424:P196S	ENSP00000325423:P196S	P	+	1	0	INPP1	190942193	1.000000	0.71417	0.930000	0.37139	0.957000	0.61999	4.823000	0.62694	2.747000	0.94245	0.644000	0.83932	CCC		PASS	0.413	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2			52	281	52	281	---	---	---	---
SDPR	8436	broad.mit.edu	37	2	192700675	192700675	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:192700675C>A	ENST00000304141.4	-	2	1581	c.1252G>T	c.(1252-1254)Gtg>Ttg	p.V418L		NM_004657.5	NP_004648.1			serum deprivation response									p.V418L(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			ACCTGGAGCACGGCGGGCTGC	0.627																																						uc002utb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1252-1254)GTG>TTG		serum deprivation response protein	Phosphatidylserine(DB00144)						37.0	39.0	38.0					2																	192700675		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192700675C>A	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1252G>T	2.37:g.192700675C>A	ENSP00000305675:p.Val418Leu						p.V418L	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1582	-			418						Missense_Mutation	SNP	ENST00000304141.4	37	c.1252G>T	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576131	0.45902	.	.	ENSG00000168497	ENST00000304141	T	0.69175	-0.38	5.25	5.25	0.73442	.	0.000000	0.49305	D	0.000159	T	0.68604	0.3019	L	0.56769	1.78	0.33652	D	0.608635	D	0.54964	0.969	P	0.46076	0.503	T	0.79614	-0.1730	10	0.62326	D	0.03	-24.1628	17.2155	0.86943	0.0:1.0:0.0:0.0	.	418	O95810	SDPR_HUMAN	L	418	ENSP00000305675:V418L	ENSP00000305675:V418L	V	-	1	0	SDPR	192408920	0.955000	0.32602	0.749000	0.31150	0.020000	0.10135	2.819000	0.48049	2.744000	0.94065	0.563000	0.77884	GTG		PASS	0.627	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		59	75	59	75	---	---	---	---
BOLL	66037	broad.mit.edu	37	2	198646462	198646462	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:198646462C>G	ENST00000392296.4	-	2	422	c.113G>C	c.(112-114)gGa>gCa	p.G38A	BOLL_ENST00000433157.1_Missense_Mutation_p.G38A|BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000430004.1_Missense_Mutation_p.G38A|BOLL_ENST00000321801.7_Missense_Mutation_p.G50A	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	38	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.G38A(1)|p.G50A(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ATCAATTCCTCCTACAAAGAT	0.358																																						uc002uus.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(112-114)GGA>GCA		boule isoform 2							167.0	167.0	167.0					2																	198646462		2203	4300	6503	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198646462C>G		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.113G>C	2.37:g.198646462C>G	ENSP00000376116:p.Gly38Ala					BOLL_uc002uur.2_Missense_Mutation_p.G44A|BOLL_uc002uut.2_Missense_Mutation_p.G50A|BOLL_uc010zha.1_5'UTR|BOLL_uc002uuu.1_Missense_Mutation_p.G44A	p.G38A	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN			2	423	-			38			RRM.		B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.113G>C	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954246	0.73902	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	M	0.62209	1.925	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;1.0;0.999	D;D;D;D	0.87578	0.996;0.929;0.998;0.993	D	0.93773	0.7077	10	0.46703	T	0.11	-18.5331	16.569	0.84606	0.0:1.0:0.0:0.0	.	44;50;38;44	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	A	38;38;50;38	ENSP00000397711:G38A;ENSP00000376116:G38A;ENSP00000314792:G50A;ENSP00000396099:G38A	ENSP00000314792:G50A	G	-	2	0	BOLL	198354707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.226000	0.65299	2.642000	0.89623	0.561000	0.74099	GGA		PASS	0.358	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		41	300	41	300	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200193475	200193475	+	Silent	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:200193475A>G	ENST00000417098.1	-	8	2148	c.1332T>C	c.(1330-1332)aaT>aaC	p.N444N	RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000260926.5_Silent_p.N444N|SATB2_ENST00000443023.1_Silent_p.N385N|SATB2_ENST00000457245.1_Silent_p.N444N|SATB2_ENST00000428695.1_Silent_p.N326N	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	444					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.N444N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCATGCTCACATTGGGATTCA	0.517																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1330-1332)AAT>AAC		SATB homeobox 2							147.0	128.0	135.0					2																	200193475		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200193475A>G	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1332T>C	2.37:g.200193475A>G						SATB2_uc010fsq.1_Silent_p.N326N|SATB2_uc002uuz.1_Silent_p.N444N|SATB2_uc002uva.1_Silent_p.N444N	p.N444N	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			8	2149	-			444					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1332T>C	CCDS2327.1																																																																																				PASS	0.517	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		27	164	27	164	---	---	---	---
MPP4	58538	broad.mit.edu	37	2	202545689	202545689	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:202545689T>C	ENST00000409474.3	-	10	1008	c.801A>G	c.(799-801)ggA>ggG	p.G267G	MPP4_ENST00000428900.2_Silent_p.G267G|MPP4_ENST00000447335.2_Silent_p.G267G|MPP4_ENST00000359962.5_Silent_p.G267G|MPP4_ENST00000315506.7_Silent_p.G254G|MPP4_ENST00000396886.3_Silent_p.G223G|MPP4_ENST00000409143.1_Silent_p.G240G	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	267	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.G267G(2)		kidney(1)|lung(11)	12						GGAAAGGCAATCCAGCGTCCA	0.577											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002uyk.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(799-801)GGA>GGG		membrane protein, palmitoylated 4							65.0	67.0	66.0					2																	202545689		2022	4168	6190	SO:0001819	synonymous_variant	58538					cytoplasm	protein binding	g.chr2:202545689T>C	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.801A>G	2.37:g.202545689T>C			OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2130	MPP4_uc010ftj.2_Silent_p.G267G|MPP4_uc010zhq.1_Silent_p.G267G|MPP4_uc010zhr.1_Silent_p.G267G|MPP4_uc010zhs.1_Silent_p.G223G|MPP4_uc002uyj.3_Silent_p.G223G|MPP4_uc010zht.1_Silent_p.G240G|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Silent_p.G254G|MPP4_uc002uym.1_Silent_p.G236G|MPP4_uc002uyn.2_Silent_p.G223G	p.G267G	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			10	1009	-			267			SH3.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Silent	SNP	ENST00000409474.3	37	c.801A>G	CCDS46491.1																																																																																				PASS	0.577	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			10	78	10	78	---	---	---	---
CD28	940	broad.mit.edu	37	2	204599596	204599596	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:204599596C>T	ENST00000324106.8	+	4	773	c.624C>T	c.(622-624)ccC>ccT	p.P208P	CD28_ENST00000458610.2_Silent_p.P222P|CD28_ENST00000374478.4_Silent_p.P89P|CD28_ENST00000374481.3_Silent_p.P124P	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	208					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)	p.P208P(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						ATTACCAGCCCTATGCCCCAC	0.622																																						uc002vah.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(622-624)CCC>CCT		CD28 antigen precursor							66.0	71.0	69.0					2																	204599596		2203	4300	6503	SO:0001819	synonymous_variant	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204599596C>T	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.624C>T	2.37:g.204599596C>T						CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Silent_p.P89P|CD28_uc002vaj.3_RNA	p.P208P	NM_006139	NP_006130	P10747	CD28_HUMAN			4	846	+			208			Cytoplasmic (Potential).		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Silent	SNP	ENST00000324106.8	37	c.624C>T	CCDS2361.1																																																																																				PASS	0.622	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		5	149	5	149	---	---	---	---
CPO	130749	broad.mit.edu	37	2	207814364	207814364	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:207814364A>T	ENST00000272852.3	+	2	138	c.92A>T	c.(91-93)gAg>gTg	p.E31V		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	31						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E31V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CACAGACAAGAGATTGTGGAC	0.483																																						uc002vby.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(91-93)GAG>GTG		carboxypeptidase O precursor							134.0	118.0	123.0					2																	207814364		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207814364A>T		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.92A>T	2.37:g.207814364A>T	ENSP00000272852:p.Glu31Val						p.E31V	NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	2	138	+			31					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.92A>T	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.777166	0.49786	.	.	ENSG00000144410	ENST00000272852	T	0.15718	2.4	4.32	3.18	0.36537	.	1.518790	0.03833	N	0.269399	T	0.12944	0.0314	L	0.27053	0.805	0.09310	N	1	P	0.41041	0.736	B	0.36289	0.221	T	0.14008	-1.0488	10	0.30078	T	0.28	.	7.7654	0.28976	0.8966:0.0:0.1034:0.0	.	31	Q8IVL8	CBPO_HUMAN	V	31	ENSP00000272852:E31V	ENSP00000272852:E31V	E	+	2	0	CPO	207522609	0.002000	0.14202	0.009000	0.14445	0.715000	0.41141	1.287000	0.33284	1.946000	0.56461	0.374000	0.22700	GAG		PASS	0.483	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		33	123	33	123	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209201606	209201606	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:209201606C>G	ENST00000264380.4	+	28	4723	c.4565C>G	c.(4564-4566)tCa>tGa	p.S1522*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1522					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.S1522*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAGAGACCTTCAGTTCCTCCA	0.388																																						uc002vcz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(4564-4566)TCA>TGA		phosphatidylinositol-3-phosphate 5-kinase type							72.0	76.0	75.0					2																	209201606		2203	4300	6503	SO:0001587	stop_gained	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209201606C>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4565C>G	2.37:g.209201606C>G	ENSP00000264380:p.Ser1522*						p.S1522*	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			28	4723	+			1522					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Nonsense_Mutation	SNP	ENST00000264380.4	37	c.4565C>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	44	11.162842	0.99525	.	.	ENSG00000115020	ENST00000264380	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-11.029	19.3681	0.94473	0.0:1.0:0.0:0.0	.	.	.	.	X	1522	.	ENSP00000264380:S1522X	S	+	2	0	PIKFYVE	208909851	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.982000	0.76173	2.677000	0.91161	0.655000	0.94253	TCA		PASS	0.388	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		18	94	18	94	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211502431	211502431	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:211502431C>G	ENST00000233072.5	+	22	2889	c.2693C>G	c.(2692-2694)tCc>tGc	p.S898C	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.S447C|CPS1_ENST00000430249.2_Missense_Mutation_p.S904C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	898					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.S898C(1)|p.S904C(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCTAGTGAGTCCATGACAGAA	0.413																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2692-2694)TCC>TGC		carbamoyl-phosphate synthetase 1 isoform b							63.0	72.0	69.0					2																	211502431		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211502431C>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2693C>G	2.37:g.211502431C>G	ENSP00000233072:p.Ser898Cys					CPS1_uc010fur.2_Missense_Mutation_p.S904C|CPS1_uc010fus.2_Missense_Mutation_p.S447C	p.S898C	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	22	2825	+			898					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2693C>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742877	0.49151	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96745	-4.11;-4.11;-4.11	5.47	5.47	0.80525	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.242658	0.42548	D	0.000685	D	0.97757	0.9264	M	0.83852	2.665	0.38890	D	0.957094	D;D	0.65815	0.995;0.995	P;P	0.59948	0.866;0.866	D	0.98985	1.0806	10	0.62326	D	0.03	0.3889	16.0273	0.80551	0.1348:0.8652:0.0:0.0	.	908;898	Q59HF8;P31327	.;CPSM_HUMAN	C	904;906;898;447	ENSP00000402608:S904C;ENSP00000233072:S898C;ENSP00000406136:S447C	ENSP00000233072:S898C	S	+	2	0	CPS1	211210676	0.425000	0.25498	0.962000	0.40283	0.143000	0.21401	4.098000	0.57748	2.708000	0.92522	0.650000	0.86243	TCC		PASS	0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			30	128	30	128	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212566791	212566791	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:212566791T>C	ENST00000342788.4	-	12	1700	c.1390A>G	c.(1390-1392)Agc>Ggc	p.S464G	ERBB4_ENST00000436443.1_Missense_Mutation_p.S464G|ERBB4_ENST00000402597.1_Missense_Mutation_p.S464G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	464					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S464G(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CACAGGTTGCTGTTGTCAGTA	0.433										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1390-1392)AGC>GGC		v-erb-a erythroblastic leukemia viral oncogene							195.0	176.0	182.0					2																	212566791		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212566791T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1390A>G	2.37:g.212566791T>C	ENSP00000342235:p.Ser464Gly	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.S464G|ERBB4_uc010zji.1_Missense_Mutation_p.S464G|ERBB4_uc010zjj.1_Missense_Mutation_p.S464G|ERBB4_uc010fut.1_Missense_Mutation_p.S464G	p.S464G	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	12	1488	-		Renal(323;0.06)|Lung NSC(271;0.197)	464			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1390A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370447	0.42003	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.45276	0.9;0.9;0.9	5.71	5.71	0.89125	EGF receptor, L domain (1);	0.198940	0.64402	D	0.000007	T	0.43366	0.1244	M	0.74881	2.28	0.45899	D	0.998746	B;B;B;P;P	0.36392	0.356;0.423;0.059;0.496;0.551	B;B;B;B;B	0.35470	0.082;0.068;0.058;0.129;0.203	T	0.40156	-0.9578	10	0.34782	T	0.22	.	11.9294	0.52837	0.0:0.0:0.145:0.855	.	464;464;323;464;464	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	G	464	ENSP00000342235:S464G;ENSP00000403204:S464G;ENSP00000385565:S464G	ENSP00000342235:S464G	S	-	1	0	ERBB4	212275036	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.098000	0.57748	2.191000	0.70037	0.528000	0.53228	AGC		PASS	0.433	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		62	254	62	254	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216285490	216285490	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:216285490C>G	ENST00000359671.1	-	11	1846	c.1581G>C	c.(1579-1581)gtG>gtC	p.V527V	FN1_ENST00000336916.4_Silent_p.V527V|FN1_ENST00000323926.6_Silent_p.V527V|FN1_ENST00000432072.2_Silent_p.V527V|FN1_ENST00000346544.3_Silent_p.V527V|FN1_ENST00000421182.1_Silent_p.V527V|FN1_ENST00000446046.1_Silent_p.V527V|FN1_ENST00000426059.1_Silent_p.V527V|FN1_ENST00000345488.5_Silent_p.V527V|FN1_ENST00000357009.2_Silent_p.V527V|FN1_ENST00000357867.4_Silent_p.V527V|FN1_ENST00000354785.4_Silent_p.V527V|FN1_ENST00000356005.4_Silent_p.V527V|FN1_ENST00000443816.1_Silent_p.V527V			P02751	FINC_HUMAN	fibronectin 1	527	Collagen-binding.|Fibronectin type-I 8. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.V527V(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATGTGTCGTTCACATTGTAAG	0.458																																						uc002vfa.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(1579-1581)GTG>GTC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						177.0	139.0	152.0					2																	216285490		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216285490C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1581G>C	2.37:g.216285490C>G						FN1_uc002vfb.2_Silent_p.V527V|FN1_uc002vfc.2_Silent_p.V527V|FN1_uc002vfd.2_Silent_p.V527V|FN1_uc002vfe.2_Silent_p.V527V|FN1_uc002vff.2_Silent_p.V527V|FN1_uc002vfg.2_Silent_p.V527V|FN1_uc002vfh.2_Silent_p.V527V|FN1_uc002vfi.2_Silent_p.V527V|FN1_uc002vfj.2_Silent_p.V527V|FN1_uc002vfl.2_Silent_p.V527V	p.V527V	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	11	1847	-		Renal(323;0.127)	527			Collagen-binding.|Fibronectin type-I 8.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.1581G>C																																																																																					PASS	0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		18	113	18	113	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216289013	216289013	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:216289013C>G	ENST00000359671.1	-	8	1337	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	FN1_ENST00000336916.4_Missense_Mutation_p.E358Q|FN1_ENST00000323926.6_Missense_Mutation_p.E358Q|FN1_ENST00000432072.2_Missense_Mutation_p.E358Q|FN1_ENST00000346544.3_Missense_Mutation_p.E358Q|FN1_ENST00000421182.1_Missense_Mutation_p.E358Q|FN1_ENST00000446046.1_Missense_Mutation_p.E358Q|FN1_ENST00000426059.1_Missense_Mutation_p.E358Q|FN1_ENST00000345488.5_Missense_Mutation_p.E358Q|FN1_ENST00000357009.2_Missense_Mutation_p.E358Q|FN1_ENST00000357867.4_Missense_Mutation_p.E358Q|FN1_ENST00000354785.4_Missense_Mutation_p.E358Q|FN1_ENST00000356005.4_Missense_Mutation_p.E358Q|FN1_ENST00000443816.1_Missense_Mutation_p.E358Q			P02751	FINC_HUMAN	fibronectin 1	358	Collagen-binding.|Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.E358Q(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ACACATGGCTCTCCATTTGAG	0.478																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(1072-1074)GAG>CAG		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						160.0	138.0	145.0					2																	216289013		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216289013C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1072G>C	2.37:g.216289013C>G	ENSP00000352696:p.Glu358Gln					FN1_uc002vfb.2_Missense_Mutation_p.E358Q|FN1_uc002vfc.2_Missense_Mutation_p.E358Q|FN1_uc002vfd.2_Missense_Mutation_p.E358Q|FN1_uc002vfe.2_Missense_Mutation_p.E358Q|FN1_uc002vff.2_Missense_Mutation_p.E358Q|FN1_uc002vfg.2_Missense_Mutation_p.E358Q|FN1_uc002vfh.2_Missense_Mutation_p.E358Q|FN1_uc002vfi.2_Missense_Mutation_p.E358Q|FN1_uc002vfj.2_Missense_Mutation_p.E358Q|FN1_uc002vfl.2_Missense_Mutation_p.E358Q	p.E358Q	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1338	-		Renal(323;0.127)	358			Fibronectin type-II 1.|Collagen-binding.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1072G>C		.	.	.	.	.	.	.	.	.	.	C	18.60	3.659743	0.67586	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.97	5.97	0.96955	.	0.165132	0.41396	D	0.000895	T	0.81786	0.4896	N	0.16266	0.395	0.58432	D	0.999999	B;P;B;P;B;B;B;P;B;B;B	0.51351	0.001;0.806;0.035;0.944;0.001;0.001;0.029;0.788;0.001;0.001;0.198	B;B;B;P;B;B;B;B;B;B;B	0.44359	0.002;0.242;0.048;0.447;0.001;0.001;0.014;0.171;0.001;0.001;0.133	T	0.80165	-0.1496	10	0.27082	T	0.32	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	358;358;358;358;358;358;358;358;358;358;358	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	Q	358	ENSP00000394423:E358Q;ENSP00000323534:E358Q;ENSP00000338200:E358Q;ENSP00000350534:E358Q;ENSP00000346839:E358Q;ENSP00000352696:E358Q;ENSP00000265312:E358Q;ENSP00000273049:E358Q;ENSP00000349509:E358Q;ENSP00000410422:E358Q;ENSP00000415018:E358Q;ENSP00000399538:E358Q;ENSP00000348285:E358Q;ENSP00000398907:E358Q	ENSP00000265313:E358Q	E	-	1	0	FN1	215997258	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.839000	0.62810	2.836000	0.97738	0.655000	0.94253	GAG		PASS	0.478	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		32	158	32	158	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219870931	219870931	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:219870931G>C	ENST00000341552.5	-	31	4817	c.4734C>G	c.(4732-4734)atC>atG	p.I1578M	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.I1578M|CCDC108_ENST00000453220.1_Missense_Mutation_p.I1578M	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1578						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.I1578M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGTTCTTGATGGGAGGCA	0.607																																						uc002vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(4732-4734)ATC>ATG		coiled-coil domain containing 108 isoform 1							55.0	62.0	60.0					2																	219870931		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219870931G>C	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4734C>G	2.37:g.219870931G>C	ENSP00000340776:p.Ile1578Met						p.I1578M	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	31	4818	-		Renal(207;0.0915)	1578					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.4734C>G	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055486	0.36277	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.14766	2.48;2.48;2.48	5.29	4.38	0.52667	.	0.000000	0.45606	D	0.000353	T	0.32496	0.0831	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03875	-1.0996	10	0.87932	D	0	-33.052	6.9174	0.24367	0.0891:0.0:0.7366:0.1744	.	1578	Q6ZU64	CC108_HUMAN	M	1578	ENSP00000340776:I1578M;ENSP00000413377:I1578M;ENSP00000409117:I1578M	ENSP00000340776:I1578M	I	-	3	3	CCDC108	219579175	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	1.547000	0.36190	2.466000	0.83321	0.655000	0.94253	ATC		PASS	0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		4	118	4	118	---	---	---	---
STK16	8576	broad.mit.edu	37	2	220111441	220111441	+	Missense_Mutation	SNP	G	G	A	rs548466076		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:220111441G>A	ENST00000409638.3	+	3	321	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000409516.3_Intron|STK16_ENST00000409743.1_Missense_Mutation_p.R50Q|STK16_ENST00000396738.2_Missense_Mutation_p.R50Q|STK16_ENST00000409260.1_Missense_Mutation_p.R95Q|STK16_ENST00000486813.1_Intron|GLB1L_ENST00000295759.7_5'Flank|GLB1L_ENST00000392089.2_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R50Q(2)		skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCTGAAGCGAATCCTGTGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		21443	0.001		0.0	False		,,,				2504	0.0				Pancreas(34;887 922 17165 36961 39622)	uc002vko.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(148-150)CGA>CAA		serine/threonine kinase 16							70.0	73.0	72.0					2																	220111441		2064	4205	6269	SO:0001583	missense	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220111441G>A	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.149G>A	2.37:g.220111441G>A	ENSP00000386928:p.Arg50Gln					GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.1_Missense_Mutation_p.R50Q|STK16_uc010fwf.2_Missense_Mutation_p.R50Q|STK16_uc002vkp.2_Missense_Mutation_p.R50Q|STK16_uc002vkr.2_5'UTR|STK16_uc002vkq.2_Missense_Mutation_p.R95Q	p.R50Q	NM_001008910	NP_001008910	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	306	+		Renal(207;0.0474)	50			Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	c.149G>A	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477716	0.96291	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409260;ENST00000409743	T;T;T;T	0.74106	2.05;2.05;-0.81;2.05	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85336	0.5673	L	0.58669	1.825	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;0.998;0.989;1.0	D	0.85246	0.1041	10	0.72032	D	0.01	-8.8762	20.3052	0.98627	0.0:0.0:1.0:0.0	.	50;50;95;50	B4DXY6;B8ZZI5;B8ZZN3;O75716	.;.;.;STK16_HUMAN	Q	50;50;95;50	ENSP00000386928:R50Q;ENSP00000379964:R50Q;ENSP00000387156:R95Q;ENSP00000386553:R50Q	ENSP00000379964:R50Q	R	+	2	0	STK16	219819685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.552000	0.82192	2.808000	0.96608	0.655000	0.94253	CGA		PASS	0.567	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			10	63	10	63	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225339017	225339017	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:225339017C>G	ENST00000264414.4	-	16	2590	c.2252G>C	c.(2251-2253)aGa>aCa	p.R751T	CUL3_ENST00000409777.1_Missense_Mutation_p.R727T|CUL3_ENST00000409096.1_Missense_Mutation_p.R727T|CUL3_ENST00000344951.4_Missense_Mutation_p.R685T	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	751					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.R751T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CAAATATTCTCTCTCAATAAG	0.363																																						uc002vny.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(2251-2253)AGA>ACA		cullin 3							149.0	138.0	142.0					2																	225339017		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225339017C>G	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2252G>C	2.37:g.225339017C>G	ENSP00000264414:p.Arg751Thr					CUL3_uc010zls.1_Missense_Mutation_p.R685T|CUL3_uc010fwy.1_Missense_Mutation_p.R757T	p.R751T	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	16	2636	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	751					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.2252G>C	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.27|17.27	3.346211|3.346211	0.61073|0.61073	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000451538|ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T|T;T;T;T	0.49139|0.74947	0.79|-0.58;-0.33;-0.89;-0.89	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90707|0.90707	0.7084|0.7084	H|H	0.95294|0.95294	3.65|3.65	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.71870	.|0.957;0.975;0.975	D|D	0.92981|0.92981	0.6406|0.6406	7|10	0.49607|0.87932	T|D	0.09|0	.|.	19.7145|19.7145	0.96110|0.96110	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|685;729;751	.|Q13618-3;Q53S54;Q13618	.|.;.;CUL3_HUMAN	D|T	93|751;685;727;727	ENSP00000410575:E93D|ENSP00000264414:R751T;ENSP00000343601:R685T;ENSP00000387200:R727T;ENSP00000386525:R727T	ENSP00000410575:E93D|ENSP00000264414:R751T	E|R	-|-	3|2	2|0	CUL3|CUL3	225047261|225047261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.665000|4.665000	0.61547|0.61547	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.363	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			9	145	9	145	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226446958	226446958	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:226446958C>T	ENST00000272907.6	+	4	1238	c.825C>T	c.(823-825)atC>atT	p.I275I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	275					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.I275I(1)									AGTACCCTATCTTTGACGACT	0.542																																						uc002voe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(823-825)ATC>ATT		hypothetical protein LOC57624							113.0	120.0	118.0					2																	226446958		2093	4208	6301	SO:0001819	synonymous_variant	57624							g.chr2:226446958C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.825C>T	2.37:g.226446958C>T						KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.I45I	p.I275I	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1000	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	275					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.825C>T	CCDS46529.1																																																																																				PASS	0.542	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		43	106	43	106	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228882974	228882974	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:228882974T>A	ENST00000392056.3	-	7	2642	c.2596A>T	c.(2596-2598)Agc>Tgc	p.S866C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S866C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	866						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S866C(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGACTGGCTGACCGTTGGG	0.483																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(2596-2598)AGC>TGC		sphingosine kinase type 1-interacting protein							601.0	572.0	582.0					2																	228882974		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882974T>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2596A>T	2.37:g.228882974T>A	ENSP00000375909:p.Ser866Cys					SPHKAP_uc002vpp.2_Missense_Mutation_p.S866C|SPHKAP_uc010zlx.1_Missense_Mutation_p.S866C	p.S866C	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2643	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	866					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2596A>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241825	0.22796	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12984	2.63;2.63	5.63	-11.3	0.00108	.	1.818140	0.02167	N	0.059360	T	0.20455	0.0492	L	0.40543	1.245	0.09310	N	1	P;D	0.63880	0.923;0.993	B;P	0.55615	0.436;0.78	T	0.57590	-0.7785	10	0.56958	D	0.05	.	15.3844	0.74684	0.0:0.1548:0.0774:0.7678	.	866;866	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	C	866	ENSP00000375909:S866C;ENSP00000339886:S866C	ENSP00000339886:S866C	S	-	1	0	SPHKAP	228591218	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.433000	0.06948	-2.808000	0.00349	-2.035000	0.00420	AGC		PASS	0.483	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		154	771	154	771	---	---	---	---
NCL	4691	broad.mit.edu	37	2	232322396	232322396	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:232322396G>C	ENST00000322723.4	-	9	1645	c.1405C>G	c.(1405-1407)Caa>Gaa	p.Q469E	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA|SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	469					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.Q469E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TCTTGATTTTGACCTTTCTCT	0.413																																						uc002vru.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1405-1407)CAA>GAA		nucleolin							164.0	157.0	159.0					2																	232322396		2202	4300	6502	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232322396G>C		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1405C>G	2.37:g.232322396G>C	ENSP00000318195:p.Gln469Glu					SNORA75_uc002vrv.1_5'Flank|SNORD20_uc002vrw.1_5'Flank	p.Q469E	NM_005381	NP_005372	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	9	1546	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	469					Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.1405C>G	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560438	0.86335	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	D;T	0.82893	-1.66;-0.73	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);	0.050719	0.85682	D	0.000000	D	0.86368	0.5916	L	0.49126	1.545	0.54753	D	0.999986	D	0.58620	0.983	P	0.55455	0.776	D	0.85962	0.1471	10	0.48119	T	0.1	-19.2479	17.1723	0.86833	0.0:0.0:1.0:0.0	.	469	P19338	NUCL_HUMAN	E	469;361;241;70	ENSP00000318195:Q469E;ENSP00000349410:Q70E	ENSP00000318195:Q469E	Q	-	1	0	NCL	232030640	1.000000	0.71417	0.725000	0.30721	0.990000	0.78478	8.920000	0.92779	2.736000	0.93811	0.558000	0.71614	CAA		PASS	0.413	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		25	245	25	245	---	---	---	---
CHRND	1144	broad.mit.edu	37	2	233393325	233393325	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:233393325C>G	ENST00000258385.3	+	5	500	c.468C>G	c.(466-468)acC>acG	p.T156T	CHRND_ENST00000536614.1_Silent_p.T156T|CHRND_ENST00000543200.1_Silent_p.T141T|CHRND_ENST00000457943.2_Missense_Mutation_p.P66R	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	156					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.T156T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TCTCTGTCACCTATTTCCCCT	0.577																																						uc002vsw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(466-468)ACC>ACG		nicotinic acetylcholine receptor delta							168.0	148.0	155.0					2																	233393325		2203	4300	6503	SO:0001819	synonymous_variant	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233393325C>G	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.468C>G	2.37:g.233393325C>G						CHRND_uc010zmg.1_Silent_p.T141T|CHRND_uc010fyc.2_Missense_Mutation_p.P66R|CHRND_uc010zmh.1_Missense_Mutation_p.P66R	p.T156T	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	5	472	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	156			Extracellular (Potential).		A8K661|B4DT92|Q52LH4	Silent	SNP	ENST00000258385.3	37	c.468C>G	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620469	0.46736	.	.	ENSG00000135902	ENST00000457943	D	0.86030	-2.06	4.29	3.41	0.39046	.	.	.	.	.	T	0.79046	0.4380	.	.	.	0.28985	N	0.888416	B	0.31730	0.337	B	0.28638	0.092	T	0.73379	-0.4001	8	0.52906	T	0.07	.	12.508	0.55991	0.0:0.9185:0.0:0.0815	.	66	B4E3W4	.	R	66	ENSP00000391055:P66R	ENSP00000391055:P66R	P	+	2	0	CHRND	233101569	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	0.562000	0.23531	1.178000	0.42870	0.561000	0.74099	CCT		PASS	0.577	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			43	110	43	110	---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	239990202	239990202	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:239990202T>C	ENST00000345617.3	-	23	3628	c.2837A>G	c.(2836-2838)tAc>tGc	p.Y946C	AC017028.6_ENST00000577291.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.5_ENST00000582834.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.10_ENST00000579161.1_RNA|AC017028.9_ENST00000581111.1_RNA|AC017028.3_ENST00000584260.1_RNA|HDAC4_ENST00000543185.1_Missense_Mutation_p.Y530C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	946	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Y946C(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGAGGTTGTAGCCCCCAAG	0.597																																						uc002vyk.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(2836-2838)TAC>TGC		histone deacetylase 4							63.0	62.0	63.0					2																	239990202		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239990202T>C	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2837A>G	2.37:g.239990202T>C	ENSP00000264606:p.Tyr946Cys					HDAC4_uc010fyy.2_Missense_Mutation_p.Y903C	p.Y946C	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	23	3629	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	946			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.2837A>G	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502558	0.64298	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.69561	-0.41;-0.41	3.94	3.94	0.45596	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	N	0.21142	0.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68454	-0.5404	10	0.33940	T	0.23	.	13.4994	0.61445	0.0:0.0:0.0:1.0	.	914;946	Q53SM2;P56524	.;HDAC4_HUMAN	C	946;834;530	ENSP00000264606:Y946C;ENSP00000440481:Y530C	ENSP00000264606:Y946C	Y	-	2	0	HDAC4	239655139	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.575000	0.82447	1.725000	0.51514	0.260000	0.18958	TAC		PASS	0.597	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		8	64	8	64	---	---	---	---
RNPEPL1	57140	broad.mit.edu	37	2	241516041	241516041	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:241516041G>C	ENST00000270357.4	+	9	1500	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	303					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E303Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCGGCCCGTGGAGGCCCTTTT	0.652																																						uc002vzi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(907-909)GAG>CAG		arginyl aminopeptidase (aminopeptidase B)-like							35.0	39.0	37.0					2																	241516041		2203	4293	6496	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241516041G>C			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.907G>C	2.37:g.241516041G>C	ENSP00000270357:p.Glu303Gln					RNPEPL1_uc010fzf.2_Missense_Mutation_p.E209Q|RNPEPL1_uc002vzj.2_5'UTR	p.E303Q	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	9	1500	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	303					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.907G>C		.	.	.	.	.	.	.	.	.	.	G	7.401	0.632769	0.14322	.	.	ENSG00000142327	ENST00000451363;ENST00000270357;ENST00000437406	T;T	0.44083	0.93;0.93	4.36	4.36	0.52297	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.123337	0.53938	D	0.000044	T	0.35799	0.0944	L	0.41236	1.265	0.37458	D	0.915113	P;B	0.36909	0.573;0.064	B;B	0.37833	0.23;0.259	T	0.35301	-0.9794	10	0.28530	T	0.3	-25.1541	14.3682	0.66820	0.0:0.0:1.0:0.0	.	209;303	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	Q	81;303;56	ENSP00000270357:E303Q;ENSP00000403319:E56Q	ENSP00000270357:E303Q	E	+	1	0	RNPEPL1	241164714	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	4.367000	0.59498	1.979000	0.57680	0.491000	0.48974	GAG		PASS	0.652	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		3	102	3	102	---	---	---	---
SNED1	25992	broad.mit.edu	37	2	241976764	241976764	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:241976764G>C	ENST00000310397.8	+	6	1039	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	SNED1_ENST00000342631.6_Missense_Mutation_p.E347Q|SNED1_ENST00000405547.3_Missense_Mutation_p.E347Q|SNED1_ENST00000401884.1_Missense_Mutation_p.E347Q|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	347	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E347Q(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ACCCACCTGTGAGACAGGTAA	0.637																																						uc002wah.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1039-1041)GAG>CAG		6720455I24Rik homolog precursor							27.0	29.0	29.0					2																	241976764		1954	4127	6081	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:241976764G>C	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1039G>C	2.37:g.241976764G>C	ENSP00000308893:p.Glu347Gln						p.E347Q	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	6	1039	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	347			EGF-like 2.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.1039G>C	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.055160|5.055160	0.93793|0.93793	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631|ENST00000401644	D;D;D;D|.	0.91686|.	-2.89;-2.89;-2.89;-2.89|.	4.72|4.72	4.72|4.72	0.59763|0.59763	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.106892|.	0.40554|.	N|.	0.001072|.	T|.	0.58221|.	0.2107|.	L|L	0.33792|0.33792	1.035|1.035	0.43824|0.43824	D|D	0.996397|0.996397	D|.	0.71674|.	0.998|.	D|.	0.63381|.	0.914|.	T|.	0.55173|.	-0.8182|.	10|.	0.45353|.	T|.	0.12|.	.|.	17.6872|17.6872	0.88259|0.88259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	347|.	Q8TER0|.	SNED1_HUMAN|.	Q|S	347|43	ENSP00000384871:E347Q;ENSP00000386007:E347Q;ENSP00000308893:E347Q;ENSP00000342992:E347Q|.	ENSP00000308893:E347Q|.	E|X	+|+	1|2	0|2	SNED1|SNED1	241625437|241625437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	5.527000|5.527000	0.67123|0.67123	2.154000|2.154000	0.67381|0.67381	0.563000|0.563000	0.77884|0.77884	GAG|TGA		PASS	0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		5	16	5	16	---	---	---	---
RTP5	285093	broad.mit.edu	37	2	242814881	242814881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr2:242814881G>T	ENST00000343216.3	+	2	1202	c.1174G>T	c.(1174-1176)Gga>Tga	p.G392*		NM_173821.2	NP_776182.2												p.G392*(1)									CGGGAAGGAAGGAGGCGGCCA	0.627																																						uc010fzu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1174-1176)GGA>TGA		hypothetical protein LOC285093							31.0	35.0	33.0					2																	242814881		1999	4160	6159	SO:0001587	stop_gained	285093					integral to membrane		g.chr2:242814881G>T																												ENST00000343216.3:c.1174G>T	2.37:g.242814881G>T	ENSP00000345374:p.Gly392*						p.G392*	NM_173821	NP_776182	Q14D33	CB085_HUMAN			2	1197	+			392						Nonsense_Mutation	SNP	ENST00000343216.3	37	c.1174G>T	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	16.25	3.071150	0.55646	.	.	ENSG00000188011	ENST00000343216	.	.	.	2.33	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.6722	4.9128	0.13831	0.1823:0.0:0.8177:0.0	.	.	.	.	X	392	.	ENSP00000345374:G392X	G	+	1	0	C2orf85	242463554	.	.	0.001000	0.08648	0.020000	0.10135	.	.	0.546000	0.28920	0.456000	0.33151	GGA		PASS	0.627	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			6	42	6	42	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	407692	407692	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:407692G>C	ENST00000256509.2	+	15	2287	c.1645G>C	c.(1645-1647)Gaa>Caa	p.E549Q	CHL1_ENST00000397491.2_Missense_Mutation_p.E533Q|CHL1-AS1_ENST00000417612.1_RNA|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.E549Q(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCATATGCTTGAATTACATTG	0.353																																						uc003bou.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(1597-1599)GAA>CAA		cell adhesion molecule with homology to L1CAM							105.0	100.0	102.0					3																	407692		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:407692G>C	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1645G>C	3.37:g.407692G>C	ENSP00000256509:p.Glu549Gln					CHL1_uc003bot.2_Missense_Mutation_p.E549Q|CHL1_uc003bow.1_Missense_Mutation_p.E533Q|CHL1_uc011asi.1_Missense_Mutation_p.E549Q|uc003box.1_Intron	p.E533Q	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	14	1868	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	533			Ig-like C2-type 6.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1597G>C	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	3.013	-0.203559	0.06180	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.12672	2.66;2.66	5.18	5.18	0.71444	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.325585	0.30159	N	0.010274	T	0.10766	0.0263	L	0.41236	1.265	0.09310	N	1	B;B;B	0.17465	0.022;0.01;0.002	B;B;B	0.24155	0.051;0.023;0.011	T	0.36578	-0.9742	10	0.05525	T	0.97	.	11.8057	0.52155	0.0:0.0:0.78:0.22	.	533;533;549	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	Q	549;533	ENSP00000256509:E549Q;ENSP00000380628:E533Q	ENSP00000256509:E549Q	E	+	1	0	CHL1	382692	0.912000	0.30974	0.021000	0.16686	0.024000	0.10985	3.425000	0.52771	2.562000	0.86427	0.563000	0.77884	GAA		PASS	0.353	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		18	134	18	134	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	3084769	3084769	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:3084769C>T	ENST00000397461.1	+	21	3004	c.2620C>T	c.(2620-2622)Cac>Tac	p.H874Y	CNTN4_ENST00000427331.1_Missense_Mutation_p.H874Y|CNTN4_ENST00000397459.2_Missense_Mutation_p.H546Y|CNTN4_ENST00000358480.3_Missense_Mutation_p.H655Y|CNTN4_ENST00000418658.1_Missense_Mutation_p.H874Y|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.H546Y	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	874	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.H546Y(1)|p.H874Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTGCTGTATCACTTAGCTGT	0.418																																						uc003bpc.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(2620-2622)CAC>TAC		contactin 4 isoform a precursor							110.0	103.0	106.0					3																	3084769		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3084769C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2620C>T	3.37:g.3084769C>T	ENSP00000380602:p.His874Tyr					CNTN4_uc003bpb.1_Missense_Mutation_p.H545Y|CNTN4_uc003bpe.2_Missense_Mutation_p.H546Y|CNTN4_uc003bpf.2_Missense_Mutation_p.H545Y|CNTN4_uc003bpg.2_Missense_Mutation_p.H130Y	p.H874Y	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	21	2841	+		Ovarian(110;0.156)	874			Fibronectin type-III 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2620C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	7.232	0.599616	0.13939	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.195957	0.45606	D	0.000348	T	0.30947	0.0781	N	0.03268	-0.37	0.49389	D	0.999782	B;B	0.09022	0.0;0.002	B;B	0.06405	0.002;0.002	T	0.14172	-1.0482	9	.	.	.	.	18.7333	0.91744	0.0:1.0:0.0:0.0	.	873;874	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	Y	874;874;874;655;546;546	ENSP00000396010:H874Y;ENSP00000380602:H874Y;ENSP00000413642:H874Y;ENSP00000351267:H655Y;ENSP00000380600:H546Y;ENSP00000392077:H546Y	.	H	+	1	0	CNTN4	3059769	0.999000	0.42202	0.799000	0.32177	0.992000	0.81027	2.899000	0.48679	2.503000	0.84419	0.655000	0.94253	CAC		PASS	0.418	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			16	103	16	103	---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4716893	4716893	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:4716893G>A	ENST00000443694.2	+	20	2695	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	ITPR1_ENST00000423119.2_Missense_Mutation_p.E914K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E899K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.E914K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E914K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E899K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	914					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E899K(2)|p.E914K(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGCGAAAGGAGAAGAGAATAA	0.448																																						uc003bqa.2																			3	Substitution - Missense(3)		lung(3)	lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(2740-2742)GAA>AAA		inositol 1,4,5-triphosphate receptor, type 1							132.0	121.0	124.0					3																	4716893		1954	4141	6095	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4716893G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2695G>A	3.37:g.4716893G>A	ENSP00000401671:p.Glu899Lys					ITPR1_uc010hca.1_Missense_Mutation_p.E899K|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.E899K	p.E914K	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	23	3088	+			914			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2740G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652866	0.67472	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91068	-2.73;-2.73;-2.77;-2.77;-2.78;-2.73	4.65	4.65	0.58169	.	0.176563	0.49305	D	0.000147	D	0.84624	0.5513	L	0.27053	0.805	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.79125	-0.1932	10	0.19147	T	0.46	.	18.0648	0.89387	0.0:0.0:1.0:0.0	.	899;914;914	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	K	914;899;914;914;914;899;899	ENSP00000306253:E899K;ENSP00000346595:E914K;ENSP00000405934:E914K;ENSP00000349597:E914K;ENSP00000397885:E899K;ENSP00000401671:E899K	ENSP00000306253:E899K	E	+	1	0	ITPR1	4691893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.038000	0.93771	2.582000	0.87167	0.591000	0.81541	GAA		PASS	0.448	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		11	98	11	98	---	---	---	---
RAD18	56852	broad.mit.edu	37	3	8940593	8940593	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:8940593G>T	ENST00000264926.2	-	11	1423	c.1307C>A	c.(1306-1308)tCa>tAa	p.S436*		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	436					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)	p.S436*(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		GCATGAATCTGATTCTGATGA	0.348								Rad6 pathway																														uc003brd.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1306-1308)TCA>TAA	Rad6_pathway	postreplication repair protein hRAD18p							78.0	81.0	80.0					3																	8940593		2203	4300	6503	SO:0001587	stop_gained	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8940593G>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1307C>A	3.37:g.8940593G>T	ENSP00000264926:p.Ser436*					RAD18_uc003bre.2_RNA	p.S436*	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	11	1384	-			436					Q58F55|Q9NRT6	Nonsense_Mutation	SNP	ENST00000264926.2	37	c.1307C>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889774	0.72524	.	.	ENSG00000070950	ENST00000264926;ENST00000429790	.	.	.	4.65	4.65	0.58169	.	0.077381	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0433	13.2092	0.59815	0.0:0.0:1.0:0.0	.	.	.	.	X	436;53	.	ENSP00000264926:S436X	S	-	2	0	RAD18	8915593	0.984000	0.35163	0.191000	0.23289	0.331000	0.28603	4.177000	0.58276	2.567000	0.86603	0.557000	0.71058	TCA		PASS	0.348	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		11	138	11	138	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9784741	9784741	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:9784741C>G	ENST00000457855.1	+	6	2108	c.2097C>G	c.(2095-2097)ctC>ctG	p.L699L	BRPF1_ENST00000433861.2_Silent_p.L699L|BRPF1_ENST00000302054.3_Silent_p.L699L|BRPF1_ENST00000383829.2_Silent_p.L705L|BRPF1_ENST00000424362.1_Silent_p.L699L			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	699	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L705L(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACTTCAACCTCATCGTCAGCA	0.522																																						uc003bse.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2095-2097)CTC>CTG		bromodomain and PHD finger-containing protein 1							97.0	84.0	88.0					3																	9784741		2203	4300	6503	SO:0001819	synonymous_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9784741C>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2097C>G	3.37:g.9784741C>G						BRPF1_uc003bsf.2_Silent_p.L705L|BRPF1_uc003bsg.2_Silent_p.L699L|BRPF1_uc011ati.1_Silent_p.L699L	p.L699L	NM_004634	NP_004625	P55201	BRPF1_HUMAN			7	2496	+	Medulloblastoma(99;0.227)		699			Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.|Bromo.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	c.2097C>G	CCDS2575.1																																																																																				PASS	0.522	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		35	104	35	104	---	---	---	---
TTLL3	26140	broad.mit.edu	37	3	9868872	9868872	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:9868872G>C	ENST00000547186.1	+	9	1282	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	TTLL3_ENST00000466245.1_Intron|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.D417H|TTLL3_ENST00000397241.1_Missense_Mutation_p.D144H|TTLL3_ENST00000426895.4_Missense_Mutation_p.D499H|TTLL3_ENST00000427853.3_Missense_Mutation_p.D144H|TTLL3_ENST00000430793.1_Missense_Mutation_p.D144H|TTLL3_ENST00000455274.1_Missense_Mutation_p.D144H|TTLL3_ENST00000383827.1_Missense_Mutation_p.D144H	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	356	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.D356H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GTTCTACCGCGACAGCTATAT	0.567																																						uc003btg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(1066-1068)GAC>CAC		tubulin tyrosine ligase-like family, member 3							130.0	115.0	120.0					3																	9868872		2203	4300	6503	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9868872G>C		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1066G>C	3.37:g.9868872G>C	ENSP00000446659:p.Asp356His					ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.D323H|TTLL3_uc003btf.3_Intron|TTLL3_uc010hco.1_Missense_Mutation_p.D292H|TTLL3_uc003bth.3_Missense_Mutation_p.D144H|TTLL3_uc011atj.1_Missense_Mutation_p.D292H|TTLL3_uc003btj.3_Missense_Mutation_p.D144H|TTLL3_uc003bti.3_Missense_Mutation_p.D144H|TTLL3_uc003btk.2_Missense_Mutation_p.D159H	p.D356H	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			9	1282	+	Medulloblastoma(99;0.227)		356			TTL.		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.1066G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.17|14.17	2.456123|2.456123	0.43634|0.43634	.|.	.|.	ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021|ENSG00000214021	ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793|ENST00000310252	T;T;T;T;T;T;T;T;T|T	0.08807|0.08008	3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05|3.14	5.09|5.09	3.24|3.24	0.37175|0.37175	.|.	0.222784|.	0.35970|.	U|.	0.002862|.	T|T	0.13030|0.13030	0.0316|0.0316	L|L	0.43646|0.43646	1.37|1.37	0.38371|0.38371	D|D	0.944871|0.944871	P;P;D;P;D|.	0.76494|.	0.887;0.799;0.988;0.745;0.999|.	P;B;D;B;D|.	0.74674|.	0.728;0.429;0.969;0.421;0.984|.	T|T	0.03728|0.03728	-1.1009|-1.1009	10|7	0.72032|0.72032	D|D	0.01|0.01	.|.	9.5136|9.5136	0.39091|0.39091	0.0751:0.2682:0.6567:0.0|0.0751:0.2682:0.6567:0.0	.|.	295;144;144;144;356|.	B4DM47;Q9Y4R7-2;B2RCJ2;Q9Y4R7-5;Q9Y4R7|.	.;.;.;.;TTLL3_HUMAN|.	H|P	417;499;356;144;144;294;144;144;144|311	ENSP00000380427:D417H;ENSP00000392549:D499H;ENSP00000446659:D356H;ENSP00000380416:D144H;ENSP00000394462:D144H;ENSP00000398097:D294H;ENSP00000373338:D144H;ENSP00000409632:D144H;ENSP00000403874:D144H|ENSP00000312148:R311P	ENSP00000380416:D144H|ENSP00000312148:R311P	D|R	+|+	1|2	0|0	ARPC4-TTLL3;TTLL3|TTLL3	9843872|9843872	0.998000|0.998000	0.40836|0.40836	0.265000|0.265000	0.24526|0.24526	0.790000|0.790000	0.44656|0.44656	2.579000|2.579000	0.46059|0.46059	0.508000|0.508000	0.28173|0.28173	-0.226000|-0.226000	0.12346|0.12346	GAC|CGA		PASS	0.567	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		9	142	9	142	---	---	---	---
PRRT3	285368	broad.mit.edu	37	3	9991146	9991146	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:9991146G>A	ENST00000412055.1	-	2	783	c.654C>T	c.(652-654)gtC>gtT	p.V218V	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Silent_p.V218V	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	218						integral component of membrane (GO:0016021)		p.V218V(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTGGCCTCTTGACAGTACCTG	0.592																																						uc003bul.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(652-654)GTC>GTT		proline-rich transmembrane protein 3 precursor							50.0	60.0	56.0					3																	9991146		2139	4252	6391	SO:0001819	synonymous_variant	285368					integral to membrane		g.chr3:9991146G>A	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.654C>T	3.37:g.9991146G>A						CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA|PRRT3_uc003bum.2_Silent_p.V218V	p.V218V	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN			2	784	-			218			Extracellular (Potential).		Q49AD0|Q6UXY6|Q8NBC9	Silent	SNP	ENST00000412055.1	37	c.654C>T	CCDS43049.1																																																																																				PASS	0.592	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		5	81	5	81	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10318076	10318076	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:10318076C>G	ENST00000287652.4	+	5	2916	c.1865C>G	c.(1864-1866)tCt>tGt	p.S622C	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.S622C|TATDN2_ENST00000496355.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	622					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.S622C(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGGCTGTGTCTCTAAAGAAG	0.493																																						uc003bvg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(1864-1866)TCT>TGT		TatD DNase domain containing 2							105.0	106.0	105.0					3																	10318076		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10318076C>G	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1865C>G	3.37:g.10318076C>G	ENSP00000287652:p.Ser622Cys					TATDN2_uc003bvf.2_Missense_Mutation_p.S622C|TATDN2_uc011atr.1_Missense_Mutation_p.S622C|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA|TATDN2_uc011atu.1_5'Flank|TATDN2_uc011atv.1_5'Flank	p.S622C	NM_014760	NP_055575	Q93075	TATD2_HUMAN			5	2446	+			622					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.1865C>G	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782059	0.70222	.	.	ENSG00000157014	ENST00000287652;ENST00000448281;ENST00000426850	T;T	0.24908	1.83;1.83	5.24	5.24	0.73138	.	0.452065	0.15590	U	0.254457	T	0.52191	0.1719	M	0.76170	2.325	0.29874	N	0.826606	D	0.69078	0.997	D	0.68353	0.957	T	0.53599	-0.8416	10	0.87932	D	0	-7.9816	16.3447	0.83118	0.0:1.0:0.0:0.0	.	622	Q93075	TATD2_HUMAN	C	622;622;43	ENSP00000287652:S622C;ENSP00000408736:S622C	ENSP00000287652:S622C	S	+	2	0	TATDN2	10293076	0.997000	0.39634	0.998000	0.56505	0.859000	0.49053	5.086000	0.64474	2.449000	0.82847	0.563000	0.77884	TCT		PASS	0.493	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		39	106	39	106	---	---	---	---
SEC13	6396	broad.mit.edu	37	3	10343031	10343031	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:10343031C>G	ENST00000350697.3	-	9	1008	c.883G>C	c.(883-885)Ggg>Cgg	p.G295R	SEC13_ENST00000337354.4_Missense_Mutation_p.G298R|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000383801.2_Missense_Mutation_p.G341R|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000397109.3_Missense_Mutation_p.G281R	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	295					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.G295R(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						ACCCACTGCCCATCAACTGAC	0.567																																						uc003bvn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(883-885)GGG>CGG		SEC13 protein isoform 1							119.0	86.0	97.0					3																	10343031		2203	4300	6503	SO:0001583	missense	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10343031C>G		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.883G>C	3.37:g.10343031C>G	ENSP00000312122:p.Gly295Arg					SEC13_uc003bvl.2_Missense_Mutation_p.G227R|SEC13_uc003bvm.2_Missense_Mutation_p.G281R|SEC13_uc003bvp.2_Missense_Mutation_p.G298R|SEC13_uc003bvo.2_Missense_Mutation_p.G341R|SEC13_uc003bvq.1_Intron	p.G295R	NM_183352	NP_899195	P55735	SEC13_HUMAN			9	1002	-			295			WD 6.		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	c.883G>C	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895306	0.91962	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	T;T;T;T	0.70631	-0.38;-0.38;-0.38;-0.5	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.85296	0.1070	10	0.87932	D	0	.	16.3231	0.82958	0.0:1.0:0.0:0.0	.	341;295	B4DXJ1;P55735	.;SEC13_HUMAN	R	281;298;295;341	ENSP00000380298:G281R;ENSP00000336566:G298R;ENSP00000312122:G295R;ENSP00000373312:G341R	ENSP00000336566:G298R	G	-	1	0	SEC13	10318031	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	7.696000	0.84270	2.433000	0.82419	0.655000	0.94253	GGG		PASS	0.567	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			4	85	4	85	---	---	---	---
ATG7	10533	broad.mit.edu	37	3	11399906	11399906	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:11399906C>G	ENST00000354449.3	+	13	1324	c.1299C>G	c.(1297-1299)ttC>ttG	p.F433L	ATG7_ENST00000446450.2_Missense_Mutation_p.F394L|ATG7_ENST00000354956.5_Missense_Mutation_p.F433L	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	433					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.F433L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CCAGAGGATTCAACATGAGCA	0.512																																						uc003bwc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1297-1299)TTC>TTG		APG7 autophagy 7-like isoform a							203.0	191.0	195.0					3																	11399906		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11399906C>G	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1299C>G	3.37:g.11399906C>G	ENSP00000346437:p.Phe433Leu					ATG7_uc003bwd.2_Missense_Mutation_p.F433L|ATG7_uc011aum.1_Missense_Mutation_p.F394L	p.F433L	NM_006395	NP_006386	O95352	ATG7_HUMAN			13	1416	+			433					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.1299C>G	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501418	0.44455	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.07114	3.22;3.22;3.22	5.55	4.56	0.56223	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.260248	0.40144	N	0.001162	T	0.03739	0.0106	N	0.11651	0.15	0.43503	D	0.995757	B;B;B	0.19073	0.033;0.007;0.015	B;B;B	0.27170	0.077;0.018;0.048	T	0.45498	-0.9257	10	0.11182	T	0.66	-13.6828	3.605	0.08039	0.0:0.6501:0.0:0.3499	.	394;433;433	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	L	394;433;433	ENSP00000412580:F394L;ENSP00000347042:F433L;ENSP00000346437:F433L	ENSP00000346437:F433L	F	+	3	2	ATG7	11374906	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.201000	0.32259	2.620000	0.88729	0.655000	0.94253	TTC		PASS	0.512	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		63	258	63	258	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18390710	18390710	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:18390710C>G	ENST00000338745.6	-	11	3978	c.2244G>C	c.(2242-2244)gaG>gaC	p.E748D	SATB1_ENST00000454909.2_Missense_Mutation_p.E748D|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.E780D	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	748					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E748D(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCACTGACAGCTCTTCTTCTA	0.358																																						uc003cbh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(2242-2244)GAG>GAC		special AT-rich sequence binding protein 1							123.0	128.0	126.0					3																	18390710		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18390710C>G		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.2244G>C	3.37:g.18390710C>G	ENSP00000341024:p.Glu748Asp					SATB1_uc003cbi.2_Missense_Mutation_p.E780D|SATB1_uc003cbj.2_Missense_Mutation_p.E748D	p.E748D	NM_002971	NP_002962	Q01826	SATB1_HUMAN			11	3979	-			748					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.2244G>C	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	1.090	-0.664370	0.03428	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.49432	0.81;0.81;0.78	5.45	4.47	0.54385	.	0.178395	0.48767	D	0.000170	T	0.26048	0.0635	N	0.12182	0.205	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.12016	-1.0564	10	0.51188	T	0.08	-0.0694	5.4807	0.16721	0.1891:0.655:0.0:0.1559	.	780;748	Q01826-2;Q01826	.;SATB1_HUMAN	D	748;748;780	ENSP00000341024:E748D;ENSP00000399708:E748D;ENSP00000399518:E780D	ENSP00000341024:E748D	E	-	3	2	SATB1	18365714	1.000000	0.71417	0.977000	0.42913	0.102000	0.19082	0.803000	0.27083	2.580000	0.87095	0.655000	0.94253	GAG		PASS	0.358	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		40	217	40	217	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19554619	19554619	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:19554619A>T	ENST00000328405.2	+	13	2503	c.2237A>T	c.(2236-2238)aAa>aTa	p.K746I		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	746					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.K746I(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGAAGCAATAAAGCCTACCTG	0.547																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(2236-2238)AAA>ATA		potassium voltage-gated channel, subfamily H,							89.0	78.0	82.0					3																	19554619		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19554619A>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2237A>T	3.37:g.19554619A>T	ENSP00000328813:p.Lys746Ile					KCNH8_uc010hex.1_Missense_Mutation_p.K207I	p.K746I	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			13	2432	+			746			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2237A>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952217	0.53293	.	.	ENSG00000183960	ENST00000328405	D	0.98666	-5.06	5.87	5.87	0.94306	.	0.000000	0.32593	U	0.005889	D	0.97167	0.9074	L	0.55481	1.735	0.80722	D	1	B	0.23058	0.079	B	0.25987	0.065	D	0.96060	0.9038	9	.	.	.	.	14.8558	0.70335	1.0:0.0:0.0:0.0	.	746	Q96L42	KCNH8_HUMAN	I	746	ENSP00000328813:K746I	.	K	+	2	0	KCNH8	19529623	1.000000	0.71417	0.993000	0.49108	0.689000	0.40095	4.464000	0.60134	2.242000	0.73789	0.528000	0.53228	AAA		PASS	0.547	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		19	103	19	103	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25657068	25657068	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:25657068C>G	ENST00000264331.4	-	26	3360	c.3361G>C	c.(3361-3363)Gag>Cag	p.E1121Q	TOP2B_ENST00000435706.2_Missense_Mutation_p.E1116Q|TOP2B_ENST00000542520.1_5'UTR|TOP2B_ENST00000475717.1_5'UTR|TOP2B_ENST00000540199.1_5'UTR	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1121					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.E1116Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GTTTCATCCTCTTCTGCTGCC	0.303																																						uc011awn.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(3361-3363)GAG>CAG		DNA topoisomerase II, beta isozyme							13.0	13.0	13.0					3																	25657068		1804	4063	5867	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25657068C>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.3361G>C	3.37:g.25657068C>G	ENSP00000264331:p.Glu1121Gln					TOP2B_uc003cdj.2_Missense_Mutation_p.E1116Q|TOP2B_uc011awm.1_5'UTR|TOP2B_uc010hff.1_Intron	p.E1121Q	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			26	3404	-			1121					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.3361G>C		.	.	.	.	.	.	.	.	.	.	C	20.4	3.992072	0.74703	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48836	0.8;0.8	5.13	5.13	0.70059	.	0.094242	0.64402	D	0.000001	T	0.57286	0.2043	L	0.47078	1.49	0.80722	D	1	D	0.57257	0.979	P	0.57548	0.823	T	0.48747	-0.9008	10	0.22109	T	0.4	-7.6985	19.0056	0.92849	0.0:1.0:0.0:0.0	.	1116	Q02880-2	.	Q	1116;1121;1116	ENSP00000396704:E1116Q;ENSP00000264331:E1121Q	ENSP00000264331:E1121Q	E	-	1	0	TOP2B	25632072	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.594000	0.67557	2.558000	0.86282	0.558000	0.71614	GAG		PASS	0.303	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				5	9	5	9	---	---	---	---
SLC4A7	9497	broad.mit.edu	37	3	27477968	27477968	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:27477968G>C	ENST00000295736.5	-	5	543	c.473C>G	c.(472-474)tCt>tGt	p.S158C	SLC4A7_ENST00000425128.2_Missense_Mutation_p.S163C|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S167C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S163C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S163C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S163C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S167C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S167C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S167C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S158C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	158					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.S158C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ACTGTGCAAAGAGAGAGTTGC	0.383																																						uc003cdv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(472-474)TCT>TGT		solute carrier family 4, sodium bicarbonate							103.0	93.0	97.0					3																	27477968		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27477968G>C	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.473C>G	3.37:g.27477968G>C	ENSP00000295736:p.Ser158Cys					SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.S163C|SLC4A7_uc011aww.1_Missense_Mutation_p.S167C|SLC4A7_uc011awx.1_Missense_Mutation_p.S167C|SLC4A7_uc011awy.1_Missense_Mutation_p.S163C|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.S163C|SLC4A7_uc011axb.1_Missense_Mutation_p.S167C|SLC4A7_uc010hfm.2_Missense_Mutation_p.S163C|SLC4A7_uc003cdw.2_Missense_Mutation_p.S158C	p.S158C	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			5	544	-			158			Extracellular (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.473C>G	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174002	0.94807	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	6.07	6.07	0.98685	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.87811	0.6271	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;0.997;0.996;1.0;0.997	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.976;0.998;0.998;0.998;0.98;0.959;0.998;0.976	D	0.88554	0.3118	10	0.87932	D	0	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	167;163;163;167;167;163;158;158;163	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	158;158;167;167;163;163;163;167;167;163;158	ENSP00000295736:S158C;ENSP00000416368:S158C;ENSP00000390394:S167C;ENSP00000414797:S167C;ENSP00000394252:S163C;ENSP00000406605:S163C;ENSP00000407382:S163C;ENSP00000406804:S167C;ENSP00000395336:S167C;ENSP00000401949:S163C;ENSP00000388703:S158C	ENSP00000295736:S158C	S	-	2	0	SLC4A7	27452972	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	TCT		PASS	0.383	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		13	89	13	89	---	---	---	---
SLC4A7	9497	broad.mit.edu	37	3	27498162	27498162	+	Missense_Mutation	SNP	G	G	A	rs144006432		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:27498162G>A	ENST00000295736.5	-	1	83	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000454389.1_Intron|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000446700.1_Intron|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000445684.1_Intron|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000440156.1_Intron|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R5C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	5					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R5C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TTCTCCAGACGAAATCTTTCC	0.343																																						uc003cdv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(13-15)CGT>TGT		solute carrier family 4, sodium bicarbonate		G	CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	129.0	129.0	129.0		13	1.2	0.6	3	dbSNP_134	129	0,8600		0,0,4300	no	missense	SLC4A7	NM_003615.3	180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	5/1215	27498162	1,13003	2202	4300	6502	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27498162G>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.13C>T	3.37:g.27498162G>A	ENSP00000295736:p.Arg5Cys					SLC4A7_uc011awu.1_Intron|SLC4A7_uc011awv.1_Intron|SLC4A7_uc003cdu.3_Intron|SLC4A7_uc011aww.1_Intron|SLC4A7_uc011awx.1_Intron|SLC4A7_uc011awy.1_Intron|SLC4A7_uc011awz.1_Intron|SLC4A7_uc011axa.1_Intron|SLC4A7_uc011axb.1_Intron|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdw.2_Missense_Mutation_p.R5C	p.R5C	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			1	84	-			5			Extracellular (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.13C>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060701	0.36373	2.27E-4	0.0	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000428179	T;T;T	0.78246	-1.11;-1.16;-1.16	5.11	1.25	0.21368	.	1.031700	0.07744	N	0.947480	T	0.59985	0.2234	N	0.08118	0	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52056	-0.8626	10	0.87932	D	0	.	8.9251	0.35634	0.328:0.0:0.672:0.0	.	5;5	Q9Y6M7-2;Q9Y6M7	.;S4A7_HUMAN	C	5	ENSP00000295736:R5C;ENSP00000416368:R5C;ENSP00000388703:R5C	ENSP00000295736:R5C	R	-	1	0	SLC4A7	27473166	0.001000	0.12720	0.644000	0.29465	0.996000	0.88848	0.342000	0.19926	0.277000	0.22141	0.591000	0.81541	CGT		PASS	0.343	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		25	91	25	91	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38158765	38158765	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:38158765G>C	ENST00000308059.6	+	31	4393	c.4372G>C	c.(4372-4374)Gac>Cac	p.D1458H	DLEC1_ENST00000346219.3_Missense_Mutation_p.D1458H|DLEC1_ENST00000452631.2_Missense_Mutation_p.D1461H					deleted in lung and esophageal cancer 1									p.D1458H(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCTGAAACTGGACCTGCATAG	0.597																																						uc003cho.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4372-4374)GAC>CAC		deleted in lung and esophageal cancer 1 isoform							60.0	66.0	64.0					3																	38158765		2106	4229	6335	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158765G>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4372G>C	3.37:g.38158765G>C	ENSP00000308597:p.Asp1458His					DLEC1_uc003chp.1_Missense_Mutation_p.D1458H|DLEC1_uc010hgv.1_Missense_Mutation_p.D1461H|DLEC1_uc003chr.1_Missense_Mutation_p.D529H|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'UTR	p.D1458H	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	31	4393	+			1458						Missense_Mutation	SNP	ENST00000308059.6	37	c.4372G>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	18.53	3.645000	0.67358	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.10860	2.88;2.83;3.11	4.75	3.87	0.44632	.	0.147052	0.43579	D	0.000544	T	0.30135	0.0755	M	0.75264	2.295	0.51233	D	0.999918	D;D;D;D	0.76494	0.999;0.997;0.999;0.999	D;P;D;D	0.68621	0.958;0.891;0.959;0.958	T	0.03684	-1.1013	10	0.72032	D	0.01	-16.6608	11.9728	0.53073	0.0875:0.0:0.9125:0.0	.	1461;1458;1458;1458	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	H	1458;1458;1461	ENSP00000308597:D1458H;ENSP00000315914:D1458H;ENSP00000410427:D1461H	ENSP00000308597:D1458H	D	+	1	0	DLEC1	38133769	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.642000	0.46596	1.130000	0.42092	0.655000	0.94253	GAC		PASS	0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		4	45	4	45	---	---	---	---
CCDC13	152206	broad.mit.edu	37	3	42799624	42799624	+	Missense_Mutation	SNP	C	C	G	rs140850059		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:42799624C>G	ENST00000310232.6	-	2	297	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	72								p.E72Q(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TACCTCTTCTCAAAGCTATTT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		15645	0.001		0.0	False		,,,				2504	0.0					uc003cly.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(214-216)GAG>CAG		coiled-coil domain containing 13							110.0	100.0	103.0					3																	42799624		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42799624C>G	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.214G>C	3.37:g.42799624C>G	ENSP00000309836:p.Glu72Gln					CCDC13_uc003clz.2_Missense_Mutation_p.E72Q|CCDC13_uc011azq.1_Missense_Mutation_p.E72Q	p.E72Q	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN			2	298	-			72			Potential.			Missense_Mutation	SNP	ENST00000310232.6	37	c.214G>C	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	3.818	-0.038279	0.07497	.	.	ENSG00000244607	ENST00000310232	T	0.23552	1.9	4.59	0.0698	0.14376	.	0.987449	0.08279	N	0.970275	T	0.16854	0.0405	L	0.31294	0.92	0.09310	N	0.999997	B;B;B	0.16396	0.017;0.009;0.005	B;B;B	0.14578	0.011;0.007;0.005	T	0.35425	-0.9789	10	0.18276	T	0.48	.	8.2534	0.31739	0.0:0.4526:0.4501:0.0973	.	72;72;72	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	Q	72	ENSP00000309836:E72Q	ENSP00000309836:E72Q	E	-	1	0	CCDC13	42774628	0.966000	0.33281	0.190000	0.23270	0.470000	0.32858	0.392000	0.20801	0.114000	0.18032	0.655000	0.94253	GAG		PASS	0.488	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		10	72	10	72	---	---	---	---
ZNF197	10168	broad.mit.edu	37	3	44685566	44685566	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:44685566G>T	ENST00000396058.1	+	5	3111	c.2944G>T	c.(2944-2946)Gat>Tat	p.D982Y	ZNF197_ENST00000344387.4_Missense_Mutation_p.D982Y|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	982					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.D982Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AATCCACACAGATGAAAAACC	0.373																																						uc003cnm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2944-2946)GAT>TAT		zinc finger protein 197 isoform 1							56.0	59.0	58.0					3																	44685566		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44685566G>T	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2944G>T	3.37:g.44685566G>T	ENSP00000379370:p.Asp982Tyr					ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	p.D982Y	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	6	3150	+			982					B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.2944G>T	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813286	0.32053	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.07908	3.15;3.15	3.51	3.51	0.40186	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26557	0.0649	M	0.69823	2.125	0.25736	N	0.985219	P	0.51653	0.947	P	0.62649	0.905	T	0.02009	-1.1230	9	0.87932	D	0	.	15.0177	0.71600	0.0:0.0:1.0:0.0	.	982	O14709	ZN197_HUMAN	Y	982	ENSP00000345809:D982Y;ENSP00000379370:D982Y	ENSP00000345809:D982Y	D	+	1	0	ZNF197	44660570	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.277000	0.43417	2.252000	0.74401	0.557000	0.71058	GAT		PASS	0.373	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		12	100	12	100	---	---	---	---
LIMD1	8994	broad.mit.edu	37	3	45637322	45637322	+	Silent	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:45637322G>T	ENST00000273317.4	+	1	972	c.951G>T	c.(949-951)ggG>ggT	p.G317G	LIMD1_ENST00000440097.1_Silent_p.G317G|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	317					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G317G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CAAACTCGGGGCTGGGGGGTG	0.602																																						uc003coq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(949-951)GGG>GGT		LIM domains containing 1							59.0	64.0	62.0					3																	45637322		2203	4300	6503	SO:0001819	synonymous_variant	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45637322G>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.951G>T	3.37:g.45637322G>T							p.G317G	NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	1000	+			317					Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	ENST00000273317.4	37	c.951G>T	CCDS2729.1																																																																																				PASS	0.602	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		44	67	44	67	---	---	---	---
XCR1	2829	broad.mit.edu	37	3	46062519	46062519	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:46062519G>C	ENST00000309285.3	-	2	1277	c.921C>G	c.(919-921)ttC>ttG	p.F307L	XCR1_ENST00000542109.1_Missense_Mutation_p.F307L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	307					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.F307L(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCAGCCGGCAGAACCAGAACT	0.627																																						uc003cpe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(919-921)TTC>TTG		XC chemokine receptor 1							41.0	43.0	42.0					3																	46062519		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46062519G>C		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.921C>G	3.37:g.46062519G>C	ENSP00000310405:p.Phe307Leu					uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.F307L	p.F307L	NM_005283	NP_005274	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	3	1145	-			307			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000309285.3	37	c.921C>G	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.640148	0.00799	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.36340	1.26;1.26	5.73	-4.65	0.03339	.	7739.210000	0.01697	U	0.026960	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13124	-1.0521	10	0.13108	T	0.6	.	4.9833	0.14178	0.1755:0.4856:0.1861:0.1528	.	307	P46094	XCR1_HUMAN	L	307	ENSP00000310405:F307L;ENSP00000438119:F307L	ENSP00000310405:F307L	F	-	3	2	XCR1	46037523	0.019000	0.18553	0.020000	0.16555	0.001000	0.01503	-0.544000	0.06077	-0.549000	0.06191	0.655000	0.94253	TTC		PASS	0.627	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			3	22	3	22	---	---	---	---
ARIH2OS	646450	broad.mit.edu	37	3	48955980	48955980	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:48955980C>G	ENST00000408959.2	-	1	838	c.603G>C	c.(601-603)caG>caC	p.Q201H	ARIH2_ENST00000449376.1_5'Flank|ARIH2_ENST00000356401.4_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	201						integral component of membrane (GO:0016021)		p.Q201H(1)									CAATGGTTATCTGCTCCACTG	0.582																																						uc010hkk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)CAG>CAC		hypothetical protein LOC646450							67.0	70.0	69.0					3																	48955980		1568	3582	5150	SO:0001583	missense	646450					integral to membrane		g.chr3:48955980C>G	DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 71"""	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.603G>C	3.37:g.48955980C>G	ENSP00000386193:p.Gln201His					ARIH2_uc003cvb.2_5'Flank|ARIH2_uc003cvc.2_5'Flank	p.Q201H	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN			1	839	-			201						Missense_Mutation	SNP	ENST00000408959.2	37	c.603G>C	CCDS43088.1	.	.	.	.	.	.	.	.	.	.	C	6.239	0.412247	0.11812	.	.	ENSG00000221883	ENST00000408959	.	.	.	2.87	1.05	0.20165	.	.	.	.	.	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.20505	-1.0273	8	0.87932	D	0	.	5.8213	0.18528	0.191:0.691:0.0:0.1179	.	201	Q8N7S6	CC071_HUMAN	H	201	.	ENSP00000386193:Q201H	Q	-	3	2	C3orf71	48930984	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.014000	0.12656	-0.004000	0.14419	-0.808000	0.03180	CAG		PASS	0.582	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345247.1	NM_001123040		4	82	4	82	---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49724666	49724666	+	5'Flank	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:49724666C>A	ENST00000327697.6	+	0	0				MST1_ENST00000449682.2_Missense_Mutation_p.D175Y|MST1_ENST00000545762.1_Silent_p.L122L|MST1_ENST00000494828.2_5'UTR|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000383728.3_Missense_Mutation_p.D100Y|AC099668.5_ENST00000563780.1_RNA	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D161Y(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGGTCGCCATCAGGGTTACGG	0.627																																						uc003cxg.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(523-525)GAT>TAT		macrophage stimulating 1 (hepatocyte growth							36.0	37.0	37.0					3																	49724666		2203	4300	6503	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724666C>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724666C>A	Exception_encountered					MST1_uc011bcs.1_Missense_Mutation_p.D175Y|MST1_uc010hkx.2_Missense_Mutation_p.D96Y|MST1_uc011bct.1_Missense_Mutation_p.D175Y|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	p.D175Y	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	595	-			161			Kringle 1.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.523G>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586062	0.86748	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.74002	-0.8;-0.8	6.08	6.08	0.98989	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.155460	0.29715	N	0.011396	D	0.91529	0.7325	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.987;0.996;0.993	D	0.93015	0.6435	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	161;161;175	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	Y	175;100	ENSP00000414287:D175Y;ENSP00000373234:D100Y	ENSP00000373234:D100Y	D	-	1	0	MST1	49699670	1.000000	0.71417	0.155000	0.22561	0.598000	0.36846	6.045000	0.71020	2.894000	0.99253	0.591000	0.81541	GAT		PASS	0.627	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		8	49	8	49	---	---	---	---
DUSP7	1849	broad.mit.edu	37	3	52085122	52085122	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:52085122C>T	ENST00000495880.1	-	3	1152	c.969G>A	c.(967-969)aaG>aaA	p.K323K	DUSP7_ENST00000296483.6_Silent_p.K272K			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	323	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.K272K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACCACACTTCTTGGAGCGGG	0.597																																						uc003dct.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(967-969)AAG>AAA		dual specificity phosphatase 7							70.0	64.0	66.0					3																	52085122		2203	4300	6503	SO:0001819	synonymous_variant	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52085122C>T	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.969G>A	3.37:g.52085122C>T							p.K323K	NM_001947	NP_001938	Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1048	-			323			Tyrosine-protein phosphatase.		Q2M3J7|Q8NFJ0	Silent	SNP	ENST00000495880.1	37	c.969G>A	CCDS33766.2																																																																																				PASS	0.597	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		11	50	11	50	---	---	---	---
DUSP7	1849	broad.mit.edu	37	3	52088272	52088272	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:52088272G>C	ENST00000495880.1	-	2	819	c.636C>G	c.(634-636)atC>atG	p.I212M	DUSP7_ENST00000296483.6_Missense_Mutation_p.I161M			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	212	Ser-rich.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.I161M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTCAGAGCTGATGCGCAGGC	0.657																																						uc003dct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(634-636)ATC>ATG		dual specificity phosphatase 7							58.0	61.0	60.0					3																	52088272		2203	4299	6502	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52088272G>C	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.636C>G	3.37:g.52088272G>C	ENSP00000417183:p.Ile212Met					DUSP7_uc010hma.2_Missense_Mutation_p.I212M	p.I212M	NM_001947	NP_001938	Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	715	-			212			Ser-rich.		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.636C>G	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906913	0.72868	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	T;T;T	0.12465	4.08;4.12;2.68	5.53	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.76071	0.962;0.987	T	0.02625	-1.1132	10	0.72032	D	0.01	.	8.1472	0.31119	0.0723:0.0:0.5424:0.3853	.	161;212	Q16829-2;Q16829	.;DUS7_HUMAN	M	212;161;145	ENSP00000417183:I212M;ENSP00000296483:I161M;ENSP00000418566:I145M	ENSP00000296483:I161M	I	-	3	3	DUSP7	52063312	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.559000	0.45888	0.689000	0.31550	0.549000	0.68633	ATC		PASS	0.657	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		27	42	27	42	---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52821623	52821623	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:52821623G>C	ENST00000273283.2	+	16	1943	c.1919G>C	c.(1918-1920)aGa>aCa	p.R640T	ITIH1_ENST00000540715.1_Missense_Mutation_p.R498T|ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000537050.1_Missense_Mutation_p.R352T|ITIH1_ENST00000405128.3_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	640	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R640T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CTGGGACCCAGAAGGAGTAAG	0.532																																						uc003dfs.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1918-1920)AGA>ACA		inter-alpha (globulin) inhibitor H1							187.0	161.0	170.0					3																	52821623		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52821623G>C		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1919G>C	3.37:g.52821623G>C	ENSP00000273283:p.Arg640Thr					ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.R241T|ITIH1_uc010hmo.1_Missense_Mutation_p.R194T|ITIH1_uc003dfu.2_5'Flank	p.R640T	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	16	1943	+			640			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.1919G>C	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	9.952	1.220322	0.22457	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T	0.03065	4.86;4.72;4.56;4.06	4.19	4.19	0.49359	.	0.344978	0.28724	N	0.014357	T	0.04182	0.0116	L	0.52126	1.63	0.36337	D	0.859208	B;B;B	0.26318	0.001;0.146;0.085	B;B;B	0.22152	0.015;0.038;0.016	T	0.30909	-0.9962	10	0.10377	T	0.69	-19.3639	12.3089	0.54918	0.0:0.0:1.0:0.0	.	498;241;640	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	T	640;498;352;193	ENSP00000273283:R640T;ENSP00000443973:R498T;ENSP00000443847:R352T;ENSP00000395836:R193T	ENSP00000273283:R640T	R	+	2	0	ITIH1	52796663	0.998000	0.40836	1.000000	0.80357	0.838000	0.47535	1.053000	0.30442	2.621000	0.88768	0.591000	0.81541	AGA		PASS	0.532	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		14	85	14	85	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53766064	53766064	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:53766064G>C	ENST00000350061.5	+	18	2939	c.2428G>C	c.(2428-2430)Gaa>Caa	p.E810Q	CACNA1D_ENST00000288139.4_Missense_Mutation_p.E830Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E810Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	810					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.E830Q(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)	TGACTATAGAGAAGAGGATGA	0.512																																						uc003dgv.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(2428-2430)GAA>CAA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						90.0	83.0	85.0					3																	53766064		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53766064G>C	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.2428G>C	3.37:g.53766064G>C	ENSP00000288133:p.Glu810Gln					CACNA1D_uc003dgu.3_Missense_Mutation_p.E830Q|CACNA1D_uc003dgy.3_Missense_Mutation_p.E810Q|CACNA1D_uc003dgw.3_Missense_Mutation_p.E477Q|CACNA1D_uc003dgx.1_5'UTR	p.E810Q	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)	18	2591	+			810			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2428G>C	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889223	0.52014	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.96073	-3.87;-3.9;-3.89;-3.89	5.66	5.66	0.87406	.	0.111163	0.40554	N	0.001062	D	0.93006	0.7774	L	0.45137	1.4	0.80722	D	1	B;B;B;P	0.36392	0.415;0.014;0.042;0.551	B;B;B;B	0.36666	0.096;0.01;0.048;0.23	D	0.91519	0.5233	10	0.30078	T	0.28	.	17.2663	0.87087	0.0:0.0:1.0:0.0	.	810;503;810;830	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	Q	810;830;810;503	ENSP00000288133:E810Q;ENSP00000288139:E830Q;ENSP00000409174:E810Q;ENSP00000418014:E503Q	ENSP00000288139:E830Q	E	+	1	0	CACNA1D	53741104	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	3.647000	0.54403	2.814000	0.96858	0.655000	0.94253	GAA		PASS	0.512	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		14	68	14	68	---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58112437	58112437	+	Silent	SNP	C	C	T	rs374070003		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:58112437C>T	ENST00000295956.4	+	24	4335	c.4170C>T	c.(4168-4170)ttC>ttT	p.F1390F	FLNB_ENST00000429972.2_Silent_p.F1390F|FLNB_ENST00000493452.1_Silent_p.F1221F|FLNB_ENST00000348383.5_Silent_p.F1390F|FLNB_ENST00000490882.1_Silent_p.F1390F|FLNB_ENST00000419752.2_Silent_p.F1221F|FLNB_ENST00000358537.3_Silent_p.F1390F|FLNB_ENST00000357272.4_Silent_p.F1390F	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1390	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.F1390F(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACATTCCTTTCGCACCGGGGG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18342	0.0		0.0	False		,,,				2504	0.001					uc003djj.2																			2	Substitution - coding silent(2)		lung(2)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(4168-4170)TTC>TTT		filamin B isoform 2		C	,,,	0,4406		0,0,2203	97.0	98.0	98.0		4170,4170,4170,4170	0.4	1.0	3		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	1390/2634,1390/2592,1390/2579,1390/2603	58112437	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58112437C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4170C>T	3.37:g.58112437C>T						FLNB_uc010hne.2_Silent_p.F1390F|FLNB_uc003djk.2_Silent_p.F1390F|FLNB_uc010hnf.2_Silent_p.F1390F|FLNB_uc003djl.2_Silent_p.F1221F|FLNB_uc003djm.2_Silent_p.F1221F	p.F1390F	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	24	4335	+			1390			Filamin 12.|Interaction with FBLP1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.4170C>T	CCDS2885.1																																																																																				PASS	0.488	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		20	91	20	91	---	---	---	---
PXK	54899	broad.mit.edu	37	3	58368400	58368400	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:58368400C>G	ENST00000356151.2	+	4	470	c.361C>G	c.(361-363)Cca>Gca	p.P121A	PXK_ENST00000463280.1_Missense_Mutation_p.P88A|PXK_ENST00000484288.1_Missense_Mutation_p.P121A|PXK_ENST00000479241.1_Missense_Mutation_p.P104A|PXK_ENST00000383716.3_Missense_Mutation_p.P88A|PXK_ENST00000302779.5_Missense_Mutation_p.P104A|PXK_ENST00000383715.4_Missense_Mutation_p.P104A|PXK_ENST00000536660.1_Intron	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase									p.P121A(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GTTTTTAGATCCAAACAACTA	0.393																																						uc003djz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(361-363)CCA>GCA		PX domain containing serine/threonine kinase							110.0	99.0	103.0					3																	58368400		2203	4300	6503	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58368400C>G	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.361C>G	3.37:g.58368400C>G	ENSP00000348472:p.Pro121Ala					PXK_uc003djx.1_Missense_Mutation_p.P121A|PXK_uc003djy.1_Missense_Mutation_p.P104A|PXK_uc003dka.1_Missense_Mutation_p.P121A|PXK_uc003dkb.1_Missense_Mutation_p.P38A|PXK_uc003dkc.1_Missense_Mutation_p.P104A|PXK_uc011bfe.1_Missense_Mutation_p.P88A|PXK_uc010hnj.1_Missense_Mutation_p.P88A|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_Translation_Start_Site	p.P121A	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	4	460	+			121			Protein kinase.|PX.			Missense_Mutation	SNP	ENST00000356151.2	37	c.361C>G	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603789	0.87157	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000491164	T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.57	5.57	0.84162	Phox homologous domain (5);Protein kinase, catalytic domain (1);	0.049795	0.85682	D	0.000000	T	0.62816	0.2459	M	0.69358	2.11	0.80722	D	1	P;D;P;D;P;P	0.60160	0.955;0.984;0.885;0.987;0.946;0.944	P;P;P;P;P;P	0.61940	0.763;0.82;0.589;0.896;0.592;0.651	T	0.63782	-0.6559	10	0.59425	D	0.04	-13.0097	19.5451	0.95291	0.0:1.0:0.0:0.0	.	88;88;88;121;104;121	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.;.;.;PXK_HUMAN;.;.	A	121;104;88;88;104;121;104;112	ENSP00000348472:P121A;ENSP00000305045:P104A;ENSP00000373222:P88A;ENSP00000417903:P88A;ENSP00000373221:P104A;ENSP00000417915:P121A;ENSP00000419049:P104A;ENSP00000418831:P112A	ENSP00000305045:P104A	P	+	1	0	PXK	58343440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.237000	0.58681	2.600000	0.87896	0.655000	0.94253	CCA		PASS	0.393	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		15	118	15	118	---	---	---	---
FAM107A	11170	broad.mit.edu	37	3	58555429	58555429	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:58555429C>T	ENST00000394481.1	-	3	717	c.159G>A	c.(157-159)atG>atA	p.M53I	FAM107A_ENST00000464064.1_Missense_Mutation_p.M53I|FAM107A_ENST00000474531.1_Missense_Mutation_p.M84I|FAM107A_ENST00000447756.2_Missense_Mutation_p.M81I|FAM107A_ENST00000360997.2_Missense_Mutation_p.M53I	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	53					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)		p.M53I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TTCTGTGGTTCATGAGCAGCT	0.617																																						uc003dkm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)ATG>ATA		downregulated in renal cell carcinoma							61.0	63.0	62.0					3																	58555429		2203	4300	6503	SO:0001583	missense	11170				regulation of cell growth	nucleus	protein binding	g.chr3:58555429C>T	AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.159G>A	3.37:g.58555429C>T	ENSP00000377991:p.Met53Ile					FAM107A_uc003dko.2_Missense_Mutation_p.M84I|FAM107A_uc003dkn.2_Missense_Mutation_p.M53I|FAM107A_uc010hnm.2_Missense_Mutation_p.M81I|FAM107A_uc003dkp.1_Missense_Mutation_p.M53I	p.M53I	NM_007177	NP_009108	O95990	F107A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)	3	718	-			53					B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	ENST00000394481.1	37	c.159G>A	CCDS2892.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756737	0.69648	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000464064;ENST00000474531;ENST00000447756;ENST00000465970	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	4.8	4.8	0.61643	.	0.232253	0.47455	D	0.000229	T	0.40570	0.1122	L	0.45137	1.4	0.58432	D	0.999998	B;B;B;B	0.23735	0.09;0.007;0.037;0.017	B;B;B;B	0.28385	0.089;0.009;0.038;0.025	T	0.25916	-1.0118	10	0.40728	T	0.16	-28.6286	17.8445	0.88725	0.0:1.0:0.0:0.0	.	81;53;84;53	B7ZAY5;O95990-2;B3KNQ4;O95990	.;.;.;F107A_HUMAN	I	53;53;53;84;81;53	ENSP00000354270:M53I;ENSP00000377991:M53I;ENSP00000419529:M53I;ENSP00000419124:M84I;ENSP00000400858:M81I;ENSP00000418038:M53I	ENSP00000354270:M53I	M	-	3	0	FAM107A	58530469	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.887000	0.56197	2.392000	0.81423	0.655000	0.94253	ATG		PASS	0.617	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177		23	112	23	112	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77542411	77542411	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:77542411C>G	ENST00000461745.1	+	5	1584	c.684C>G	c.(682-684)ctC>ctG	p.L228L	ROBO2_ENST00000487694.3_Silent_p.L244L|ROBO2_ENST00000332191.8_Silent_p.L228L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	228	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.L228L(1)|p.L244L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCACATTTCTCAGGAGGCCAA	0.378																																						uc003dpy.3																			2	Substitution - coding silent(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(682-684)CTC>CTG		roundabout, axon guidance receptor, homolog 2							119.0	107.0	111.0					3																	77542411		1851	4101	5952	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77542411C>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.684C>G	3.37:g.77542411C>G						ROBO2_uc003dpz.2_Silent_p.L228L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.L228L	p.L228L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	5	1327	+			228			Ig-like C2-type 3.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.684C>G	CCDS43109.1																																																																																				PASS	0.378	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		17	131	17	131	---	---	---	---
HTR1F	3355	broad.mit.edu	37	3	88040884	88040884	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:88040884T>C	ENST00000319595.4	+	1	1039	c.985T>C	c.(985-987)Tcc>Ccc	p.S329P		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	329					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S329P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGAAGAAATGTCCAATTTTTT	0.323																																						uc003dqr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(985-987)TCC>CCC		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						59.0	63.0	61.0					3																	88040884		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040884T>C	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.985T>C	3.37:g.88040884T>C	ENSP00000322924:p.Ser329Pro						p.S329P	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	1143	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	329			Extracellular (By similarity).			Missense_Mutation	SNP	ENST00000319595.4	37	c.985T>C	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614162	0.46631	.	.	ENSG00000179097	ENST00000319595	T	0.72394	-0.65	5.54	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.124835	0.56097	D	0.000035	T	0.79598	0.4473	M	0.79011	2.435	0.38575	D	0.950046	D	0.59357	0.985	P	0.58266	0.836	T	0.80137	-0.1508	10	0.39692	T	0.17	.	10.7884	0.46419	0.0:0.0:0.1594:0.8406	.	329	P30939	5HT1F_HUMAN	P	329	ENSP00000322924:S329P	ENSP00000322924:S329P	S	+	1	0	HTR1F	88123574	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.451000	0.60047	0.903000	0.36546	0.455000	0.32223	TCC		PASS	0.323	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		17	71	17	71	---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806130	97806130	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:97806130C>G	ENST00000358642.2	+	1	114	c.114C>G	c.(112-114)ctC>ctG	p.L38L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	38					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L38L(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TGGTCTATCTCATCACCATGG	0.448																																						uc011bgs.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(112-114)CTC>CTG		olfactory receptor, family 5, subfamily AC,							307.0	282.0	291.0					3																	97806130		2203	4300	6503	SO:0001819	synonymous_variant	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806130C>G	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.114C>G	3.37:g.97806130C>G							p.L38L	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	114	+			38			Helical; Name=1; (Potential).			Silent	SNP	ENST00000358642.2	37	c.114C>G	CCDS33796.1																																																																																				PASS	0.448	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			80	408	80	408	---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99514504	99514504	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:99514504G>C	ENST00000261037.3	+	5	2139	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H	COL8A1_ENST00000273342.4_Missense_Mutation_p.D587H	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	587	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)		p.D587H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GTATCTGCCAGATATGGGGCT	0.622																																						uc003dtg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1759-1761)GAT>CAT		alpha 1 type VIII collagen precursor							48.0	48.0	48.0					3																	99514504		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514504G>C	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1759G>C	3.37:g.99514504G>C	ENSP00000261037:p.Asp587His					COL8A1_uc003dth.1_Missense_Mutation_p.D587H|COL8A1_uc003dti.1_Missense_Mutation_p.D588H	p.D587H	NM_001850	NP_001841	P27658	CO8A1_HUMAN			5	2004	+			587			Nonhelical region (NC1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.1759G>C	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314316	0.23908	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.91237	-2.81;-2.81	5.58	5.58	0.84498	.	0.416196	0.27189	N	0.020513	T	0.80160	0.4572	N	0.08118	0	0.31492	N	0.665843	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.76656	-0.2879	10	0.45353	T	0.12	.	10.4902	0.44746	0.0883:0.0:0.9117:0.0	.	588;587	E7EPK9;P27658	.;CO8A1_HUMAN	H	587	ENSP00000261037:D587H;ENSP00000273342:D587H	ENSP00000261037:D587H	D	+	1	0	COL8A1	100997194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.132000	0.64758	2.630000	0.89119	0.563000	0.77884	GAT		PASS	0.622	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		12	90	12	90	---	---	---	---
TOMM70A	9868	broad.mit.edu	37	3	100087936	100087936	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:100087936T>C	ENST00000284320.5	-	10	1944	c.1496A>G	c.(1495-1497)tAt>tGt	p.Y499C		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	499					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.Y499C(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ACATTTATCATACATTTCATC	0.313																																						uc003dtw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1495-1497)TAT>TGT		translocase of outer mitochondrial membrane 70							204.0	191.0	195.0					3																	100087936		2202	4297	6499	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100087936T>C	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1496A>G	3.37:g.100087936T>C	ENSP00000284320:p.Tyr499Cys						p.Y499C	NM_014820	NP_055635	O94826	TOM70_HUMAN			10	1928	-			499			Cytoplasmic (Potential).|TPR 8.		D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.1496A>G	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.305865	0.81247	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.70749	-0.51	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85225	0.5648	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.87786	0.2615	10	0.87932	D	0	-12.3409	15.9599	0.79923	0.0:0.0:0.0:1.0	.	499	O94826	TOM70_HUMAN	C	499;392	ENSP00000284320:Y499C	ENSP00000284320:Y499C	Y	-	2	0	TOMM70A	101570626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.649000	0.83500	2.162000	0.67917	0.533000	0.62120	TAT		PASS	0.313	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			63	109	63	109	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100471741	100471741	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:100471741G>C	ENST00000284322.5	-	33	2988	c.2879C>G	c.(2878-2880)tCa>tGa	p.S960*	ABI3BP_ENST00000383691.4_Nonsense_Mutation_p.S914*|ABI3BP_ENST00000471714.1_Nonsense_Mutation_p.S1662*	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	960					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.S1662*(1)|p.S914*(1)|p.S961*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTTACACTCTGAGTAAGAGTC	0.393																																						uc003dun.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(2878-2880)TCA>TGA		ABI gene family, member 3 (NESH) binding protein							97.0	88.0	91.0					3																	100471741		1852	4099	5951	SO:0001587	stop_gained	25890					extracellular space		g.chr3:100471741G>C	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2879C>G	3.37:g.100471741G>C	ENSP00000284322:p.Ser960*					ABI3BP_uc003duj.2_Nonsense_Mutation_p.S540*|ABI3BP_uc003duk.2_Nonsense_Mutation_p.S669*|ABI3BP_uc003dul.2_Nonsense_Mutation_p.S790*|ABI3BP_uc011bhd.1_Nonsense_Mutation_p.S914*|ABI3BP_uc003dum.2_Nonsense_Mutation_p.S371*	p.S960*	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			33	2964	-			960					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Nonsense_Mutation	SNP	ENST00000284322.5	37	c.2879C>G	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.163159|8.163159	0.98686|0.98686	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|.	0.82586|.	0.5069|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.83295|.	-0.0031|.	3|.	.|0.87932	.|D	.|0	-20.2349|-20.2349	20.547|20.547	0.99278|0.99278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	1016|1662;960;669;371;914	.|.	.|ENSP00000284322:S960X	Q|S	-|-	1|2	0|0	ABI3BP|ABI3BP	101954431|101954431	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.697000|9.697000	0.98697|0.98697	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	CAG|TCA		PASS	0.393	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			25	119	25	119	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100569558	100569558	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:100569558C>G	ENST00000284322.5	-	14	1355	c.1246G>C	c.(1246-1248)Gat>Cat	p.D416H	ABI3BP_ENST00000471714.1_Missense_Mutation_p.D465H|ABI3BP_ENST00000495063.1_Missense_Mutation_p.D465H	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	416					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.D416H(1)|p.D465H(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGGATAGAATCCAGAATACGA	0.328																																						uc003dun.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1246-1248)GAT>CAT		ABI gene family, member 3 (NESH) binding protein							134.0	131.0	132.0					3																	100569558		1813	4068	5881	SO:0001583	missense	25890					extracellular space		g.chr3:100569558C>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1246G>C	3.37:g.100569558C>G	ENSP00000284322:p.Asp416His					ABI3BP_uc003duo.2_Missense_Mutation_p.D458H	p.D416H	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			14	1331	-			416					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1246G>C	CCDS46880.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.1|20.1|20.1	3.938766|3.938766|3.938766	0.73557|0.73557|0.73557	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063|ENST00000459682|ENST00000533855	T;T;T|.|.	0.58797|.|.	0.31;0.31;0.31|.|.	5.86|5.86|5.86	4.98|4.98|4.98	0.66077|0.66077|0.66077	.|.|.	0.263710|.|.	0.42053|.|.	D|.|.	0.000772|.|.	T|T|T	0.64670|0.64670|0.64670	0.2619|0.2619|0.2619	L|L|L	0.56769|0.56769|0.56769	1.78|1.78|1.78	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.76494|.|.	0.999;0.999|.|.	D;P|.|.	0.66351|.|.	0.943;0.887|.|.	T|T|T	0.60429|0.60429|0.60429	-0.7265|-0.7265|-0.7265	10|5|5	0.39692|.|.	T|.|.	0.17|.|.	-8.9727|-8.9727|-8.9727	13.0697|13.0697|13.0697	0.59053|0.59053|0.59053	0.0:0.9261:0.0:0.0739|0.0:0.9261:0.0:0.0739|0.0:0.9261:0.0:0.0739	.|.|.	465;416|.|.	Q5JPC9;Q7Z7G0|.|.	.;TARSH_HUMAN|.|.	H|A|C	465;416;465|41|93	ENSP00000420524:D465H;ENSP00000284322:D416H;ENSP00000433993:D465H|.|.	ENSP00000284322:D416H|.|.	D|G|W	-|-|-	1|2|3	0|0|0	ABI3BP|ABI3BP|ABI3BP	102052248|102052248|102052248	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.987000|0.987000|0.987000	0.75469|0.75469|0.75469	3.208000|3.208000|3.208000	0.51114|0.51114|0.51114	2.937000|2.937000|2.937000	0.99478|0.99478|0.99478	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAT|GGA|TGG		PASS	0.328	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			15	130	15	130	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100992587	100992587	+	Splice_Site	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:100992587C>G	ENST00000193391.7	-	7	854		c.e7-1			NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2						visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.?(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CATTGCTAATCTGAATTTTTA	0.368																																						uc003duq.1																			1	Unknown(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.e7-1		interphotoreceptor matrix proteoglycan 2							96.0	87.0	90.0					3																	100992587		2203	4300	6503	SO:0001630	splice_region_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100992587C>G	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.667-1G>C	3.37:g.100992587C>G						IMPG2_uc011bhe.1_Splice_Site_p.I86_splice	p.I223_splice	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			7	870	-								A8MWT5|Q9UKD4|Q9UKK5	Splice_Site	SNP	ENST00000193391.7	37	c.667_splice	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832562	0.71258	.	.	ENSG00000081148	ENST00000193391	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2178	0.86949	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IMPG2	102475277	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.419000	0.59835	2.804000	0.96469	0.650000	0.86243	.		PASS	0.368	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		Intron	17	79	17	79	---	---	---	---
TRMT10C	54931	broad.mit.edu	37	3	101283965	101283965	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:101283965G>A	ENST00000309922.6	+	2	494	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	114					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.E114K(2)									ACACATCACTGAAGAAGAGCT	0.368																																						uc003duz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(340-342)GAA>AAA		RNA (guanine-9-) methyltransferase domain							77.0	70.0	72.0					3																	101283965		1877	4116	5993	SO:0001583	missense	54931				tRNA processing	mitochondrion	methyltransferase activity|protein binding	g.chr3:101283965G>A	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.340G>A	3.37:g.101283965G>A	ENSP00000312356:p.Glu114Lys						p.E114K	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN			2	488	+			114					Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.340G>A	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458414	0.84317	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.50548	0.74;0.74	5.87	5.87	0.94306	.	0.216036	0.47852	D	0.000204	T	0.49762	0.1576	M	0.68952	2.095	0.41768	D	0.989752	D	0.53151	0.958	P	0.45343	0.477	T	0.44421	-0.9329	10	0.26408	T	0.33	-30.3597	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	114	Q7L0Y3	MRRP1_HUMAN	K	114	ENSP00000312356:E114K;ENSP00000419389:E114K	ENSP00000312356:E114K	E	+	1	0	RG9MTD1	102766655	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.188000	0.72045	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.368	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		27	142	27	142	---	---	---	---
TRAT1	50852	broad.mit.edu	37	3	108572674	108572674	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:108572674C>T	ENST00000295756.6	+	6	741	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	TRAT1_ENST00000426646.1_Missense_Mutation_p.P134S	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	171					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.P171S(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TCATGATGATCCCATCAGACT	0.433																																						uc003dxi.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(511-513)CCC>TCC		T-cell receptor interacting molecule							105.0	107.0	106.0					3																	108572674		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572674C>T	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.511C>T	3.37:g.108572674C>T	ENSP00000295756:p.Pro171Ser					TRAT1_uc010hpx.1_Missense_Mutation_p.P134S	p.P171S	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			6	655	+			171			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.511C>T	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473113	0.84640	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.59224	0.38;0.28	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000006	T	0.75309	0.3832	M	0.69823	2.125	0.43808	D	0.996362	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76990	-0.2754	10	0.87932	D	0	-16.1306	15.6732	0.77295	0.0:1.0:0.0:0.0	.	134;171	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	S	171;134	ENSP00000295756:P171S;ENSP00000410097:P134S	ENSP00000295756:P171S	P	+	1	0	TRAT1	110055364	0.990000	0.36364	0.874000	0.34290	0.982000	0.71751	4.218000	0.58554	2.768000	0.95171	0.655000	0.94253	CCC		PASS	0.433	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		38	214	38	214	---	---	---	---
GUCA1C	9626	broad.mit.edu	37	3	108672423	108672423	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:108672423T>C	ENST00000261047.3	-	1	319	c.187A>G	c.(187-189)Acc>Gcc	p.T63A	GUCA1C_ENST00000471108.1_Missense_Mutation_p.T63A|GUCA1C_ENST00000393963.3_Missense_Mutation_p.T63A	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	63	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.T63A(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTGTCAAAGGTATTATAAACT	0.348																																					NSCLC(157;1360 1999 30631 40189 44208)	uc003dxj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)ACC>GCC		guanylate cyclase activator 1C							133.0	142.0	139.0					3																	108672423		2203	4300	6503	SO:0001583	missense	9626				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr3:108672423T>C	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"""EF-hand domain containing"""	4680	protein-coding gene	gene with protein product	"""guanylyl cyclase-activating protein 3"""	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.187A>G	3.37:g.108672423T>C	ENSP00000261047:p.Thr63Ala					GUCA1C_uc003dxk.2_Missense_Mutation_p.T63A	p.T63A	NM_005459	NP_005450	O95843	GUC1C_HUMAN			1	255	-			63			EF-hand 2.		O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	c.187A>G	CCDS2954.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635592	0.47049	.	.	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	T;T;T	0.41065	1.01;1.01;1.01	5.48	4.33	0.51752	EF-hand-like domain (1);	0.203452	0.50627	D	0.000101	T	0.47544	0.1451	L	0.33624	1.015	0.42913	D	0.994266	D;P	0.71674	0.998;0.539	D;B	0.66716	0.946;0.039	T	0.38045	-0.9679	10	0.35671	T	0.21	.	9.0725	0.36502	0.0:0.089:0.0:0.911	.	63;63	C9JNI2;O95843	.;GUC1C_HUMAN	A	63	ENSP00000377535:T63A;ENSP00000261047:T63A;ENSP00000417761:T63A	ENSP00000261047:T63A	T	-	1	0	GUCA1C	110155113	1.000000	0.71417	0.982000	0.44146	0.872000	0.50106	2.224000	0.42945	1.030000	0.39839	0.528000	0.53228	ACC		PASS	0.348	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		42	202	42	202	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108776334	108776334	+	Splice_Site	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:108776334C>T	ENST00000483760.1	-	13	1075		c.e13-1		MORC1_ENST00000232603.5_Splice_Site					MORC family CW-type zinc finger 1									p.?(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTAATTCTCTAGAGTTACA	0.328																																						uc003dxl.2																			1	Unknown(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.e13-1		MORC family CW-type zinc finger 1							66.0	60.0	62.0					3																	108776334		2203	4300	6503	SO:0001630	splice_region_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108776334C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1032-1G>A	3.37:g.108776334C>T						MORC1_uc011bhn.1_Splice_Site_p.R344_splice	p.R344_splice	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			13	1119	-									Splice_Site	SNP	ENST00000483760.1	37	c.1032_splice		.	.	.	.	.	.	.	.	.	.	C	11.88	1.771569	0.31320	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6134	0.33817	0.0:0.897:0.0:0.103	.	.	.	.	.	-1	.	.	.	-	.	.	MORC1	110259024	1.000000	0.71417	1.000000	0.80357	0.378000	0.30076	3.805000	0.55575	2.466000	0.83321	0.650000	0.86243	.		PASS	0.328	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		Intron	42	100	42	100	---	---	---	---
SPICE1	152185	broad.mit.edu	37	3	113222068	113222068	+	Missense_Mutation	SNP	C	C	A	rs141190252		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:113222068C>A	ENST00000295872.4	-	3	365	c.106G>T	c.(106-108)Gtg>Ttg	p.V36L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	36					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.V36M(2)|p.V36L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGATCAGTCACGGTATTCTGT	0.299																																						uc003eag.3																			4	Substitution - Missense(4)		lung(2)|endometrium(2)		0						c.(106-108)GTG>TTG		coiled-coil domain containing 52							49.0	51.0	50.0					3																	113222068		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113222068C>A	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.106G>T	3.37:g.113222068C>A	ENSP00000295872:p.Val36Leu					CCDC52_uc003eaf.3_RNA|CCDC52_uc011bie.1_Missense_Mutation_p.V48L|CCDC52_uc003eai.1_Missense_Mutation_p.V36L	p.V36L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			3	397	-			36					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.106G>T	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615487	0.46631	.	.	ENSG00000163611	ENST00000295872;ENST00000495812;ENST00000480527	T	0.52057	0.68	5.61	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	M	0.77103	2.36	0.49915	D	0.999838	D;P	0.76494	0.999;0.704	D;B	0.79784	0.993;0.395	T	0.68671	-0.5347	10	0.72032	D	0.01	-2.3406	8.7524	0.34626	0.0:0.8289:0.0:0.1711	.	48;36	B4DJN7;Q8N0Z3	.;SPICE_HUMAN	L	36	ENSP00000295872:V36L	ENSP00000295872:V36L	V	-	1	0	SPICE1	114704758	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	2.048000	0.41278	1.386000	0.46466	0.591000	0.81541	GTG		PASS	0.299	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		8	65	8	65	---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119134125	119134125	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:119134125G>T	ENST00000264245.4	+	12	3881	c.3349G>T	c.(3349-3351)Gac>Tac	p.D1117Y		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1117					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.D1117Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCCCATTGCTGACCTCTTCTG	0.517																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3349-3351)GAC>TAC		Cdc42 GTPase-activating protein							121.0	120.0	120.0					3																	119134125		1971	4166	6137	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134125G>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3349G>T	3.37:g.119134125G>T	ENSP00000264245:p.Asp1117Tyr						p.D1117Y	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3881	+			1117					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3349G>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384286	0.61845	.	.	ENSG00000031081	ENST00000264245	T	0.10005	2.92	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000010	T	0.32852	0.0843	M	0.65975	2.015	0.54753	D	0.999989	D	0.89917	1.0	D	0.68192	0.956	T	0.00728	-1.1591	10	0.87932	D	0	.	18.6399	0.91392	0.0:0.0:1.0:0.0	.	1117	Q2M1Z3	RHG31_HUMAN	Y	1117	ENSP00000264245:D1117Y	ENSP00000264245:D1117Y	D	+	1	0	ARHGAP31	120616815	0.996000	0.38824	0.993000	0.49108	0.964000	0.63967	3.437000	0.52863	2.871000	0.98454	0.655000	0.94253	GAC		PASS	0.517	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			39	173	39	173	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121416258	121416258	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:121416258C>G	ENST00000340645.5	-	13	3222	c.3097G>C	c.(3097-3099)Gag>Cag	p.E1033Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E1038Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1033					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1033*(1)|p.E1033Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTCCCCTCTCAGTCTCACTG	0.343																																						uc003eei.3																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		urinary_tract(1)|lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(3097-3099)GAG>CAG		golgi autoantigen, golgin subfamily b,							76.0	81.0	79.0					3																	121416258		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121416258C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3097G>C	3.37:g.121416258C>G	ENSP00000341848:p.Glu1033Gln					GOLGB1_uc010hrc.2_Missense_Mutation_p.E1038Q|GOLGB1_uc003eej.3_Missense_Mutation_p.E999Q|GOLGB1_uc011bjm.1_Missense_Mutation_p.E919Q|GOLGB1_uc010hrd.1_Missense_Mutation_p.E997Q	p.E1033Q	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	3223	-			1033			Cytoplasmic (Potential).		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.3097G>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	9.602	1.129030	0.21041	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.25414	2.4;2.4;1.8	5.53	5.53	0.82687	.	0.211440	0.33631	N	0.004702	T	0.24198	0.0586	N	0.22421	0.69	0.09310	N	0.999999	P;D;P;P;P	0.53151	0.779;0.958;0.93;0.93;0.882	P;P;P;P;P	0.49226	0.447;0.491;0.603;0.603;0.447	T	0.15607	-1.0431	10	0.13470	T	0.59	.	17.004	0.86388	0.0:1.0:0.0:0.0	.	958;997;1038;1038;1033	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	Q	1033;1038;997;845	ENSP00000341848:E1033Q;ENSP00000377275:E1038Q;ENSP00000418231:E997Q	ENSP00000341848:E1033Q	E	-	1	0	GOLGB1	122898948	0.009000	0.17119	0.768000	0.31515	0.469000	0.32828	1.653000	0.37323	2.882000	0.98803	0.655000	0.94253	GAG		PASS	0.343	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		11	263	11	263	---	---	---	---
TPRA1	131601	broad.mit.edu	37	3	127294892	127294892	+	Splice_Site	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:127294892C>A	ENST00000355552.3	-	7	876	c.500G>T	c.(499-501)gGg>gTg	p.G167V	TPRA1_ENST00000465915.1_5'Flank|TPRA1_ENST00000489960.1_Splice_Site_p.G167V|TPRA1_ENST00000450633.2_Splice_Site_p.G167V|TPRA1_ENST00000296210.7_Splice_Site_p.G167V	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	167					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.G167V(1)		endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						CTCCAGGGTCCCCTGCAGGGG	0.587																																						uc003ejl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)GGG>GTG		G protein-coupled receptor 175 isoform 1							23.0	26.0	25.0					3																	127294892		2203	4299	6502	SO:0001630	splice_region_variant	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127294892C>A	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.499-1G>T	3.37:g.127294892C>A						TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Missense_Mutation_p.G167V|TPRA1_uc010hsk.2_Missense_Mutation_p.G167V|TPRA1_uc003ejn.2_Missense_Mutation_p.G167V	p.G167V	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN			6	791	-			167			Helical; Name=4; (Potential).		A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Missense_Mutation	SNP	ENST00000355552.3	37	c.500G>T	CCDS3042.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336360	0.60963	.	.	ENSG00000163870	ENST00000450633;ENST00000296210;ENST00000355552;ENST00000489960;ENST00000490290;ENST00000469111	.	.	.	4.75	4.75	0.60458	.	0.051257	0.85682	D	0.000000	T	0.71995	0.3406	L	0.55743	1.74	0.80722	D	1	D;P	0.69078	0.997;0.898	P;P	0.58721	0.844;0.686	T	0.73594	-0.3933	9	0.46703	T	0.11	-22.6251	17.7418	0.88409	0.0:1.0:0.0:0.0	.	167;167	Q86W33-3;Q86W33	.;TPRA1_HUMAN	V	167	.	ENSP00000296210:G167V	G	-	2	0	TPRA1	128777582	1.000000	0.71417	0.977000	0.42913	0.528000	0.34623	7.258000	0.78371	2.179000	0.69175	0.313000	0.20887	GGG		PASS	0.587	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372	Missense_Mutation	5	42	5	42	---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130735088	130735088	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:130735088C>T	ENST00000264992.3	-	5	2050	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	ATP2C1_ENST00000422190.2_Silent_p.V939V|ATP2C1_ENST00000513801.1_Silent_p.V923V|ATP2C1_ENST00000393221.4_Silent_p.V973V|ATP2C1_ENST00000504381.1_Silent_p.V894V|ATP2C1_ENST00000359644.3_Silent_p.V949V|ATP2C1_ENST00000533801.2_Silent_p.V944V|ATP2C1_ENST00000507488.2_Silent_p.V923V|ATP2C1_ENST00000328560.8_3'UTR|ASTE1_ENST00000514044.1_Missense_Mutation_p.D537N	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	537					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.V949V(1)|p.D537N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TGAGCTGTGTCTAAGTCCAGT	0.522																																						uc003env.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(1609-1611)GAC>AAC		asteroid homolog 1							189.0	164.0	172.0					3																	130735088		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130735088C>T	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1609G>A	3.37:g.130735088C>T	ENSP00000264992:p.Asp537Asn					ATP2C1_uc011blh.1_Silent_p.V944V|ATP2C1_uc011bli.1_Silent_p.V973V|ATP2C1_uc003enm.2_3'UTR|ATP2C1_uc003enn.2_Silent_p.V923V|ATP2C1_uc003enp.2_3'UTR|ATP2C1_uc003enr.2_3'UTR|ATP2C1_uc003ens.2_Silent_p.V949V|ATP2C1_uc003ent.2_Silent_p.V939V|ASTE1_uc010htm.1_Missense_Mutation_p.D537N|ASTE1_uc011blj.1_RNA	p.D537N	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN			5	2051	-			537					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.1609G>A	CCDS3068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.664109|4.664109	0.88251|0.88251	.|.	.|.	ENSG00000034533|ENSG00000017260	ENST00000514044;ENST00000264992|ENST00000504612	.|.	.|.	.|.	5.71|5.71	4.83|4.83	0.62350|0.62350	.|.	0.180265|.	0.64402|.	D|.	0.000012|.	T|T	0.72526|0.72526	0.3471|0.3471	.|.	.|.	.|.	0.40473|0.40473	D|D	0.980367|0.980367	D;D|.	0.65815|.	0.995;0.995|.	P;P|.	0.56398|.	0.797;0.797|.	T|T	0.73357|0.73357	-0.4008|-0.4008	8|4	0.45353|.	T|.	0.12|.	-16.081|-16.081	16.4373|16.4373	0.83880|0.83880	0.0:0.8683:0.1317:0.0|0.0:0.8683:0.1317:0.0	.|.	537;537|.	D6RG30;Q2TB18|.	.;ASTE1_HUMAN|.	N|F	537|903	.|.	ENSP00000264992:D537N|.	D|S	-|+	1|2	0|0	ASTE1|ATP2C1	132217778|132217778	0.975000|0.975000	0.34042|0.34042	0.161000|0.161000	0.22692|0.22692	0.099000|0.099000	0.18886|0.18886	4.493000|4.493000	0.60341|0.60341	1.400000|1.400000	0.46741|0.46741	0.655000|0.655000	0.94253|0.94253	GAC|TCT		PASS	0.522	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		24	174	24	174	---	---	---	---
RAB6B	51560	broad.mit.edu	37	3	133547652	133547652	+	Missense_Mutation	SNP	C	C	G	rs373337169		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:133547652C>G	ENST00000285208.4	-	8	956	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	RAB6B_ENST00000486858.1_Missense_Mutation_p.E190Q|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Missense_Mutation_p.E203Q	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	203					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.E203Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						CAGCCGCCCTCGCTGGCCGGG	0.597																																						uc003epy.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(607-609)GAG>CAG		RAB6B, member RAS oncogene family		C	GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	138.0	158.0	151.0		607	5.9	1.0	3		151	0,8600		0,0,4300	no	missense	RAB6B	NM_016577.3	29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign	203/209	133547652	1,13005	2203	4300	6503	SO:0001583	missense	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133547652C>G	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.607G>C	3.37:g.133547652C>G	ENSP00000285208:p.Glu203Gln					RAB6B_uc011blu.1_Missense_Mutation_p.E190Q	p.E203Q	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN			8	988	-			203					B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	c.607G>C	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915946	0.52546	2.27E-4	0.0	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858	T;T;T	0.61627	0.09;0.09;0.28	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	N	0.24115	0.695	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.14023	0.01;0.004	T	0.37384	-0.9708	10	0.09338	T	0.73	-0.6051	19.1662	0.93559	0.0:1.0:0.0:0.0	.	190;203	B7Z337;Q9NRW1	.;RAB6B_HUMAN	Q	203;203;190	ENSP00000285208:E203Q;ENSP00000437797:E203Q;ENSP00000419381:E190Q	ENSP00000285208:E203Q	E	-	1	0	RAB6B	135030342	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.194000	0.58393	2.831000	0.97527	0.561000	0.74099	GAG		PASS	0.597	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			47	296	47	296	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134960004	134960004	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:134960004T>C	ENST00000398015.3	+	13	2731	c.2361T>C	c.(2359-2361)ccT>ccC	p.P787P	EPHB1_ENST00000493838.1_Silent_p.P348P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	787	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.P787P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGAAGATCCCTGTGAGATGGA	0.502																																						uc003eqt.2																			2	Substitution - coding silent(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2359-2361)CCT>CCC		ephrin receptor EphB1 precursor							109.0	112.0	111.0					3																	134960004		2081	4245	6326	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134960004T>C	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2361T>C	3.37:g.134960004T>C						EPHB1_uc003equ.2_Silent_p.P348P	p.P787P	NM_004441	NP_004432	P54762	EPHB1_HUMAN			13	2581	+			787			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2361T>C	CCDS46921.1																																																																																				PASS	0.502	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		26	173	26	173	---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135721224	135721224	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:135721224A>T	ENST00000264977.3	+	2	1501	c.884A>T	c.(883-885)gAa>gTa	p.E295V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	295					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.E295V(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTACCATTTGAATTCATGCAG	0.388																																						uc003eqv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(883-885)GAA>GTA		protein phosphatase 2, regulatory subunit B'',							100.0	97.0	98.0					3																	135721224		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721224A>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.884A>T	3.37:g.135721224A>T	ENSP00000264977:p.Glu295Val					PPP2R3A_uc011blz.1_Intron	p.E295V	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	1449	+			295					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.884A>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352389	0.61293	.	.	ENSG00000073711	ENST00000264977	T	0.27402	1.67	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56456	-0.7976	10	0.87932	D	0	.	14.5059	0.67752	1.0:0.0:0.0:0.0	.	295	Q06190	P2R3A_HUMAN	V	295	ENSP00000264977:E295V	ENSP00000264977:E295V	E	+	2	0	PPP2R3A	137203914	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.957000	0.93082	2.010000	0.58986	0.533000	0.62120	GAA		PASS	0.388	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		38	143	38	143	---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138189849	138189849	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:138189849C>T	ENST00000389567.4	+	17	1907	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	574					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.S574F(2)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AGCCTCATCTCCATGAGGCTG	0.597																																						uc003esk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1720-1722)TCC>TTC		family with sequence similarity 62 (C2 domain							81.0	83.0	82.0					3																	138189849		1939	4146	6085	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138189849C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1721C>T	3.37:g.138189849C>T	ENSP00000374218:p.Ser574Phe					ESYT3_uc010hug.2_RNA	p.S574F	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN			17	1947	+			574					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.1721C>T	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685967	0.68157	.	.	ENSG00000158220	ENST00000389567	T	0.71698	-0.59	4.93	4.93	0.64822	C2 calcium/lipid-binding domain, CaLB (1);	0.179557	0.35708	N	0.003037	T	0.75243	0.3823	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.69243	-0.5196	10	0.13853	T	0.58	-8.0086	13.5262	0.61597	0.0:1.0:0.0:0.0	.	574	A0FGR9	ESYT3_HUMAN	F	574	ENSP00000374218:S574F	ENSP00000374218:S574F	S	+	2	0	ESYT3	139672539	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.053000	0.57427	2.565000	0.86533	0.561000	0.74099	TCC		PASS	0.597	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		35	178	35	178	---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138407817	138407817	+	Splice_Site	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:138407817C>A	ENST00000477593.1	-	15	2110		c.e15-1		PIK3CB_ENST00000289153.2_Splice_Site|PIK3CB_ENST00000544716.1_Splice_Site			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta						activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.?(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CACTTCTGACCTGCAGAAAGT	0.388																																						uc011bmq.1																			1	Unknown(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.e14-1		catalytic phosphatidylinositol 3-kinase beta							79.0	70.0	73.0					3																	138407817		2203	4300	6503	SO:0001630	splice_region_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138407817C>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2037-1G>T	3.37:g.138407817C>A						PIK3CB_uc011bmn.1_Splice_Site_p.R191_splice|PIK3CB_uc011bmo.1_Splice_Site_p.R125_splice|PIK3CB_uc011bmp.1_Splice_Site_p.R266_splice	p.R679_splice	NM_006219	NP_006210	P42338	PK3CB_HUMAN			14	2037	-								D3DNF0|Q24JU2	Splice_Site	SNP	ENST00000477593.1	37	c.2037_splice	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492381	0.84962	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000493568;ENST00000289153	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2063	0.93732	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3CB	139890507	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.720000	0.84759	2.592000	0.87571	0.655000	0.94253	.		PASS	0.388	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		Intron	14	53	14	53	---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142166720	142166720	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:142166720C>G	ENST00000264951.4	-	1	184	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000463916.1_Missense_Mutation_p.E23Q|XRN1_ENST00000465074.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.E23Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	23					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E23Q(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACCTGATGCTCTTTCACCACT	0.587																																						uc003eus.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(67-69)GAG>CAG		5'-3' exoribonuclease 1 isoform a							104.0	101.0	102.0					3																	142166720		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142166720C>G	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.67G>C	3.37:g.142166720C>G	ENSP00000264951:p.Glu23Gln					XRN1_uc003eut.2_Missense_Mutation_p.E23Q|XRN1_uc003euu.2_Missense_Mutation_p.E23Q|XRN1_uc003euw.2_Missense_Mutation_p.E23Q|XRN1_uc011bnh.1_5'UTR	p.E23Q	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			1	134	-			23					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.67G>C	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707700	0.68615	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	T;T	0.35236	1.32;1.33	4.31	4.31	0.51392	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	M	0.84846	2.72	0.80722	D	1	D;P;P	0.89917	1.0;0.855;0.88	D;P;P	0.72075	0.976;0.848;0.906	T	0.71839	-0.4471	10	0.62326	D	0.03	-10.3357	16.9669	0.86288	0.0:1.0:0.0:0.0	.	23;23;23	Q8IZH2-3;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	Q	23	ENSP00000264951:E23Q;ENSP00000376707:E23Q	ENSP00000264951:E23Q	E	-	1	0	XRN1	143649410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.651000	0.67951	2.235000	0.73313	0.655000	0.94253	GAG		PASS	0.587	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		25	238	25	238	---	---	---	---
ATR	545	broad.mit.edu	37	3	142215323	142215323	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:142215323C>G	ENST00000350721.4	-	34	5899	c.5778G>C	c.(5776-5778)caG>caC	p.Q1926H	ATR_ENST00000383101.3_Missense_Mutation_p.Q1862H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1926	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q1926H(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCCTGGCACTCTGCAGCCAGC	0.473								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(5776-5778)CAG>CAC	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							148.0	124.0	132.0					3																	142215323		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142215323C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5778G>C	3.37:g.142215323C>G	ENSP00000343741:p.Gln1926His						p.Q1926H	NM_001184	NP_001175	Q13535	ATR_HUMAN			34	5900	-			1926			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.5778G>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378429	0.61735	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.69926	-0.44;-0.44	5.78	4.87	0.63330	PIK-related kinase (1);Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.79417	-0.1812	10	0.59425	D	0.04	-11.3106	8.6875	0.34247	0.0:0.763:0.0:0.237	.	1926	Q13535	ATR_HUMAN	H	1926;1862	ENSP00000343741:Q1926H;ENSP00000372581:Q1862H	ENSP00000343741:Q1926H	Q	-	3	2	ATR	143698013	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.356000	0.34079	1.354000	0.45846	-0.345000	0.07892	CAG		PASS	0.473	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		27	124	27	124	---	---	---	---
ATR	545	broad.mit.edu	37	3	142224118	142224118	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:142224118C>G	ENST00000350721.4	-	29	5180	c.5059G>C	c.(5059-5061)Gat>Cat	p.D1687H	ATR_ENST00000383101.3_Missense_Mutation_p.D1623H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1687	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D1687H(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCCACTCCATCAGGTTCATGC	0.388								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(5059-5061)GAT>CAT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							180.0	181.0	181.0					3																	142224118		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142224118C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5059G>C	3.37:g.142224118C>G	ENSP00000343741:p.Asp1687His						p.D1687H	NM_001184	NP_001175	Q13535	ATR_HUMAN			29	5181	-			1687			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.5059G>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813677	0.90790	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.50813	0.73;0.73	5.54	5.54	0.83059	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81221	-0.1031	10	0.87932	D	0	-20.5386	19.4874	0.95035	0.0:1.0:0.0:0.0	.	1687	Q13535	ATR_HUMAN	H	1687;1623	ENSP00000343741:D1687H;ENSP00000372581:D1623H	ENSP00000343741:D1687H	D	-	1	0	ATR	143706808	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.586000	0.87340	0.655000	0.94253	GAT		PASS	0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		145	376	145	376	---	---	---	---
IQCJ	654502	broad.mit.edu	37	3	158980417	158980417	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:158980417C>G	ENST00000451172.1	+	4	341	c.236C>G	c.(235-237)tCa>tGa	p.S79*	IQCJ-SCHIP1_ENST00000476809.1_Nonsense_Mutation_p.S52*|IQCJ_ENST00000482126.1_Nonsense_Mutation_p.S52*|IQCJ-SCHIP1_ENST00000485419.1_Nonsense_Mutation_p.S79*|IQCJ_ENST00000397832.2_Nonsense_Mutation_p.S79*|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	79								p.S79*(3)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TCTGTCTCCTCAGAGAAGCTG	0.532																																						uc003fcq.1																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(235-237)TCA>TGA		schwannomin interacting protein 1							96.0	98.0	98.0					3																	158980417		2006	4157	6163	SO:0001587	stop_gained	29970					cytoplasm	identical protein binding|protein binding	g.chr3:158980417C>G	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.236C>G	3.37:g.158980417C>G	ENSP00000402153:p.Ser79*					SCHIP1_uc003fcr.1_5'UTR|IQCJ_uc003fco.2_Nonsense_Mutation_p.S79*|IQCJ_uc010hvy.1_Nonsense_Mutation_p.S52*|IQCJ_uc003fcp.1_Nonsense_Mutation_p.S79*	p.S79*	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		4	341	+			Error:Variant_position_missing_in_Q9P0W5_after_alignment					B7ZMM2|B9EH97|Q1A5X5	Nonsense_Mutation	SNP	ENST00000451172.1	37	c.236C>G	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509178	0.44660	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000214216;ENSG00000214216;ENSG00000214216	ENST00000476809;ENST00000485419;ENST00000483486;ENST00000481715;ENST00000488898;ENST00000397832;ENST00000451172;ENST00000482126	.	.	.	5.41	4.54	0.55810	.	0.000000	0.48767	U	0.000167	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.0541	0.58969	0.0:0.921:0.0:0.0789	.	.	.	.	X	52;79;79;52;50;79;79;52	.	ENSP00000380932:S79X	S	+	2	0	IQCJ-SCHIP1;IQCJ	160463111	1.000000	0.71417	0.958000	0.39756	0.337000	0.28794	6.992000	0.76238	1.284000	0.44531	-0.136000	0.14681	TCA		PASS	0.532	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		10	199	10	199	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160132222	160132222	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:160132222G>C	ENST00000357388.3	+	9	1640	c.1189G>C	c.(1189-1191)Gat>Cat	p.D397H	SMC4_ENST00000360111.2_Missense_Mutation_p.D397H|SMC4_ENST00000462787.1_Missense_Mutation_p.D397H|SMC4_ENST00000469762.1_Missense_Mutation_p.D372H|SMC4_ENST00000344722.5_Missense_Mutation_p.D397H|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	397					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.D397H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGATTTGGAAGATGTTCAAGT	0.284																																						uc003fdh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1189-1191)GAT>CAT		SMC4 structural maintenance of chromosomes							38.0	39.0	39.0					3																	160132222		2203	4295	6498	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160132222G>C	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1189G>C	3.37:g.160132222G>C	ENSP00000349961:p.Asp397His					IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.D397H|SMC4_uc010hwc.1_Missense_Mutation_p.D161H|SMC4_uc003fdi.2_Missense_Mutation_p.D372H|SMC4_uc003fdj.2_Missense_Mutation_p.D397H|SMC4_uc010hwd.2_Missense_Mutation_p.D397H|SMC4_uc003fdl.2_Missense_Mutation_p.D100H	p.D397H	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		9	1302	+			397			Potential.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.1189G>C	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987867	0.74589	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000392788;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000344722	T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;0.18;-0.86;-0.86	5.49	5.49	0.81192	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.88370	0.6418	M	0.86805	2.84	0.80722	D	1	D;B;D;D	0.89917	1.0;0.347;1.0;1.0	D;B;D;D	0.97110	0.986;0.378;1.0;0.989	D	0.88171	0.2864	10	0.42905	T	0.14	-29.5989	19.39	0.94576	0.0:0.0:1.0:0.0	.	397;372;372;397	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	397;397;397;372;397;397;397	ENSP00000349961:D397H;ENSP00000353225:D397H;ENSP00000417964:D372H;ENSP00000420121:D397H;ENSP00000420734:D397H;ENSP00000341382:D397H	ENSP00000341382:D397H	D	+	1	0	SMC4	161614916	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.036000	0.93758	2.583000	0.87209	0.650000	0.86243	GAT		PASS	0.284	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			14	115	14	115	---	---	---	---
PDCD10	11235	broad.mit.edu	37	3	167413428	167413428	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:167413428G>A	ENST00000392750.2	-	6	768	c.351C>T	c.(349-351)atC>atT	p.I117I	PDCD10_ENST00000473645.2_Silent_p.I117I|PDCD10_ENST00000497056.2_Silent_p.I117I|PDCD10_ENST00000471885.1_Silent_p.I117I|PDCD10_ENST00000461494.1_Silent_p.I117I|PDCD10_ENST00000470131.1_Silent_p.I117I|PDCD10_ENST00000487947.2_Silent_p.I117I|PDCD10_ENST00000492396.1_Silent_p.I54I	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	117					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.I117I(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TCTCATCTGGGATCTTACTGA	0.358																																						uc003fex.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)	2	GRCh37	CI082280	PDCD10	I		c.(349-351)ATC>ATT		programmed cell death 10							247.0	241.0	243.0					3																	167413428		2203	4300	6503	SO:0001819	synonymous_variant	11235	Familial_Cerebral_Cavernous_Angioma			angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167413428G>A	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.351C>T	3.37:g.167413428G>A						PDCD10_uc003fez.2_Silent_p.I117I|PDCD10_uc003fey.2_Silent_p.I117I	p.I117I	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN			6	749	-			117					A8K515|D3DNN5|O14811	Silent	SNP	ENST00000392750.2	37	c.351C>T	CCDS3202.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254142	0.22965	.	.	ENSG00000114209	ENST00000479121	.	.	.	5.83	4.95	0.65309	.	.	.	.	.	T	0.56441	0.1985	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55354	-0.8154	4	.	.	.	-19.7789	6.6103	0.22747	0.3084:0.0:0.6916:0.0	.	.	.	.	S	98	.	.	P	-	1	0	PDCD10	168896122	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.352000	0.34033	1.440000	0.47531	0.655000	0.94253	CCC		PASS	0.358	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		77	266	77	266	---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170219054	170219055	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:170219054_170219055CC>AA	ENST00000231706.5	-	3	699_700	c.384_385GG>TT	c.(382-387)ggGGaa>ggTTaa	p.E129*	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	129					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.E129*(2)|p.G128G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCCACAAATTCCCCAACAGTGA	0.53																																						uc003fgz.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(385-387)GAA>TAA|c.(382-384)GGG>GGT		solute carrier family 7 (cationic amino acid																																				SO:0001587	stop_gained	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170219054C>A|g.chr3:170219055C>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.384_385delinsAA	3.37:g.170219054_170219055delinsAA	ENSP00000231706:p.Glu129*					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.E129*|p.G128G	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		3	701|700	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		129|128			Helical; (Potential).		B3KV33|Q9HCF9	Nonsense_Mutation|Silent	SNP	ENST00000231706.5	37	c.385G>T|c.384G>T	CCDS33892.1																																																																																				PASS	0.530	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		5	49|50	5	49	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	175520973	175520973	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:175520973C>G	ENST00000454872.1	+	14	2498	c.2370C>G	c.(2368-2370)gtC>gtG	p.V790V		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	790						integral component of membrane (GO:0016021)		p.V790V(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCAAGAGTGTCTTGGATGGGA	0.378																																						uc003fit.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	pancreas(1)	1						c.(2368-2370)GTC>GTG		N-acetylated alpha-linked acidic dipeptidase 2							97.0	91.0	93.0					3																	175520973		1825	4072	5897	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175520973C>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2370C>G	3.37:g.175520973C>G							p.V790V	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	14	2457	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	790			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.2370C>G	CCDS46960.1																																																																																				PASS	0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		12	63	12	63	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		PASS	0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			11	100	11	100	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179537695	179537695	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:179537695C>G	ENST00000467460.1	-	9	1222	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	PEX5L_ENST00000468741.1_Missense_Mutation_p.E106Q|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E274Q|PEX5L_ENST00000464614.1_Missense_Mutation_p.E190Q|PEX5L_ENST00000392649.3_Missense_Mutation_p.E190Q|PEX5L_ENST00000476138.1_Missense_Mutation_p.E255Q|PEX5L_ENST00000485199.1_Missense_Mutation_p.E263Q|PEX5L_ENST00000263962.8_Missense_Mutation_p.E296Q|PEX5L_ENST00000472994.1_Missense_Mutation_p.E239Q	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	298					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.E298Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCTTGGTTCTCAGATATCCAG	0.438																																						uc003fki.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(892-894)GAG>CAG		peroxisomal biogenesis factor 5-like							249.0	219.0	229.0					3																	179537695		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179537695C>G	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.892G>C	3.37:g.179537695C>G	ENSP00000419975:p.Glu298Gln					PEX5L_uc011bqd.1_Missense_Mutation_p.E255Q|PEX5L_uc011bqe.1_Missense_Mutation_p.E106Q|PEX5L_uc011bqf.1_Missense_Mutation_p.E190Q|PEX5L_uc003fkj.1_Missense_Mutation_p.E263Q|PEX5L_uc010hxd.1_Missense_Mutation_p.E296Q|PEX5L_uc011bqg.1_Missense_Mutation_p.E274Q|PEX5L_uc011bqh.1_Missense_Mutation_p.E239Q	p.E298Q	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		9	1022	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		298					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.892G>C	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018503	0.93404	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.44;-2.4;-2.44;-2.45;-2.45;-2.4;-2.46	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.93956	0.8065	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D	0.71674	0.993;0.993;0.998;0.998;0.99;0.997	D;D;D;D;P;P	0.72982	0.979;0.979;0.954;0.943;0.858;0.879	D	0.94241	0.7485	10	0.87932	D	0	-22.5765	19.389	0.94573	0.0:1.0:0.0:0.0	.	239;274;190;296;263;298	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	Q	298;296;263;296;190;106;255;186;239;190;274	ENSP00000419975:E298Q;ENSP00000263962:E296Q;ENSP00000418440:E263Q;ENSP00000376420:E190Q;ENSP00000418665:E106Q;ENSP00000420555:E255Q;ENSP00000418054:E239Q;ENSP00000417270:E190Q;ENSP00000419348:E274Q	ENSP00000263962:E296Q	E	-	1	0	PEX5L	181020389	1.000000	0.71417	0.974000	0.42286	0.951000	0.60555	7.185000	0.77714	2.593000	0.87608	0.655000	0.94253	GAG		PASS	0.438	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		6	188	6	188	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	182925608	182925608	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:182925608C>A	ENST00000328913.3	-	23	2797	c.2500G>T	c.(2500-2502)Gat>Tat	p.D834Y	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D834Y|MCF2L2_ENST00000468976.1_5'Flank	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	834	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D834Y(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTTCCAATATCGTCCTTTTGG	0.388																																						uc003fli.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(2500-2502)GAT>TAT		Rho family guanine-nucleotide exchange factor							74.0	71.0	72.0					3																	182925608		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182925608C>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2500G>T	3.37:g.182925608C>A	ENSP00000328118:p.Asp834Tyr						p.D834Y	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		23	2590	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		834			PH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2500G>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076216	0.55646	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.13089	2.62;2.62	4.86	3.98	0.46160	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.200530	0.42053	D	0.000776	T	0.32882	0.0844	M	0.73598	2.24	0.22842	N	0.998662	D	0.76494	0.999	D	0.69654	0.965	T	0.08106	-1.0738	10	0.87932	D	0	.	9.2983	0.37829	0.0:0.8987:0.0:0.1013	.	834	Q86YR7	MF2L2_HUMAN	Y	834	ENSP00000328118:D834Y;ENSP00000420070:D834Y	ENSP00000328118:D834Y	D	-	1	0	MCF2L2	184408302	0.908000	0.30866	0.027000	0.17364	0.448000	0.32197	2.224000	0.42945	1.162000	0.42619	0.491000	0.48974	GAT		PASS	0.388	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		10	71	10	71	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																						uc011bsp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(931-933)CAG>GAG		hypothetical protein LOC151963							34.0	35.0	34.0					3																	192516720		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516720G>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>G	3.37:g.192516720G>C	ENSP00000376246:p.Gln311Glu						p.Q311E	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1252	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		311					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.931C>G	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453077	0.43531	.	.	ENSG00000180611	ENST00000392452	T	0.07800	3.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.51422	1.61	0.80722	D	1	P	0.46784	0.884	B	0.42959	0.403	T	0.07102	-1.0790	10	0.05351	T	0.99	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	311	Q8IYB1	M21D2_HUMAN	E	311	ENSP00000376246:Q311E	ENSP00000376246:Q311E	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG		PASS	0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		7	85	7	85	---	---	---	---
NRROS	375387	broad.mit.edu	37	3	196386967	196386967	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:196386967C>T	ENST00000328557.4	+	3	656	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	151					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L151L(1)									TGGCAGCCCTCATGCTCCAGA	0.672																																						uc003fwv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(451-453)CTC>CTT		leucine rich repeat containing 33 precursor							30.0	31.0	31.0					3																	196386967		2203	4300	6503	SO:0001819	synonymous_variant	375387					integral to membrane		g.chr3:196386967C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.453C>T	3.37:g.196386967C>T							p.L151L	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	557	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		151			Extracellular (Potential).|LRR 4.			Silent	SNP	ENST00000328557.4	37	c.453C>T	CCDS3319.1																																																																																				PASS	0.672	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		7	37	7	37	---	---	---	---
UVSSA	57654	broad.mit.edu	37	4	1341946	1341946	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:1341946G>C	ENST00000389851.4	+	2	514	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	UVSSA_ENST00000507531.1_Missense_Mutation_p.E23Q|UVSSA_ENST00000511216.1_Missense_Mutation_p.E23Q	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	23	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)	p.E23Q(1)									ACTAAATCCTGAGAAAATGAA	0.443																																						uc003gde.3																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GAG>CAG		hypothetical protein LOC57654							115.0	128.0	124.0					4																	1341946		2203	4300	6503	SO:0001583	missense	57654							g.chr4:1341946G>C	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.67G>C	4.37:g.1341946G>C	ENSP00000374501:p.Glu23Gln						p.E23Q	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		2	514	+			23					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.67G>C	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723959	0.30593	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.23147	1.92;1.92;1.92	4.92	4.06	0.47325	.	0.406762	0.26788	N	0.022497	T	0.22975	0.0555	L	0.50333	1.59	0.80722	D	1	B	0.31680	0.335	B	0.26614	0.071	T	0.02877	-1.1099	10	0.22706	T	0.39	.	14.7876	0.69816	0.0:0.151:0.849:0.0	.	23	Q2YD98	K1530_HUMAN	Q	23	ENSP00000425130:E23Q;ENSP00000374501:E23Q;ENSP00000421741:E23Q	ENSP00000374501:E23Q	E	+	1	0	KIAA1530	1331946	1.000000	0.71417	0.555000	0.28281	0.410000	0.31052	4.118000	0.57884	1.151000	0.42436	0.561000	0.74099	GAG		PASS	0.443	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		37	194	37	194	---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39904022	39904022	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:39904022C>T	ENST00000303538.8	-	13	1983	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	PDS5A_ENST00000503396.1_Missense_Mutation_p.E482K	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.E482K(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTCATTCTCTCTTCTGTTTCC	0.333																																						uc003guv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1444-1446)GAG>AAG		PDS5, regulator of cohesion maintenance, homolog							109.0	107.0	107.0					4																	39904022		1823	4074	5897	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39904022C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1444G>A	4.37:g.39904022C>T	ENSP00000303427:p.Glu482Lys					PDS5A_uc010ifo.2_Missense_Mutation_p.E442K|PDS5A_uc003guw.3_Missense_Mutation_p.E482K	p.E482K	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			13	1984	-			482						Missense_Mutation	SNP	ENST00000303538.8	37	c.1444G>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921785	0.73213	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	5.47	5.47	0.80525	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	L	0.42245	1.32	0.80722	D	1	B;P	0.39862	0.03;0.692	B;P	0.51266	0.03;0.664	T	0.63292	-0.6670	8	.	.	.	-15.4691	19.313	0.94199	0.0:1.0:0.0:0.0	.	482;482	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	K	482	.	.	E	-	1	0	PDS5A	39580417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.570000	0.86706	0.655000	0.94253	GAG		PASS	0.333	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		8	56	8	56	---	---	---	---
RBM47	54502	broad.mit.edu	37	4	40438646	40438646	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:40438646C>G	ENST00000381793.2	-	4	1538	c.1142G>C	c.(1141-1143)cGa>cCa	p.R381P	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000381795.6_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R381P|RBM47_ENST00000514014.1_Missense_Mutation_p.R343P			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	381					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R381P(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ACCTCGCCCTCGGCCTCTTAT	0.552																																						uc003gvc.2																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1141-1143)CGA>CCA		RNA binding motif protein 47 isoform a							98.0	99.0	99.0					4																	40438646		1954	4146	6100	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40438646C>G	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1142G>C	4.37:g.40438646C>G	ENSP00000371212:p.Arg381Pro					RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R343P	p.R381P	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			5	1852	-			381					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.1142G>C	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332481	0.81801	.	.	ENSG00000163694	ENST00000381793;ENST00000295971;ENST00000514014	T;T;T	0.19105	2.17;2.17;2.17	5.34	4.49	0.54785	.	0.572282	0.18771	N	0.131616	T	0.32164	0.0820	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.04693	-1.0933	10	0.66056	D	0.02	-10.2082	14.387	0.66953	0.0:0.9271:0.0:0.0728	.	381	A0AV96	RBM47_HUMAN	P	381;381;343	ENSP00000371212:R381P;ENSP00000295971:R381P;ENSP00000423243:R343P	ENSP00000295971:R381P	R	-	2	0	RBM47	40133403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.690000	0.68241	2.500000	0.84329	0.491000	0.48974	CGA		PASS	0.552	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		45	202	45	202	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648662	41648662	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:41648662G>C	ENST00000313860.7	+	12	1471	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	LIMCH1_ENST00000512632.1_Missense_Mutation_p.E473Q|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E319Q|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E858Q|LIMCH1_ENST00000514096.1_Missense_Mutation_p.E314Q|LIMCH1_ENST00000511496.1_Missense_Mutation_p.E314Q|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E473Q|LIMCH1_ENST00000509277.1_Missense_Mutation_p.E307Q|LIMCH1_ENST00000381753.4_Missense_Mutation_p.E307Q|LIMCH1_ENST00000512820.1_Missense_Mutation_p.E461Q|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E302Q|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E473Q	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	473					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E473Q(1)|p.E858Q(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCATTCAACAGAGCCAAATTT	0.478																																						uc003gvu.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1417-1419)GAG>CAG		LIM and calponin homology domains 1 isoform a							199.0	207.0	204.0					4																	41648662		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648662G>C	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1417G>C	4.37:g.41648662G>C	ENSP00000316891:p.Glu473Gln					LIMCH1_uc003gvv.3_Missense_Mutation_p.E473Q|LIMCH1_uc003gvw.3_Missense_Mutation_p.E473Q|LIMCH1_uc003gvx.3_Missense_Mutation_p.E461Q|LIMCH1_uc003gwe.3_Missense_Mutation_p.E473Q|LIMCH1_uc003gvy.3_Missense_Mutation_p.E302Q|LIMCH1_uc003gwa.3_Missense_Mutation_p.E314Q|LIMCH1_uc003gvz.3_Missense_Mutation_p.E858Q|LIMCH1_uc011byu.1_Missense_Mutation_p.E307Q|LIMCH1_uc003gwc.3_Missense_Mutation_p.E319Q|LIMCH1_uc003gwd.3_Missense_Mutation_p.E307Q|LIMCH1_uc011byv.1_Missense_Mutation_p.E224Q	p.E473Q	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			12	1471	+			473					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.1417G>C	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.870390|4.870390	0.91587|0.91587	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.54071|.	1.0;1.21;1.28;1.22;1.0;1.18;0.61;0.7;0.59;1.0;1.0;0.59|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.056784|.	0.64402|.	D|.	0.000001|.	T|T	0.77274|0.77274	0.4106|0.4106	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;D;D;D;D;D;D|.	0.76494|.	0.991;0.991;0.991;0.988;0.999;0.995;0.998;0.999;0.998;0.999;0.998|.	P;P;P;D;D;D;D;D;D;D;D|.	0.85130|.	0.824;0.874;0.824;0.914;0.982;0.993;0.947;0.997;0.993;0.997;0.993|.	T|T	0.76075|0.76075	-0.3092|-0.3092	10|5	0.72032|.	D|.	0.01|.	-24.9872|-24.9872	19.6241|19.6241	0.95671|0.95671	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	224;307;473;307;319;858;302;461;473;473;473|.	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	Q|H	302;473;473;473;473;461;858;314;857;314;307;319;307|307	ENSP00000425222:E302Q;ENSP00000424825:E473Q;ENSP00000424645:E473Q;ENSP00000316891:E473Q;ENSP00000427045:E473Q;ENSP00000424437:E461Q;ENSP00000425631:E858Q;ENSP00000421242:E314Q;ENSP00000426334:E314Q;ENSP00000422864:E307Q;ENSP00000379840:E319Q;ENSP00000371172:E307Q|.	ENSP00000316891:E473Q|.	E|Q	+|+	1|3	0|2	LIMCH1|LIMCH1	41343419|41343419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.225000|9.225000	0.95219|0.95219	2.627000|2.627000	0.88993|0.88993	0.591000|0.591000	0.81541|0.81541	GAG|CAG		PASS	0.478	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		88	324	88	324	---	---	---	---
TMEM33	55161	broad.mit.edu	37	4	41956198	41956198	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:41956198G>A	ENST00000504986.1	+	7	1091	c.726G>A	c.(724-726)ttG>ttA	p.L242L	TMEM33_ENST00000325094.5_Silent_p.L242L|TMEM33_ENST00000513702.1_Silent_p.L242L	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	242						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)		p.L242L(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						TAAGCAGATTGGCACCAACAG	0.388																																						uc003gwi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(724-726)TTG>TTA		transmembrane protein 33							134.0	126.0	129.0					4																	41956198		2203	4300	6503	SO:0001819	synonymous_variant	55161					integral to membrane|melanosome	protein binding	g.chr4:41956198G>A	BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.726G>A	4.37:g.41956198G>A						TMEM33_uc010ifw.2_RNA	p.L242L	NM_018126	NP_060596	P57088	TMM33_HUMAN			7	1091	+			242					B3KSS8|Q9H953	Silent	SNP	ENST00000504986.1	37	c.726G>A	CCDS3464.1																																																																																				PASS	0.388	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126		47	159	47	159	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44450335	44450335	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:44450335G>T	ENST00000360029.3	-	1	489	c.206C>A	c.(205-207)aCt>aAt	p.T69N	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	69	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.T69N(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCTGGCCAAAGTACTGTCCGG	0.677										HNSCC(17;0.042)																												uc003gwu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(205-207)ACT>AAT		potassium channel tetramerisation domain							24.0	21.0	22.0					4																	44450335		2191	4278	6469	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450335G>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.206C>A	4.37:g.44450335G>T	ENSP00000353129:p.Thr69Asn	HNSCC(17;0.042)					p.T69N	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	490	-			69			BTB.		A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.206C>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508041	0.44558	.	.	ENSG00000183783	ENST00000360029	T	0.42900	0.96	3.59	2.74	0.32292	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.072572	0.53938	D	0.000059	T	0.36880	0.0983	L	0.38838	1.175	0.34937	D	0.74993	P	0.38788	0.647	B	0.43838	0.433	T	0.50466	-0.8825	10	0.54805	T	0.06	.	9.7952	0.40731	0.1033:0.0:0.8967:0.0	.	69	Q6ZWB6	KCTD8_HUMAN	N	69	ENSP00000353129:T69N	ENSP00000353129:T69N	T	-	2	0	KCTD8	44145092	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	2.465000	0.45075	0.693000	0.31634	0.467000	0.42956	ACT		PASS	0.677	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			5	10	5	10	---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47938785	47938785	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:47938785G>A	ENST00000514170.1	-	11	2045	c.1726C>T	c.(1726-1728)Ctc>Ttc	p.L576F	CNGA1_ENST00000402813.3_Missense_Mutation_p.L645F|CNGA1_ENST00000420489.2_Missense_Mutation_p.L576F|CNGA1_ENST00000544810.1_Missense_Mutation_p.L576F|CNGA1_ENST00000358519.4_Missense_Mutation_p.L576F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	576					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.L576F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTTTTGAGAGACAGAACAGG	0.418																																						uc003gxt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1726-1728)CTC>TTC		cyclic nucleotide gated channel alpha 1 isoform							115.0	114.0	114.0					4																	47938785		2018	4218	6236	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47938785G>A	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1726C>T	4.37:g.47938785G>A	ENSP00000426862:p.Leu576Phe					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.L645F	p.L576F	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	1992	-			576			cGMP (Potential).|Cytoplasmic (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1726C>T	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118704	0.77323	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7;-4.7	4.92	4.92	0.64577	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	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	0.99029	1.0820	10	0.87932	D	0	.	18.5037	0.90890	0.0:0.0:1.0:0.0	.	576;576	Q4W5E3;P29973	.;CNGA1_HUMAN	F	645;576;576;576;576	ENSP00000384264:L645F;ENSP00000426862:L576F;ENSP00000443401:L576F;ENSP00000351320:L576F;ENSP00000389881:L576F	ENSP00000351320:L576F	L	-	1	0	CNGA1	47633542	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.415000	0.66411	2.433000	0.82419	0.491000	0.48974	CTC		PASS	0.418	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		95	142	95	142	---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939043	47939043	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:47939043C>G	ENST00000514170.1	-	11	1787	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q	CNGA1_ENST00000402813.3_Missense_Mutation_p.E559Q|CNGA1_ENST00000420489.2_Missense_Mutation_p.E490Q|CNGA1_ENST00000544810.1_Missense_Mutation_p.E490Q|CNGA1_ENST00000358519.4_Missense_Mutation_p.E490Q			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	490					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.E490Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AAGACCAACTCCACCAACAGA	0.408																																						uc003gxt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1468-1470)GAG>CAG		cyclic nucleotide gated channel alpha 1 isoform							163.0	156.0	158.0					4																	47939043		1968	4181	6149	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939043C>G	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1468G>C	4.37:g.47939043C>G	ENSP00000426862:p.Glu490Gln					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.E559Q	p.E490Q	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	1734	-			490			cGMP (Potential).|Helical; Name=H6; (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1468G>C	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819504	0.71028	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07	5.04	5.04	0.67666	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96537	0.8870	M	0.80847	2.515	0.80722	D	1	P;P	0.48230	0.907;0.907	P;P	0.44732	0.459;0.459	D	0.97145	0.9827	10	0.62326	D	0.03	.	18.4229	0.90597	0.0:1.0:0.0:0.0	.	490;490	Q4W5E3;P29973	.;CNGA1_HUMAN	Q	559;490;490;490;490	ENSP00000384264:E559Q;ENSP00000426862:E490Q;ENSP00000443401:E490Q;ENSP00000351320:E490Q;ENSP00000389881:E490Q	ENSP00000351320:E490Q	E	-	1	0	CNGA1	47633800	1.000000	0.71417	0.997000	0.53966	0.835000	0.47333	7.487000	0.81328	2.342000	0.79632	0.305000	0.20034	GAG		PASS	0.408	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		47	266	47	266	---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56744117	56744117	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:56744117C>G	ENST00000381295.2	+	9	1457	c.1109C>G	c.(1108-1110)tCt>tGt	p.S370C	EXOC1_ENST00000346134.7_Missense_Mutation_p.S370C|EXOC1_ENST00000349598.6_Missense_Mutation_p.S370C	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	370					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S370C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GCCCAACACTCTGTTGAACTG	0.358																																						uc003hbe.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(1108-1110)TCT>TGT		exocyst complex component 1 isoform 1							148.0	128.0	135.0					4																	56744117		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56744117C>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1109C>G	4.37:g.56744117C>G	ENSP00000370695:p.Ser370Cys					EXOC1_uc003hbf.1_Missense_Mutation_p.S370C|EXOC1_uc003hbg.1_Missense_Mutation_p.S370C	p.S370C	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			9	1267	+	Glioma(25;0.08)|all_neural(26;0.101)		370					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1109C>G	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933148	0.92458	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.65	5.65	0.86999	.	0.101674	0.64402	D	0.000002	T	0.72645	0.3486	L	0.52573	1.65	0.80722	D	1	P;D	0.53151	0.91;0.958	P;P	0.57101	0.646;0.813	T	0.73780	-0.3875	9	0.66056	D	0.02	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	370;370	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	C	370	.	ENSP00000326514:S370C	S	+	2	0	EXOC1	56438874	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	7.400000	0.79949	2.673000	0.90976	0.557000	0.71058	TCT		PASS	0.358	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		3	130	3	130	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57181915	57181915	+	Silent	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:57181915C>A	ENST00000504228.1	+	6	2352	c.2247C>A	c.(2245-2247)ccC>ccA	p.P749P	KIAA1211_ENST00000541073.1_Silent_p.P742P|KIAA1211_ENST00000264229.6_Silent_p.P749P			Q6ZU35	K1211_HUMAN	KIAA1211	749								p.P749P(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAAAAAGACCCATGCTGGGAC	0.582																																						uc003hbk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2245-2247)CCC>CCA		hypothetical protein LOC57482							59.0	73.0	69.0					4																	57181915		1963	4130	6093	SO:0001819	synonymous_variant	57482							g.chr4:57181915C>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2247C>A	4.37:g.57181915C>A						KIAA1211_uc010iha.2_Silent_p.P742P|KIAA1211_uc011bzz.1_Silent_p.P659P|KIAA1211_uc003hbm.1_Silent_p.P635P	p.P749P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	2638	+	Glioma(25;0.08)|all_neural(26;0.101)		749					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.2247C>A	CCDS43230.1																																																																																				PASS	0.582	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		28	43	28	43	---	---	---	---
REST	5978	broad.mit.edu	37	4	57797315	57797315	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:57797315A>T	ENST00000309042.7	+	4	2605	c.2291A>T	c.(2290-2292)gAg>gTg	p.E764V		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	764	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|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)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M753_P768delMEVVQKEPVKIELSPP(1)|p.E764V(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTTAAGATAGAGCTGTCTCCT	0.562																																						uc003hch.2																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.M753_P768delMEVVQKEPVKIELSPP(1)	lung(1)|central_nervous_system(1)	skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(2290-2292)GAG>GTG		RE1-silencing transcription factor							247.0	262.0	257.0					4																	57797315		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797315A>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2291A>T	4.37:g.57797315A>T	ENSP00000311816:p.Glu764Val					REST_uc003hci.2_Missense_Mutation_p.E764V|REST_uc010ihf.2_Missense_Mutation_p.E438V	p.E764V	NM_005612	NP_005603	Q13127	REST_HUMAN			4	2638	+	Glioma(25;0.08)|all_neural(26;0.181)		764			Pro-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2291A>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	9.634	1.137267	0.21123	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.08193	3.12	3.01	1.83	0.25207	.	0.193052	0.26478	N	0.024157	T	0.08537	0.0212	N	0.13003	0.285	0.09310	N	1	D;D	0.69078	0.997;0.995	P;P	0.60949	0.881;0.72	T	0.23440	-1.0188	10	0.28530	T	0.3	-0.1326	4.7041	0.12841	0.7289:0.0:0.2711:0.0	.	741;764	F8WAN5;Q13127	.;REST_HUMAN	V	764;741	ENSP00000311816:E764V	ENSP00000311816:E764V	E	+	2	0	REST	57492072	0.224000	0.23674	0.028000	0.17463	0.027000	0.11550	1.057000	0.30492	0.548000	0.28955	0.402000	0.26972	GAG		PASS	0.562	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		226	368	226	368	---	---	---	---
TMPRSS11B	132724	broad.mit.edu	37	4	69100194	69100195	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:69100194_69100195GG>AT	ENST00000332644.5	-	5	616_617	c.455_456CC>AT	c.(454-456)tCC>tAT	p.S152Y		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	152	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.S152Y(2)|p.S152S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGAGTTTAATGGAAGCAGGAAC	0.327																																						uc003hdw.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(454-456)TCC>TCT|c.(454-456)TCC>TAC		transmembrane protease, serine 11B																																				SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69100194G>A|g.chr4:69100195G>T	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.455_456delinsAT	4.37:g.69100194_69100195delinsAT	ENSP00000330475:p.Ser152Tyr						p.S152S|p.S152Y	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			5	592|591	-			152			SEA.|Extracellular (Potential).		A8K4D9	Silent|Missense_Mutation	SNP	ENST00000332644.5	37	c.456C>T|c.455C>A	CCDS3521.1																																																																																				PASS	0.327	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		50	97|96	50	96	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73178020	73178020	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:73178020C>T	ENST00000286657.4	-	13	1945	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	637	Cys-rich.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E637K(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCAGGATGTTCATATGGCAAC	0.488																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1909-1911)GAA>AAA		ADAM metallopeptidase with thrombospondin type 1							197.0	171.0	180.0					4																	73178020		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73178020C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1909G>A	4.37:g.73178020C>T	ENSP00000286657:p.Glu637Lys					ADAMTS3_uc003hgl.2_5'Flank	p.E637K	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		13	1946	-			637			Cys-rich.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1909G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571595	0.86542	.	.	ENSG00000156140	ENST00000286657	T	0.69806	-0.43	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.81024	0.4737	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73827	-0.3860	10	0.15952	T	0.53	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	637	O15072	ATS3_HUMAN	K	637	ENSP00000286657:E637K	ENSP00000286657:E637K	E	-	1	0	ADAMTS3	73396884	1.000000	0.71417	0.682000	0.30024	0.278000	0.26855	7.487000	0.81328	2.847000	0.97988	0.591000	0.81541	GAA		PASS	0.488	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			31	138	31	138	---	---	---	---
AFP	174	broad.mit.edu	37	4	74318154	74318154	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:74318154G>A	ENST00000395792.2	+	12	1565	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	AFP_ENST00000226359.2_Missense_Mutation_p.E489K	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	489	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)	p.E489K(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TATCAGACATGAAATGACTCC	0.433									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1465-1467)GAA>AAA		alpha-fetoprotein precursor							128.0	122.0	124.0					4																	74318154		2203	4300	6503	SO:0001583	missense	174	Alpha-Fetoprotein_Hereditary_Persistence_of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74318154G>A	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1465G>A	4.37:g.74318154G>A	ENSP00000379138:p.Glu489Lys					AFP_uc003hha.1_Missense_Mutation_p.E489K|AFP_uc011cbg.1_Missense_Mutation_p.E263K	p.E489K	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1512	+	Breast(15;0.00102)		489			Albumin 3.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.1465G>A	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061803	0.36373	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.58210	0.35;0.35	5.52	5.52	0.82312	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.356365	0.26453	N	0.024289	T	0.51873	0.1700	L	0.48260	1.515	0.33380	D	0.574771	P;P	0.38745	0.645;0.505	B;B	0.41946	0.371;0.282	T	0.67114	-0.5752	10	0.87932	D	0	.	14.8084	0.69974	0.0:0.0:1.0:0.0	.	331;489	B4DMX4;P02771	.;FETA_HUMAN	K	489	ENSP00000379138:E489K;ENSP00000226359:E489K	ENSP00000226359:E489K	E	+	1	0	AFP	74537018	0.146000	0.22672	0.900000	0.35374	0.045000	0.14185	1.269000	0.33074	2.873000	0.98535	0.563000	0.77884	GAA		PASS	0.433	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			23	92	23	92	---	---	---	---
MRPL1	65008	broad.mit.edu	37	4	78871002	78871002	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:78871002G>C	ENST00000315567.8	+	8	1158	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	277					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E277Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AGTTATTAATGAAGTTTGTAG	0.358																																						uc003hku.2																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)GAA>CAA		mitochondrial ribosomal protein L1 precursor							129.0	130.0	130.0					4																	78871002		2203	4300	6503	SO:0001583	missense	65008						RNA binding	g.chr4:78871002G>C	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.829G>C	4.37:g.78871002G>C	ENSP00000315017:p.Glu277Gln					MRPL1_uc010iji.1_Intron	p.E277Q	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN			8	1027	+			277					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	c.829G>C	CCDS3583.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.897170|3.897170	0.72639|0.72639	.|.	.|.	ENSG00000169288|ENSG00000169288	ENST00000315567;ENST00000538314|ENST00000504901	T|.	0.43294|.	0.95|.	5.95|5.95	5.11|5.11	0.69529|0.69529	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);|.	0.204155|.	0.49305|.	D|.	0.000151|.	T|T	0.65923|0.65923	0.2738|0.2738	M|M	0.68317|0.68317	2.08|2.08	0.34378|0.34378	D|D	0.692813|0.692813	P|.	0.34977|.	0.478|.	B|.	0.40101|.	0.319|.	T|T	0.75354|0.75354	-0.3347|-0.3347	10|5	0.34782|.	T|.	0.22|.	-8.8265|-8.8265	12.3502|12.3502	0.55144|0.55144	0.0786:0.0:0.9214:0.0|0.0786:0.0:0.9214:0.0	.|.	277|.	Q9BYD6|.	RM01_HUMAN|.	Q|I	277;255|70	ENSP00000315017:E277Q|.	ENSP00000315017:E277Q|.	E|M	+|+	1|3	0|0	MRPL1|MRPL1	79090026|79090026	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.988000|0.988000	0.76386|0.76386	5.253000|5.253000	0.65452|0.65452	1.534000|1.534000	0.49203|0.49203	0.655000|0.655000	0.94253|0.94253	GAA|ATG		PASS	0.358	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		4	128	4	128	---	---	---	---
COPS4	51138	broad.mit.edu	37	4	83978197	83978197	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:83978197G>A	ENST00000264389.2	+	5	664	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	COPS4_ENST00000511653.1_Missense_Mutation_p.E177K|COPS4_ENST00000509093.1_Missense_Mutation_p.E177K|COPS4_ENST00000503682.1_Missense_Mutation_p.E177K	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	177					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)		p.E177K(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				GCTTCAGAATGAATCAACCAA	0.363																																						uc003hoa.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(529-531)GAA>AAA		COP9 signalosome subunit 4							93.0	94.0	94.0					4																	83978197		2203	4300	6503	SO:0001583	missense	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83978197G>A	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.529G>A	4.37:g.83978197G>A	ENSP00000264389:p.Glu177Lys					COPS4_uc003hob.2_Missense_Mutation_p.E177K|COPS4_uc010ijw.2_Missense_Mutation_p.E177K|COPS4_uc010ijx.2_Missense_Mutation_p.E177K	p.E177K	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN			5	668	+		Hepatocellular(203;0.114)	177					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.529G>A	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043254	0.55003	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.48836	0.84;0.84;0.91;0.88;0.8	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.055536	0.64402	N	0.000001	T	0.45836	0.1362	L	0.39566	1.225	0.80722	D	1	P;P;P;B	0.44986	0.847;0.757;0.544;0.301	B;B;B;B	0.43478	0.293;0.421;0.211;0.15	T	0.25433	-1.0132	10	0.27082	T	0.32	-15.6732	19.4597	0.94912	0.0:0.0:1.0:0.0	.	177;177;177;177	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	K	177;177;65;177;177	ENSP00000425976:E177K;ENSP00000264389:E177K;ENSP00000425486:E65K;ENSP00000424791:E177K;ENSP00000424655:E177K	ENSP00000264389:E177K	E	+	1	0	COPS4	84197221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.721000	0.98766	2.585000	0.87301	0.467000	0.42956	GAA		PASS	0.363	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			69	92	69	92	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85611771	85611771	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:85611771C>A	ENST00000295888.4	-	61	9658	c.9251G>T	c.(9250-9252)tGt>tTt	p.C3084F	WDFY3_ENST00000322366.6_Missense_Mutation_p.C3067F|RN7SL552P_ENST00000462094.2_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3084	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.C3084F(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCAGATTGCACAGAGAATCTG	0.493																																						uc003hpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(9250-9252)TGT>TTT		WD repeat and FYVE domain containing 3 isoform							118.0	104.0	109.0					4																	85611771		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85611771C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9251G>T	4.37:g.85611771C>A	ENSP00000295888:p.Cys3084Phe						p.C3084F	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	61	9659	-		Hepatocellular(203;0.114)	3084			WD 1.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9251G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089397	0.94149	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.28666	1.6;1.6	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	M	0.86502	2.82	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.65809	-0.6078	10	0.59425	D	0.04	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	3084	Q8IZQ1	WDFY3_HUMAN	F	3067;3084	ENSP00000318466:C3067F;ENSP00000295888:C3084F	ENSP00000295888:C3084F	C	-	2	0	WDFY3	85830795	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.850000	0.98022	0.650000	0.86243	TGT		PASS	0.493	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		25	59	25	59	---	---	---	---
HERC6	55008	broad.mit.edu	37	4	89352393	89352393	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:89352393C>G	ENST00000264346.7	+	17	2245	c.2186C>G	c.(2185-2187)aCc>aGc	p.T729S	HERC6_ENST00000380265.5_Missense_Mutation_p.T693S	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	729	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.T729S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAAGAGATGACCAAGCCAGAA	0.393																																						uc011cdi.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|kidney(1)	5						c.(2185-2187)ACC>AGC		hect domain and RLD 6 isoform 1							157.0	166.0	163.0					4																	89352393		2181	4298	6479	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89352393C>G	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.2186C>G	4.37:g.89352393C>G	ENSP00000264346:p.Thr729Ser					HERC6_uc011cdj.1_Missense_Mutation_p.T693S|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.T729S	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	17	2369	+		Hepatocellular(203;0.114)	729			HECT.		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.2186C>G	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100666	0.37048	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.57752	0.38;0.38	4.14	2.37	0.29283	HECT (4);	0.515866	0.19491	N	0.112984	T	0.56615	0.1997	L	0.53249	1.67	0.43462	D	0.99566	D;D	0.63880	0.992;0.993	P;P	0.58577	0.754;0.841	T	0.57412	-0.7816	10	0.66056	D	0.02	.	4.8491	0.13528	0.0:0.5915:0.0:0.4085	.	693;729	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	S	693;729	ENSP00000369617:T693S;ENSP00000264346:T729S	ENSP00000264346:T729S	T	+	2	0	HERC6	89571416	0.426000	0.25506	0.844000	0.33320	0.909000	0.53808	1.974000	0.40559	1.096000	0.41439	0.467000	0.42956	ACC		PASS	0.393	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			46	233	46	233	---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89668850	89668850	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:89668850T>C	ENST00000264344.5	-	18	2521	c.2314A>G	c.(2314-2316)Aca>Gca	p.T772A	FAM13A_ENST00000511976.1_Missense_Mutation_p.T358A|FAM13A_ENST00000395002.2_Missense_Mutation_p.T446A|FAM13A_ENST00000508369.1_Missense_Mutation_p.T446A|FAM13A_ENST00000503556.1_Missense_Mutation_p.T432A|FAM13A_ENST00000513837.1_Missense_Mutation_p.T418A	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	772					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.T772A(1)|p.T446A(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GATTCCAATGTGGCTTCAACA	0.478																																						uc003hse.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2						c.(2314-2316)ACA>GCA		family with sequence similarity 13, member A1							161.0	179.0	173.0					4																	89668850		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89668850T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2314A>G	4.37:g.89668850T>C	ENSP00000264344:p.Thr772Ala					FAM13A_uc003hsa.1_Missense_Mutation_p.T243A|FAM13A_uc003hsb.1_Missense_Mutation_p.T446A|FAM13A_uc003hsd.1_Missense_Mutation_p.T446A|FAM13A_uc003hsc.1_Missense_Mutation_p.T432A|FAM13A_uc011cdq.1_Missense_Mutation_p.T418A|FAM13A_uc003hsf.1_Missense_Mutation_p.T358A|FAM13A_uc003hsg.1_Missense_Mutation_p.T243A	p.T772A	NM_014883	NP_055698	O94988	FA13A_HUMAN			18	2522	-			772					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.2314A>G	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.704469	0.48412	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.55052	0.54;1.82;1.13;1.2;1.13;1.14	5.26	4.07	0.47477	.	0.052068	0.85682	D	0.000000	T	0.60907	0.2305	L	0.58428	1.81	0.80722	D	1	P;P;D;D;P;D	0.58970	0.902;0.952;0.983;0.98;0.879;0.984	P;P;P;P;P;P	0.54856	0.57;0.606;0.723;0.762;0.488;0.681	T	0.64188	-0.6466	10	0.72032	D	0.01	.	12.4042	0.55430	0.0:0.0:0.1407:0.8593	.	418;358;772;446;432;446	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	A	446;772;432;358;446;418	ENSP00000378450:T446A;ENSP00000264344:T772A;ENSP00000427189:T432A;ENSP00000421914:T358A;ENSP00000421562:T446A;ENSP00000423252:T418A	ENSP00000264344:T772A	T	-	1	0	FAM13A	89887873	1.000000	0.71417	0.979000	0.43373	0.006000	0.05464	7.868000	0.87116	0.999000	0.39023	-0.313000	0.08912	ACA		PASS	0.478	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			50	223	50	223	---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96762179	96762179	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:96762179G>C	ENST00000295266.4	+	1	941	c.878G>C	c.(877-879)aGt>aCt	p.S293T		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	293					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.S293T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CACAGTATGAGTGATCCTGGA	0.423																																						uc003htr.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(877-879)AGT>ACT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						104.0	102.0	103.0					4																	96762179		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762179G>C		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.878G>C	4.37:g.96762179G>C	ENSP00000295266:p.Ser293Thr						p.S293T	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	941	+		Hepatocellular(203;0.114)	293					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.878G>C	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314909	0.81358	.	.	ENSG00000163114	ENST00000295266	D	0.96716	-4.1	4.91	4.91	0.64330	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	M	0.80616	2.505	0.80722	D	1	D	0.54772	0.968	D	0.75020	0.985	D	0.98431	1.0582	10	0.87932	D	0	-4.7517	16.0034	0.80327	0.0:0.0:1.0:0.0	.	293	P29803	ODPAT_HUMAN	T	293	ENSP00000295266:S293T	ENSP00000295266:S293T	S	+	2	0	PDHA2	96981202	1.000000	0.71417	0.971000	0.41717	0.979000	0.70002	8.824000	0.92023	2.733000	0.93635	0.467000	0.42956	AGT		PASS	0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			28	60	28	60	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104512829	104512829	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:104512829C>G	ENST00000304883.2	-	4	1040	c.900G>C	c.(898-900)atG>atC	p.M300I	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	300					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.M300I(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAATAATCATCATTTTGACAA	0.308																																						uc003hxe.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(898-900)ATG>ATC		tachykinin receptor 3							55.0	53.0	54.0					4																	104512829		2202	4300	6502	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104512829C>G	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.900G>C	4.37:g.104512829C>G	ENSP00000303325:p.Met300Ile						p.M300I	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	4	1043	-		Hepatocellular(203;0.217)	300			Helical; Name=6; (Potential).		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.900G>C	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590079	0.86851	.	.	ENSG00000169836	ENST00000304883	T	0.39056	1.1	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71451	0.3341	M	0.89968	3.075	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.78468	-0.2192	10	0.87932	D	0	.	17.9221	0.88970	0.0:1.0:0.0:0.0	.	300	P29371	NK3R_HUMAN	I	300	ENSP00000303325:M300I	ENSP00000303325:M300I	M	-	3	0	TACR3	104732278	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.610000	0.67668	2.536000	0.85505	0.655000	0.94253	ATG		PASS	0.308	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		12	45	12	45	---	---	---	---
UGT8	7368	broad.mit.edu	37	4	115597237	115597237	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:115597237T>G	ENST00000310836.6	+	6	1941	c.1419T>G	c.(1417-1419)ttT>ttG	p.F473L	UGT8_ENST00000394511.3_Missense_Mutation_p.F473L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	473					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.F473L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GTCAGTATTTTTTACTGGATA	0.383																																						uc003ibs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1417-1419)TTT>TTG		UDP-galactose-ceramide galactosyltransferase 8							195.0	170.0	179.0					4																	115597237		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115597237T>G	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1419T>G	4.37:g.115597237T>G	ENSP00000311648:p.Phe473Leu					UGT8_uc003ibt.2_Missense_Mutation_p.F473L|UGT8_uc011cge.1_RNA	p.F473L	NM_001128174	NP_001121646	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	6	1941	+		Ovarian(17;0.156)	473			Helical; (Potential).		B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.1419T>G	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711035	0.68730	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.59224	0.28;0.28	5.66	-1.23	0.09465	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.29908	0.895	0.49582	D	0.999807	B	0.33549	0.417	B	0.44133	0.442	T	0.50398	-0.8833	10	0.87932	D	0	.	11.7625	0.51912	0.0:0.4845:0.0:0.5155	.	473	Q16880	CGT_HUMAN	L	473	ENSP00000311648:F473L;ENSP00000378019:F473L	ENSP00000311648:F473L	F	+	3	2	UGT8	115816686	1.000000	0.71417	0.323000	0.25347	0.964000	0.63967	1.148000	0.31614	-0.408000	0.07565	-0.379000	0.06801	TTT		PASS	0.383	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		42	160	42	160	---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122082298	122082298	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:122082298C>T	ENST00000509841.1	-	5	449	c.371G>A	c.(370-372)aGa>aAa	p.R124K	TNIP3_ENST00000057513.3_Missense_Mutation_p.R47K|TNIP3_ENST00000507879.1_Missense_Mutation_p.R117K|TNIP3_ENST00000454328.1_Missense_Mutation_p.R47K	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.R47K(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TACCTCTTTTCTTTGTTTTTC	0.313																																						uc010ing.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(139-141)AGA>AAA		TNFAIP3 interacting protein 3							146.0	139.0	141.0					4																	122082298		2185	4290	6475	SO:0001583	missense	79931							g.chr4:122082298C>T	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.371G>A	4.37:g.122082298C>T	ENSP00000426613:p.Arg124Lys					TNIP3_uc010inh.2_Missense_Mutation_p.R47K|TNIP3_uc011cgj.1_Missense_Mutation_p.R105K|TNIP3_uc010ini.2_Missense_Mutation_p.R47K	p.R47K	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN			2	336	-			47			Potential.			Missense_Mutation	SNP	ENST00000509841.1	37	c.140G>A	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037387	0.35989	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.51817	0.69;0.69;0.71;0.71	4.77	2.82	0.32997	.	0.257806	0.33217	N	0.005144	T	0.45776	0.1359	L	0.52364	1.645	0.27318	N	0.957132	B;P;B	0.44946	0.103;0.846;0.433	B;P;B	0.47915	0.279;0.561;0.11	T	0.30880	-0.9963	10	0.36615	T	0.2	-8.023	9.2498	0.37549	0.3927:0.6073:0.0:0.0	.	117;47;47	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	K	47;47;117;124	ENSP00000057513:R47K;ENSP00000411817:R47K;ENSP00000427106:R117K;ENSP00000426613:R124K	ENSP00000057513:R47K	R	-	2	0	TNIP3	122301748	0.992000	0.36948	1.000000	0.80357	0.748000	0.42578	0.558000	0.23469	1.272000	0.44329	0.491000	0.48974	AGA		PASS	0.313	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		4	23	4	23	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123179939	123179939	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:123179939G>C	ENST00000264501.4	+	42	7076	c.6703G>C	c.(6703-6705)Gag>Cag	p.E2235Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E2235Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E2235Q			Q2LD37	K1109_HUMAN	KIAA1109	2235					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E2235Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AACTGGAGCTGAGATAATGAG	0.403																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(6703-6705)GAG>CAG		fragile site-associated protein							105.0	100.0	102.0					4																	123179939		1876	4113	5989	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123179939G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6703G>C	4.37:g.123179939G>C	ENSP00000264501:p.Glu2235Gln					KIAA1109_uc003iel.1_Missense_Mutation_p.E170Q|KIAA1109_uc003iek.2_Missense_Mutation_p.E854Q	p.E2235Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			40	6748	+			2235					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.6703G>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.892351|4.892351	0.91889|0.91889	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.26660|.	2.33;2.33;1.72|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.000000|.	0.51477|.	U|.	0.000094|.	T|.	0.57080|.	0.2029|.	N|N	0.24115|0.24115	0.695|0.695	0.53688|0.53688	D|D	0.999971|0.999971	P;P;P|.	0.45044|.	0.844;0.839;0.849|.	B;P;B|.	0.46172|.	0.445;0.506;0.309|.	T|.	0.49103|.	-0.8974|.	10|.	0.45353|.	T|.	0.12|.	.|.	20.2488|20.2488	0.98402|0.98402	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2235;2234;2235|.	Q2LD37-6;Q2LD37-2;Q2LD37|.	.;.;K1109_HUMAN|.	Q|S	2235|192	ENSP00000264501:E2235Q;ENSP00000373390:E2235Q;ENSP00000389925:E2235Q|.	ENSP00000264501:E2235Q|.	E|X	+|+	1|2	0|2	KIAA1109|KIAA1109	123399389|123399389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.394000|9.394000	0.97261|0.97261	2.796000|2.796000	0.96246|0.96246	0.585000|0.585000	0.79938|0.79938	GAG|TGA		PASS	0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		29	107	29	107	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123270402	123270402	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:123270402G>A	ENST00000264501.4	+	78	13743	c.13370G>A	c.(13369-13371)aGa>aAa	p.R4457K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4457K			Q2LD37	K1109_HUMAN	KIAA1109	4457					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R4457K(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGTCTGGGAAGATCACAATTA	0.413																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(13369-13371)AGA>AAA		fragile site-associated protein							155.0	164.0	162.0					4																	123270402		1907	4113	6020	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123270402G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13370G>A	4.37:g.123270402G>A	ENSP00000264501:p.Arg4457Lys					KIAA1109_uc003iem.2_Missense_Mutation_p.R813K	p.R4457K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			76	13415	+			4457					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.13370G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.785795|4.785795	0.90282|0.90282	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	.|T;T;T	.|0.42900	.|0.96;0.96;0.96	5.99|5.99	5.99|5.99	0.97316|0.97316	.|Fragile site-associated protein, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48466|0.48466	0.1501|0.1501	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	.|P;D	.|0.56746	.|0.865;0.977	.|P;P	.|0.57152	.|0.554;0.814	T|T	0.16364|0.16364	-1.0405|-1.0405	5|10	.|0.07325	.|T	.|0.83	.|.	20.4777|20.4777	0.99188|0.99188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4456;4457	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	N|K	833|4457;4457;1126;58	.|ENSP00000264501:R4457K;ENSP00000373390:R4457K;ENSP00000410874:R1126K	.|ENSP00000264501:R4457K	D|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123489852|123489852	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAT|AGA		PASS	0.413	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	107	5	107	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126241507	126241507	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:126241507C>G	ENST00000394329.3	+	1	3954	c.3941C>G	c.(3940-3942)tCt>tGt	p.S1314C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1314	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1314C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATACCCCTTCTTTCCCTAAA	0.373																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3940-3942)TCT>TGT		FAT tumor suppressor homolog 4 precursor							114.0	107.0	109.0					4																	126241507		1862	4101	5963	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241507C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3941C>G	4.37:g.126241507C>G	ENSP00000377862:p.Ser1314Cys						p.S1314C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3941	+			1314			Cadherin 12.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3941C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597493	0.46318	.	.	ENSG00000196159	ENST00000394329	T	0.01787	4.64	4.69	4.69	0.59074	Cadherin (2);Cadherin-like (1);	0.000000	0.34362	U	0.004028	T	0.06280	0.0162	L	0.43923	1.385	0.80722	D	1	D	0.63046	0.992	P	0.60886	0.88	T	0.38757	-0.9646	10	0.56958	D	0.05	.	17.8011	0.88587	0.0:1.0:0.0:0.0	.	1314	Q6V0I7	FAT4_HUMAN	C	1314	ENSP00000377862:S1314C	ENSP00000377862:S1314C	S	+	2	0	FAT4	126460957	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.606000	0.61126	2.443000	0.82685	0.561000	0.74099	TCT		PASS	0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		41	177	41	177	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129891542	129891542	+	Missense_Mutation	SNP	C	C	T	rs141863899	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:129891542C>T	ENST00000281142.5	-	10	1271	c.768G>A	c.(766-768)atG>atA	p.M256I	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	256					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.M256I(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCTTCTTTTTCATCTGTCCCT	0.328																																						uc003igp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(766-768)ATG>ATA		sodium channel associated protein 1							87.0	87.0	87.0					4																	129891542		2203	4298	6501	SO:0001583	missense	132320					centrosome		g.chr4:129891542C>T	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.768G>A	4.37:g.129891542C>T	ENSP00000281142:p.Met256Ile					SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	p.M256I	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			10	1274	-			256			Potential.		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.768G>A	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.241937	0.10077	.	.	ENSG00000151466	ENST00000281142	T	0.09445	2.98	4.58	3.74	0.42951	.	0.285633	0.42964	N	0.000637	T	0.09686	0.0238	L	0.48362	1.52	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.12785	-1.0534	9	.	.	.	-3.0163	9.0052	0.36106	0.0:0.8978:0.0:0.1022	.	256	Q96NL6	SCLT1_HUMAN	I	256	ENSP00000281142:M256I	.	M	-	3	0	SCLT1	130110992	0.993000	0.37304	0.852000	0.33557	0.369000	0.29798	0.443000	0.21644	1.283000	0.44513	0.460000	0.39030	ATG		PASS	0.328	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		17	72	17	72	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073056	134073056	+	Silent	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:134073056T>A	ENST00000264360.5	+	1	2587	c.1761T>A	c.(1759-1761)cgT>cgA	p.R587R	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	587	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R587R(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCCAGCGCGTGAGGTGCTGC	0.662																																						uc003iha.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1759-1761)CGT>CGA		protocadherin 10 isoform 1 precursor							21.0	25.0	23.0					4																	134073056		2106	4189	6295	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073056T>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1761T>A	4.37:g.134073056T>A						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.R587R	p.R587R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2587	+			587			Cadherin 6.|Extracellular (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1761T>A	CCDS34063.1																																																																																				PASS	0.662	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		8	53	8	53	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073059	134073059	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:134073059G>T	ENST00000264360.5	+	1	2590	c.1764G>T	c.(1762-1764)gaG>gaT	p.E588D	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	588	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E588D(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGCGCGTGAGGTGCTGCCCC	0.662																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1762-1764)GAG>GAT		protocadherin 10 isoform 1 precursor							20.0	25.0	23.0					4																	134073059		2122	4196	6318	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073059G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1764G>T	4.37:g.134073059G>T	ENSP00000264360:p.Glu588Asp					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E588D	p.E588D	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2590	+			588			Cadherin 6.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1764G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116178	0.37339	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.38077	1.16	4.5	3.66	0.41972	Cadherin-like (1);	0.000000	0.45867	D	0.000337	T	0.49184	0.1542	L	0.49256	1.55	0.46798	D	0.9992	D;P	0.65815	0.995;0.861	D;P	0.72625	0.978;0.533	T	0.45175	-0.9279	10	0.54805	T	0.06	.	8.7216	0.34445	0.1738:0.0:0.8262:0.0	.	588;588	Q9P2E7;Q96SF0	PCD10_HUMAN;.	D	588	ENSP00000264360:E588D	ENSP00000264360:E588D	E	+	3	2	PCDH10	134292509	0.997000	0.39634	1.000000	0.80357	0.221000	0.24807	2.471000	0.45127	1.114000	0.41781	0.655000	0.94253	GAG		PASS	0.662	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		8	53	8	53	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146080657	146080657	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:146080657G>C	ENST00000447906.2	-	7	814	c.627C>G	c.(625-627)tgC>tgG	p.C209W	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.C144W|OTUD4_ENST00000509620.2_Missense_Mutation_p.C144W|OTUD4_ENST00000296579.6_Missense_Mutation_p.C144W			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	209					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.C144W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATTCTTACTTGCAACTGTCAT	0.303																																						uc003ika.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(430-432)TGC>TGG		OTU domain containing 4 protein isoform 3							210.0	206.0	207.0					4																	146080657		2202	4300	6502	SO:0001583	missense	54726						protein binding	g.chr4:146080657G>C		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.627C>G	4.37:g.146080657G>C	ENSP00000395487:p.Cys209Trp					OTUD4_uc003ijz.3_Missense_Mutation_p.C144W|OTUD4_uc003ikb.3_Missense_Mutation_p.C144W	p.C144W	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			7	570	-	all_hematologic(180;0.151)		209					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.432C>G		.	.	.	.	.	.	.	.	.	.	G	17.38	3.374628	0.61735	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973;ENST00000509620;ENST00000296579	T;T;T;T;T	0.48201	1.43;1.44;1.48;0.82;0.82	5.91	5.91	0.95273	.	0.208637	0.43416	D	0.000570	T	0.60586	0.2280	L	0.59436	1.845	0.54753	D	0.999984	D;B	0.63880	0.993;0.272	P;B	0.56865	0.808;0.043	T	0.62181	-0.6908	10	0.87932	D	0	-8.4088	15.5074	0.75750	0.0:0.0:0.861:0.139	.	209;209	G3V0I6;Q01804	.;OTUD4_HUMAN	W	144;209;144;144;144	ENSP00000409279:C144W;ENSP00000395487:C209W;ENSP00000425972:C144W;ENSP00000424192:C144W;ENSP00000296579:C144W	ENSP00000296579:C144W	C	-	3	2	OTUD4	146300107	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.968000	0.63728	2.813000	0.96785	0.655000	0.94253	TGC		PASS	0.303	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		80	177	80	177	---	---	---	---
EDNRA	1909	broad.mit.edu	37	4	148453689	148453689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:148453689C>T	ENST00000324300.5	+	4	1095	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000339690.5_Missense_Mutation_p.S151L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	194					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.Q194*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GAGTCGTGTTCAGGGAATTGG	0.408																																						uc003iky.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(580-582)CAG>TAG		endothelin receptor type A isoform a precursor	Bosentan(DB00559)						168.0	156.0	160.0					4																	148453689		2203	4300	6503	SO:0001587	stop_gained	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148453689C>T	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.580C>T	4.37:g.148453689C>T	ENSP00000315011:p.Gln194*					EDNRA_uc011cid.1_5'UTR|EDNRA_uc010ipe.1_Missense_Mutation_p.S151L|EDNRA_uc010ipf.1_Intron|EDNRA_uc010ipg.1_Intron	p.Q194*	NM_001957	NP_001948	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	4	1272	+	all_hematologic(180;0.151)		194			Cytoplasmic (Potential).		B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Nonsense_Mutation	SNP	ENST00000324300.5	37	c.580C>T	CCDS3769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.303532|9.303532	0.99130|0.99130	.|.	.|.	ENSG00000151617|ENSG00000151617	ENST00000324300|ENST00000339690	.|T	.|0.81415	.|-1.49	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.106321|.	0.64402|.	D|.	0.000003|.	.|T	.|0.79476	.|0.4452	.|.	.|.	.|.	0.40829|0.40829	D|D	0.98357|0.98357	.|P	.|0.37370	.|0.592	.|B	.|0.36289	.|0.221	.|T	.|0.82108	.|-0.0620	.|8	0.14656|0.87932	T|D	0.56|0	-12.1194|-12.1194	19.4992|19.4992	0.95086|0.95086	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|151	.|P25101-2	.|.	X|L	194|151	.|ENSP00000341556:S151L	ENSP00000315011:Q194X|ENSP00000341556:S151L	Q|S	+|+	1|2	0|0	EDNRA|EDNRA	148673139|148673139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.663000|5.663000	0.68038|0.68038	2.604000|2.604000	0.88044|0.88044	0.557000|0.557000	0.71058|0.71058	CAG|TCA		PASS	0.408	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			65	234	65	234	---	---	---	---
SH3D19	152503	broad.mit.edu	37	4	152054354	152054354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:152054354C>A	ENST00000409252.2	-	16	2457	c.1750G>T	c.(1750-1752)Gga>Tga	p.G584*	SH3D19_ENST00000514152.1_Nonsense_Mutation_p.G561*|SH3D19_ENST00000455740.1_Nonsense_Mutation_p.G561*|SH3D19_ENST00000304527.4_Nonsense_Mutation_p.G584*|SH3D19_ENST00000427414.2_Nonsense_Mutation_p.G525*|SH3D19_ENST00000409598.4_Nonsense_Mutation_p.G561*|SH3D19_ENST00000424281.1_Nonsense_Mutation_p.G525*			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	584	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.G581W(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTCTGCTCTCCAATATATTCA	0.388																																						uc010ipl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1750-1752)GGA>TGA		SH3 domain containing 19 isoform a							71.0	74.0	73.0					4																	152054354		2203	4300	6503	SO:0001587	stop_gained	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152054354C>A	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1750G>T	4.37:g.152054354C>A	ENSP00000386848:p.Gly584*					SH3D19_uc003imb.2_Nonsense_Mutation_p.G339*|SH3D19_uc003imc.2_Nonsense_Mutation_p.G525*|SH3D19_uc003ime.2_Nonsense_Mutation_p.G561*|SH3D19_uc010ipm.2_Nonsense_Mutation_p.G561*	p.G584*	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			17	2840	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	584			SH3 3.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Nonsense_Mutation	SNP	ENST00000409252.2	37	c.1750G>T	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	46	12.325370	0.99657	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	.	.	.	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.03	19.0859	0.93202	0.0:1.0:0.0:0.0	.	.	.	.	X	561;584;561;525;525;584;561	.	ENSP00000302913:G584X	G	-	1	0	SH3D19	152273804	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.678000	0.68153	2.496000	0.84212	0.561000	0.74099	GGA		PASS	0.388	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		4	133	4	133	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155249247	155249247	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:155249247G>A	ENST00000357232.4	-	12	2650	c.2651C>T	c.(2650-2652)tCa>tTa	p.S884L	DCHS2_ENST00000339452.1_Missense_Mutation_p.S1339L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	884	Cadherin 7. {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.S1339L(1)|p.S884L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGTTTTACCTGAAGATACTGA	0.358																																						uc003inw.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(2650-2652)TCA>TTA		dachsous 2 isoform 1							108.0	108.0	108.0					4																	155249247		2202	4299	6501	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155249247G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2651C>T	4.37:g.155249247G>A	ENSP00000349768:p.Ser884Leu					DCHS2_uc003inx.2_Missense_Mutation_p.S1339L	p.S884L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	12	2651	-	all_hematologic(180;0.208)	Renal(120;0.0854)	884			Cadherin 7.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2651C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926024	0.92319	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.58797	0.57;0.31	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.243755	0.28515	N	0.015065	T	0.75258	0.3825	M	0.71581	2.175	0.80722	D	1	P;D	0.69078	0.799;0.997	B;D	0.65874	0.276;0.939	T	0.73842	-0.3855	10	0.44086	T	0.13	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	1339;884	E9PC11;Q6V1P9	.;PCD23_HUMAN	L	884;1339;1339	ENSP00000349768:S884L;ENSP00000345062:S1339L	ENSP00000345062:S1339L	S	-	2	0	DCHS2	155468697	1.000000	0.71417	0.997000	0.53966	0.789000	0.44602	9.001000	0.93568	2.677000	0.91161	0.655000	0.94253	TCA		PASS	0.358	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		24	121	24	121	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155249256	155249256	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:155249256G>C	ENST00000357232.4	-	12	2641	c.2642C>G	c.(2641-2643)tCa>tGa	p.S881*	DCHS2_ENST00000339452.1_Nonsense_Mutation_p.S1336*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	881	Cadherin 7. {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.S881*(1)|p.S1336*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAAGATACTGAGTATGTAAC	0.358																																						uc003inw.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(2641-2643)TCA>TGA		dachsous 2 isoform 1							116.0	115.0	116.0					4																	155249256		2202	4300	6502	SO:0001587	stop_gained	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155249256G>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2642C>G	4.37:g.155249256G>C	ENSP00000349768:p.Ser881*					DCHS2_uc003inx.2_Nonsense_Mutation_p.S1336*	p.S881*	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	12	2642	-	all_hematologic(180;0.208)	Renal(120;0.0854)	881			Cadherin 7.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	c.2642C>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	45	11.307281	0.99545	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	.	.	.	5.67	5.67	0.87782	.	0.122356	0.37178	N	0.002212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.0205	0.58784	0.0731:0.0:0.9269:0.0	.	.	.	.	X	881;1336;1336	.	ENSP00000345062:S1336X	S	-	2	0	DCHS2	155468706	1.000000	0.71417	0.300000	0.25030	0.761000	0.43186	7.236000	0.78154	2.677000	0.91161	0.655000	0.94253	TCA		PASS	0.358	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		24	141	24	141	---	---	---	---
FGB	2244	broad.mit.edu	37	4	155490729	155490729	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:155490729T>C	ENST00000302068.4	+	7	1085	c.1022T>C	c.(1021-1023)tTg>tCg	p.L341S	FGB_ENST00000509493.1_Missense_Mutation_p.L122S|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	341	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.L341S(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ACAGAACTTTTGATAGAAATG	0.368																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3																			3	Substitution - Missense(3)		liver(2)|lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1021-1023)TTG>TCG		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						86.0	89.0	88.0					4																	155490729		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490729T>C		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1022T>C	4.37:g.155490729T>C	ENSP00000306099:p.Leu341Ser					FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.L279S|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.L122S	p.L341S	NM_005141	NP_005132	P02675	FIBB_HUMAN			7	1061	+	all_hematologic(180;0.215)	Renal(120;0.0458)	341			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1022T>C	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386408	0.82902	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.78003	-1.14;-1.14	5.53	5.53	0.82687	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.89308	0.6678	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90120	0.4198	10	0.48119	T	0.1	.	15.9509	0.79835	0.0:0.0:0.0:1.0	.	324;341	B4E1D3;P02675	.;FIBB_HUMAN	S	341;324;122	ENSP00000306099:L341S;ENSP00000426757:L122S	ENSP00000306099:L341S	L	+	2	0	FGB	155710179	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	7.819000	0.86621	2.225000	0.72522	0.533000	0.62120	TTG		PASS	0.368	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		49	71	49	71	---	---	---	---
C4orf45	152940	broad.mit.edu	37	4	159956200	159956200	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:159956200G>C	ENST00000434826.2	-	1	133	c.49C>G	c.(49-51)Caa>Gaa	p.Q17E	C4orf45_ENST00000508011.1_Intron	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	17								p.Q17E(1)		large_intestine(2)|lung(3)	5						AAAATCATTTGTTTTCCCACA	0.328																																						uc003iqf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)CAA>GAA		hypothetical protein LOC152940							107.0	102.0	103.0					4																	159956200		1830	4085	5915	SO:0001583	missense	152940							g.chr4:159956200G>C		CCDS47156.1	4q32.1	2012-03-02			ENSG00000164123	ENSG00000164123			26342	protein-coding gene	gene with protein product							Standard	NM_152543		Approved	FLJ25371	uc003iqf.1	Q96LM5	OTTHUMG00000161988	ENST00000434826.2:c.49C>G	4.37:g.159956200G>C	ENSP00000412215:p.Gln17Glu					C4orf45_uc010iqt.1_Intron	p.Q17E	NM_152543	NP_689756	Q96LM5	CD045_HUMAN			1	134	-			17					A8MPU3|C9J0T8	Missense_Mutation	SNP	ENST00000434826.2	37	c.49C>G	CCDS47156.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282476	0.23392	.	.	ENSG00000164123	ENST00000434826	T	0.14766	2.48	5.4	4.51	0.55191	.	0.443060	0.19097	N	0.122812	T	0.10508	0.0257	L	0.29908	0.895	0.09310	N	1	B	0.23806	0.091	B	0.21708	0.036	T	0.17961	-1.0352	9	.	.	.	-6.0352	11.9668	0.53040	0.0:0.0:0.8272:0.1728	.	17	Q96LM5	CD045_HUMAN	E	17	ENSP00000412215:Q17E	.	Q	-	1	0	C4orf45	160175650	0.873000	0.30073	0.442000	0.26870	0.771000	0.43674	2.573000	0.46007	2.692000	0.91855	0.655000	0.94253	CAA		PASS	0.328	C4orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366636.1	NM_152543		20	24	20	24	---	---	---	---
GPM6A	2823	broad.mit.edu	37	4	176622910	176622910	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:176622910C>G	ENST00000280187.7	-	3	91	c.46G>C	c.(46-48)Gaa>Caa	p.E16Q	GPM6A_ENST00000393658.2_Missense_Mutation_p.E16Q|GPM6A_ENST00000515090.1_Missense_Mutation_p.E9Q|GPM6A_ENST00000506894.1_Missense_Mutation_p.E5Q	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	16					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.E16Q(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATACAGCATTCAAAACACCCT	0.418																																						uc003iuf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)GAA>CAA		glycoprotein M6A isoform 2							62.0	64.0	63.0					4																	176622910		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176622910C>G		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.46G>C	4.37:g.176622910C>G	ENSP00000280187:p.Glu16Gln					GPM6A_uc011ckj.1_Missense_Mutation_p.E9Q|GPM6A_uc003iug.2_Missense_Mutation_p.E16Q|GPM6A_uc003iuh.2_Missense_Mutation_p.E5Q	p.E16Q	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	2	850	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	16			Cytoplasmic (Potential).		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.46G>C	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965245	0.92855	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000513365;ENST00000505304	D;D;D;D;D;D;D	0.99409	-5.85;-5.85;-5.85;-5.85;-5.85;-5.85;-5.85	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	D	0.99170	1.0864	10	0.66056	D	0.02	-0.1834	20.3011	0.98612	0.0:1.0:0.0:0.0	.	9;5;16	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	Q	16;16;5;9;8;16;9	ENSP00000280187:E16Q;ENSP00000377268:E16Q;ENSP00000421578:E5Q;ENSP00000423984:E9Q;ENSP00000422959:E8Q;ENSP00000423122:E16Q;ENSP00000425463:E9Q	ENSP00000280187:E16Q	E	-	1	0	GPM6A	176859904	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.804000	0.96469	0.650000	0.86243	GAA		PASS	0.418	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			24	123	24	123	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177070988	177070988	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:177070988C>G	ENST00000280190.4	+	15	2156	c.2000C>G	c.(1999-2001)aCt>aGt	p.T667S	WDR17_ENST00000508596.1_Missense_Mutation_p.T643S|WDR17_ENST00000393643.2_Missense_Mutation_p.T643S|WDR17_ENST00000507824.2_Missense_Mutation_p.T650S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	667								p.T667S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CGCCCCTTCACTATGGCCTCT	0.383																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1999-2001)ACT>AGT		WD repeat domain 17 isoform 1							121.0	123.0	123.0					4																	177070988		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177070988C>G	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2000C>G	4.37:g.177070988C>G	ENSP00000280190:p.Thr667Ser					WDR17_uc003iuk.2_Missense_Mutation_p.T643S|WDR17_uc003ium.3_Missense_Mutation_p.T643S|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank	p.T667S	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	15	2156	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	667			WD 12.		E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2000C>G	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761605	0.89932	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60548	0.18;0.18;0.18	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	N	0.16368	0.405	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.69727	-0.5067	10	0.62326	D	0.03	-21.5276	19.5603	0.95369	0.0:1.0:0.0:0.0	.	643;667	E7EQX0;Q8IZU2	.;WDR17_HUMAN	S	643;643;667;650	ENSP00000422763:T643S;ENSP00000377258:T643S;ENSP00000280190:T667S	ENSP00000280190:T667S	T	+	2	0	WDR17	177307982	1.000000	0.71417	0.977000	0.42913	0.978000	0.69477	5.430000	0.66501	2.611000	0.88343	0.563000	0.77884	ACT		PASS	0.383	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			11	291	11	291	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177070997	177070997	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:177070997C>G	ENST00000280190.4	+	15	2165	c.2009C>G	c.(2008-2010)tCt>tGt	p.S670C	WDR17_ENST00000508596.1_Missense_Mutation_p.S646C|WDR17_ENST00000393643.2_Missense_Mutation_p.S646C|WDR17_ENST00000507824.2_Missense_Mutation_p.S653C			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	670								p.S670C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ACTATGGCCTCTTGCTCCCGT	0.368																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2008-2010)TCT>TGT		WD repeat domain 17 isoform 1							123.0	124.0	124.0					4																	177070997		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177070997C>G	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2009C>G	4.37:g.177070997C>G	ENSP00000280190:p.Ser670Cys					WDR17_uc003iuk.2_Missense_Mutation_p.S646C|WDR17_uc003ium.3_Missense_Mutation_p.S646C|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank	p.S670C	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	15	2165	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	670			WD 12.		E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2009C>G	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090830	0.76756	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.72394	-0.65;-0.65;-0.65	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.135690	0.51477	D	0.000097	D	0.87438	0.6177	M	0.88512	2.96	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89270	0.3604	10	0.87932	D	0	-19.0989	19.5603	0.95369	0.0:1.0:0.0:0.0	.	646;670	E7EQX0;Q8IZU2	.;WDR17_HUMAN	C	646;646;670;653	ENSP00000422763:S646C;ENSP00000377258:S646C;ENSP00000280190:S670C	ENSP00000280190:S670C	S	+	2	0	WDR17	177307991	1.000000	0.71417	0.813000	0.32504	0.994000	0.84299	5.457000	0.66672	2.611000	0.88343	0.563000	0.77884	TCT		PASS	0.368	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			9	294	9	294	---	---	---	---
STOX2	56977	broad.mit.edu	37	4	184932482	184932482	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:184932482G>C	ENST00000308497.4	+	3	3926	c.2491G>C	c.(2491-2493)Gac>Cac	p.D831H	STOX2_ENST00000438269.1_Missense_Mutation_p.D831H	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	831					embryo development (GO:0009790)|maternal placenta development (GO:0001893)			p.D855H(1)|p.D831H(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAAAGAAACCGACAGCAGCAG	0.557																																						uc003ivz.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2491-2493)GAC>CAC		storkhead box 2							48.0	54.0	52.0					4																	184932482		2062	4233	6295	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184932482G>C	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2491G>C	4.37:g.184932482G>C	ENSP00000311257:p.Asp831His					STOX2_uc003iwa.1_Missense_Mutation_p.D520H	p.D831H	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	3926	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	831					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.2491G>C	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262016	0.80358	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.79352	-0.14;-1.26	5.95	5.95	0.96441	.	0.100230	0.64402	D	0.000002	T	0.73218	0.3559	N	0.08118	0	0.58432	D	0.999999	P;P	0.47350	0.852;0.894	P;P	0.50970	0.655;0.555	T	0.78411	-0.2214	10	0.72032	D	0.01	-26.4559	20.3967	0.98985	0.0:0.0:1.0:0.0	.	831;831	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	H	831	ENSP00000311257:D831H;ENSP00000390127:D831H	ENSP00000311257:D831H	D	+	1	0	STOX2	185169476	1.000000	0.71417	0.966000	0.40874	0.957000	0.61999	9.809000	0.99208	2.829000	0.97493	0.655000	0.94253	GAC		PASS	0.557	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		9	36	9	36	---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187173216	187173216	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:187173216C>G	ENST00000264690.6	+	11	1377	c.1190C>G	c.(1189-1191)tCt>tGt	p.S397C	KLKB1_ENST00000513864.1_Missense_Mutation_p.S397C	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	397	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.S397C(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGAACAAACTCTTCTTGGGGA	0.517																																						uc003iyy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1189-1191)TCT>TGT		plasma kallikrein B1 precursor							96.0	93.0	94.0					4																	187173216		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187173216C>G	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1190C>G	4.37:g.187173216C>G	ENSP00000264690:p.Ser397Cys					KLKB1_uc011clc.1_Missense_Mutation_p.S195C|KLKB1_uc011cld.1_Missense_Mutation_p.S359C	p.S397C	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	11	1261	+		all_cancers(14;1.55e-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;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	397			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1190C>G	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.21|18.21	3.572725|3.572725	0.65765|0.65765	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.93076	.|-3.16;-3.16	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.350163	.|0.28560	.|N	.|0.014906	D|D	0.95828|0.95828	0.8642|0.8642	L|L	0.49455|0.49455	1.56|1.56	0.28874|0.28874	N|N	0.894785|0.894785	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.78314	.|0.991;0.981;0.951	D|D	0.91917|0.91917	0.5544|0.5544	5|10	.|0.87932	.|D	.|0	.|.	19.9477|19.9477	0.97189|0.97189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|359;397;397	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	V|C	445|397;397;359	.|ENSP00000264690:S397C;ENSP00000424469:S397C	.|ENSP00000264690:S397C	L|S	+|+	1|2	0|0	KLKB1|KLKB1	187410210|187410210	0.880000|0.880000	0.30214|0.30214	0.117000|0.117000	0.21633|0.21633	0.551000|0.551000	0.35334|0.35334	4.769000|4.769000	0.62300|0.62300	2.793000|2.793000	0.96121|0.96121	0.645000|0.645000	0.84053|0.84053	CTT|TCT		PASS	0.517	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		19	117	19	117	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189020233	189020233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr4:189020233C>A	ENST00000512729.1	-	4	801	c.427G>T	c.(427-429)Gag>Tag	p.E143*	TRIML2_ENST00000536972.1_Nonsense_Mutation_p.E193*|TRIML2_ENST00000326754.3_Nonsense_Mutation_p.E143*	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	143					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.E143*(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTCTCAAGCTCCACGATGAGC	0.483																																						uc003izl.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)	2						c.(427-429)GAG>TAG		tripartite motif family-like 2							98.0	94.0	95.0					4																	189020233		2203	4300	6503	SO:0001587	stop_gained	205860						ligase activity	g.chr4:189020233C>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.427G>T	4.37:g.189020233C>A	ENSP00000422581:p.Glu143*					TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Nonsense_Mutation_p.E193*|TRIML2_uc011clf.1_Nonsense_Mutation_p.E193*	p.E143*	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	4	463	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	143			Potential.		B7Z6J6	Nonsense_Mutation	SNP	ENST00000512729.1	37	c.427G>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925949	0.52759	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	.	.	.	4.48	2.7	0.31948	.	0.360970	0.20240	N	0.096303	.	.	.	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.1862	0.20498	0.0:0.7087:0.1887:0.1026	.	.	.	.	X	143;143;193	.	ENSP00000317498:E143X	E	-	1	0	TRIML2	189257227	0.508000	0.26154	0.041000	0.18516	0.029000	0.11900	2.152000	0.42272	0.603000	0.29913	0.650000	0.86243	GAG		PASS	0.483	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		19	134	19	134	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5200278	5200278	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:5200278G>T	ENST00000274181.7	+	9	1485	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M449I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	449	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.M449I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAGGGAACATGTGCAAAAAGT	0.453																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1345-1347)ATG>ATT		ADAM metallopeptidase with thrombospondin type 1							58.0	61.0	60.0					5																	5200278		1965	4160	6125	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5200278G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1347G>T	5.37:g.5200278G>T	ENSP00000274181:p.Met449Ile					ADAMTS16_uc003jdk.1_Missense_Mutation_p.M449I|ADAMTS16_uc003jdj.1_Missense_Mutation_p.M449I	p.M449I	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			9	1485	+			449			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1347G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549229	0.27652	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.86297	-2.1;-2.1	5.11	3.32	0.38043	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.404453	0.26658	N	0.023172	T	0.72993	0.3530	N	0.14661	0.345	0.41159	D	0.986089	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.11329	0.004;0.004;0.006	T	0.61451	-0.7060	10	0.25106	T	0.35	.	6.6948	0.23193	0.1586:0.0:0.6988:0.1427	.	449;449;449	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	I	449	ENSP00000274181:M449I;ENSP00000421631:M449I	ENSP00000274181:M449I	M	+	3	0	ADAMTS16	5253278	0.447000	0.25673	0.876000	0.34364	0.705000	0.40729	0.585000	0.23879	0.656000	0.30886	0.655000	0.94253	ATG		PASS	0.453	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		8	62	8	62	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7727363	7727364	+	Missense_Mutation	DNP	CG	CG	AA	rs149172094		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:7727363_7727364CG>AA	ENST00000338316.4	+	14	1949_1950	c.1860_1861CG>AA	c.(1858-1863)ctCGtg>ctAAtg	p.V621M	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.V441M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	621					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.V621M(2)|p.L620L(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						TGCAGATTCTCGTGCTGCCAAA	0.48																																						uc003jdz.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(5)|pancreas(1)|skin(1)	7						c.(1858-1860)CTC>CTA|c.(1861-1863)GTG>ATG		adenylate cyclase 2																																				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.chr5:7727363C>A|g.chr5:7727364G>A	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	Exception_encountered	5.37:g.7727363_7727364delinsAA	ENSP00000342952:p.Val621Met					ADCY2_uc011cmo.1_Silent_p.L440L|ADCY2_uc011cmo.1_Missense_Mutation_p.V441M	p.L620L|p.V621M	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			14	1927|1928	+			620|621			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent|Missense_Mutation	SNP	ENST00000338316.4	37	c.1860C>A|c.1861G>A	CCDS3872.2																																																																																				PASS	0.480	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		31	140	31	140	---	---	---	---
C5orf49	134121	broad.mit.edu	37	5	7835508	7835508	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:7835508T>C	ENST00000399810.2	-	2	719	c.251A>G	c.(250-252)cAt>cGt	p.H84R	C5orf49_ENST00000509627.1_Missense_Mutation_p.H84R	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	84								p.H84R(1)		large_intestine(3)|lung(5)|skin(1)	9						TTCGTTAACATGAAGTCCCAG	0.338																																						uc003jea.3																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)CAT>CGT		hypothetical protein LOC134121							138.0	135.0	136.0					5																	7835508		1824	4096	5920	SO:0001583	missense	134121							g.chr5:7835508T>C		CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.251A>G	5.37:g.7835508T>C	ENSP00000382708:p.His84Arg						p.H84R	NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN			2	381	-			84						Missense_Mutation	SNP	ENST00000399810.2	37	c.251A>G	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	T	8.161	0.789528	0.16258	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.30981	1.51;1.51	4.95	1.2	0.21068	.	.	.	.	.	T	0.15696	0.0378	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34675	-0.9819	9	0.12766	T	0.61	-22.3304	7.6414	0.28296	0.0:0.38:0.0:0.62	.	84	A4QMS7	CE049_HUMAN	R	84	ENSP00000382708:H84R;ENSP00000426019:H84R	ENSP00000382708:H84R	H	-	2	0	C5orf49	7888508	0.559000	0.26562	0.056000	0.19401	0.890000	0.51754	1.418000	0.34782	0.032000	0.15435	-0.375000	0.07067	CAT		PASS	0.338	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584		56	241	56	241	---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7900156	7900156	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:7900156G>C	ENST00000264668.2	+	15	2193	c.2163G>C	c.(2161-2163)caG>caC	p.Q721H	MTRR_ENST00000440940.2_Missense_Mutation_p.Q694H	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	721					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|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)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.Q721H(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GCTACCTTCAGGATATTTGGT	0.338																																						uc003jed.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2161-2163)CAG>CAC		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						66.0	70.0	68.0					5																	7900156		2202	4300	6502	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7900156G>C	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.2163G>C	5.37:g.7900156G>C	ENSP00000264668:p.Gln721His					MTRR_uc003jee.3_Missense_Mutation_p.Q694H|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.Q721H	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			15	2193	+			721					O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.2163G>C	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659770	0.67586	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.78481	-1.18;-1.18	5.71	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.89750	0.3939	10	0.72032	D	0.01	-26.02	10.9891	0.47539	0.154:0.0:0.846:0.0	.	721	Q9UBK8	MTRR_HUMAN	H	721;694	ENSP00000264668:Q721H;ENSP00000402510:Q694H	ENSP00000264668:Q721H	Q	+	3	2	MTRR	7953156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.718000	0.47236	2.709000	0.92574	0.655000	0.94253	CAG		PASS	0.338	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			42	117	42	117	---	---	---	---
FAM173B	134145	broad.mit.edu	37	5	10236624	10236624	+	Missense_Mutation	SNP	C	C	A	rs533296845		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:10236624C>A	ENST00000511437.1	-	3	422	c.410G>T	c.(409-411)gGa>gTa	p.G137V	FAM173B_ENST00000510052.1_Intron|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.G137V	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	137						integral component of membrane (GO:0016021)		p.G137V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						TTTGGCAGATCCATGCACACC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		15121	0.001		0.0	False		,,,				2504	0.0					uc003jeo.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|central_nervous_system(1)	2						c.(409-411)GGA>GTA		hypothetical protein LOC134145							81.0	79.0	80.0					5																	10236624		1858	4104	5962	SO:0001583	missense	134145					integral to membrane		g.chr5:10236624C>A		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.410G>T	5.37:g.10236624C>A	ENSP00000422338:p.Gly137Val					FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.G137V	p.G137V	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN			3	439	-			137					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.410G>T	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441146	0.25900	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.21734	1.99;1.99	5.23	-1.29	0.09288	.	0.800671	0.11840	N	0.524390	T	0.18800	0.0451	M	0.70842	2.15	0.09310	N	0.999994	P;P	0.34977	0.478;0.457	B;B	0.33295	0.161;0.158	T	0.14755	-1.0461	10	0.34782	T	0.22	-0.0762	4.9593	0.14057	0.0:0.2643:0.303:0.4327	.	137;137	E9PBZ4;Q6P4H8	.;F173B_HUMAN	V	137	ENSP00000422338:G137V;ENSP00000420876:G137V	ENSP00000420876:G137V	G	-	2	0	FAM173B	10289624	0.411000	0.25384	0.000000	0.03702	0.974000	0.67602	0.540000	0.23191	-0.371000	0.08004	0.655000	0.94253	GGA		PASS	0.408	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		16	157	16	157	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11117664	11117664	+	Silent	SNP	G	G	A	rs367616442		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:11117664G>A	ENST00000304623.8	-	13	2364	c.2175C>T	c.(2173-2175)gcC>gcT	p.A725A	CTNND2_ENST00000458100.2_Silent_p.A292A|CTNND2_ENST00000359640.2_Silent_p.A725A|CTNND2_ENST00000511377.1_Silent_p.A634A|CTNND2_ENST00000503622.1_Silent_p.A388A|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	725				A -> P (in Ref. 1; AAC63103). {ECO:0000305}.	cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A725A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTCCTCTCCGGCCGAACTAA	0.527																																						uc003jfa.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2173-2175)GCC>GCT		catenin (cadherin-associated protein), delta 2							147.0	115.0	126.0					5																	11117664		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11117664G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2175C>T	5.37:g.11117664G>A						CTNND2_uc010itt.2_Silent_p.A634A|CTNND2_uc011cmy.1_Silent_p.A388A|CTNND2_uc011cmz.1_Silent_p.A292A|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.A292A	p.A725A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			13	2320	-			725	A -> P (in Ref. 1; AAC63103).				B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2175C>T	CCDS3881.1																																																																																				PASS	0.527	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		35	107	35	107	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21765088	21765088	+	Splice_Site	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:21765088T>A	ENST00000382254.1	-	12	2600	c.1514A>T	c.(1513-1515)cAg>cTg	p.Q505L	CDH12_ENST00000504376.2_Splice_Site_p.Q505L|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Splice_Site_p.Q465L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	505	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q505L(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						ATAAGATACCTGTCCTGGCTT	0.338										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1513-1515)CAG>CTG		cadherin 12, type 2 preproprotein							133.0	135.0	134.0					5																	21765088		2203	4300	6503	SO:0001630	splice_region_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21765088T>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.1515+1A>T	5.37:g.21765088T>A		HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.Q465L|CDH12_uc003jgk.2_Missense_Mutation_p.Q505L|uc003jgj.2_Intron	p.Q505L	NM_004061	NP_004052	P55289	CAD12_HUMAN			9	1972	-			505			Extracellular (Potential).|Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1514A>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705379	0.89018	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.52526	0.66;0.66;0.66	5.46	5.46	0.80206	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	M	0.89904	3.07	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.78314	0.991;0.988	T	0.80756	-0.1240	10	0.87932	D	0	.	15.8345	0.78789	0.0:0.0:0.0:1.0	.	465;505	B7Z2U6;P55289	.;CAD12_HUMAN	L	505;505;465	ENSP00000423577:Q505L;ENSP00000371689:Q505L;ENSP00000428786:Q465L	ENSP00000371689:Q505L	Q	-	2	0	CDH12	21800845	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	5.885000	0.69736	2.207000	0.71202	0.519000	0.50382	CAG		PASS	0.338	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	Missense_Mutation	79	238	79	238	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078562	22078562	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:22078562A>G	ENST00000382254.1	-	5	1310	c.224T>C	c.(223-225)gTg>gCg	p.V75A	CDH12_ENST00000504376.2_Missense_Mutation_p.V75A|CDH12_ENST00000522262.1_Missense_Mutation_p.V75A	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	75	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V75A(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						TACCTTTCCCACATACTGAGG	0.443										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(223-225)GTG>GCG		cadherin 12, type 2 preproprotein							79.0	79.0	79.0					5																	22078562		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.chr5:22078562A>G	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.224T>C	5.37:g.22078562A>G	ENSP00000371689:p.Val75Ala	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.V75A|CDH12_uc003jgk.2_Missense_Mutation_p.V75A	p.V75A	NM_004061	NP_004052	P55289	CAD12_HUMAN			2	682	-			75			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.224T>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.970760	0.92919	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.00525	6.81;6.81;6.81	5.5	5.5	0.81552	Cadherin (1);Cadherin-like (1);	0.059999	0.64402	D	0.000003	T	0.04092	0.0114	H	0.98199	4.17	0.58432	D	0.999997	D;D	0.65815	0.989;0.995	P;D	0.83275	0.902;0.996	T	0.01436	-1.1355	10	0.87932	D	0	.	15.6098	0.76707	1.0:0.0:0.0:0.0	.	75;75	B7Z2U6;P55289	.;CAD12_HUMAN	A	75	ENSP00000423577:V75A;ENSP00000371689:V75A;ENSP00000428786:V75A	ENSP00000371689:V75A	V	-	2	0	CDH12	22114319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	2.099000	0.63709	0.528000	0.53228	GTG		PASS	0.443	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		42	114	42	114	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078567	22078567	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:22078567C>A	ENST00000382254.1	-	5	1305	c.219G>T	c.(217-219)caG>caT	p.Q73H	CDH12_ENST00000504376.2_Missense_Mutation_p.Q73H|CDH12_ENST00000522262.1_Missense_Mutation_p.Q73H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q73H(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						TTCCCACATACTGAGGCTCGG	0.448										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(217-219)CAG>CAT		cadherin 12, type 2 preproprotein							85.0	85.0	85.0					5																	22078567		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.chr5:22078567C>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.219G>T	5.37:g.22078567C>A	ENSP00000371689:p.Gln73His	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.Q73H|CDH12_uc003jgk.2_Missense_Mutation_p.Q73H	p.Q73H	NM_004061	NP_004052	P55289	CAD12_HUMAN			2	677	-			73			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.219G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972905	0.53614	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.00543	6.68;6.68;6.68	5.5	3.71	0.42584	Cadherin (1);Cadherin-like (1);	0.059749	0.64402	D	0.000001	T	0.00875	0.0029	N	0.24115	0.695	0.48511	D	0.999669	P;D	0.76494	0.852;0.999	P;D	0.85130	0.566;0.997	D	0.83503	0.0076	10	0.22706	T	0.39	.	9.0879	0.36592	0.0:0.788:0.0:0.212	.	73;73	B7Z2U6;P55289	.;CAD12_HUMAN	H	73	ENSP00000423577:Q73H;ENSP00000371689:Q73H;ENSP00000428786:Q73H	ENSP00000371689:Q73H	Q	-	3	2	CDH12	22114324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.765000	0.38481	0.685000	0.31468	0.650000	0.86243	CAG		PASS	0.448	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		47	122	47	122	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31468104	31468104	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:31468104G>A	ENST00000511367.2	-	17	2552	c.2308C>T	c.(2308-2310)Ccg>Tcg	p.P770S	DROSHA_ENST00000442743.1_Missense_Mutation_p.P733S|DROSHA_ENST00000344624.3_Missense_Mutation_p.P770S|DROSHA_ENST00000513349.1_Missense_Mutation_p.P733S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	770	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.P770S(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ACGATAATCGGAAAAGTAATC	0.428																																						uc003jhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2308-2310)CCG>TCG		ribonuclease III, nuclear isoform 1							78.0	76.0	77.0					5																	31468104		1905	4116	6021	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31468104G>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2308C>T	5.37:g.31468104G>A	ENSP00000425979:p.Pro770Ser					RNASEN_uc003jhh.2_Missense_Mutation_p.P733S|RNASEN_uc003jhi.2_Missense_Mutation_p.P733S	p.P770S	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			17	2667	-			770			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.2308C>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804074	0.90623	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.61158	0.77;0.77;0.13;0.13	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	M	0.68952	2.095	0.80722	D	1	D;P	0.55800	0.973;0.879	P;P	0.58780	0.845;0.712	T	0.75855	-0.3170	10	0.87932	D	0	-12.6883	18.8884	0.92388	0.0:0.0:1.0:0.0	.	733;770	E7EMP9;Q9NRR4	.;RNC_HUMAN	S	770;770;733;733;695;726	ENSP00000425979:P770S;ENSP00000339845:P770S;ENSP00000409335:P733S;ENSP00000424161:P733S	ENSP00000265075:P695S	P	-	1	0	DROSHA	31503861	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.444000	0.82710	0.655000	0.94253	CCG		PASS	0.428	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		10	35	10	35	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33684141	33684141	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:33684141C>G	ENST00000504830.1	-	4	989	c.654G>C	c.(652-654)caG>caC	p.Q218H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q218H|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	218					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.Q218H(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						GCTCTTGCTTCTGGGAGATGT	0.458										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.(652-654)CAG>CAC		ADAM metallopeptidase with thrombospondin type 1							62.0	57.0	58.0					5																	33684141		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33684141C>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.654G>C	5.37:g.33684141C>G	ENSP00000422554:p.Gln218His	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q218H	p.Q218H	NM_030955	NP_112217	P58397	ATS12_HUMAN			4	817	-			218					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.654G>C	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	5.951	0.359441	0.11239	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59502	0.26;0.26	5.0	3.21	0.36854	.	0.612581	0.16859	N	0.196606	T	0.50548	0.1622	L	0.43152	1.355	0.80722	D	1	P;B	0.46220	0.874;0.002	P;B	0.48141	0.568;0.011	T	0.50693	-0.8798	10	0.45353	T	0.12	.	3.4313	0.07429	0.0:0.5164:0.2118:0.2719	.	218;218	P58397-3;P58397	.;ATS12_HUMAN	H	218	ENSP00000422554:Q218H;ENSP00000344847:Q218H	ENSP00000344847:Q218H	Q	-	3	2	ADAMTS12	33719898	0.261000	0.24063	0.819000	0.32651	0.104000	0.19210	0.827000	0.27421	1.469000	0.48083	0.643000	0.83706	CAG		PASS	0.458	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		5	70	5	70	---	---	---	---
UGT3A2	167127	broad.mit.edu	37	5	36037942	36037942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:36037942C>A	ENST00000282507.3	-	6	1353	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.E384*|UGT3A2_ENST00000545528.1_Nonsense_Mutation_p.E116*|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	418					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.E418*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAATGTCTCTGCCTTGAGC	0.443																																						uc003jjz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1252-1254)GAG>TAG		UDP glycosyltransferase 3 family, polypeptide A2							177.0	164.0	168.0					5																	36037942		2203	4300	6503	SO:0001587	stop_gained	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36037942C>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1252G>T	5.37:g.36037942C>A	ENSP00000282507:p.Glu418*					UGT3A2_uc011cos.1_Nonsense_Mutation_p.E384*|UGT3A2_uc011cot.1_Nonsense_Mutation_p.E116*	p.E418*	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1345	-	all_lung(31;0.000179)		418			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Nonsense_Mutation	SNP	ENST00000282507.3	37	c.1252G>T	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218998	0.79464	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	.	.	.	3.18	2.3	0.28687	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	10.257	0.43403	0.0:0.8937:0.0:0.1063	.	.	.	.	X	418;384;116	.	ENSP00000282507:E418X	E	-	1	0	UGT3A2	36073699	0.505000	0.26131	0.905000	0.35620	0.569000	0.35902	1.304000	0.33482	0.888000	0.36160	0.563000	0.77884	GAG		PASS	0.443	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		47	358	47	358	---	---	---	---
SKP2	6502	broad.mit.edu	37	5	36168476	36168476	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:36168476G>T	ENST00000274255.6	+	5	794	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	SKP2_ENST00000274254.5_Missense_Mutation_p.G200C|SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)	p.G200C(2)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCCTCCACGGCATACTGTC	0.507																																						uc003jkc.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|breast(1)	4						c.(598-600)GGC>TGC		S-phase kinase-associated protein 2 isoform 1							212.0	214.0	213.0					5																	36168476		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36168476G>T	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.598G>T	5.37:g.36168476G>T	ENSP00000274255:p.Gly200Cys					SKP2_uc011cou.1_Intron|SKP2_uc003jkd.2_Missense_Mutation_p.G200C	p.G200C	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	780	+	all_lung(31;5.63e-05)		200			LRR 3.		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.598G>T	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106004	0.37145	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927	T;T	0.45668	0.89;0.89	5.43	2.6	0.31112	.	0.441048	0.27185	N	0.020531	T	0.52533	0.1740	L	0.61218	1.895	0.09310	N	1	D;D	0.76494	0.999;0.995	P;P	0.61874	0.895;0.697	T	0.34551	-0.9824	10	0.56958	D	0.05	-2.8353	7.6535	0.28363	0.2537:0.0:0.7463:0.0	.	200;200	Q13309-2;Q13309	.;SKP2_HUMAN	C	200;200;166	ENSP00000274254:G200C;ENSP00000274255:G200C	ENSP00000274254:G200C	G	+	1	0	SKP2	36204233	0.655000	0.27376	0.014000	0.15608	0.409000	0.31022	1.908000	0.39907	1.253000	0.44018	0.563000	0.77884	GGC		PASS	0.507	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		141	333	141	333	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37048604	37048604	+	Splice_Site	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:37048604G>T	ENST00000282516.8	+	39	7089	c.6590G>T	c.(6589-6591)gGa>gTa	p.G2197V	NIPBL_ENST00000448238.2_Splice_Site_p.G2197V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2197					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.G2197V(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTCCCATAGGATTTGCCTTT	0.259																																						uc003jkl.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(6589-6591)GGA>GTA		delangin isoform A							44.0	51.0	49.0					5																	37048604		2136	4273	6409	SO:0001630	splice_region_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37048604G>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6590-1G>T	5.37:g.37048604G>T						NIPBL_uc003jkk.3_Missense_Mutation_p.G2197V|NIPBL_uc003jkn.2_5'Flank	p.G2197V	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		39	7089	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2197					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6590G>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628313	0.67015	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.67698	-0.28;-0.28	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83674	0.0168	9	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	2197;2197	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	2197	ENSP00000282516:G2197V;ENSP00000406266:G2197V	.	G	+	2	0	NIPBL	37084361	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.439000	0.97543	2.880000	0.98712	0.650000	0.86243	GGA		PASS	0.259	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Missense_Mutation	38	141	38	141	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37183312	37183312	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:37183312G>C	ENST00000508244.1	-	25	5064	c.4971C>G	c.(4969-4971)atC>atG	p.I1657M	C5orf42_ENST00000274258.7_Missense_Mutation_p.I538M|C5orf42_ENST00000425232.2_Missense_Mutation_p.I1657M			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1657						integral component of membrane (GO:0016021)		p.I1657M(1)|p.I538M(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAAAAGGTTTGATCCCTTGAT	0.308																																						uc011cpa.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|skin(1)	7						c.(4969-4971)ATC>ATG		hypothetical protein LOC65250							85.0	83.0	84.0					5																	37183312		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37183312G>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4971C>G	5.37:g.37183312G>C	ENSP00000421690:p.Ile1657Met					C5orf42_uc011coy.1_Missense_Mutation_p.I158M|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.I732M|C5orf42_uc011cpb.1_Missense_Mutation_p.I538M	p.I1657M	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		26	5202	-	all_lung(31;0.000616)		1657					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.4971C>G	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242505	0.22796	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.05	0.34	0.15985	.	0.368951	0.19890	N	0.103760	T	0.06962	0.0177	N	0.14661	0.345	0.09310	N	1	B;B	0.24920	0.065;0.114	B;B	0.20955	0.022;0.032	T	0.21827	-1.0234	10	0.44086	T	0.13	.	0.941	0.01355	0.2391:0.1265:0.3548:0.2796	.	1657;538	E9PH94;Q9H799	.;CE042_HUMAN	M	1657;1657;538;705;538	ENSP00000421690:I1657M;ENSP00000389014:I1657M;ENSP00000274258:I538M;ENSP00000424223:I705M	ENSP00000274258:I538M	I	-	3	3	C5orf42	37219069	0.000000	0.05858	0.004000	0.12327	0.142000	0.21351	-0.030000	0.12308	0.531000	0.28639	0.655000	0.94253	ATC		PASS	0.308	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		12	89	12	89	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37183337	37183337	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:37183337G>A	ENST00000508244.1	-	25	5039	c.4946C>T	c.(4945-4947)tCa>tTa	p.S1649L	C5orf42_ENST00000274258.7_Missense_Mutation_p.S530L|C5orf42_ENST00000425232.2_Missense_Mutation_p.S1649L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1649						integral component of membrane (GO:0016021)		p.S530L(1)|p.S1649L(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAGTACTGATGATGAAAGTTT	0.333																																						uc011cpa.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|skin(1)	7						c.(4945-4947)TCA>TTA		hypothetical protein LOC65250							100.0	98.0	99.0					5																	37183337		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37183337G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4946C>T	5.37:g.37183337G>A	ENSP00000421690:p.Ser1649Leu					C5orf42_uc011coy.1_Missense_Mutation_p.S150L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.S724L|C5orf42_uc011cpb.1_Missense_Mutation_p.S530L	p.S1649L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		26	5177	-	all_lung(31;0.000616)		1649					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.4946C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233894	0.39498	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.05	4.17	0.49024	.	1.100290	0.07113	N	0.842449	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.07947	-1.0746	10	0.72032	D	0.01	.	5.9764	0.19382	0.1527:0.0:0.6695:0.1777	.	1649;530	E9PH94;Q9H799	.;CE042_HUMAN	L	1649;1649;530;697;530	ENSP00000421690:S1649L;ENSP00000389014:S1649L;ENSP00000274258:S530L;ENSP00000424223:S697L	ENSP00000274258:S530L	S	-	2	0	C5orf42	37219094	0.052000	0.20516	0.021000	0.16686	0.013000	0.08279	2.394000	0.44450	2.356000	0.79943	0.655000	0.94253	TCA		PASS	0.333	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		13	104	13	104	---	---	---	---
GDNF	2668	broad.mit.edu	37	5	37816081	37816081	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:37816081G>C	ENST00000326524.2	-	3	507	c.308C>G	c.(307-309)tCc>tGc	p.S103C	GDNF_ENST00000427982.1_Missense_Mutation_p.S120C|GDNF_ENST00000381826.4_Missense_Mutation_p.S94C|GDNF_ENST00000515058.1_Missense_Mutation_p.S77C|GDNF_ENST00000344622.4_Missense_Mutation_p.S77C	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	103					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S120C(1)|p.S103C(1)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TTTTCCTCTGGAATTCTCTGG	0.493																																						uc011cpi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(307-309)TCC>TGC		glial cell derived neurotrophic factor isoform 1							82.0	90.0	88.0					5																	37816081		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37816081G>C		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.308C>G	5.37:g.37816081G>C	ENSP00000317145:p.Ser103Cys					GDNF_uc011cpc.1_Missense_Mutation_p.S25C|GDNF_uc011cpd.1_Missense_Mutation_p.S51C|GDNF_uc011cpe.1_Missense_Mutation_p.S77C|GDNF_uc011cpf.1_Missense_Mutation_p.S77C|GDNF_uc011cpg.1_Missense_Mutation_p.S120C|GDNF_uc011cph.1_Missense_Mutation_p.S94C	p.S103C	NM_000514	NP_000505	P39905	GDNF_HUMAN			3	508	-	all_lung(31;0.00118)		103					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.308C>G	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820540	0.32145	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.94330	-3.36;-3.33;-3.33;-3.4;-3.35	5.18	5.18	0.71444	Transforming growth factor-beta, C-terminal (1);	0.665214	0.16409	N	0.215686	D	0.95162	0.8432	M	0.64997	1.995	0.50813	D	0.99989	P;P;D;P	0.53885	0.621;0.956;0.963;0.82	B;P;P;B	0.54026	0.299;0.74;0.518;0.391	D	0.95023	0.8162	10	0.62326	D	0.03	-28.7974	19.5773	0.95450	0.0:0.0:1.0:0.0	.	103;94;120;77	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	C	103;77;77;120;94	ENSP00000317145:S103C;ENSP00000339703:S77C;ENSP00000425928:S77C;ENSP00000409007:S120C;ENSP00000371248:S94C	ENSP00000317145:S103C	S	-	2	0	GDNF	37851838	1.000000	0.71417	0.397000	0.26308	0.603000	0.37013	5.154000	0.64894	2.806000	0.96561	0.655000	0.94253	TCC		PASS	0.493	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		29	167	29	167	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38921868	38921868	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:38921868C>T	ENST00000274276.3	+	12	2139	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	579	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.P579P(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATGTAGGTCCCAATACCACAA	0.453																																						uc003jln.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1735-1737)CCC>CCT		oncostatin M receptor precursor							187.0	172.0	177.0					5																	38921868		2203	4300	6503	SO:0001819	synonymous_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38921868C>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1737C>T	5.37:g.38921868C>T						OSMR_uc011cpj.1_5'UTR	p.P579P	NM_003999	NP_003990	Q99650	OSMR_HUMAN			12	2104	+	all_lung(31;0.000365)		579			Fibronectin type-III 3.|Extracellular (Potential).		Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	c.1737C>T	CCDS3928.1																																																																																				PASS	0.453	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		57	98	57	98	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41051135	41051135	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:41051135C>T	ENST00000399564.4	-	13	1738	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	430								p.E430K(1)									AGGCTTGTTTCTCGGACAGAT	0.408																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(1288-1290)GAA>AAA		HEAT repeat family member 7B2							87.0	88.0	88.0					5																	41051135		1843	4087	5930	SO:0001583	missense	133558						binding	g.chr5:41051135C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1288G>A	5.37:g.41051135C>T	ENSP00000382476:p.Glu430Lys					HEATR7B2_uc003jmi.3_5'UTR	p.E430K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			13	1778	-			430			HEAT 5.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1288G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	6.965	0.547896	0.13312	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.68624	-0.34	5.36	4.46	0.54185	Armadillo-type fold (1);	0.396820	0.21702	N	0.070411	T	0.47619	0.1455	N	0.19112	0.55	0.21604	N	0.999627	B	0.33612	0.419	B	0.34652	0.187	T	0.31138	-0.9954	10	0.07813	T	0.8	.	12.1524	0.54057	0.0:0.8289:0.1711:0.0	.	430	Q7Z745	HTRB2_HUMAN	K	134;430	ENSP00000382476:E430K	ENSP00000296803:E134K	E	-	1	0	HEATR7B2	41086892	0.211000	0.23529	0.979000	0.43373	0.408000	0.30992	1.592000	0.36676	2.512000	0.84698	0.655000	0.94253	GAA		PASS	0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		6	57	6	57	---	---	---	---
PAIP1	10605	broad.mit.edu	37	5	43547890	43547890	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:43547890C>T	ENST00000306846.3	-	3	793	c.561G>A	c.(559-561)ctG>ctA	p.L187L	PAIP1_ENST00000436644.2_Silent_p.L108L|PAIP1_ENST00000338972.4_Silent_p.L75L|PAIP1_ENST00000514514.1_Silent_p.L108L	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	187	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.L187L(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CACAACCATTCAGGGTCTCTG	0.388																																						uc003job.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(559-561)CTG>CTA		poly(A) binding protein interacting protein 1							93.0	92.0	92.0					5																	43547890		2203	4300	6503	SO:0001819	synonymous_variant	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43547890C>T	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.561G>A	5.37:g.43547890C>T						PAIP1_uc003joa.2_Silent_p.L108L|PAIP1_uc010ivp.2_Silent_p.L108L|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Silent_p.L75L	p.L187L	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			3	808	-	Lung NSC(6;2.07e-05)		187			MIF4G.		A6NKV8|O60455|Q96B61|Q9BS63	Silent	SNP	ENST00000306846.3	37	c.561G>A	CCDS3947.1																																																																																				PASS	0.388	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		63	158	63	158	---	---	---	---
MRPS30	10884	broad.mit.edu	37	5	44809298	44809298	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:44809298G>A	ENST00000507110.1	+	1	272	c.234G>A	c.(232-234)gaG>gaA	p.E78E	RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	78					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E78E(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CGGTAGACGAGAAGCTGCGAA	0.597																																						uc003joh.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(232-234)GAG>GAA		mitochondrial ribosomal protein S30							31.0	34.0	33.0					5																	44809298		2203	4300	6503	SO:0001819	synonymous_variant	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809298G>A	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.234G>A	5.37:g.44809298G>A						MRPS30_uc003joi.1_5'Flank	p.E78E	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			1	272	+	Lung NSC(6;8.08e-07)		78					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	ENST00000507110.1	37	c.234G>A	CCDS3951.1																																																																																				PASS	0.597	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		4	21	4	21	---	---	---	---
MRPS30	10884	broad.mit.edu	37	5	44813255	44813255	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:44813255C>T	ENST00000507110.1	+	4	939	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	301					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L301L(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CCAGTTTCATCTGTTACCTGA	0.383																																						uc003joh.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(901-903)CTG>TTG		mitochondrial ribosomal protein S30							105.0	103.0	104.0					5																	44813255		2203	4300	6503	SO:0001819	synonymous_variant	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44813255C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.901C>T	5.37:g.44813255C>T							p.L301L	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			4	939	+	Lung NSC(6;8.08e-07)		301					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	ENST00000507110.1	37	c.901C>T	CCDS3951.1																																																																																				PASS	0.383	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		20	172	20	172	---	---	---	---
ACTBL2	345651	broad.mit.edu	37	5	56778368	56778368	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:56778368C>G	ENST00000423391.1	-	1	268	c.167G>C	c.(166-168)gGa>gCa	p.G56A	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	56						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.G56A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AGCCTCATCTCCCACGTAGCA	0.582																																						uc003jrm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(166-168)GGA>GCA		actin, beta-like 2							100.0	75.0	83.0					5																	56778368		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778368C>G		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.167G>C	5.37:g.56778368C>G	ENSP00000416706:p.Gly56Ala						p.G56A	NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	269	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	56					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.167G>C	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064989	0.36470	.	.	ENSG00000169067	ENST00000423391	D	0.96073	-3.9	4.93	4.93	0.64822	Actin, conserved site (1);	0.000000	0.64402	D	0.000006	D	0.98896	0.9626	H	0.99619	4.66	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98908	1.0779	10	0.87932	D	0	.	15.685	0.77402	0.0:1.0:0.0:0.0	.	56	Q562R1	ACTBL_HUMAN	A	56	ENSP00000416706:G56A	ENSP00000416706:G56A	G	-	2	0	ACTBL2	56814125	1.000000	0.71417	0.997000	0.53966	0.394000	0.30568	7.645000	0.83430	2.552000	0.86080	0.563000	0.77884	GGA		PASS	0.582	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		5	26	5	26	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67592064	67592064	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:67592064G>C	ENST00000521381.1	+	15	2496	c.1880G>C	c.(1879-1881)gGa>gCa	p.G627A	PIK3R1_ENST00000320694.8_Missense_Mutation_p.G327A|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G264A|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G635A|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G627A|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G357A|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G627A	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	627	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G327A(1)|p.G627A(1)|p.0?(1)|p.?(1)|p.G357A(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGGAATGTTGGAAGCAGCAAC	0.473			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		5	Substitution - Missense(3)|Whole gene deletion(1)|Unknown(1)	p.?(1)	lung(4)|large_intestine(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1879-1881)GGA>GCA		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						186.0	171.0	176.0					5																	67592064		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67592064G>C	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1880G>C	5.37:g.67592064G>C	ENSP00000428056:p.Gly627Ala	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.G627A|PIK3R1_uc003jvc.2_Missense_Mutation_p.G327A|PIK3R1_uc003jvd.2_Missense_Mutation_p.G357A|PIK3R1_uc003jve.2_Missense_Mutation_p.G306A	p.G627A	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	15	2440	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	627			SH2 2.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1880G>C	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574541	0.65878	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	D;D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.15	5.15	0.70609	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.95085	0.8408	M	0.85542	2.76	0.80722	D	1	P;P;D	0.65815	0.952;0.908;0.995	P;P;P	0.61940	0.479;0.479;0.896	D	0.93571	0.6904	10	0.27785	T	0.31	-20.3718	18.8075	0.92043	0.0:0.0:1.0:0.0	.	357;327;627	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	A	627;627;635;627;327;357;264	ENSP00000428056:G627A;ENSP00000429277:G627A;ENSP00000379855:G635A;ENSP00000274335:G627A;ENSP00000323512:G327A;ENSP00000338554:G357A;ENSP00000430098:G264A	ENSP00000274335:G627A	G	+	2	0	PIK3R1	67627820	1.000000	0.71417	0.597000	0.28824	0.838000	0.47535	6.453000	0.73488	2.689000	0.91719	0.650000	0.86243	GGA		PASS	0.473	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		20	94	20	94	---	---	---	---
FAM169A	26049	broad.mit.edu	37	5	74134873	74134873	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:74134873C>A	ENST00000389156.4	-	4	325	c.235G>T	c.(235-237)Gtg>Ttg	p.V79L	FAM169A_ENST00000510496.1_Missense_Mutation_p.V79L|FAM169A_ENST00000380515.3_Missense_Mutation_p.V79L	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	79						membrane (GO:0016020)|nucleus (GO:0005634)		p.V79L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TAAAGTGCCACAGCTAAAATA	0.333																																						uc003kdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)GTG>TTG		hypothetical protein LOC26049							155.0	149.0	151.0					5																	74134873		1864	4102	5966	SO:0001583	missense	26049							g.chr5:74134873C>A		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.235G>T	5.37:g.74134873C>A	ENSP00000373808:p.Val79Leu					FAM169A_uc010izm.2_Missense_Mutation_p.V79L|FAM169A_uc003kdl.2_5'UTR	p.V79L	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			4	278	-			79					A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.235G>T	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	c	26.3	4.727280	0.89390	.	.	ENSG00000198780	ENST00000389156;ENST00000510496;ENST00000380515;ENST00000513277;ENST00000514200;ENST00000506954	T;T;T;T;T;T	0.33654	2.78;2.78;2.78;2.78;2.78;1.4	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000015	T	0.56470	0.1987	L	0.55743	1.74	0.58432	D	0.999999	D;D	0.61697	0.99;0.99	D;P	0.68483	0.958;0.855	T	0.50329	-0.8841	10	0.39692	T	0.17	-15.9004	19.4739	0.94976	0.0:1.0:0.0:0.0	.	79;79	D6RB01;Q9Y6X4	.;F169A_HUMAN	L	79	ENSP00000373808:V79L;ENSP00000424578:V79L;ENSP00000369886:V79L;ENSP00000423631:V79L;ENSP00000423883:V79L;ENSP00000421451:V79L	ENSP00000369886:V79L	V	-	1	0	FAM169A	74170629	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.456000	0.60081	2.603000	0.88011	0.655000	0.94253	GTG		PASS	0.333	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			52	181	52	181	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80408537	80408537	+	Silent	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:80408537A>G	ENST00000265080.4	+	14	2014	c.1947A>G	c.(1945-1947)gaA>gaG	p.E649E	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	649	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E649E(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCCTCTTGGAACGACTGACAG	0.488																																						uc003kha.1																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(1945-1947)GAA>GAG		Ras protein-specific guanine							218.0	212.0	214.0					5																	80408537		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408537A>G	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1947A>G	5.37:g.80408537A>G						RASGRF2_uc011ctn.1_RNA	p.E649E	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	1947	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	649			N-terminal Ras-GEF.		B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.1947A>G	CCDS4052.1																																																																																				PASS	0.488	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		70	251	70	251	---	---	---	---
XRCC4	7518	broad.mit.edu	37	5	82554407	82554407	+	Silent	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:82554407A>T	ENST00000511817.1	+	7	884	c.804A>T	c.(802-804)ccA>ccT	p.P268P	XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000338635.6_Silent_p.P268P|XRCC4_ENST00000396027.4_Silent_p.P268P|XRCC4_ENST00000282268.3_Silent_p.P268P			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	268					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)	p.P268P(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		ATATTGCACCAAGTAGAAAAA	0.363								Non-homologous end-joining																														uc003kib.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(802-804)CCA>CCT	NHEJ	X-ray repair cross complementing protein 4							123.0	125.0	125.0					5																	82554407		2203	4299	6502	SO:0001819	synonymous_variant	7518				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding	g.chr5:82554407A>T	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.804A>T	5.37:g.82554407A>T						XRCC4_uc003kia.1_Silent_p.P268P|XRCC4_uc003kid.2_Silent_p.P268P|XRCC4_uc003kic.2_Silent_p.P268P|XRCC4_uc003kie.2_Silent_p.P268P|XRCC4_uc003kif.1_Silent_p.P268P|XRCC4_uc003kig.2_RNA	p.P268P	NM_022406	NP_071801	Q13426	XRCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)	7	932	+		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)	268					A8K3X4|Q9BS72|Q9UP94	Silent	SNP	ENST00000511817.1	37	c.804A>T	CCDS4059.1																																																																																				PASS	0.363	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		27	117	27	117	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82833254	82833254	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:82833254G>C	ENST00000265077.3	+	8	4997	c.4432G>C	c.(4432-4434)Gaa>Caa	p.E1478Q	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.E491Q|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1478	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.E1478Q(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGAGTCTCTTGAAGTTACATG	0.423																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(4432-4434)GAA>CAA		versican isoform 1 precursor							80.0	78.0	78.0					5																	82833254		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82833254G>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4432G>C	5.37:g.82833254G>C	ENSP00000265077:p.Glu1478Gln					VCAN_uc003kij.3_Missense_Mutation_p.E491Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E142Q	p.E1478Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	4788	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1478			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.4432G>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330345	0.81690	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.87809	-2.3;-2.27;2.84	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000003	D	0.93759	0.8005	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.984	D	0.93158	0.6555	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	491;1478	P13611-2;P13611	.;CSPG2_HUMAN	Q	1478;491;491	ENSP00000265077:E1478Q;ENSP00000340062:E491Q;ENSP00000426251:E491Q	ENSP00000265077:E1478Q	E	+	1	0	VCAN	82869010	1.000000	0.71417	0.895000	0.35142	0.582000	0.36321	4.818000	0.62657	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		27	75	27	75	---	---	---	---
POU5F2	134187	broad.mit.edu	37	5	93076968	93076968	+	Missense_Mutation	SNP	G	G	A	rs550301121		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:93076968G>A	ENST00000510627.4	-	1	375	c.302C>T	c.(301-303)cCg>cTg	p.P101L	FAM172A_ENST00000505869.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	101					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GTAGGGCCCCGGGAGGGCGCC	0.637																																						uc003kkl.1																			0					0						c.(301-303)CCG>CTG		POU domain class 5, transcription factor 2							34.0	35.0	35.0					5																	93076968		1871	4097	5968	SO:0001583	missense	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93076968G>A		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.302C>T	5.37:g.93076968G>A	ENSP00000464890:p.Pro101Leu					FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	p.P101L	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	342	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	101					Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	c.302C>T	CCDS59489.1																																																																																				PASS	0.637	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		12	43	12	43	---	---	---	---
ARSK	153642	broad.mit.edu	37	5	94903634	94903634	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:94903634G>C	ENST00000380009.4	+	3	502	c.297G>C	c.(295-297)tgG>tgC	p.W99C		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	99					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.W99C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CAGAATCTTGGAATAATTTTA	0.363																																						uc003kld.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(295-297)TGG>TGC		arylsulfatase K precursor							83.0	83.0	83.0					5																	94903634		2203	4299	6502	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94903634G>C		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.297G>C	5.37:g.94903634G>C	ENSP00000369346:p.Trp99Cys					ARSK_uc010jbg.2_5'UTR|ARSK_uc011cum.1_RNA	p.W99C	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	3	455	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	99					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.297G>C	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325224	0.81580	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.98550	-4.99	5.72	5.72	0.89469	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99840	1.1061	10	0.72032	D	0.01	-7.2562	19.8752	0.96867	0.0:0.0:1.0:0.0	.	99	Q6UWY0	ARSK_HUMAN	C	99	ENSP00000369346:W99C	ENSP00000369346:W99C	W	+	3	0	ARSK	94929390	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.699000	0.92147	0.591000	0.81541	TGG		PASS	0.363	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		18	73	18	73	---	---	---	---
ELL2	22936	broad.mit.edu	37	5	95224604	95224604	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:95224604C>T	ENST00000237853.4	-	12	2243	c.1894G>A	c.(1894-1896)Gac>Aac	p.D632N	ELL2_ENST00000431061.2_Missense_Mutation_p.D382N	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	632					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.D632N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGCTGTTGGTCAAATTCACCT	0.363																																						uc003klr.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1894-1896)GAC>AAC		elongation factor, RNA polymerase II, 2							63.0	59.0	60.0					5																	95224604		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95224604C>T	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1894G>A	5.37:g.95224604C>T	ENSP00000237853:p.Asp632Asn						p.D632N	NM_012081	NP_036213	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	12	2244	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	632					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.1894G>A	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382298	0.61845	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	T;T	0.34859	1.34;1.34	5.88	5.88	0.94601	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	M	0.92784	3.345	0.80722	D	1	B	0.28350	0.208	B	0.37304	0.246	T	0.64537	-0.6384	10	0.87932	D	0	-12.6351	19.8331	0.96643	0.0:1.0:0.0:0.0	.	632	O00472	ELL2_HUMAN	N	632;382	ENSP00000237853:D632N;ENSP00000399704:D382N	ENSP00000237853:D632N	D	-	1	0	ELL2	95250360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.933000	0.63484	2.779000	0.95612	0.650000	0.86243	GAC		PASS	0.363	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		12	101	12	101	---	---	---	---
ELL2	22936	broad.mit.edu	37	5	95224673	95224673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:95224673C>A	ENST00000237853.4	-	12	2174	c.1825G>T	c.(1825-1827)Gaa>Taa	p.E609*	ELL2_ENST00000431061.2_Nonsense_Mutation_p.E359*	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	609					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.E609*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TATTTTTCTTCATGGTAATTG	0.348																																						uc003klr.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1825-1827)GAA>TAA		elongation factor, RNA polymerase II, 2							49.0	45.0	46.0					5																	95224673		2202	4299	6501	SO:0001587	stop_gained	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95224673C>A	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1825G>T	5.37:g.95224673C>A	ENSP00000237853:p.Glu609*						p.E609*	NM_012081	NP_036213	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	12	2175	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	609					B4DNK7	Nonsense_Mutation	SNP	ENST00000237853.4	37	c.1825G>T	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754840	0.89843	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	.	.	.	5.88	5.88	0.94601	.	0.141683	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-2.7059	19.8331	0.96643	0.0:1.0:0.0:0.0	.	.	.	.	X	609;359	.	ENSP00000237853:E609X	E	-	1	0	ELL2	95250429	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.222000	0.51223	2.779000	0.95612	0.650000	0.86243	GAA		PASS	0.348	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		11	49	11	49	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98262090	98262090	+	Start_Codon_SNP	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:98262090T>C	ENST00000284049.3	-	1	150	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CTD-2007H13.3_ENST00000513175.1_lincRNA	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1	Ser-rich.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.M1V(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGTCCATTCATTGTAAATTAT	0.279																																						uc003knf.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(1-3)ATG>GTG		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						93.0	91.0	92.0					5																	98262090		2200	4294	6494	SO:0001582	initiator_codon_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98262090T>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1A>G	5.37:g.98262090T>C	ENSP00000284049:p.Met1Val						p.M1V	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	1	149	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1			Ser-rich.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.1A>G	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395099	0.42512	.	.	ENSG00000153922	ENST00000284049;ENST00000540681	D	0.88818	-2.43	5.26	5.26	0.73747	.	0.000000	0.40469	U	0.001094	D	0.86843	0.6030	.	.	.	0.80722	D	1	B	0.31435	0.323	B	0.38194	0.267	D	0.84877	0.0828	9	0.37606	T	0.19	.	12.6972	0.57010	0.0:0.0:0.0:1.0	.	1	O14646	CHD1_HUMAN	V	1	ENSP00000284049:M1V	ENSP00000284049:M1V	M	-	1	0	CHD1	98289990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.776000	0.62354	1.974000	0.57490	0.460000	0.39030	ATG		PASS	0.279	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	Missense_Mutation	18	51	18	51	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112487112	112487112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:112487112G>T	ENST00000302475.4	-	2	628	c.65C>A	c.(64-66)tCa>tAa	p.S22*	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Nonsense_Mutation_p.S212*|MCC_ENST00000515367.2_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	22					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S212*(1)|p.S22*(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGGGCTGCTGAATGGAGCTG	0.443																																						uc003kqj.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(64-66)TCA>TAA		mutated in colorectal cancers isoform 2							73.0	66.0	69.0					5																	112487112		2202	4300	6502	SO:0001587	stop_gained	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112487112G>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.65C>A	5.37:g.112487112G>T	ENSP00000305617:p.Ser22*					MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Nonsense_Mutation_p.S212*|MCC_uc011cwb.1_Nonsense_Mutation_p.S22*|MCC_uc010jcd.1_Intron	p.S22*	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	2	595	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	22					D3DT05|Q6ZR04	Nonsense_Mutation	SNP	ENST00000302475.4	37	c.65C>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	41	9.147312	0.99080	.	.	ENSG00000171444	ENST00000302475;ENST00000408903	.	.	.	5.25	4.06	0.47325	.	0.204171	0.34362	N	0.004026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-1.1931	8.7282	0.34483	0.8987:0.0:0.1013:0.0	.	.	.	.	X	22;212	.	ENSP00000305617:S22X	S	-	2	0	MCC	112515011	1.000000	0.71417	0.913000	0.36048	0.994000	0.84299	5.082000	0.64450	0.977000	0.38444	0.561000	0.74099	TCA		PASS	0.443	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		19	41	19	41	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113831614	113831614	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:113831614T>A	ENST00000512097.3	+	9	2493	c.1475T>A	c.(1474-1476)aTg>aAg	p.M492K	KCNN2_ENST00000264773.3_Missense_Mutation_p.M492K|KCNN2_ENST00000507750.1_3'UTR|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Missense_Mutation_p.M144K			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	492					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.M492K(1)|p.M144K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ATGTATGATATGATTTCTGAC	0.418																																						uc003kqo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1474-1476)ATG>AAG		small conductance calcium-activated potassium							103.0	108.0	107.0					5																	113831614		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831614T>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1475T>A	5.37:g.113831614T>A	ENSP00000427120:p.Met492Lys					KCNN2_uc003kqp.2_Missense_Mutation_p.M144K|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.M492K	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	8	1932	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	492					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1475T>A	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201535	0.58234	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.98345	-4.88;-3.26	5.28	5.28	0.74379	.	0.034667	0.85682	D	0.000000	D	0.96700	0.8923	L	0.56769	1.78	0.80722	D	1	B	0.29378	0.243	B	0.25759	0.063	D	0.96025	0.9012	10	0.87932	D	0	.	14.9059	0.70718	0.0:0.0:0.0:1.0	.	492	Q9H2S1	KCNN2_HUMAN	K	492;144	ENSP00000264773:M492K;ENSP00000421439:M144K	ENSP00000264773:M492K	M	+	2	0	KCNN2	113859513	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.552000	0.82192	2.009000	0.58944	0.523000	0.50628	ATG		PASS	0.418	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		58	197	58	197	---	---	---	---
ZNF474	133923	broad.mit.edu	37	5	121487777	121487777	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:121487777G>T	ENST00000296600.4	+	2	475	c.92G>T	c.(91-93)gGg>gTg	p.G31V	CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	31							metal ion binding (GO:0046872)	p.G31V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AACCAAGCTGGGCTTCTCTCT	0.383																																						uc003ksv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GGG>GTG		zinc finger protein 474							91.0	98.0	95.0					5																	121487777		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121487777G>T	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.92G>T	5.37:g.121487777G>T	ENSP00000296600:p.Gly31Val						p.G31V	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	468	+		all_cancers(142;0.229)|Prostate(80;0.0387)	31					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.92G>T	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.321686	0.00232	.	.	ENSG00000164185	ENST00000296600;ENST00000504912;ENST00000505843	T	0.54675	0.56	1.16	1.16	0.20824	.	.	.	.	.	T	0.27384	0.0672	N	0.08118	0	0.09310	N	1	P	0.42827	0.791	B	0.37943	0.261	T	0.08289	-1.0729	9	0.41790	T	0.15	.	6.0414	0.19736	0.0:0.0:1.0:0.0	.	31	Q6S9Z5	ZN474_HUMAN	V	31	ENSP00000296600:G31V	ENSP00000296600:G31V	G	+	2	0	ZNF474	121515676	0.001000	0.12720	0.000000	0.03702	0.149000	0.21700	0.862000	0.27899	0.458000	0.26988	0.467000	0.42956	GGG		PASS	0.383	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		54	196	54	196	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127671680	127671680	+	Splice_Site	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:127671680C>G	ENST00000508053.1	-	34	4698	c.3724G>C	c.(3724-3726)Gat>Cat	p.D1242H	FBN2_ENST00000507835.1_Splice_Site_p.D92H|FBN2_ENST00000508989.1_Splice_Site_p.D1209H|FBN2_ENST00000262464.4_Splice_Site_p.D1242H			P35556	FBN2_HUMAN	fibrillin 2	1242	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.D1242H(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCCCCTTACCTGTACAGCCC	0.458																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3724-3726)GAT>CAT		fibrillin 2 precursor							71.0	63.0	65.0					5																	127671680		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127671680C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3724+1G>C	5.37:g.127671680C>G						FBN2_uc003kuv.2_Missense_Mutation_p.D1209H	p.D1242H	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	28	4163	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1242			EGF-like 19; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3724G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627797	0.87560	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.94457	-2.34;-2.34;-3.43;-2.37	4.7	4.7	0.59300	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000009	D	0.98137	0.9385	H	0.95294	3.65	0.80722	D	1	P;D	0.76494	0.927;0.999	P;D	0.81914	0.463;0.995	D	0.99271	1.0893	9	.	.	.	.	18.2019	0.89840	0.0:1.0:0.0:0.0	.	1209;1242	D6RJI3;P35556	.;FBN2_HUMAN	H	1242;1242;92;1209	ENSP00000262464:D1242H;ENSP00000424571:D1242H;ENSP00000426839:D92H;ENSP00000425596:D1209H	.	D	-	1	0	FBN2	127699579	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.609000	0.82925	2.614000	0.88457	0.467000	0.42956	GAT		PASS	0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Missense_Mutation	13	36	13	36	---	---	---	---
CAMLG	819	broad.mit.edu	37	5	134086449	134086449	+	Splice_Site	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:134086449A>T	ENST00000297156.2	+	4	820	c.700A>T	c.(700-702)Agt>Tgt	p.S234C	CAMLG_ENST00000514518.1_Splice_Site_p.E80V	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	234					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S234C(1)		NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	CTCTACACAGAGTGAAAAGAA	0.358																																						uc003kzt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)AGT>TGT		calcium modulating ligand	Cyclosporine(DB00091)						94.0	99.0	97.0					5																	134086449		2203	4300	6503	SO:0001630	splice_region_variant	819				defense response	endoplasmic reticulum|integral to membrane		g.chr5:134086449A>T	AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"""calcium-modulating cyclophilin ligand"", ""calcium-signal modulating cyclophilin ligand"", ""cyclophilin B-binding protein"""	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.700-1A>T	5.37:g.134086449A>T						CAMLG_uc003kzu.2_Missense_Mutation_p.E80V	p.S234C	NM_001745	NP_001736	P49069	CAMLG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	805	+			234			Extracellular (Potential).		A1L3Y3	Missense_Mutation	SNP	ENST00000297156.2	37	c.700A>T	CCDS4178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.30|14.30	2.494149|2.494149	0.44352|0.44352	.|.	.|.	ENSG00000164615|ENSG00000164615	ENST00000514518|ENST00000297156	.|T	.|0.33438	.|1.41	5.02|5.02	-2.53|-2.53	0.06326|0.06326	.|.	.|0.654924	.|0.17474	.|N	.|0.172973	T|T	0.20047|0.20047	0.0482|0.0482	L|L	0.44542|0.44542	1.39|1.39	0.24453|0.24453	N|N	0.994473|0.994473	B|B	0.12013|0.02656	0.005|0.0	B|B	0.15484|0.06405	0.013|0.002	T|T	0.20940|0.20940	-1.0260|-1.0260	7|9	.|.	.|.	.|.	-1.4695|-1.4695	8.2811|8.2811	0.31900|0.31900	0.5514:0.0:0.3472:0.1014|0.5514:0.0:0.3472:0.1014	.|.	80|234	D6RIW3|P49069	.|CAMLG_HUMAN	V|C	80|234	.|ENSP00000297156:S234C	.|.	E|S	+|+	2|1	0|0	CAMLG|CAMLG	134114348|134114348	0.989000|0.989000	0.36119|0.36119	0.442000|0.442000	0.26870|0.26870	0.642000|0.642000	0.38348|0.38348	0.151000|0.151000	0.16283|0.16283	-0.401000|-0.401000	0.07644|0.07644	0.260000|0.260000	0.18958|0.18958	GAG|AGT		PASS	0.358	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251161.1	NM_001745	Missense_Mutation	13	62	13	62	---	---	---	---
DDX46	9879	broad.mit.edu	37	5	134131738	134131738	+	Missense_Mutation	SNP	G	G	C	rs376188295		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:134131738G>C	ENST00000354283.4	+	15	1987	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	DDX46_ENST00000452510.2_Missense_Mutation_p.E618Q			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	618	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E618Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATTATCAAGAGTCAGGATC	0.348																																					Colon(13;391 453 4901 21675 24897)	uc003kzw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1852-1854)GAG>CAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46		G	GLN/GLU	0,4406		0,0,2203	148.0	140.0	143.0		1852	4.9	1.0	5		143	2,8598	2.2+/-6.3	0,2,4298	no	missense	DDX46	NM_014829.2	29	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	benign	618/1032	134131738	2,13004	2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134131738G>C		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1852G>C	5.37:g.134131738G>C	ENSP00000346236:p.Glu618Gln					DDX46_uc003kzv.1_RNA	p.E618Q	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		15	2020	+			618			Helicase C-terminal.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.1852G>C	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813311	0.70912	0.0	2.33E-4	ENSG00000145833	ENST00000452510;ENST00000354283	D;D	0.92545	-3.06;-3.06	4.92	4.92	0.64577	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	L	0.37850	1.14	0.80722	D	1	B	0.33904	0.431	B	0.34301	0.179	D	0.89133	0.3511	10	0.59425	D	0.04	-18.8296	18.4821	0.90815	0.0:0.0:1.0:0.0	.	618	Q7L014	DDX46_HUMAN	Q	618	ENSP00000416534:E618Q;ENSP00000346236:E618Q	ENSP00000346236:E618Q	E	+	1	0	DDX46	134159637	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.448000	0.82819	0.491000	0.48974	GAG		PASS	0.348	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		6	118	6	118	---	---	---	---
TXNDC15	79770	broad.mit.edu	37	5	134223872	134223872	+	Splice_Site	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:134223872G>A	ENST00000358387.4	+	2	1216	c.591G>A	c.(589-591)caG>caA	p.Q197Q	TXNDC15_ENST00000546290.1_Splice_Site_p.Q174Q	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	197	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.Q197Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATATGTCACAGGTAAGGAAAA	0.303																																						uc003lac.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(589-591)CAG>CAA		disulfide isomerase precursor							28.0	32.0	31.0					5																	134223872		2156	4279	6435	SO:0001630	splice_region_variant	79770				cell redox homeostasis	integral to membrane		g.chr5:134223872G>A	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.591+1G>A	5.37:g.134223872G>A						TXNDC15_uc010jdy.1_Intron|TXNDC15_uc011cxv.1_RNA	p.Q197Q	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	1249	+			197			Extracellular (Potential).|Thioredoxin.		D3DQA9|Q96MT2|Q9H639	Silent	SNP	ENST00000358387.4	37	c.591G>A	CCDS4180.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960869	0.34565	.	.	ENSG00000113621	ENST00000508779	.	.	.	5.36	3.57	0.40892	.	.	.	.	.	T	0.59390	0.2190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56353	-0.7993	4	.	.	.	-9.8469	9.3808	0.38313	0.2292:0.0:0.7708:0.0	.	.	.	.	K	181	.	.	R	+	2	0	TXNDC15	134251771	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.831000	0.55776	1.264000	0.44198	0.561000	0.74099	AGG		PASS	0.303	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715	Silent	8	67	8	67	---	---	---	---
SLC4A9	83697	broad.mit.edu	37	5	139747319	139747319	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:139747319C>G	ENST00000230993.6	+	16	2297	c.2262C>G	c.(2260-2262)ttC>ttG	p.F754L	SLC4A9_ENST00000506545.1_Missense_Mutation_p.F667L|SLC4A9_ENST00000432095.2_Missense_Mutation_p.F716L|SLC4A9_ENST00000507527.1_Missense_Mutation_p.F754L|SLC4A9_ENST00000506757.2_Missense_Mutation_p.F730L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	754	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.F754L(2)|p.F728L(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGCTTCCACCTGGACC	0.587																																						uc003lfm.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)	1						c.(2260-2262)TTC>TTG		solute carrier family 4, sodium bicarbonate							51.0	53.0	52.0					5																	139747319		2096	4224	6320	SO:0001583	missense	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139747319C>G	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2262C>G	5.37:g.139747319C>G	ENSP00000230993:p.Phe754Leu					SLC4A9_uc003lfj.2_Missense_Mutation_p.F730L|SLC4A9_uc011czg.1_Missense_Mutation_p.F667L|SLC4A9_uc003lfl.2_Missense_Mutation_p.F730L|SLC4A9_uc003lfk.2_Missense_Mutation_p.F716L	p.F754L	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	2297	+			754			Membrane (anion exchange).		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	c.2262C>G	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827980	0.71143	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	4.93	4.93	0.64822	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000003	D	0.85792	0.5779	L	0.58428	1.81	0.50039	D	0.999848	D;D;D;D	0.76494	0.996;0.999;0.999;0.999	P;D;D;D	0.85130	0.869;0.997;0.995;0.995	D	0.85906	0.1437	10	0.87932	D	0	.	8.6852	0.34234	0.0:0.7943:0.0:0.2057	.	667;754;716;730	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	L	754;730;716;667;754	ENSP00000230993:F754L;ENSP00000424424:F730L;ENSP00000410056:F716L;ENSP00000422855:F667L;ENSP00000427661:F754L	ENSP00000230993:F754L	F	+	3	2	SLC4A9	139727503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.412000	0.34714	2.731000	0.93534	0.591000	0.81541	TTC		PASS	0.587	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		3	45	3	45	---	---	---	---
ZMAT2	153527	broad.mit.edu	37	5	140080051	140080051	+	Silent	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:140080051G>T	ENST00000274712.3	+	1	133	c.6G>T	c.(4-6)gcG>gcT	p.A2A		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	2						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A2A(1)		breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGATGGCGTCGGGCAGCG	0.542																																						uc003lgy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(4-6)GCG>GCT		zinc finger, matrin type 2							134.0	141.0	138.0					5																	140080051		2203	4300	6503	SO:0001819	synonymous_variant	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140080051G>T	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.6G>T	5.37:g.140080051G>T							p.A2A	NM_144723	NP_653324	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	20	+			2						Silent	SNP	ENST00000274712.3	37	c.6G>T	CCDS4239.1																																																																																				PASS	0.542	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723		17	65	17	65	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140180824	140180824	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:140180824G>C	ENST00000522353.2	+	1	42	c.42G>C	c.(40-42)ctG>ctC	p.L14L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.L14L	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	14					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L14L(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGTGCCTGCTGCTTTCTC	0.512																																						uc003lhf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(2)	8						c.(40-42)CTG>CTC		protocadherin alpha 3 isoform 1 precursor							71.0	77.0	75.0					5																	140180824		2203	4300	6503	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140180824G>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.42G>C	5.37:g.140180824G>C						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.L14L	p.L14L	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	42	+			14					O75286	Silent	SNP	ENST00000522353.2	37	c.42G>C	CCDS54915.1																																																																																				PASS	0.512	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		20	115	20	115	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229714	140229714	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:140229714T>C	ENST00000532602.1	+	1	2667	c.1634T>C	c.(1633-1635)cTg>cCg	p.L545P	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.L545P|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	545	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.L545P(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCGCCTCTGGGCAGCAAC	0.682																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(1)	5						c.(1633-1635)CTG>CCG		protocadherin alpha 9 isoform 1 precursor							60.0	67.0	65.0					5																	140229714		2195	4266	6461	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229714T>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1634T>C	5.37:g.140229714T>C	ENSP00000436042:p.Leu545Pro					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.L545P	p.L545P	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2358	+			545			Cadherin 5.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1634T>C	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247583	0.59103	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.54675	0.56;0.56	3.39	2.18	0.27775	Cadherin (4);Cadherin-like (1);	0.000000	0.26156	U	0.026019	T	0.79137	0.4395	H	0.97732	4.065	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80688	-0.1271	10	0.87932	D	0	.	9.0104	0.36137	0.1656:0.0:0.0:0.8344	.	545;545	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	P	545	ENSP00000436042:L545P;ENSP00000367362:L545P	ENSP00000367362:L545P	L	+	2	0	PCDHA9	140209898	0.993000	0.37304	0.899000	0.35326	0.732000	0.41865	3.436000	0.52856	0.455000	0.26910	0.260000	0.18958	CTG		PASS	0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		17	97	17	97	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140530988	140530988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:140530988G>T	ENST00000231136.1	+	1	1150	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*	PCDHB6_ENST00000543635.1_Nonsense_Mutation_p.E248*	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	384	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E384*(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTTCAATAGAGAACAATCT	0.463																																						uc003lir.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1150-1152)GAG>TAG		protocadherin beta 6 precursor							129.0	128.0	128.0					5																	140530988		2203	4300	6503	SO:0001587	stop_gained	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530988G>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1150G>T	5.37:g.140530988G>T	ENSP00000231136:p.Glu384*					PCDHB6_uc011dah.1_Nonsense_Mutation_p.E248*	p.E384*	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1150	+			384			Cadherin 4.|Extracellular (Potential).		B2R8R9	Nonsense_Mutation	SNP	ENST00000231136.1	37	c.1150G>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490983	0.84962	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	.	.	.	4.59	-0.392	0.12442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.2839	0.54781	0.0739:0.5537:0.3725:0.0	.	.	.	.	X	248;384;169	.	ENSP00000231136:E384X	E	+	1	0	PCDHB6	140511172	0.000000	0.05858	0.639000	0.29394	0.544000	0.35116	-0.343000	0.07791	0.073000	0.16731	0.561000	0.74099	GAG		PASS	0.463	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		21	168	21	168	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140553281	140553281	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:140553281C>T	ENST00000231137.3	+	1	1039	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L289F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAAGAATTCTCAAAACGTT	0.418																																						uc003lit.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(865-867)CTC>TTC		protocadherin beta 7 precursor							82.0	87.0	85.0					5																	140553281		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553281C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.865C>T	5.37:g.140553281C>T	ENSP00000231137:p.Leu289Phe						p.L289F	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1039	+			289			Extracellular (Potential).|Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.865C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	1.693	-0.503611	0.04261	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.02015	4.5	4.19	4.19	0.49359	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02649	0.0080	L	0.31804	0.96	0.09310	N	1	P	0.44380	0.834	P	0.46389	0.515	T	0.48811	-0.9002	9	0.32370	T	0.25	.	4.433	0.11536	0.1906:0.6267:0.0:0.1828	.	289	Q9Y5E2	PCDB7_HUMAN	F	289;72	ENSP00000231137:L289F	ENSP00000231137:L289F	L	+	1	0	PCDHB7	140533465	0.000000	0.05858	1.000000	0.80357	0.896000	0.52359	-0.429000	0.06982	2.248000	0.74166	0.655000	0.94253	CTC		PASS	0.418	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		32	140	32	140	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588647	140588647	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:140588647G>C	ENST00000239450.2	+	1	357	c.168G>C	c.(166-168)gtG>gtC	p.V56V	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V56V(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTCGAGGTGAGTGAGCTGT	0.517																																						uc003liz.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(166-168)GTG>GTC		protocadherin beta 12 precursor							94.0	104.0	101.0					5																	140588647		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588647G>C	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.168G>C	5.37:g.140588647G>C						PCDHB12_uc011dak.1_Intron	p.V56V	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	357	+			56			Extracellular (Potential).|Cadherin 1.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.168G>C	CCDS4254.1																																																																																				PASS	0.517	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		20	125	20	125	---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140811775	140811775	+	Missense_Mutation	SNP	G	G	C	rs150518735	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:140811775G>C	ENST00000252085.3	+	1	1591	c.1449G>C	c.(1447-1449)gaG>gaC	p.E483D	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	483	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.E483D(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGTGAAGAGAACGCCCAGA	0.562																																						uc003lkt.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1447-1449)GAG>GAC		protocadherin gamma subfamily A, 12 isoform 1							74.0	77.0	76.0					5																	140811775		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811775G>C	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1449G>C	5.37:g.140811775G>C	ENSP00000252085:p.Glu483Asp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.E483D	p.E483D	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1618	+			483			Extracellular (Potential).|Cadherin 5.		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1449G>C	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	0.016	-1.528502	0.00959	.	.	ENSG00000253159	ENST00000252085	T	0.50001	0.76	5.23	0.983	0.19767	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29684	0.0741	L	0.33710	1.025	0.09310	N	0.999995	B;B	0.12630	0.005;0.006	B;B	0.17979	0.018;0.02	T	0.22977	-1.0201	9	0.23891	T	0.37	.	2.0476	0.03564	0.45:0.1264:0.2952:0.1283	.	483;483	O60330-2;O60330	.;PCDGC_HUMAN	D	483	ENSP00000252085:E483D	ENSP00000252085:E483D	E	+	3	2	PCDHGA12	140791959	0.000000	0.05858	0.085000	0.20634	0.015000	0.08874	-0.744000	0.04839	-0.109000	0.12044	0.561000	0.74099	GAG		PASS	0.562	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		5	69	5	69	---	---	---	---
PCDHGC4	56098	broad.mit.edu	37	5	140866045	140866045	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:140866045C>G	ENST00000306593.1	+	1	1305	c.1305C>G	c.(1303-1305)ctC>ctG	p.L435L	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	435	Cadherin 4. {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.L435L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCTCCTCTCAGTACCCACA	0.468																																						uc003lky.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1303-1305)CTC>CTG		protocadherin gamma subfamily C, 4 isoform 1							74.0	70.0	72.0					5																	140866045		2203	4300	6503	SO:0001819	synonymous_variant	56098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140866045C>G	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1305C>G	5.37:g.140866045C>G						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.L435L|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	p.L435L	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1305	+			435			Cadherin 4.|Extracellular (Potential).		Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.1305C>G	CCDS4262.1																																																																																				PASS	0.468	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		29	129	29	129	---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148695757	148695757	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:148695757G>C	ENST00000296721.4	+	11	1256	c.1158G>C	c.(1156-1158)atG>atC	p.M386I	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.M386I	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	386						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M386I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGCTCAATGAGCAGGGCTG	0.592																																						uc003lqh.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(1156-1158)ATG>ATC		actin filament associated protein 1-like 1							62.0	65.0	64.0					5																	148695757		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148695757G>C	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1158G>C	5.37:g.148695757G>C	ENSP00000296721:p.Met386Ile					AFAP1L1_uc010jgy.2_Missense_Mutation_p.M386I|AFAP1L1_uc003lqi.1_Missense_Mutation_p.M1I	p.M386I	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1289	+			386					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.1158G>C	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617792	0.28801	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.10382	2.88;2.88	5.72	4.81	0.61882	.	0.421997	0.32343	N	0.006229	T	0.11879	0.0289	L	0.46157	1.445	0.41166	D	0.986131	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.001	T	0.02868	-1.1100	10	0.56958	D	0.05	-11.2239	12.6845	0.56940	0.0708:0.1291:0.8:0.0	.	386;386	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	I	386	ENSP00000296721:M386I;ENSP00000424427:M386I	ENSP00000296721:M386I	M	+	3	0	AFAP1L1	148675950	1.000000	0.71417	0.998000	0.56505	0.435000	0.31806	3.963000	0.56773	2.706000	0.92434	0.561000	0.74099	ATG		PASS	0.592	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		26	80	26	80	---	---	---	---
SYNPO	11346	broad.mit.edu	37	5	150028853	150028853	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:150028853C>G	ENST00000394243.1	+	3	2122	c.1748C>G	c.(1747-1749)tCa>tGa	p.S583*	SYNPO_ENST00000519664.1_Nonsense_Mutation_p.S339*|SYNPO_ENST00000307662.4_Nonsense_Mutation_p.S339*|SYNPO_ENST00000522122.1_Nonsense_Mutation_p.S583*	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	583					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)	p.S583*(1)|p.S339*(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCCTCCCTCATATTCTGTC	0.607																																						uc003lsn.2																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)	1						c.(1747-1749)TCA>TGA		synaptopodin isoform B							77.0	80.0	79.0					5																	150028853		2203	4300	6503	SO:0001587	stop_gained	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150028853C>G	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1748C>G	5.37:g.150028853C>G	ENSP00000377789:p.Ser583*					SYNPO_uc003lso.3_Nonsense_Mutation_p.S339*|SYNPO_uc003lsp.2_Nonsense_Mutation_p.S339*	p.S583*	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2122	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	583			PPxY motif.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Nonsense_Mutation	SNP	ENST00000394243.1	37	c.1748C>G	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	C	38	7.059258	0.98036	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	.	.	.	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.2493	18.3014	0.90164	0.0:1.0:0.0:0.0	.	.	.	.	X	583;583;339;339	.	ENSP00000302139:S339X	S	+	2	0	SYNPO	150009046	0.998000	0.40836	0.976000	0.42696	0.515000	0.34225	3.120000	0.50430	2.411000	0.81874	0.561000	0.74099	TCA		PASS	0.607	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		31	118	31	118	---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150275763	150275763	+	Silent	SNP	A	A	T	rs533898079		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:150275763A>T	ENST00000274599.5	-	6	1458	c.1038T>A	c.(1036-1038)gtT>gtA	p.V346V	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Silent_p.V310V|ZNF300_ENST00000394226.2_Silent_p.V346V|ZNF300_ENST00000446148.2_Silent_p.V362V	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	346					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.V346V(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGTGTGAACTCTCTGAT	0.413																																						uc003lsy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1036-1038)GTT>GTA		zinc finger protein 300							61.0	66.0	64.0					5																	150275763		2202	4297	6499	SO:0001819	synonymous_variant	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275763A>T	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1038T>A	5.37:g.150275763A>T						IRGM_uc011dcl.1_Intron	p.V346V	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1305	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	346			C2H2-type 3.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP	ENST00000274599.5	37	c.1038T>A	CCDS4311.2																																																																																				PASS	0.413	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		37	146	37	146	---	---	---	---
TNIP1	10318	broad.mit.edu	37	5	150436437	150436437	+	Missense_Mutation	SNP	C	C	T	rs201360054		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:150436437C>T	ENST00000389378.2	-	6	1105	c.517G>A	c.(517-519)Gag>Aag	p.E173K	TNIP1_ENST00000523338.1_Missense_Mutation_p.E173K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E173K|TNIP1_ENST00000524280.1_Missense_Mutation_p.E173K|TNIP1_ENST00000520931.1_Missense_Mutation_p.E120K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E173K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E173K|TNIP1_ENST00000523200.1_Missense_Mutation_p.E173K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E173K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	173	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)	p.E173K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGGCTCCTCGGCACACACA	0.667																																						uc003ltf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(517-519)GAG>AAG		TNFAIP3 interacting protein 1							38.0	39.0	39.0					5																	150436437		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150436437C>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.517G>A	5.37:g.150436437C>T	ENSP00000374029:p.Glu173Lys					TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.E173K|TNIP1_uc010jhn.2_Missense_Mutation_p.E173K|TNIP1_uc011dco.1_Missense_Mutation_p.E173K|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.E173K|TNIP1_uc003ltg.2_Missense_Mutation_p.E120K|TNIP1_uc003ltj.2_Missense_Mutation_p.E173K|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.E120K|TNIP1_uc010jhp.1_Missense_Mutation_p.E120K|TNIP1_uc010jhr.1_Missense_Mutation_p.E173K|TNIP1_uc003ltk.2_Missense_Mutation_p.E173K	p.E173K	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1106	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	173			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.517G>A	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452335	0.63290	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.03	5.03	0.67393	.	0.111849	0.64402	D	0.000018	T	0.45216	0.1331	M	0.76002	2.32	0.49051	D	0.999744	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.988;0.999;0.999;0.999;0.999	P;P;P;P;P;D;D	0.67231	0.823;0.866;0.654;0.866;0.876;0.95;0.95	T	0.27536	-1.0071	10	0.25751	T	0.34	-31.5121	10.4101	0.44287	0.0:0.788:0.1363:0.0756	.	173;127;127;173;173;173;173	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	K	120;173;173;173;130;130;135;173;173;173;173;173;130;120	ENSP00000429891:E120K;ENSP00000374029:E173K;ENSP00000317891:E173K;ENSP00000428243:E173K;ENSP00000428187:E173K;ENSP00000430760:E173K;ENSP00000430971:E173K;ENSP00000429912:E173K;ENSP00000431105:E173K;ENSP00000428487:E120K	ENSP00000317891:E173K	E	-	1	0	TNIP1	150416630	0.999000	0.42202	0.945000	0.38365	0.239000	0.25481	4.136000	0.58004	2.489000	0.83994	0.655000	0.94253	GAG		PASS	0.667	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		10	60	10	60	---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156787316	156787316	+	Silent	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:156787316G>T	ENST00000521420.1	+	24	2857	c.2766G>T	c.(2764-2766)gtG>gtT	p.V922V	CYFIP2_ENST00000541131.1_Silent_p.V873V|CYFIP2_ENST00000347377.6_Silent_p.V948V|CYFIP2_ENST00000435847.2_Silent_p.V647V|CYFIP2_ENST00000377576.3_Silent_p.V948V|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Silent_p.V973V|CYFIP2_ENST00000522463.1_Silent_p.V752V					cytoplasmic FMR1 interacting protein 2									p.V973V(2)|p.V948V(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCAGTATGTGAAAACACTGA	0.507																																						uc003lwq.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(2842-2844)GTG>GTT		cytoplasmic FMR1 interacting protein 2							161.0	162.0	162.0					5																	156787316		2035	4218	6253	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156787316G>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2766G>T	5.37:g.156787316G>T						CYFIP2_uc011ddn.1_Silent_p.V922V|CYFIP2_uc011ddo.1_Silent_p.V752V|CYFIP2_uc003lwr.2_Silent_p.V948V|CYFIP2_uc003lws.2_Silent_p.V948V|CYFIP2_uc003lwt.2_Silent_p.V851V|CYFIP2_uc011ddp.1_Silent_p.V682V	p.V948V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		27	2982	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	973						Silent	SNP	ENST00000521420.1	37	c.2844G>T																																																																																					PASS	0.507	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		33	148	33	148	---	---	---	---
EBF1	1879	broad.mit.edu	37	5	158223456	158223456	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:158223456G>C	ENST00000313708.6	-	9	1088	c.806C>G	c.(805-807)cCg>cGg	p.P269R	EBF1_ENST00000380654.4_Missense_Mutation_p.P238R|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.P261R	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	269	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P269R(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTTCACTCGGGCTGATGGC	0.458			T	HMGA2	lipoma																																	uc010jip.2				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(805-807)CCG>CGG		early B-cell factor							105.0	87.0	93.0					5																	158223456		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158223456G>C	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.806C>G	5.37:g.158223456G>C	ENSP00000322898:p.Pro269Arg					EBF1_uc011ddw.1_Missense_Mutation_p.P137R|EBF1_uc011ddx.1_Missense_Mutation_p.P270R|EBF1_uc003lxl.3_Missense_Mutation_p.P238R	p.P269R	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1108	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	269			IPT/TIG.		Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.806C>G	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727731	0.89390	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	D;D;D	0.94330	-3.4;-3.4;-3.4	5.68	5.68	0.88126	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97300	0.9117	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;0.999;1.0;1.0	D	0.97414	1.0004	10	0.87932	D	0	-5.146	20.1615	0.98135	0.0:0.0:1.0:0.0	.	269;256;269;238	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	R	269;269;238;261	ENSP00000322898:P269R;ENSP00000370029:P238R;ENSP00000428020:P261R	ENSP00000322898:P269R	P	-	2	0	EBF1	158156034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	CCG		PASS	0.458	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		16	46	16	46	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171520427	171520427	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:171520427G>C	ENST00000176763.5	-	9	1886	c.1543C>G	c.(1543-1545)Ctg>Gtg	p.L515V	STK10_ENST00000517775.1_5'UTR	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	515					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.L515V(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)			TTGATGGACAGAGAGCCCATC	0.537																																						uc003mbo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(1543-1545)CTG>GTG		serine/threonine kinase 10							73.0	74.0	74.0					5																	171520427		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171520427G>C	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.1543C>G	5.37:g.171520427G>C	ENSP00000176763:p.Leu515Val						p.L515V	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1843	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	515					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1543C>G	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	8.577	0.881313	0.17467	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.68181	-0.31	5.06	2.22	0.28083	.	0.285585	0.29066	N	0.013257	T	0.50463	0.1617	L	0.47190	1.495	0.33737	D	0.618996	B	0.11235	0.004	B	0.15484	0.013	T	0.49835	-0.8897	10	0.02654	T	1	.	8.8769	0.35352	0.2741:0.0:0.7259:0.0	.	515	O94804	STK10_HUMAN	V	515	ENSP00000176763:L515V	ENSP00000176763:L515V	L	-	1	2	STK10	171453032	0.868000	0.29978	0.991000	0.47740	0.766000	0.43426	1.152000	0.31663	0.626000	0.30322	0.650000	0.86243	CTG		PASS	0.537	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		21	67	21	67	---	---	---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171765617	171765617	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:171765617T>C	ENST00000311601.5	-	13	2662	c.2492A>G	c.(2491-2493)aAg>aGg	p.K831R	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	831					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.K831R(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCTCCAATCTTGCCGGTCCC	0.587																																						uc003mbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2491-2493)AAG>AGG		SH3 and PX domains 2B							52.0	50.0	51.0					5																	171765617		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171765617T>C	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2492A>G	5.37:g.171765617T>C	ENSP00000309714:p.Lys831Arg						p.K831R	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2663	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	831					B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.2492A>G	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	T	3.765	-0.048742	0.07407	.	.	ENSG00000174705	ENST00000311601	T	0.65549	-0.16	4.96	2.54	0.30619	.	0.468826	0.20816	N	0.085142	T	0.44993	0.1320	L	0.34521	1.04	0.20074	N	0.999935	B	0.09022	0.002	B	0.08055	0.003	T	0.23762	-1.0179	9	.	.	.	-12.3509	6.8919	0.24234	0.0:0.2122:0.0:0.7878	.	831	A1X283	SPD2B_HUMAN	R	831	ENSP00000309714:K831R	.	K	-	2	0	SH3PXD2B	171698222	0.991000	0.36638	0.064000	0.19789	0.054000	0.15201	2.117000	0.41939	0.244000	0.21351	0.379000	0.24179	AAG		PASS	0.587	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		5	30	5	30	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176001165	176001165	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:176001165A>G	ENST00000510636.1	+	7	761	c.487A>G	c.(487-489)Ata>Gta	p.I163V	CDHR2_ENST00000506348.1_Missense_Mutation_p.I163V|CDHR2_ENST00000261944.5_Missense_Mutation_p.I163V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	163	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I163V(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CGTGTACTCCATAGAGAAGGT	0.627											OREG0017077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(487-489)ATA>GTA		protocadherin LKC precursor							132.0	117.0	122.0					5																	176001165		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176001165A>G	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.487A>G	5.37:g.176001165A>G	ENSP00000424565:p.Ile163Val		OREG0017077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1927	CDHR2_uc003men.1_Missense_Mutation_p.I163V	p.I163V	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			7	553	+			163			Extracellular (Potential).|Cadherin 2.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.487A>G	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.374641	0.24857	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.61510	0.1;0.1;0.1	4.91	3.71	0.42584	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.55449	0.1921	M	0.78285	2.405	0.51767	D	0.999936	P	0.35612	0.512	B	0.33339	0.162	T	0.57435	-0.7812	9	0.62326	D	0.03	-10.0718	9.1711	0.37081	0.8381:0.0:0.0:0.1619	.	163	Q9BYE9	CDHR2_HUMAN	V	163	ENSP00000424565:I163V;ENSP00000261944:I163V;ENSP00000421078:I163V	ENSP00000261944:I163V	I	+	1	0	CDHR2	175933771	0.999000	0.42202	0.507000	0.27676	0.134000	0.20937	3.361000	0.52306	0.783000	0.33636	0.519000	0.50382	ATA		PASS	0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		6	29	6	29	---	---	---	---
FGFR4	2264	broad.mit.edu	37	5	176520456	176520456	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:176520456G>A	ENST00000292408.4	+	10	1546	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	FGFR4_ENST00000393648.2_Missense_Mutation_p.E383K|FGFR4_ENST00000393637.1_Missense_Mutation_p.R394Q|FGFR4_ENST00000292410.3_Missense_Mutation_p.R394Q|FGFR4_ENST00000502906.1_Missense_Mutation_p.R434Q	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	434					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)	p.R394Q(1)|p.R434Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TCCCTGGTACGAGGCGTGCGT	0.617										TSP Lung(9;0.080)																												uc003mfl.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(1300-1302)CGA>CAA		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						78.0	81.0	80.0					5																	176520456		2203	4299	6502	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520456G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1301G>A	5.37:g.176520456G>A	ENSP00000292408:p.Arg434Gln	TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Missense_Mutation_p.R434Q|FGFR4_uc011dfu.1_Missense_Mutation_p.E383K|FGFR4_uc003mfo.2_Missense_Mutation_p.R394Q	p.R434Q	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1468	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	434			Cytoplasmic (Potential).		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1301G>A	CCDS4410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.88|17.88	3.497893|3.497893	0.64186|0.64186	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000393648|ENST00000292408;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T|D;D;D;D	0.77229|0.89485	-1.08|-2.52;-2.52;-2.52;-2.52	4.44|4.44	3.57|3.57	0.40892|0.40892	.|.	.|0.055706	.|0.64402	.|D	.|0.000001	D|D	0.94205|0.94205	0.8140|0.8140	M|M	0.84326|0.84326	2.69|2.69	0.47737|0.47737	D|D	0.999505|0.999505	B|D;D	0.21688|0.89917	0.059|1.0;1.0	B|D;D	0.15870|0.83275	0.014|0.996;0.992	D|D	0.94369|0.94369	0.7594|0.7594	9|10	0.54805|0.54805	T|T	0.06|0.06	.|.	14.3035|14.3035	0.66371|0.66371	0.0:0.1498:0.8502:0.0|0.0:0.1498:0.8502:0.0	.|.	383|394;434	B4DVP5|P22455-2;P22455	.|.;FGFR4_HUMAN	K|Q	383|434;434;394;394;662	ENSP00000377259:E383K|ENSP00000292408:R434Q;ENSP00000424960:R434Q;ENSP00000292410:R394Q;ENSP00000377254:R394Q	ENSP00000377259:E383K|ENSP00000292408:R434Q	E|R	+|+	1|2	0|0	FGFR4|FGFR4	176453062|176453062	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.197000|0.197000	0.23852|0.23852	6.525000|6.525000	0.73795|0.73795	1.109000|1.109000	0.41680|0.41680	-0.233000|-0.233000	0.12211|0.12211	GAG|CGA		PASS	0.617	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			38	113	38	113	---	---	---	---
RUFY1	80230	broad.mit.edu	37	5	179016623	179016623	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:179016623G>A	ENST00000319449.4	+	9	1115	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	RUFY1_ENST00000393438.2_Missense_Mutation_p.R260Q|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.R260Q	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	368					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.R260Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAATTAATTCGAGAAAGAAGT	0.388										HNSCC(44;0.11)																												uc003mka.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)	5						c.(1102-1104)CGA>CAA		RUN and FYVE domain-containing 1 isoform a							102.0	100.0	101.0					5																	179016623		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179016623G>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1103G>A	5.37:g.179016623G>A	ENSP00000325594:p.Arg368Gln	HNSCC(44;0.11)				RUFY1_uc003mkb.1_Missense_Mutation_p.R260Q|RUFY1_uc003mkc.1_Missense_Mutation_p.R260Q|RUFY1_uc003mkd.1_5'Flank	p.R368Q	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1103	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	368			Potential.		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.1103G>A	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.53|18.53	3.643112|3.643112	0.67244|0.67244	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000508609|ENST00000319449;ENST00000437570;ENST00000393438	.|T;T;T	.|0.50548	.|0.74;0.8;0.8	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.055941	.|0.64402	.|D	.|0.000001	T|T	0.36690|0.36690	0.0976|0.0976	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|P	.|0.34462	.|0.454	.|B	.|0.23150	.|0.044	T|T	0.18429|0.18429	-1.0337|-1.0337	5|10	.|0.12766	.|T	.|0.61	-12.448|-12.448	14.2506|14.2506	0.66016|0.66016	0.0:0.0:0.851:0.149|0.0:0.0:0.851:0.149	.|.	.|368	.|Q96T51	.|RUFY1_HUMAN	K|Q	157|368;260;260	.|ENSP00000325594:R368Q;ENSP00000390025:R260Q;ENSP00000377087:R260Q	.|ENSP00000325594:R368Q	E|R	+|+	1|2	0|0	RUFY1|RUFY1	178949229|178949229	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.988000|0.988000	0.76386|0.76386	6.317000|6.317000	0.72862|0.72862	2.581000|2.581000	0.87130|0.87130	0.549000|0.549000	0.68633|0.68633	GAG|CGA		PASS	0.388	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		16	86	16	86	---	---	---	---
MAML1	9794	broad.mit.edu	37	5	179201470	179201470	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr5:179201470C>G	ENST00000292599.3	+	5	2906	c.2643C>G	c.(2641-2643)ttC>ttG	p.F881L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.F881L(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCGCAATTCTCCCAGGCAG	0.627																																						uc003mkm.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)	6						c.(2641-2643)TTC>TTG		mastermind-like 1							33.0	36.0	35.0					5																	179201470		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201470C>G	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2643C>G	5.37:g.179201470C>G	ENSP00000292599:p.Phe881Leu					MAML1_uc003mkn.1_Intron	p.F881L	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	2906	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	881						Missense_Mutation	SNP	ENST00000292599.3	37	c.2643C>G	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783126	0.31593	.	.	ENSG00000161021	ENST00000292599	T	0.30182	1.54	5.07	3.27	0.37495	.	0.068431	0.64402	N	0.000009	T	0.31009	0.0783	M	0.74647	2.275	0.50813	D	0.999899	B	0.24618	0.107	B	0.21360	0.034	T	0.21827	-1.0234	10	0.72032	D	0.01	-12.4119	7.1477	0.25593	0.0:0.6151:0.0:0.3849	.	881	Q92585	MAML1_HUMAN	L	881	ENSP00000292599:F881L	ENSP00000292599:F881L	F	+	3	2	MAML1	179134076	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	2.909000	0.48758	1.134000	0.42165	0.561000	0.74099	TTC		PASS	0.627	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		14	42	14	42	---	---	---	---
FOXF2	2295	broad.mit.edu	37	6	1390815	1390815	+	Silent	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:1390815G>T	ENST00000259806.1	+	1	747	c.633G>T	c.(631-633)gtG>gtT	p.V211V		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	211					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)	p.V211V(1)		large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		ACCGCGTGGTGAGCGGCTTGG	0.736																																						uc003mtm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(631-633)GTG>GTT		forkhead box F2							17.0	20.0	19.0					6																	1390815		2191	4284	6475	SO:0001819	synonymous_variant	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1390815G>T	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.633G>T	6.37:g.1390815G>T						FOXF2_uc003mtn.2_Silent_p.V211V	p.V211V	NM_001452	NP_001443	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	747	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	211					Q5TGJ1|Q9UQ85	Silent	SNP	ENST00000259806.1	37	c.633G>T	CCDS4472.1																																																																																				PASS	0.736	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			5	53	5	53	---	---	---	---
SERPINB9	5272	broad.mit.edu	37	6	2890510	2890510	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:2890510C>G	ENST00000380698.4	-	7	1107	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	340		Reactive bond. {ECO:0000250}.			cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E340Q(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				ATGCAGCACTCTGCAACTACA	0.532																																						uc003mug.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)GAG>CAG		serpin peptidase inhibitor, clade B, member 9							99.0	86.0	90.0					6																	2890510		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2890510C>G	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.1018G>C	6.37:g.2890510C>G	ENSP00000370074:p.Glu340Gln					uc003mue.2_Intron|SERPINB9_uc003muf.2_Missense_Mutation_p.E143Q	p.E340Q	NM_004155	NP_004146	P50453	SPB9_HUMAN			7	1139	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	340				Reactive bond (By similarity).	B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.1018G>C	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	C	7.320	0.616761	0.14129	.	.	ENSG00000170542	ENST00000380698	D	0.84223	-1.82	4.27	-0.00311	0.14027	Serpin domain (3);	0.756079	0.13469	N	0.385524	T	0.56572	0.1994	N	0.26092	0.79	0.09310	N	1	B	0.18741	0.03	B	0.22152	0.038	T	0.52177	-0.8610	10	0.46703	T	0.11	.	6.144	0.20275	0.0:0.2694:0.4548:0.2759	.	340	P50453	SPB9_HUMAN	Q	340	ENSP00000370074:E340Q	ENSP00000370074:E340Q	E	-	1	0	SERPINB9	2835509	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.543000	0.06084	0.141000	0.18875	-0.176000	0.13171	GAG		PASS	0.532	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			24	102	24	102	---	---	---	---
FARS2	10667	broad.mit.edu	37	6	5431349	5431349	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:5431349G>A	ENST00000324331.6	+	4	1184	c.848G>A	c.(847-849)gGa>gAa	p.G283E	FARS2_ENST00000274680.4_Missense_Mutation_p.G283E			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	283					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.G283E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AACTTTCATGGAGAATGGCTG	0.418																																						uc010jnv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)GGA>GAA		phenylalanyl-tRNA synthetase 2 precursor	L-Phenylalanine(DB00120)						187.0	173.0	177.0					6																	5431349		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5431349G>A	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.848G>A	6.37:g.5431349G>A	ENSP00000316335:p.Gly283Glu					FARS2_uc003mwr.2_Missense_Mutation_p.G283E|FARS2_uc003mws.1_Missense_Mutation_p.G283E	p.G283E	NM_006567	NP_006558	O95363	SYFM_HUMAN			4	1184	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	283					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.848G>A	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574976	0.65878	.	.	ENSG00000145982	ENST00000274680;ENST00000397563;ENST00000324331;ENST00000445533	T;T;T	0.67523	-0.27;-0.27;-0.27	5.5	5.5	0.81552	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.126318	0.52532	D	0.000062	T	0.60945	0.2308	L	0.60957	1.885	0.54753	D	0.999986	P	0.37688	0.605	B	0.42282	0.382	T	0.63563	-0.6609	10	0.44086	T	0.13	-1.6444	18.4297	0.90620	0.0:0.0:1.0:0.0	.	283	O95363	SYFM_HUMAN	E	283;133;283;79	ENSP00000274680:G283E;ENSP00000316335:G283E;ENSP00000392525:G79E	ENSP00000274680:G283E	G	+	2	0	FARS2	5376348	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	9.535000	0.98064	2.587000	0.87381	0.585000	0.79938	GGA		PASS	0.418	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		53	257	53	257	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7584134	7584134	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:7584134C>G	ENST00000379802.3	+	24	6980	c.6639C>G	c.(6637-6639)atC>atG	p.I2213M	DSP_ENST00000418664.2_Missense_Mutation_p.I1614M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2213	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.I2213M(2)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCAAGGAATCAGACAACCTG	0.468																																						uc003mxp.1																			2	Substitution - Missense(2)		lung(1)|breast(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(6637-6639)ATC>ATG		desmoplakin isoform I							133.0	120.0	125.0					6																	7584134		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584134C>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6639C>G	6.37:g.7584134C>G	ENSP00000369129:p.Ile2213Met					DSP_uc003mxq.1_Missense_Mutation_p.I1614M	p.I2213M	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6918	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2213			Plectin 6.|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6639C>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056611	0.36277	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.69561	-0.41;-0.41	5.62	3.81	0.43845	.	0.000000	0.64402	D	0.000003	T	0.66376	0.2783	M	0.65975	2.015	0.22710	N	0.99883	D;D	0.71674	0.998;0.992	D;P	0.66716	0.946;0.789	T	0.58142	-0.7688	10	0.49607	T	0.09	.	8.5556	0.33478	0.0:0.717:0.0:0.283	.	1661;2213	Q4LE79;P15924	.;DESP_HUMAN	M	2213;1614	ENSP00000369129:I2213M;ENSP00000396591:I1614M	ENSP00000369129:I2213M	I	+	3	3	DSP	7529133	0.984000	0.35163	1.000000	0.80357	0.988000	0.76386	0.379000	0.20585	1.511000	0.48818	0.655000	0.94253	ATC		PASS	0.468	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		13	127	13	127	---	---	---	---
GCM2	9247	broad.mit.edu	37	6	10877569	10877569	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:10877569G>C	ENST00000379491.4	-	2	294	c.147C>G	c.(145-147)atC>atG	p.I49M	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	49					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.I49M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CGCTGCTGTAGATGAAGCGCA	0.567																																						uc003mzn.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(145-147)ATC>ATG		glial cells missing homolog 2							95.0	77.0	83.0					6																	10877569		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10877569G>C	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.147C>G	6.37:g.10877569G>C	ENSP00000368805:p.Ile49Met					SYCP2L_uc011dim.1_Intron	p.I49M	NM_004752	NP_004743	O75603	GCM2_HUMAN			2	219	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	49			GCM.		D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.147C>G	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161176	0.57368	.	.	ENSG00000124827	ENST00000379491	T	0.75821	-0.97	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	T	0.81579	-0.0868	10	0.72032	D	0.01	-17.4849	9.0111	0.36142	0.0734:0.0:0.7785:0.1481	.	49	O75603	GCM2_HUMAN	M	49	ENSP00000368805:I49M	ENSP00000368805:I49M	I	-	3	3	GCM2	10985555	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	1.939000	0.40213	2.679000	0.91253	0.650000	0.86243	ATC		PASS	0.567	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			9	98	9	98	---	---	---	---
SOX4	6659	broad.mit.edu	37	6	21595968	21595968	+	Missense_Mutation	SNP	C	C	G	rs145209759	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:21595968C>G	ENST00000244745.1	+	1	1997	c.1203C>G	c.(1201-1203)ttC>ttG	p.F401L	SOX4_ENST00000543472.1_Missense_Mutation_p.F401L	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	401					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F401L(1)		kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			ACGACGAGTTCGAAGACGACC	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		10113	0.0		0.002	False		,,,				2504	0.0					uc003ndi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1201-1203)TTC>TTG		SRY (sex determining region Y)-box 4		C	LEU/PHE	1,4403		0,1,2201	24.0	20.0	21.0		1203	1.2	1.0	6	dbSNP_134	21	6,8588		0,6,4291	yes	missense	SOX4	NM_003107.2	22	0,7,6492	GG,GC,CC		0.0698,0.0227,0.0539	benign	401/475	21595968	7,12991	2202	4297	6499	SO:0001583	missense	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595968C>G	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.1203C>G	6.37:g.21595968C>G	ENSP00000244745:p.Phe401Leu						p.F401L	NM_003107	NP_003098	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1997	+	Ovarian(93;0.163)		401						Missense_Mutation	SNP	ENST00000244745.1	37	c.1203C>G	CCDS4547.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.300	1.052858	0.19907	2.27E-4	6.98E-4	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.97752	-4.52;-4.52	4.31	1.25	0.21368	.	1.013640	0.07919	U	0.975656	D	0.87939	0.6304	L	0.32530	0.975	0.39929	D	0.974269	B	0.13145	0.007	B	0.11329	0.006	T	0.78290	-0.2261	10	0.06891	T	0.86	.	5.1187	0.14849	0.0:0.4253:0.3585:0.2163	.	401	Q06945	SOX4_HUMAN	L	401	ENSP00000244745:F401L;ENSP00000438412:F401L	ENSP00000244745:F401L	F	+	3	2	SOX4	21703947	0.825000	0.29262	0.999000	0.59377	0.987000	0.75469	-0.076000	0.11412	0.923000	0.37045	0.585000	0.79938	TTC		PASS	0.657	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		22	10	22	10	---	---	---	---
FAM65B	9750	broad.mit.edu	37	6	24848350	24848350	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:24848350G>C	ENST00000259698.4	-	12	1155	c.980C>G	c.(979-981)tCa>tGa	p.S327*	FAM65B_ENST00000538035.1_Nonsense_Mutation_p.S356*|FAM65B_ENST00000540914.1_Nonsense_Mutation_p.S327*|FAM65B_ENST00000510784.2_Nonsense_Mutation_p.S361*|FAM65B_ENST00000378023.4_Nonsense_Mutation_p.S327*	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	327					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.S327*(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CCCAGCGCCTGAGGATGCGGT	0.527																																						uc003neo.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(979-981)TCA>TGA		hypothetical protein LOC9750 isoform 1							74.0	73.0	74.0					6																	24848350		1987	4175	6162	SO:0001587	stop_gained	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24848350G>C	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.980C>G	6.37:g.24848350G>C	ENSP00000259698:p.Ser327*					FAM65B_uc011djs.1_Nonsense_Mutation_p.S356*|FAM65B_uc011dju.1_Nonsense_Mutation_p.S361*|FAM65B_uc003nep.2_Nonsense_Mutation_p.S327*|FAM65B_uc011djt.1_Nonsense_Mutation_p.S327*	p.S327*	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			12	1156	-			327					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Nonsense_Mutation	SNP	ENST00000259698.4	37	c.980C>G	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	G	37	6.388603	0.97529	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	.	.	.	5.48	5.48	0.80851	.	0.226080	0.45606	D	0.000349	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.2333	19.3611	0.94438	0.0:0.0:1.0:0.0	.	.	.	.	X	327;356;327;327;361	.	ENSP00000259698:S327X	S	-	2	0	FAM65B	24956329	1.000000	0.71417	0.070000	0.20053	0.728000	0.41692	9.471000	0.97696	2.551000	0.86045	0.563000	0.77884	TCA		PASS	0.527	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			5	42	5	42	---	---	---	---
HIST1H1E	3008	broad.mit.edu	37	6	26157146	26157146	+	Silent	SNP	G	G	T	rs541188687		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:26157146G>T	ENST00000304218.3	+	1	588	c.528G>T	c.(526-528)gcG>gcT	p.A176A	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	176					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A176A(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CGAAAAAGGCGAAAGCAGCCA	0.587																																						uc003ngq.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(526-528)GCG>GCT		histone cluster 1, H1e							19.0	22.0	21.0					6																	26157146		2193	4292	6485	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26157146G>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.528G>T	6.37:g.26157146G>T						HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.A176A	NM_005321	NP_005312	P10412	H14_HUMAN			1	588	+			176					Q4VB25	Silent	SNP	ENST00000304218.3	37	c.528G>T	CCDS4586.1																																																																																				PASS	0.587	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		5	26	5	26	---	---	---	---
HIST1H2BD	3017	broad.mit.edu	37	6	26158469	26158469	+	Silent	SNP	G	G	A	rs145666937	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:26158469G>A	ENST00000289316.2	+	1	96	c.72G>A	c.(70-72)aaG>aaA	p.K24K	HIST1H2BD_ENST00000377777.4_Silent_p.K24K	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	24					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K24K(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						AGGCTCAGAAGAAGGACGGGA	0.537																																						uc003ngr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(70-72)AAG>AAA		histone cluster 1, H2bd		G	,	1,4405		0,1,2202	140.0	135.0	137.0		72,72	2.4	1.0	6	dbSNP_134	137	9,8591		0,9,4291	no	coding-synonymous,coding-synonymous	HIST1H2BD	NM_021063.3,NM_138720.2	,	0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769	,	24/127,24/127	26158469	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158469G>A	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.72G>A	6.37:g.26158469G>A						HIST1H2BD_uc003ngs.2_Silent_p.K24K	p.K24K	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	121	+			24						Silent	SNP	ENST00000289316.2	37	c.72G>A	CCDS4587.1																																																																																				PASS	0.537	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		42	229	42	229	---	---	---	---
HIST1H3D	8351	broad.mit.edu	37	6	26197163	26197163	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:26197163C>G	ENST00000356476.2	-	1	315	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Missense_Mutation_p.E106Q			P68431	H31_HUMAN	histone cluster 1, H3d	106					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E106Q(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				TTGGTGTCCTCAAACAGCCCC	0.592																																					GBM(108;3816 4467)	uc003ngv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)GAG>CAG		histone cluster 1, H3d							100.0	90.0	93.0					6																	26197163		2203	4300	6503	SO:0001583	missense	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197163C>G	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.316G>C	6.37:g.26197163C>G	ENSP00000366999:p.Glu106Gln					HIST1H2BF_uc003ngx.2_5'Flank	p.E106Q	NM_003530	NP_003521	P68431	H31_HUMAN			2	713	-		all_hematologic(11;0.196)	106					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	c.316G>C	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.009425	0.75046	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.71698	-0.59;-0.59	4.13	4.13	0.48395	.	.	.	.	.	T	0.76941	0.4058	.	.	.	0.40838	D	0.983644	.	.	.	.	.	.	T	0.81566	-0.0874	6	0.87932	D	0	.	15.7469	0.77953	0.0:1.0:0.0:0.0	.	.	.	.	Q	106	ENSP00000366999:E106Q;ENSP00000367062:E106Q	ENSP00000366999:E106Q	E	-	1	0	HIST1H3D	26305142	1.000000	0.71417	0.959000	0.39883	0.979000	0.70002	4.630000	0.61297	2.012000	0.59069	0.655000	0.94253	GAG		PASS	0.592	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		51	62	51	62	---	---	---	---
HIST1H3D	8351	broad.mit.edu	37	6	26197472	26197472	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:26197472G>C	ENST00000356476.2	-	1	6	c.7C>G	c.(7-9)Cgt>Ggt	p.R3G	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Missense_Mutation_p.R3G			P68431	H31_HUMAN	histone cluster 1, H3d	3					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R3G(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				TGCTTGGTACGAGCCATTGCG	0.542																																					GBM(108;3816 4467)	uc003ngv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)CGT>GGT		histone cluster 1, H3d							47.0	53.0	51.0					6																	26197472		2202	4297	6499	SO:0001583	missense	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197472G>C	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.7C>G	6.37:g.26197472G>C	ENSP00000366999:p.Arg3Gly					HIST1H2BF_uc003ngx.2_5'Flank	p.R3G	NM_003530	NP_003521	P68431	H31_HUMAN			2	404	-		all_hematologic(11;0.196)	3					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	c.7C>G	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	9.213	1.031303	0.19590	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.46451	0.87;0.87	4.14	2.3	0.28687	.	.	.	.	.	T	0.25717	0.0626	.	.	.	0.26956	N	0.965911	.	.	.	.	.	.	T	0.15521	-1.0434	6	0.66056	D	0.02	.	8.4066	0.32619	0.088:0.1558:0.7562:0.0	.	.	.	.	G	3	ENSP00000366999:R3G;ENSP00000367062:R3G	ENSP00000366999:R3G	R	-	1	0	HIST1H3D	26305451	0.807000	0.29009	0.635000	0.29338	0.124000	0.20399	1.323000	0.33701	0.310000	0.22990	0.655000	0.94253	CGT		PASS	0.542	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		11	84	11	84	---	---	---	---
BTN2A1	11120	broad.mit.edu	37	6	26465625	26465625	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:26465625C>G	ENST00000312541.5	+	5	1173	c.925C>G	c.(925-927)Caa>Gaa	p.Q309E	BTN2A1_ENST00000469185.1_Missense_Mutation_p.Q309E|BTN2A1_ENST00000429381.1_Missense_Mutation_p.Q309E|BTN2A1_ENST00000541522.1_Missense_Mutation_p.Q248E	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	309					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.Q309E(1)|p.Q295E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GGAAGAACTTCAAGTAAAAGG	0.463																																						uc003nib.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(925-927)CAA>GAA		butyrophilin, subfamily 2, member A1 isoform 1							65.0	59.0	61.0					6																	26465625		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26465625C>G	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.925C>G	6.37:g.26465625C>G	ENSP00000312158:p.Gln309Glu					BTN2A1_uc003nic.1_Missense_Mutation_p.Q309E|BTN2A1_uc003nid.1_Missense_Mutation_p.Q157E|BTN2A1_uc011dko.1_Missense_Mutation_p.Q248E|BTN2A1_uc010jqk.1_Missense_Mutation_p.Q69E	p.Q309E	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN			5	1137	+			309			Cytoplasmic (Potential).		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.925C>G	CCDS4613.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.807|8.807	0.934397|0.934397	0.18206|0.18206	.|.	.|.	ENSG00000112763|ENSG00000112763	ENST00000480218|ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	.|T;T;T;T	.|0.75704	.|-0.4;1.19;-0.96;-0.95	3.39|3.39	1.35|1.35	0.21983|0.21983	.|.	.|.	.|.	.|.	.|.	T|T	0.30510|0.30510	0.0767|0.0767	N|N	0.25890|0.25890	0.77|0.77	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.22800	.|0.001;0.075;0.005	.|B;B;B	.|0.12156	.|0.001;0.007;0.007	T|T	0.22661|0.22661	-1.0210|-1.0210	5|9	.|0.10111	.|T	.|0.7	.|.	5.9427|5.9427	0.19201|0.19201	0.2191:0.5677:0.2133:0.0|0.2191:0.5677:0.2133:0.0	.|.	.|248;309;309	.|B4DLP9;Q96AV7;Q7KYR7	.|.;.;BT2A1_HUMAN	L|E	57|309;248;309;295;309	.|ENSP00000312158:Q309E;ENSP00000443909:Q248E;ENSP00000416945:Q309E;ENSP00000419043:Q309E	.|ENSP00000265424:Q295E	F|Q	+|+	3|1	2|0	BTN2A1|BTN2A1	26573604|26573604	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.301000|0.301000	0.27625|0.27625	0.486000|0.486000	0.22340|0.22340	0.148000|0.148000	0.19059|0.19059	0.455000|0.455000	0.32223|0.32223	TTC|CAA		PASS	0.463	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		12	131	12	131	---	---	---	---
PRSS16	10279	broad.mit.edu	37	6	27216714	27216714	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:27216714C>T	ENST00000230582.3	+	3	341	c.326C>T	c.(325-327)tCa>tTa	p.S109L	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	109					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.S109L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGCCTGGCTCAGTGATGAGA	0.567																																					NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(325-327)TCA>TTA		protease, serine, 16 precursor							79.0	67.0	71.0					6																	27216714		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27216714C>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.326C>T	6.37:g.27216714C>T	ENSP00000230582:p.Ser109Leu					PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Intron|PRSS16_uc010jqq.1_5'UTR|PRSS16_uc010jqr.1_5'UTR|PRSS16_uc003njc.1_RNA|PRSS16_uc003njd.2_5'Flank	p.S109L	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			3	338	+			109					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.326C>T	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	c	18.37	3.609494	0.66558	.	.	ENSG00000112812	ENST00000230582;ENST00000343467;ENST00000348953	T	0.14516	2.5	4.14	4.14	0.48551	.	0.508981	0.20729	N	0.086742	T	0.21427	0.0516	M	0.81497	2.545	0.38608	D	0.950836	D	0.76494	0.999	D	0.68765	0.96	T	0.13629	-1.0502	10	0.11485	T	0.65	-7.2407	12.0976	0.53763	0.0:1.0:0.0:0.0	.	109	Q9NQE7	TSSP_HUMAN	L	109	ENSP00000230582:S109L	ENSP00000230582:S109L	S	+	2	0	PRSS16	27324693	0.998000	0.40836	0.991000	0.47740	0.872000	0.50106	2.719000	0.47244	2.309000	0.77851	0.557000	0.71058	TCA		PASS	0.567	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			37	127	37	127	---	---	---	---
ZNF184	7738	broad.mit.edu	37	6	27420473	27420473	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:27420473C>T	ENST00000211936.6	-	6	1149	c.865G>A	c.(865-867)Gag>Aag	p.E289K	ZNF184_ENST00000377419.1_Missense_Mutation_p.E289K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	289					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.E289K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GATGGACCCTCAATGAAGCCT	0.378																																						uc003njj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(865-867)GAG>AAG		zinc finger protein 184							75.0	77.0	76.0					6																	27420473		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420473C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.865G>A	6.37:g.27420473C>T	ENSP00000211936:p.Glu289Lys					ZNF184_uc010jqv.2_Missense_Mutation_p.E289K|ZNF184_uc003nji.2_Missense_Mutation_p.E289K	p.E289K	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	1676	-			289			C2H2-type 3.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.865G>A	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973210	0.34848	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.14640	2.49;2.49	4.99	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000193	T	0.02047	0.0064	N	0.01771	-0.73	0.32798	N	0.500208	B	0.26672	0.156	B	0.25506	0.061	T	0.39623	-0.9605	10	0.36615	T	0.2	.	12.1313	0.53944	0.0:0.7018:0.2982:0.0	.	289	Q99676	ZN184_HUMAN	K	289	ENSP00000211936:E289K;ENSP00000366636:E289K	ENSP00000211936:E289K	E	-	1	0	ZNF184	27528452	0.000000	0.05858	1.000000	0.80357	0.952000	0.60782	-3.032000	0.00637	2.591000	0.87537	0.455000	0.32223	GAG		PASS	0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		40	175	40	175	---	---	---	---
OR2B3	442184	broad.mit.edu	37	6	29054830	29054830	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:29054830G>C	ENST00000377173.2	-	1	260	c.196C>G	c.(196-198)Ctc>Gtc	p.L66V		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L66V(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AAGATGGAGAGATTAGTGAGA	0.403																																						uc003nlx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(196-198)CTC>GTC		olfactory receptor, family 2, subfamily B,							148.0	142.0	144.0					6																	29054830		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054830G>C		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.196C>G	6.37:g.29054830G>C	ENSP00000366378:p.Leu66Val						p.L66V	NM_001005226	NP_001005226					1	261	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.196C>G	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852471	0.51270	.	.	ENSG00000204703	ENST00000377173	T	0.02812	4.15	3.9	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35525	U	0.003159	T	0.08133	0.0203	H	0.98295	4.195	0.26087	N	0.981014	D	0.61080	0.989	P	0.54629	0.757	T	0.24368	-1.0162	10	0.87932	D	0	.	4.3882	0.11327	0.1982:0.0:0.6229:0.1789	.	66	O76000	OR2B3_HUMAN	V	66	ENSP00000366378:L66V	ENSP00000366378:L66V	L	-	1	0	OR2B3	29162809	0.000000	0.05858	0.999000	0.59377	0.997000	0.91878	-0.559000	0.05971	0.602000	0.29896	0.579000	0.79373	CTC		PASS	0.403	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			22	196	22	196	---	---	---	---
OR14J1	442191	broad.mit.edu	37	6	29274746	29274746	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:29274746C>G	ENST00000377160.2	+	1	344	c.280C>G	c.(280-282)Cag>Gag	p.Q94E		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q94E(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTCTCTTGTTCAGTGCATTCT	0.458																																						uc011dln.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(280-282)CAG>GAG		olfactory receptor, family 5, subfamily U member							214.0	243.0	232.0					6																	29274746		1511	2709	4220	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274746C>G		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.280C>G	6.37:g.29274746C>G	ENSP00000366365:p.Gln94Glu						p.Q94E	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	280	+			94			Extracellular (Potential).		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.280C>G	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298005	0.40694	.	.	ENSG00000204695	ENST00000377160	T	0.02916	4.11	4.86	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.362986	0.19966	N	0.102083	T	0.00496	0.0016	N	0.02129	-0.67	0.09310	N	1	B	0.13594	0.008	B	0.15052	0.012	T	0.49560	-0.8927	10	0.52906	T	0.07	.	10.8544	0.46789	0.122:0.2987:0.5793:0.0	.	94	Q9UGF5	O14J1_HUMAN	E	94	ENSP00000366365:Q94E	ENSP00000366365:Q94E	Q	+	1	0	OR14J1	29382725	0.000000	0.05858	0.016000	0.15963	0.851000	0.48451	0.711000	0.25764	0.675000	0.31264	0.650000	0.86243	CAG		PASS	0.458	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			6	438	6	438	---	---	---	---
OR14J1	442191	broad.mit.edu	37	6	29275385	29275385	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:29275385G>C	ENST00000377160.2	+	1	983	c.919G>C	c.(919-921)Gag>Cag	p.E307Q		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E307Q(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GTCAAAGGAAGAGCTTCCTCA	0.388																																						uc011dln.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(919-921)GAG>CAG		olfactory receptor, family 5, subfamily U member							73.0	79.0	77.0					6																	29275385		1509	2709	4218	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275385G>C		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.919G>C	6.37:g.29275385G>C	ENSP00000366365:p.Glu307Gln						p.E307Q	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	919	+			307			Cytoplasmic (Potential).		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.919G>C	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464181	0.26335	.	.	ENSG00000204695	ENST00000377160	T	0.04049	3.72	4.33	2.34	0.29019	.	0.448936	0.17038	N	0.189442	T	0.00580	0.0019	N	0.02539	-0.55	0.09310	N	1	P	0.40144	0.704	B	0.37650	0.255	T	0.37267	-0.9713	10	0.26408	T	0.33	.	2.6434	0.04977	0.1035:0.187:0.5161:0.1933	.	307	Q9UGF5	O14J1_HUMAN	Q	307	ENSP00000366365:E307Q	ENSP00000366365:E307Q	E	+	1	0	OR14J1	29383364	0.000000	0.05858	0.014000	0.15608	0.012000	0.07955	0.051000	0.14141	1.114000	0.41781	0.557000	0.71058	GAG		PASS	0.388	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			53	138	53	138	---	---	---	---
TRIM40	135644	broad.mit.edu	37	6	30104956	30104956	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:30104956C>G	ENST00000396581.1	+	2	529	c.143C>G	c.(142-144)tCt>tGt	p.S48C	TRIM40_ENST00000489892.1_3'UTR|TRIM40_ENST00000307859.4_Missense_Mutation_p.S48C|TRIM40_ENST00000376724.2_Missense_Mutation_p.S48C			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	48					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)	p.S48C(1)		ovary(1)	1						GCCTCAGCCTCTGGGGTCTTC	0.607																																						uc003npk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(142-144)TCT>TGT		tripartite motif-containing 40							80.0	65.0	70.0					6																	30104956		1511	2708	4219	SO:0001583	missense	135644					intracellular	zinc ion binding	g.chr6:30104956C>G	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.143C>G	6.37:g.30104956C>G	ENSP00000379826:p.Ser48Cys					TRIM40_uc003npl.1_RNA|TRIM40_uc003npm.2_Missense_Mutation_p.S48C	p.S48C	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN			2	529	+			48			RING-type.		Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	ENST00000396581.1	37	c.143C>G		.	.	.	.	.	.	.	.	.	.	C	9.635	1.137457	0.21123	.	.	ENSG00000204614	ENST00000396581;ENST00000376724;ENST00000307859	T;T;T	0.68903	-0.36;-0.36;-0.36	4.57	-2.01	0.07410	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.375720	0.05388	N	0.538451	T	0.50069	0.1594	L	0.38953	1.18	0.09310	N	1	D;D	0.69078	0.993;0.997	P;D	0.63113	0.815;0.911	T	0.40289	-0.9571	10	0.59425	D	0.04	.	0.8781	0.01228	0.1488:0.2631:0.2921:0.296	.	48;48	Q5SRJ6;Q6P9F5	.;TRI40_HUMAN	C	48	ENSP00000379826:S48C;ENSP00000365914:S48C;ENSP00000308310:S48C	ENSP00000308310:S48C	S	+	2	0	TRIM40	30212935	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.606000	0.05654	-0.067000	0.12976	-0.211000	0.12701	TCT		PASS	0.607	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			14	89	14	89	---	---	---	---
TRIM40	135644	broad.mit.edu	37	6	30105078	30105078	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:30105078C>T	ENST00000396581.1	+	2	651	c.265C>T	c.(265-267)Cta>Tta	p.L89L	TRIM40_ENST00000307859.4_Silent_p.L89L|TRIM40_ENST00000376724.2_Silent_p.L89L			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	89					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)	p.L89L(1)		ovary(1)	1						CAGACTTCTTCTATGTGTGGA	0.542																																						uc003npk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(265-267)CTA>TTA		tripartite motif-containing 40							190.0	157.0	169.0					6																	30105078		1511	2709	4220	SO:0001819	synonymous_variant	135644					intracellular	zinc ion binding	g.chr6:30105078C>T	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.265C>T	6.37:g.30105078C>T						TRIM40_uc003npl.1_RNA|TRIM40_uc003npm.2_Silent_p.L89L	p.L89L	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN			2	651	+			89			B box-type.		Q5SRJ6|Q5SS36|Q8TD96	Silent	SNP	ENST00000396581.1	37	c.265C>T																																																																																					PASS	0.542	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			34	221	34	221	---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30523492	30523492	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:30523492G>C	ENST00000376621.3	-	2	1049	c.79C>G	c.(79-81)Caa>Gaa	p.Q27E	PRR3_ENST00000376560.3_5'Flank|PRR3_ENST00000376557.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	27					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.Q27E(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGCCCATCTTGAAGCCCTGCG	0.652																																						uc003nqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(79-81)CAA>GAA		guanine nucleotide binding protein-like 1							37.0	39.0	39.0					6																	30523492		2203	4300	6503	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30523492G>C		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.79C>G	6.37:g.30523492G>C	ENSP00000365806:p.Gln27Glu					GNL1_uc011dmi.1_5'UTR|GNL1_uc011dmj.1_Missense_Mutation_p.Q25E|GNL1_uc011dmk.1_Intron|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank	p.Q27E	NM_005275	NP_005266	P36915	GNL1_HUMAN			2	1107	-			27					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.79C>G	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291290	0.59976	.	.	ENSG00000204590	ENST00000376621;ENST00000433809	T	0.40476	1.03	5.08	5.08	0.68730	.	1.123250	0.06585	N	0.750978	T	0.11707	0.0285	L	0.29908	0.895	0.29763	N	0.835385	P;B	0.37864	0.61;0.207	B;B	0.25884	0.064;0.064	T	0.05989	-1.0852	10	0.02654	T	1	-27.9548	15.7365	0.77849	0.0:0.0:1.0:0.0	.	25;27	B4DYK6;P36915	.;GNL1_HUMAN	E	27;25	ENSP00000365806:Q27E	ENSP00000365806:Q27E	Q	-	1	0	GNL1	30631471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.486000	0.45259	2.534000	0.85438	0.561000	0.74099	CAA		PASS	0.652	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			10	71	10	71	---	---	---	---
TCF19	6941	broad.mit.edu	37	6	31129585	31129585	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:31129585G>C	ENST00000376257.3	+	3	1354	c.600G>C	c.(598-600)aaG>aaC	p.K200N	TCF19_ENST00000376255.4_Missense_Mutation_p.K200N|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	200	Pro-rich.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K200N(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GTGGACCAAAGAGCCTGCCTG	0.622																																						uc003nss.2																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)AAG>AAC		transcription factor 19							30.0	37.0	35.0					6																	31129585		1239	2526	3765	SO:0001583	missense	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31129585G>C	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.600G>C	6.37:g.31129585G>C	ENSP00000365433:p.Lys200Asn					TCF19_uc003nst.2_Missense_Mutation_p.K200N	p.K200N	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN			3	1124	+			200			Pro-rich.		A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.600G>C	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	G	0.114	-1.134701	0.01742	.	.	ENSG00000137310	ENST00000376257;ENST00000376255;ENST00000542218	T;T;T	0.23552	1.93;1.93;1.9	5.11	1.28	0.21552	.	0.714631	0.14490	N	0.316422	T	0.04137	0.0115	N	0.22421	0.69	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.43015	-0.9417	10	0.19590	T	0.45	-30.6924	4.7346	0.12982	0.2677:0.1587:0.5737:0.0	.	200	Q9Y242	TCF19_HUMAN	N	200;200;120	ENSP00000365433:K200N;ENSP00000365431:K200N;ENSP00000439397:K120N	ENSP00000365431:K200N	K	+	3	2	TCF19	31237564	0.097000	0.21791	0.002000	0.10522	0.019000	0.09904	0.978000	0.29488	0.330000	0.23485	-0.152000	0.13540	AAG		PASS	0.622	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		4	36	4	36	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31593854	31593854	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:31593854G>T	ENST00000376033.2	+	9	1131	c.897G>T	c.(895-897)gaG>gaT	p.E299D	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.E299D|SNORA38_ENST00000363946.1_RNA	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	299	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E299D(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTTAGTAGAGCCTGTGGGTC	0.473																																						uc003nvb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(895-897)GAG>GAT		HLA-B associated transcript-2							64.0	70.0	68.0					6																	31593854		1509	2708	4217	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31593854G>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.897G>T	6.37:g.31593854G>T	ENSP00000365201:p.Glu299Asp					BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.E299D|BAT2_uc003nve.2_3'UTR	p.E299D	NM_080686	NP_542417	P48634	PRC2A_HUMAN			9	1146	+			299			1-3.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.897G>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743261	0.30865	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.02158	4.42;4.42	4.96	2.23	0.28157	.	0.000000	0.50627	D	0.000103	T	0.02970	0.0088	L	0.41632	1.29	0.41790	D	0.989866	D	0.69078	0.997	D	0.72625	0.978	T	0.49062	-0.8978	10	0.87932	D	0	-18.5186	9.745	0.40442	0.2324:0.0:0.7676:0.0	.	299	P48634	PRC2A_HUMAN	D	299	ENSP00000365175:E299D;ENSP00000365201:E299D	ENSP00000365175:E299D	E	+	3	2	PRRC2A	31701833	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.262000	0.43285	0.297000	0.22615	0.655000	0.94253	GAG		PASS	0.473	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		6	123	6	123	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31599685	31599685	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:31599685C>T	ENST00000376033.2	+	16	3469	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1079S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1079	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P1079S(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCTCCTGCTCCCCGAGGCCG	0.657																																						uc003nvb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(3235-3237)CCC>TCC		HLA-B associated transcript-2							24.0	23.0	24.0					6																	31599685		1508	2708	4216	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599685C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3235C>T	6.37:g.31599685C>T	ENSP00000365201:p.Pro1079Ser					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P1079S	p.P1079S	NM_080686	NP_542417	P48634	PRC2A_HUMAN			16	3484	+			1079			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.3235C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	9.001	0.980157	0.18812	.	.	ENSG00000204469	ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02177	4.41;4.41	4.82	3.04	0.35103	.	0.145954	0.32081	N	0.006603	T	0.00784	0.0026	L	0.31926	0.97	0.37658	D	0.922677	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	10	0.87932	D	0	-1.9932	5.1342	0.14926	0.0:0.5288:0.2847:0.1865	.	1079	P48634	PRC2A_HUMAN	S	1079;1079;304	ENSP00000365175:P1079S;ENSP00000365201:P1079S	ENSP00000365175:P1079S	P	+	1	0	PRRC2A	31707664	0.000000	0.05858	0.997000	0.53966	0.997000	0.91878	-0.046000	0.11983	0.652000	0.30806	0.655000	0.94253	CCC		PASS	0.657	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		6	35	6	35	---	---	---	---
NEU1	4758	broad.mit.edu	37	6	31829147	31829147	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:31829147C>T	ENST00000375631.4	-	3	562	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	145					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.D145N(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	GTCTCAACATCGCTCACTACT	0.512																																						uc003nxq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)GAT>AAT		neuraminidase precursor	Oseltamivir(DB00198)|Zanamivir(DB00558)						74.0	73.0	73.0					6																	31829147		1511	2709	4220	SO:0001583	missense	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31829147C>T	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.433G>A	6.37:g.31829147C>T	ENSP00000364782:p.Asp145Asn					NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_5'UTR|NEU1_uc003nxs.3_Missense_Mutation_p.D145N	p.D145N	NM_000434	NP_000425	Q99519	NEUR1_HUMAN			3	589	-			145						Missense_Mutation	SNP	ENST00000375631.4	37	c.433G>A	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469733	0.84533	.	.	ENSG00000204386	ENST00000375631	D	0.87887	-2.31	5.17	4.31	0.51392	Neuraminidase (2);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	H	0.96398	3.815	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95324	0.8423	10	0.87932	D	0	8.4116	11.4763	0.50300	0.0:0.9134:0.0:0.0866	.	145;145	E9PIF4;Q99519	.;NEUR1_HUMAN	N	145	ENSP00000364782:D145N	ENSP00000364782:D145N	D	-	1	0	NEU1	31937126	1.000000	0.71417	0.959000	0.39883	0.794000	0.44872	6.854000	0.75440	1.423000	0.47198	-0.136000	0.14681	GAT		PASS	0.512	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			8	128	8	128	---	---	---	---
C4B	721	broad.mit.edu	37	6	31996957	31996957	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:31996957C>G	ENST00000435363.2	+	28	3602	c.3518C>G	c.(3517-3519)tCa>tGa	p.S1173*	C4B_ENST00000425700.2_Nonsense_Mutation_p.S1173*	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1173					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)	p.S1173*(1)								Intravenous Immunoglobulin(DB00028)	GCCTCCATCTCAAAGGCAAGC	0.612																																						uc011dpd.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(3517-3519)TCA>TGA		complement component 4A preproprotein							100.0	84.0	89.0					6																	31996957		1558	3550	5108	SO:0001587	stop_gained	720				complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity	g.chr6:31996957C>G	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3518C>G	6.37:g.31996957C>G	ENSP00000415941:p.Ser1173*					C4A_uc011dpe.1_Nonsense_Mutation_p.S1173*	p.S1173*	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN			28	3569	+			1173					A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Nonsense_Mutation	SNP	ENST00000435363.2	37	c.3518C>G	CCDS47405.1	.	.	.	.	.	.	.	.	.	.	C	40	8.213763	0.98709	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	.	.	.	4.66	1.84	0.25277	.	0.987961	0.08247	N	0.975172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.0317	0.24970	0.0:0.7026:0.0:0.2974	.	.	.	.	X	1173	.	ENSP00000391933:S1173X	S	+	2	0	C4B	32104935	0.055000	0.20627	0.152000	0.22495	0.647000	0.38526	0.428000	0.21395	0.069000	0.16605	0.558000	0.71614	TCA		PASS	0.612	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		36	261	36	261	---	---	---	---
MAPK14	1432	broad.mit.edu	37	6	36041850	36041850	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:36041850G>A	ENST00000229794.4	+	6	860	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	MAPK14_ENST00000310795.4_Missense_Mutation_p.V158M|MAPK14_ENST00000468133.1_Missense_Mutation_p.V81M|MAPK14_ENST00000229795.3_Missense_Mutation_p.V158M	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)	p.V158M(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TAATCTAGCTGTGAATGAAGA	0.378																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	uc003olp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(472-474)GTG>ATG		mitogen-activated protein kinase 14 isoform 1							138.0	125.0	129.0					6																	36041850		2203	4300	6503	SO:0001583	missense	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36041850G>A	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.472G>A	6.37:g.36041850G>A	ENSP00000229794:p.Val158Met					MAPK14_uc011dth.1_Missense_Mutation_p.V158M|MAPK14_uc003olo.2_Missense_Mutation_p.V158M|MAPK14_uc003olq.2_Missense_Mutation_p.V158M|MAPK14_uc003olr.2_Missense_Mutation_p.V158M|MAPK14_uc011dti.1_Missense_Mutation_p.V81M	p.V158M	NM_001315	NP_001306	Q16539	MK14_HUMAN			6	953	+			158			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	37	c.472G>A	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717502	0.89205	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133;ENST00000310795;ENST00000472333	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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	T	0.78947	0.4364	M	0.67625	2.065	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	0.85130	0.994;0.997;0.996;0.99;0.996	T	0.80211	-0.1476	10	0.87932	D	0	-10.6867	19.6531	0.95825	0.0:0.0:1.0:0.0	.	158;158;158;158;158	B5TY32;Q16539-4;Q16539;Q16539-2;Q16539-3	.;.;MK14_HUMAN;.;.	M	158;158;81;158;81	ENSP00000229795:V158M;ENSP00000229794:V158M;ENSP00000419837:V81M;ENSP00000308669:V158M;ENSP00000419141:V81M	ENSP00000229794:V158M	V	+	1	0	MAPK14	36149828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.588000	0.98232	2.652000	0.90054	0.585000	0.79938	GTG		PASS	0.378	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		68	127	68	127	---	---	---	---
C6orf89	221477	broad.mit.edu	37	6	36870107	36870107	+	Silent	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:36870107C>A	ENST00000480824.2	+	4	594	c.300C>A	c.(298-300)ctC>ctA	p.L100L	C6orf89_ENST00000355190.3_Silent_p.L107L|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Silent_p.L100L			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	100					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L107L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GGCGCTCACTCATCCATCACA	0.493																																						uc003omx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(298-300)CTC>CTA		hypothetical protein LOC221477							150.0	134.0	140.0					6																	36870107		2203	4300	6503	SO:0001819	synonymous_variant	221477					integral to membrane		g.chr6:36870107C>A	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.300C>A	6.37:g.36870107C>A						C6orf89_uc003omv.2_5'UTR|C6orf89_uc003omw.2_Silent_p.L107L|C6orf89_uc011dtr.1_5'UTR	p.L100L	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN			4	584	+			100					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	ENST00000480824.2	37	c.300C>A																																																																																					PASS	0.493	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		11	259	11	259	---	---	---	---
PI16	221476	broad.mit.edu	37	6	36922627	36922627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:36922627G>T	ENST00000373674.3	+	1	419	c.91G>T	c.(91-93)Gag>Tag	p.E31*		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	31					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.E31*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTCACAGATGAGGAGAAACG	0.617																																						uc003ona.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(91-93)GAG>TAG		protease inhibitor 16 precursor							62.0	60.0	61.0					6																	36922627		2203	4300	6503	SO:0001587	stop_gained	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36922627G>T		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.91G>T	6.37:g.36922627G>T	ENSP00000362778:p.Glu31*					PI16_uc003omz.1_Nonsense_Mutation_p.E31*|PI16_uc003onb.2_Nonsense_Mutation_p.E31*	p.E31*	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			1	419	+			31			Extracellular (Potential).		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Nonsense_Mutation	SNP	ENST00000373674.3	37	c.91G>T	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	38	6.794485	0.97845	.	.	ENSG00000164530	ENST00000536757;ENST00000373674	.	.	.	5.51	5.51	0.81932	.	0.564809	0.17917	N	0.157640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.0021	0.92838	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	ENSP00000362778:E31X	E	+	1	0	PI16	37030605	0.970000	0.33590	0.069000	0.20011	0.434000	0.31775	2.370000	0.44240	2.593000	0.87608	0.491000	0.48974	GAG		PASS	0.617	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		6	93	6	93	---	---	---	---
RNF8	9025	broad.mit.edu	37	6	37344705	37344705	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:37344705G>C	ENST00000373479.4	+	6	1325	c.1132G>C	c.(1132-1134)Gag>Cag	p.E378Q	RNF8_ENST00000469731.1_Missense_Mutation_p.E378Q	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	378					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E378*(2)|p.E378Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTTGCAGGAAGAGAAGGAGAA	0.403																																						uc003onq.3																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		lung(4)	ovary(1)	1						c.(1132-1134)GAG>CAG		ring finger protein 8 isoform 1							128.0	117.0	121.0					6																	37344705		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37344705G>C	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1132G>C	6.37:g.37344705G>C	ENSP00000362578:p.Glu378Gln					RNF8_uc003onr.3_Missense_Mutation_p.E378Q|RNF8_uc011dtx.1_Missense_Mutation_p.E310Q	p.E378Q	NM_003958	NP_003949	O76064	RNF8_HUMAN			6	1325	+			378					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.1132G>C	CCDS4834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.718432|4.718432	0.89205|0.89205	.|.	.|.	ENSG00000112130|ENSG00000112130	ENST00000373479;ENST00000469731|ENST00000498460	D;T|.	0.83673|.	-1.75;-0.55|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66336|0.66336	0.2779|0.2779	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.64537|0.64537	-0.6384|-0.6384	10|5	0.40728|.	T|.	0.16|.	.|.	17.6753|17.6753	0.88229|0.88229	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	378|.	O76064|.	RNF8_HUMAN|.	Q|T	378|137	ENSP00000362578:E378Q;ENSP00000418879:E378Q|.	ENSP00000362578:E378Q|.	E|R	+|+	1|2	0|0	RNF8|RNF8	37452683|37452683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	9.869000|9.869000	0.99810|0.99810	2.509000|2.509000	0.84616|0.84616	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.403	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			13	107	13	107	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38850814	38850814	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:38850814G>T	ENST00000359357.3	+	52	7590	c.7336G>T	c.(7336-7338)Gca>Tca	p.A2446S	DNAH8_ENST00000441566.1_Missense_Mutation_p.A2410S|DNAH8_ENST00000449981.2_Missense_Mutation_p.A2663S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2446	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A2446S(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGACACCATTGCAAAACAACA	0.328																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(7336-7338)GCA>TCA		dynein, axonemal, heavy polypeptide 8							80.0	92.0	88.0					6																	38850814		2202	4292	6494	SO:0001583	missense	1769							g.chr6:38850814G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7336G>T	6.37:g.38850814G>T	ENSP00000352312:p.Ala2446Ser						p.A2446S	NM_001371	NP_001362					52	7936	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7336G>T		.	.	.	.	.	.	.	.	.	.	G	17.45	3.393094	0.62066	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.16897	2.31;2.31;2.31	5.87	5.87	0.94306	.	0.240894	0.42548	D	0.000685	T	0.17789	0.0427	L	0.44542	1.39	0.41919	D	0.990509	P	0.40578	0.722	P	0.50617	0.646	T	0.01935	-1.1244	10	0.19590	T	0.45	.	20.1991	0.98252	0.0:0.0:1.0:0.0	.	2446	Q96JB1	DYH8_HUMAN	S	2651;2651;2446;2410	ENSP00000333363:A2651S;ENSP00000352312:A2446S;ENSP00000402294:A2410S	ENSP00000333363:A2651S	A	+	1	0	DNAH8	38958792	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.845000	0.62853	2.775000	0.95449	0.650000	0.86243	GCA		PASS	0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		78	251	78	251	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38866091	38866091	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:38866091G>C	ENST00000359357.3	+	59	8601	c.8347G>C	c.(8347-8349)Gaa>Caa	p.E2783Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.E2747Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3000Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2783	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E2783Q(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGTTCAATGAAATCATTAG	0.328																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(8347-8349)GAA>CAA		dynein, axonemal, heavy polypeptide 8							114.0	120.0	118.0					6																	38866091		2203	4299	6502	SO:0001583	missense	1769							g.chr6:38866091G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8347G>C	6.37:g.38866091G>C	ENSP00000352312:p.Glu2783Gln						p.E2783Q	NM_001371	NP_001362					59	8947	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.8347G>C		.	.	.	.	.	.	.	.	.	.	G	28.5	4.924632	0.92319	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.41758	0.99;0.99;0.99	5.84	5.84	0.93424	.	0.050198	0.85682	D	0.000000	T	0.60779	0.2295	M	0.75884	2.315	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	T	0.58239	-0.7671	10	0.46703	T	0.11	.	20.1346	0.98019	0.0:0.0:1.0:0.0	.	2783	Q96JB1	DYH8_HUMAN	Q	2988;2988;2783;2747	ENSP00000333363:E2988Q;ENSP00000352312:E2783Q;ENSP00000402294:E2747Q	ENSP00000333363:E2988Q	E	+	1	0	DNAH8	38974069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.558000	0.90704	2.765000	0.95021	0.655000	0.94253	GAA		PASS	0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		44	324	44	324	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38883047	38883047	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:38883047A>T	ENST00000359357.3	+	66	9637	c.9383A>T	c.(9382-9384)gAc>gTc	p.D3128V	DNAH8_ENST00000441566.1_Missense_Mutation_p.D3092V|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3345V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3128	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D3128V(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGGTAAAGGACAAAGCCCAA	0.418																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(9382-9384)GAC>GTC		dynein, axonemal, heavy polypeptide 8							78.0	76.0	76.0					6																	38883047		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38883047A>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9383A>T	6.37:g.38883047A>T	ENSP00000352312:p.Asp3128Val					uc003oof.1_Intron	p.D3128V	NM_001371	NP_001362					66	9983	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.9383A>T		.	.	.	.	.	.	.	.	.	.	A	24.0	4.479583	0.84747	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73469	-0.75;-0.75;-0.75	5.37	5.37	0.77165	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85294	0.1069	10	0.41790	T	0.15	.	15.3687	0.74545	1.0:0.0:0.0:0.0	.	3128	Q96JB1	DYH8_HUMAN	V	3333;3333;3128;3092	ENSP00000333363:D3333V;ENSP00000352312:D3128V;ENSP00000402294:D3092V	ENSP00000333363:D3333V	D	+	2	0	DNAH8	38991025	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.204000	0.95041	2.045000	0.60652	0.477000	0.44152	GAC		PASS	0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		37	57	37	57	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40399929	40399929	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:40399929G>A	ENST00000338305.6	-	2	1466	c.924C>T	c.(922-924)ctC>ctT	p.L308L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	308	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L308L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTTGCACTTGAGTGTGGCCG	0.597																																						uc003oph.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(922-924)CTC>CTT		leucine rich repeat and fibronectin type III							41.0	43.0	42.0					6																	40399929		2203	4300	6503	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399929G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.924C>T	6.37:g.40399929G>A							p.L308L	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1389	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		308			Extracellular (Potential).|Ig-like.		A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.924C>T	CCDS34443.1																																																																																				PASS	0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		19	94	19	94	---	---	---	---
PGC	5225	broad.mit.edu	37	6	41704736	41704736	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:41704736C>A	ENST00000373025.3	-	9	1083	c.1021G>T	c.(1021-1023)Ggc>Tgc	p.G341C	TFEB_ENST00000358871.2_5'Flank|TFEB_ENST00000420312.1_5'Flank|RP11-298J23.5_ENST00000438967.1_RNA|TFEB_ENST00000403298.4_5'Flank|TFEB_ENST00000373033.1_5'Flank|TFEB_ENST00000230323.4_5'Flank	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	341					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.G341C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTGCAGTAGCCGTTGTTCTGC	0.587																																						uc003ora.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)GGC>TGC		progastricsin (pepsinogen C) precursor							56.0	54.0	55.0					6																	41704736		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41704736C>A		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.1021G>T	6.37:g.41704736C>A	ENSP00000362116:p.Gly341Cys					TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank	p.G341C	NM_002630	NP_002621	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		9	1070	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		341					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.1021G>T	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338715	0.41398	.	.	ENSG00000096088	ENST00000373025	T	0.39787	1.06	4.82	-1.51	0.08664	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	1.119980	0.06558	N	0.746298	T	0.65133	0.2662	H	0.99026	4.405	0.09310	N	1	D	0.71674	0.998	D	0.77004	0.989	T	0.48525	-0.9028	10	0.87932	D	0	.	6.7168	0.23308	0.1093:0.4873:0.0:0.4033	.	341	P20142	PEPC_HUMAN	C	341	ENSP00000362116:G341C	ENSP00000362116:G341C	G	-	1	0	PGC	41812714	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.848000	0.27710	-0.248000	0.09583	-0.291000	0.09656	GGC		PASS	0.587	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			3	35	3	35	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42237280	42237280	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:42237280C>G	ENST00000372922.4	-	5	611	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	TRERF1_ENST00000541110.1_Missense_Mutation_p.E17Q|TRERF1_ENST00000340840.2_Missense_Mutation_p.E17Q|TRERF1_ENST00000372917.4_Missense_Mutation_p.E17Q|TRERF1_ENST00000354325.2_Missense_Mutation_p.E17Q	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	17					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E17Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AAAAGGTTCTCACTACCATGG	0.527																																						uc003osd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(49-51)GAG>CAG		transcriptional regulating factor 1							61.0	64.0	63.0					6																	42237280		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42237280C>G	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.49G>C	6.37:g.42237280C>G	ENSP00000362013:p.Glu17Gln					TRERF1_uc011duq.1_Missense_Mutation_p.E17Q|TRERF1_uc003osb.2_5'UTR|TRERF1_uc003osc.2_5'UTR|TRERF1_uc003ose.2_Missense_Mutation_p.E17Q|TRERF1_uc010jxu.1_RNA	p.E17Q	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	612	-	Colorectal(47;0.196)		17					Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.49G>C	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499095	0.64298	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.19669	2.39;2.13;2.34;2.13;2.13	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000013	T	0.30417	0.0764	L	0.34521	1.04	0.49130	D	0.999753	D;D;D	0.89917	1.0;0.994;0.994	D;D;D	0.85130	0.997;0.977;0.977	T	0.08146	-1.0736	10	0.87932	D	0	-30.176	19.3769	0.94514	0.0:1.0:0.0:0.0	.	17;17;17	Q96PN7-4;Q05GC8;Q96PN7	.;.;TREF1_HUMAN	Q	17	ENSP00000439689:E17Q;ENSP00000362008:E17Q;ENSP00000362013:E17Q;ENSP00000339438:E17Q;ENSP00000346285:E17Q	ENSP00000339438:E17Q	E	-	1	0	TRERF1	42345258	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	5.634000	0.67833	2.664000	0.90586	0.561000	0.74099	GAG		PASS	0.527	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		14	140	14	140	---	---	---	---
SRF	6722	broad.mit.edu	37	6	43143550	43143550	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:43143550C>G	ENST00000265354.4	+	3	1245	c.887C>G	c.(886-888)tCc>tGc	p.S296C	SRF_ENST00000457278.2_Missense_Mutation_p.S92C	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	296					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)	p.S296C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCGGCCCCTCCTTTCCCATC	0.592																																						uc003oui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(886-888)TCC>TGC		serum response factor (c-fos serum response							183.0	159.0	167.0					6																	43143550		2203	4300	6503	SO:0001583	missense	6722				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr6:43143550C>G	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.887C>G	6.37:g.43143550C>G	ENSP00000265354:p.Ser296Cys					SRF_uc011dvf.1_Missense_Mutation_p.S92C	p.S296C	NM_003131	NP_003122	P11831	SRF_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		3	1362	+			296					Q5T648	Missense_Mutation	SNP	ENST00000265354.4	37	c.887C>G	CCDS4889.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413682	0.83449	.	.	ENSG00000112658	ENST00000265354;ENST00000457278	D	0.86769	-2.17	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.89312	0.6679	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	P	0.61328	0.887	D	0.90710	0.4627	10	0.87932	D	0	-8.4518	18.1638	0.89718	0.0:1.0:0.0:0.0	.	296	P11831	SRF_HUMAN	C	296;92	ENSP00000265354:S296C	ENSP00000265354:S296C	S	+	2	0	SRF	43251528	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.446000	0.80609	2.273000	0.75805	0.561000	0.74099	TCC		PASS	0.592	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		34	187	34	187	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43153205	43153205	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:43153205C>G	ENST00000252050.4	+	3	691	c.607C>G	c.(607-609)Cac>Gac	p.H203D	CUL9_ENST00000354495.3_Missense_Mutation_p.H203D|CUL9_ENST00000372647.2_Missense_Mutation_p.H203D	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	203					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.H203D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GAGTCGGGCTCACGTCCTTCT	0.498																																						uc003ouk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(607-609)CAC>GAC		p53-associated parkin-like cytoplasmic protein							124.0	111.0	116.0					6																	43153205		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43153205C>G	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.607C>G	6.37:g.43153205C>G	ENSP00000252050:p.His203Asp					CUL9_uc003ouj.1_Missense_Mutation_p.H203D|CUL9_uc003oul.2_Missense_Mutation_p.H203D|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	p.H203D	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			3	682	+			203					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.607C>G	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	9.977	1.227017	0.22542	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.41065	1.01;1.01;1.01	4.36	4.36	0.52297	Armadillo-like helical (1);	0.066428	0.64402	D	0.000009	T	0.41627	0.1167	L	0.56769	1.78	0.29119	N	0.880383	D;D;D	0.71674	0.985;0.985;0.998	P;P;P	0.62184	0.622;0.622;0.899	T	0.31752	-0.9932	10	0.72032	D	0.01	-20.8431	8.4152	0.32668	0.0:0.853:0.0:0.147	.	203;203;203	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	D	203	ENSP00000252050:H203D;ENSP00000346490:H203D;ENSP00000361730:H203D	ENSP00000252050:H203D	H	+	1	0	CUL9	43261183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.217000	0.51184	2.262000	0.75019	0.462000	0.41574	CAC		PASS	0.498	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		14	88	14	88	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43153813	43153813	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:43153813A>G	ENST00000252050.4	+	4	955	c.871A>G	c.(871-873)Aga>Gga	p.R291G	CUL9_ENST00000354495.3_Missense_Mutation_p.R291G|CUL9_ENST00000372647.2_Missense_Mutation_p.R291G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	291					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.R291G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATGTGCCACAAGAGAGAAAAG	0.592																																						uc003ouk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(871-873)AGA>GGA		p53-associated parkin-like cytoplasmic protein							60.0	63.0	62.0					6																	43153813		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43153813A>G	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.871A>G	6.37:g.43153813A>G	ENSP00000252050:p.Arg291Gly					CUL9_uc003ouj.1_Missense_Mutation_p.R291G|CUL9_uc003oul.2_Missense_Mutation_p.R291G|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	p.R291G	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			4	946	+			291					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.871A>G	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	A	2.598	-0.293567	0.05568	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.42900	0.96;0.96;0.96	5.26	3.01	0.34805	.	1.301770	0.04648	N	0.406587	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	B;B;B	0.15141	0.012;0.012;0.0	B;B;B	0.11329	0.006;0.006;0.0	T	0.24225	-1.0166	10	0.22109	T	0.4	-0.8432	4.4356	0.11549	0.3131:0.2133:0.4736:0.0	.	291;291;291	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	G	291	ENSP00000252050:R291G;ENSP00000346490:R291G;ENSP00000361730:R291G	ENSP00000252050:R291G	R	+	1	2	CUL9	43261791	0.123000	0.22298	0.001000	0.08648	0.284000	0.27059	2.005000	0.40864	0.926000	0.37118	0.460000	0.39030	AGA		PASS	0.592	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		32	131	32	131	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43400778	43400778	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:43400778C>A	ENST00000372530.4	+	3	1275	c.1060C>A	c.(1060-1062)Cag>Aag	p.Q354K	ABCC10_ENST00000244533.3_Missense_Mutation_p.Q311K|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	354	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Q311K(1)|p.Q311*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGTAACACTTCAGGCACGGGG	0.592																																						uc003ouy.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.Q311*(1)	ovary(1)|lung(1)	ovary(6)|central_nervous_system(1)	7						c.(1060-1062)CAG>AAG		ATP-binding cassette, sub-family C, member 10							58.0	57.0	57.0					6																	43400778		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400778C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1060C>A	6.37:g.43400778C>A	ENSP00000361608:p.Gln354Lys					ABCC10_uc003ouz.1_Missense_Mutation_p.Q311K|ABCC10_uc010jyo.1_5'Flank	p.Q354K	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1275	+	all_lung(25;0.00536)		354			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1060C>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	2.096	-0.407253	0.04832	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.87334	-2.24;-2.24	5.2	5.2	0.72013	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.710044	0.14003	N	0.347967	T	0.68183	0.2973	N	0.04508	-0.205	0.27199	N	0.960217	B;D	0.58620	0.02;0.983	B;P	0.60415	0.007;0.874	T	0.59705	-0.7404	10	0.06236	T	0.91	-17.3198	9.1942	0.37217	0.1551:0.5925:0.2524:0.0	.	311;354	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	K	354;311	ENSP00000361608:Q354K;ENSP00000244533:Q311K	ENSP00000244533:Q311K	Q	+	1	0	ABCC10	43508756	0.989000	0.36119	1.000000	0.80357	0.135000	0.20990	1.709000	0.37909	2.445000	0.82738	0.561000	0.74099	CAG		PASS	0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		8	191	8	191	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43417159	43417159	+	Splice_Site	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:43417159G>C	ENST00000372530.4	+	21	4418		c.e21-1		ABCC10_ENST00000244533.3_Splice_Site	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCATATTCCAGATCCTGTGTA	0.567																																						uc003ouy.1																			1	Unknown(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.e21-1		ATP-binding cassette, sub-family C, member 10							67.0	63.0	64.0					6																	43417159		2203	4300	6503	SO:0001630	splice_region_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43417159G>C	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4204-1G>C	6.37:g.43417159G>C						ABCC10_uc003ouz.1_Splice_Site_p.I1374_splice|ABCC10_uc010jyo.1_Splice_Site_p.I508_splice	p.I1402_splice	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		21	4419	+	all_lung(25;0.00536)							Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Splice_Site	SNP	ENST00000372530.4	37	c.4204_splice	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077663	0.76528	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394;ENST00000505344	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.512	0.87763	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC10	43525137	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	9.657000	0.98554	2.375000	0.81037	0.650000	0.86243	.		PASS	0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	Intron	9	140	9	140	---	---	---	---
TJAP1	93643	broad.mit.edu	37	6	43473279	43473279	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:43473279G>C	ENST00000372445.5	+	11	1736	c.1360G>C	c.(1360-1362)Gat>Cat	p.D454H	TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372444.2_Missense_Mutation_p.D444H|TJAP1_ENST00000436109.2_Missense_Mutation_p.D444H|TJAP1_ENST00000438588.2_Missense_Mutation_p.D454H|TJAP1_ENST00000372452.1_Missense_Mutation_p.D444H|TJAP1_ENST00000259751.1_Missense_Mutation_p.D444H|TJAP1_ENST00000372449.1_Missense_Mutation_p.D454H	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	454					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.D444H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CGCTGACAGAGATGAGGTGGT	0.607																																						uc003ovd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1360-1362)GAT>CAT		tight junction associated protein 1 isoform a							95.0	93.0	94.0					6																	43473279		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43473279G>C	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.1360G>C	6.37:g.43473279G>C	ENSP00000361522:p.Asp454His					TJAP1_uc003ovf.2_Missense_Mutation_p.D444H|TJAP1_uc003ove.2_Missense_Mutation_p.D444H|TJAP1_uc003ovc.2_Missense_Mutation_p.D444H|TJAP1_uc010jyp.2_Missense_Mutation_p.D413H|TJAP1_uc011dvh.1_Missense_Mutation_p.D444H|TJAP1_uc003ovg.2_Missense_Mutation_p.D320H|TJAP1_uc011dvi.1_Missense_Mutation_p.D454H|TJAP1_uc011dvj.1_Missense_Mutation_p.D254H|TJAP1_uc003ovi.2_Missense_Mutation_p.D320H	p.D454H	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1736	+	all_lung(25;0.00536)		454					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.1360G>C	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176575	0.38413	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.06	5.06	0.68205	.	0.688903	0.15211	N	0.274472	T	0.33990	0.0882	N	0.16478	0.41	0.39481	D	0.967896	D;D	0.53151	0.958;0.958	P;P	0.50378	0.639;0.639	T	0.26121	-1.0112	9	0.52906	T	0.07	-0.1234	11.8795	0.52566	0.0804:0.0:0.9196:0.0	.	454;444	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	H	444;454;444;444;444;444;454;454	.	ENSP00000259751:D444H	D	+	1	0	TJAP1	43581257	1.000000	0.71417	0.106000	0.21319	0.220000	0.24768	5.038000	0.64177	2.334000	0.79466	0.563000	0.77884	GAT		PASS	0.607	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		16	250	16	250	---	---	---	---
TMEM63B	55362	broad.mit.edu	37	6	44107446	44107446	+	Splice_Site	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:44107446G>C	ENST00000259746.9	+	8	735	c.552G>C	c.(550-552)gaG>gaC	p.E184D	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Splice_Site_p.E184D			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	184					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.E184D(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ACCCCACAGAGAACAATGCCT	0.592																																						uc003owr.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(550-552)GAG>GAC		transmembrane protein 63B							155.0	128.0	137.0					6																	44107446		2203	4300	6503	SO:0001630	splice_region_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44107446G>C	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.551-1G>C	6.37:g.44107446G>C						TMEM63B_uc003owq.1_Missense_Mutation_p.E184D|TMEM63B_uc010jyy.1_Missense_Mutation_p.E87D|TMEM63B_uc003ows.2_Missense_Mutation_p.E87D|TMEM63B_uc010jyz.2_RNA	p.E184D	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		8	616	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		184					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.552G>C	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.822|1.822	-0.471953|-0.471953	0.04445|0.04445	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267|ENST00000371893	T;T;T|.	0.38401|.	1.14;1.14;1.14|.	4.31|4.31	1.28|1.28	0.21552|0.21552	.|.	0.052823|.	0.85682|.	D|.	0.000000|.	T|T	0.19167|0.19167	0.0460|0.0460	N|N	0.17474|0.17474	0.49|0.49	0.38546|0.38546	D|D	0.949338|0.949338	B;B;B|.	0.10296|.	0.0;0.0;0.003|.	B;B;B|.	0.09377|.	0.001;0.002;0.004|.	T|T	0.03728|0.03728	-1.1009|-1.1009	10|5	0.02654|.	T|.	1|.	.|.	7.2017|7.2017	0.25885|0.25885	0.4792:0.0:0.5208:0.0|0.4792:0.0:0.5208:0.0	.|.	184;184;184|.	Q5T3F8-3;Q5T3F8;Q5T3F8-2|.	.;TM63B_HUMAN;.|.	D|T	184|113	ENSP00000259746:E184D;ENSP00000437163:E184D;ENSP00000327154:E184D|.	ENSP00000259746:E184D|.	E|R	+|+	3|2	2|0	TMEM63B|TMEM63B	44215424|44215424	0.994000|0.994000	0.37717|0.37717	0.995000|0.995000	0.50966|0.50966	0.878000|0.878000	0.50629|0.50629	0.468000|0.468000	0.22051|0.22051	0.475000|0.475000	0.27415|0.27415	0.462000|0.462000	0.41574|0.41574	GAG|AGA		PASS	0.592	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	Missense_Mutation	7	280	7	280	---	---	---	---
TMEM63B	55362	broad.mit.edu	37	6	44116030	44116030	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:44116030G>A	ENST00000259746.9	+	13	1212	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	TMEM63B_ENST00000323267.6_Silent_p.L343L			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	343					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.L343L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGCAGAAGCTGAAGGAAGACT	0.547																																						uc003owr.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(1027-1029)CTG>CTA		transmembrane protein 63B							109.0	91.0	97.0					6																	44116030		2203	4300	6503	SO:0001819	synonymous_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44116030G>A	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1029G>A	6.37:g.44116030G>A						TMEM63B_uc003owq.1_Silent_p.L343L|TMEM63B_uc003ows.2_Silent_p.L246L|TMEM63B_uc010jyz.2_RNA	p.L343L	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		13	1093	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		343					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	c.1029G>A	CCDS34461.1																																																																																				PASS	0.547	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		21	178	21	178	---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44217143	44217143	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:44217143G>C	ENST00000371554.1	+	3	391	c.177G>C	c.(175-177)ctG>ctC	p.L59L	HSP90AB1_ENST00000353801.3_Silent_p.L59L|HSP90AB1_ENST00000371646.5_Silent_p.L59L			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	59					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.L59L(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGAGAGCCTGACAGACCCTT	0.478																																						uc003oxa.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(1)	4						c.(175-177)CTG>CTC		heat shock 90kDa protein 1, beta							86.0	78.0	81.0					6																	44217143		2203	4300	6503	SO:0001819	synonymous_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217143G>C	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.177G>C	6.37:g.44217143G>C						HSP90AB1_uc011dvr.1_Silent_p.L59L|HSP90AB1_uc003oxb.1_Silent_p.L59L|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank	p.L59L	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	261	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		59					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	c.177G>C	CCDS4909.1																																																																																				PASS	0.478	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		16	162	16	162	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46669616	46669616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:46669616G>T	ENST00000316081.6	+	4	6283	c.6283G>T	c.(6283-6285)Gag>Tag	p.E2095*	TDRD6_ENST00000544460.1_Nonsense_Mutation_p.E2065*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	2095					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.E2095*(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGAGGTGATGGAGATTTAACC	0.383																																						uc003oyj.2																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(6283-6285)GAG>TAG		tudor domain containing 6							191.0	185.0	187.0					6																	46669616		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46669616G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.6283G>T	6.37:g.46669616G>T	ENSP00000346065:p.Glu2095*					TDRD6_uc010jze.2_Nonsense_Mutation_p.E2059*	p.E2095*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		4	6283	+			2095					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.6283G>T	CCDS34470.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	40|40|40	8.236826|8.236826|8.236826	0.98719|0.98719|0.98719	.|.|.	.|.|.	ENSG00000180113|ENSG00000180113|ENSG00000180113	ENST00000544460;ENST00000316081|ENST00000371334|ENST00000450697	.|.|.	.|.|.	.|.|.	4.42|4.42|4.42	-7.79|-7.79|-7.79	0.01218|0.01218|0.01218	.|.|.	5.428970|.|.	0.00166|.|.	N|.|.	0.000001|.|.	.|T|T	.|0.10937|0.10937	.|0.0267|0.0267	.|.|.	.|.|.	.|.|.	0.09310|0.09310|0.09310	N|N|N	0.999995|0.999995|0.999995	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.23547|0.23547	.|-1.0185|-1.0185	.|5|4	0.66056|0.32370|.	D|T|.	0.02|0.25|.	12.4614|12.4614|12.4614	8.7954|8.7954|8.7954	0.34876|0.34876|0.34876	0.0:0.4179:0.4032:0.1789|0.0:0.4179:0.4032:0.1789|0.0:0.4179:0.4032:0.1789	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	2065;2095|177|168	.|.|.	ENSP00000346065:E2095X|ENSP00000360385:G177V|.	E|G|W	+|+|+	1|2|3	0|0|0	TDRD6|TDRD6|TDRD6	46777575|46777575|46777575	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.052000|0.052000|0.052000	0.14988|0.14988|0.14988	-0.680000|-0.680000|-0.680000	0.05197|0.05197|0.05197	-1.622000|-1.622000|-1.622000	0.01560|0.01560|0.01560	-0.485000|-0.485000|-0.485000	0.04761|0.04761|0.04761	GAG|GGA|TGG		PASS	0.383	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		42	346	42	346	---	---	---	---
OPN5	221391	broad.mit.edu	37	6	47762984	47762984	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:47762984G>C	ENST00000371211.2	+	4	469	c.441G>C	c.(439-441)aaG>aaC	p.K147N	OPN5_ENST00000393699.2_Missense_Mutation_p.K147N|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000489301.2_Missense_Mutation_p.K147N	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	147					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.K147N(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGAAAAGAAAGCACGCCTACA	0.547																																					Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)AAG>AAC		opsin 5 isoform 1							40.0	36.0	38.0					6																	47762984		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47762984G>C	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.441G>C	6.37:g.47762984G>C	ENSP00000360255:p.Lys147Asn					OPN5_uc003ozd.2_5'UTR	p.K147N	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			4	446	+			147			Cytoplasmic (Potential).		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.441G>C	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599576	0.28534	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.40225	1.04;1.04;1.04	5.78	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.292305	0.44097	D	0.000491	T	0.07638	0.0192	N	0.12443	0.215	0.35087	D	0.763982	B	0.10296	0.003	B	0.11329	0.006	T	0.17349	-1.0372	10	0.02654	T	1	.	8.3826	0.32481	0.0:0.3808:0.3359:0.2833	.	147	Q6U736	OPN5_HUMAN	N	147	ENSP00000426991:K147N;ENSP00000360255:K147N;ENSP00000377302:K147N	ENSP00000360255:K147N	K	+	3	2	OPN5	47870943	0.880000	0.30214	1.000000	0.80357	0.998000	0.95712	-0.036000	0.12185	2.735000	0.93741	0.557000	0.71058	AAG		PASS	0.547	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		13	59	13	59	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52874338	52874338	+	Missense_Mutation	SNP	G	G	A	rs535382697		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:52874338G>A	ENST00000350082.5	-	12	1866	c.1520C>T	c.(1519-1521)tCg>tTg	p.S507L	ICK_ENST00000356971.3_Missense_Mutation_p.S507L	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	507					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S507L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCCTGGATTCGAGAGTATgcc	0.343													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20582	0.0		0.0	False		,,,				2504	0.0					uc003pbh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(1519-1521)TCG>TTG		intestinal cell kinase							158.0	139.0	145.0					6																	52874338		2203	4300	6503	SO:0001583	missense	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52874338G>A	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1520C>T	6.37:g.52874338G>A	ENSP00000263043:p.Ser507Leu					ICK_uc003pbi.2_Missense_Mutation_p.S507L	p.S507L	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN			13	2010	-	Lung NSC(77;0.103)		507					A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	c.1520C>T	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	G	8.098	0.776016	0.16051	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.72051	-0.62;-0.62	5.57	5.57	0.84162	.	0.586640	0.17758	N	0.163010	T	0.34337	0.0894	N	0.08118	0	0.31551	N	0.658699	B	0.02656	0.0	B	0.01281	0.0	T	0.03818	-1.1001	10	0.16896	T	0.51	-0.0127	17.0728	0.86579	0.0:0.0:1.0:0.0	.	507	Q9UPZ9	ICK_HUMAN	L	507	ENSP00000263043:S507L;ENSP00000349458:S507L	ENSP00000263043:S507L	S	-	2	0	ICK	52982297	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	3.980000	0.56895	2.785000	0.95823	0.591000	0.81541	TCG		PASS	0.343	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		81	138	81	138	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55214895	55214895	+	Missense_Mutation	SNP	G	G	T	rs147652095	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:55214895G>T	ENST00000340465.2	+	4	408	c.322G>T	c.(322-324)Gtg>Ttg	p.V108L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	108					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V108L(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCTAGATAACGTGAAAGAGGA	0.299																																						uc003pcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(322-324)GTG>TTG		GDNF family receptor alpha like precursor							72.0	71.0	71.0					6																	55214895		2200	4296	6496	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55214895G>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.322G>T	6.37:g.55214895G>T	ENSP00000343636:p.Val108Leu						p.V108L	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	408	+	Lung NSC(77;0.0875)|Renal(3;0.122)		108			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.322G>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	G	0.883	-0.728226	0.03135	.	.	ENSG00000187871	ENST00000340465	T	0.30981	1.51	4.67	-0.791	0.10929	.	4.463300	0.00654	N	0.000562	T	0.03739	0.0106	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19778	-1.0295	10	0.27785	T	0.31	-9.4429	3.5849	0.07967	0.5626:0.0:0.2789:0.1585	.	108	Q6UXV0	GFRAL_HUMAN	L	108	ENSP00000343636:V108L	ENSP00000343636:V108L	V	+	1	0	GFRAL	55322854	0.005000	0.15991	0.006000	0.13384	0.019000	0.09904	0.019000	0.13444	-0.324000	0.08589	-0.294000	0.09567	GTG		PASS	0.299	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		45	91	45	91	---	---	---	---
DST	667	broad.mit.edu	37	6	56504285	56504285	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:56504285C>G	ENST00000361203.3	-	17	2196	c.2189G>C	c.(2188-2190)aGa>aCa	p.R730T	DST_ENST00000518935.1_Missense_Mutation_p.R404T|DST_ENST00000244364.6_Missense_Mutation_p.R404T|DST_ENST00000370765.6_Missense_Mutation_p.R404T|DST_ENST00000421834.2_Missense_Mutation_p.R730T|DST_ENST00000312431.6_Missense_Mutation_p.R730T|DST_ENST00000370769.4_Missense_Mutation_p.R730T|DST_ENST00000370754.5_Missense_Mutation_p.R908T|DST_ENST00000446842.2_Missense_Mutation_p.R404T|DST_ENST00000370788.2_Missense_Mutation_p.R730T			Q03001	DYST_HUMAN	dystonin	730					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R404T(6)|p.R730T(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTGGTGTTTCTCTCACTCCA	0.353																																						uc003pdf.2																			8	Substitution - Missense(8)		lung(8)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(2722-2724)AGA>ACA		dystonin isoform 2							123.0	123.0	123.0					6																	56504285		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504285C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2189G>C	6.37:g.56504285C>G	ENSP00000354508:p.Arg730Thr					DST_uc003pcz.3_Missense_Mutation_p.R730T|DST_uc011dxj.1_Missense_Mutation_p.R759T|DST_uc011dxk.1_Missense_Mutation_p.R770T|DST_uc011dxl.1_Missense_Mutation_p.R759T|DST_uc003pcy.3_Missense_Mutation_p.R404T|DST_uc003pdb.2_Missense_Mutation_p.R404T|DST_uc003pdc.3_Missense_Mutation_p.R404T|DST_uc003pdd.3_Missense_Mutation_p.R404T|DST_uc003pde.2_Missense_Mutation_p.R846T	p.R908T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		20	2751	-	Lung NSC(77;0.103)		730			Spectrin 1.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2723G>C		.	.	.	.	.	.	.	.	.	.	C	20.8	4.052677	0.75960	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;D;D;T;D;T;T;D;T;T;T;T	0.92446	0.87;-3.04;-3.04;0.87;-3.04;0.87;0.87;-3.04;0.87;0.87;0.87;0.87	5.34	4.47	0.54385	.	0.000000	0.56097	D	0.000022	D	0.93128	0.7812	L	0.59436	1.845	0.34160	D	0.668618	D;P;D;P;D;P;D;D;P;B	0.76494	0.993;0.698;0.976;0.804;0.995;0.534;0.968;0.999;0.517;0.305	D;B;B;B;D;B;P;D;B;B	0.74023	0.977;0.142;0.445;0.142;0.982;0.091;0.614;0.971;0.04;0.039	D	0.93097	0.6505	9	0.44086	T	0.13	.	14.0017	0.64437	0.0:0.9276:0.0:0.0724	.	759;730;730;908;846;404;404;404;730;404	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	T	404;908;730;730;404;730;730;730;404;770;404;404	ENSP00000244364:R404T;ENSP00000359790:R908T;ENSP00000359805:R730T;ENSP00000400883:R730T;ENSP00000393645:R404T;ENSP00000307959:R730T;ENSP00000359824:R730T;ENSP00000354508:R730T;ENSP00000404924:R404T;ENSP00000431030:R770T;ENSP00000359801:R404T;ENSP00000431003:R404T	ENSP00000244364:R404T	R	-	2	0	DST	56612244	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	5.932000	0.70121	1.478000	0.48253	0.650000	0.86243	AGA		PASS	0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		46	332	46	332	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64421998	64421998	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:64421998C>G	ENST00000262043.3	+	16	4854	c.4514C>G	c.(4513-4515)tCa>tGa	p.S1505*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.S1505*			Q92576	PHF3_HUMAN	PHD finger protein 3	1505					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S1505*(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAGACCAACTCAAAAATAGAG	0.358																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(4513-4515)TCA>TGA		PHD finger protein 3							44.0	47.0	46.0					6																	64421998		2201	4296	6497	SO:0001587	stop_gained	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64421998C>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4514C>G	6.37:g.64421998C>G	ENSP00000262043:p.Ser1505*					PHF3_uc003pen.2_Nonsense_Mutation_p.S1417*|PHF3_uc011dxs.1_Nonsense_Mutation_p.S774*	p.S1505*	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	4540	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1505					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	c.4514C>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	38	6.750490	0.97809	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	.	.	.	5.96	1.02	0.19986	.	0.926943	0.08808	N	0.890679	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	4.0861	8.7096	0.34376	0.0:0.3881:0.0:0.6119	.	.	.	.	X	774;1505;1505	.	ENSP00000262043:S1505X	S	+	2	0	PHF3	64479957	0.000000	0.05858	0.000000	0.03702	0.424000	0.31475	-0.111000	0.10807	0.093000	0.17368	0.655000	0.94253	TCA		PASS	0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			26	140	26	140	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69703688	69703688	+	Missense_Mutation	SNP	G	G	C	rs369405391		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:69703688G>C	ENST00000370598.1	+	11	2584	c.1763G>C	c.(1762-1764)cGa>cCa	p.R588P		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	588					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R588P(1)|p.R588Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418																																						uc003pev.3																			2	Substitution - Missense(2)		lung(1)|skin(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1762-1764)CGA>CCA		brain-specific angiogenesis inhibitor 3							212.0	227.0	222.0					6																	69703688		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703688G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1763G>C	6.37:g.69703688G>C	ENSP00000359630:p.Arg588Pro					BAI3_uc010kak.2_Missense_Mutation_p.R588P	p.R588P	NM_001704	NP_001695	O60242	BAI3_HUMAN			11	2211	+		all_lung(197;0.212)	588			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1763G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037943	0.93630	.	.	ENSG00000135298	ENST00000370598	T	0.12569	2.67	5.85	5.85	0.93711	Domain of unknown function DUF3497 (1);	0.072165	0.52532	D	0.000077	T	0.31979	0.0814	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01993	-1.1233	10	0.72032	D	0.01	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	588	O60242	BAI3_HUMAN	P	588	ENSP00000359630:R588P	ENSP00000359630:R588P	R	+	2	0	BAI3	69760409	1.000000	0.71417	0.739000	0.30968	0.993000	0.82548	9.837000	0.99465	2.772000	0.95346	0.650000	0.86243	CGA		PASS	0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			58	509	58	509	---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70386398	70386398	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:70386398G>A	ENST00000370577.3	-	15	1682	c.1453C>T	c.(1453-1455)Cac>Tac	p.H485Y	LMBRD1_ENST00000370570.1_Missense_Mutation_p.H412Y	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	485					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.H485Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CAGAACTTGTGAAGGAATAGG	0.383																																						uc003pfa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1453-1455)CAC>TAC		liver regeneration p-53 related protein							96.0	90.0	92.0					6																	70386398		2203	4300	6503	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70386398G>A	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1453C>T	6.37:g.70386398G>A	ENSP00000359609:p.His485Tyr					LMBRD1_uc003pey.2_Missense_Mutation_p.H281Y|LMBRD1_uc003pez.2_Missense_Mutation_p.H412Y|LMBRD1_uc010kal.2_Missense_Mutation_p.H412Y|LMBRD1_uc003pfb.2_RNA	p.H485Y	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			15	1568	-			485			Extracellular (Potential).		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.1453C>T	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305141	0.81247	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.16743	2.32;2.32	5.28	5.28	0.74379	.	0.046847	0.85682	D	0.000000	T	0.08179	0.0204	L	0.29908	0.895	0.80722	D	1	P	0.48764	0.915	P	0.47603	0.551	T	0.01930	-1.1245	10	0.02654	T	1	-8.5973	18.905	0.92456	0.0:0.0:1.0:0.0	.	485	Q9NUN5	LMBD1_HUMAN	Y	485;412	ENSP00000359609:H485Y;ENSP00000359602:H412Y	ENSP00000359602:H412Y	H	-	1	0	LMBRD1	70443119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.824000	0.99380	2.467000	0.83353	0.591000	0.81541	CAC		PASS	0.383	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		14	97	14	97	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70859600	70859600	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:70859600C>G	ENST00000322773.4	+	28	2000	c.1898C>G	c.(1897-1899)gCc>gGc	p.A633G	COL19A1_ENST00000393344.1_Missense_Mutation_p.A255G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	633	Collagen-like 6.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.A633G(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACTCAGGGCGCCCAAGGACCA	0.378																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1897-1899)GCC>GGC		alpha 1 type XIX collagen precursor							79.0	86.0	84.0					6																	70859600		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70859600C>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1898C>G	6.37:g.70859600C>G	ENSP00000316030:p.Ala633Gly					COL19A1_uc010kam.1_Missense_Mutation_p.A529G	p.A633G	NM_001858	NP_001849	Q14993	COJA1_HUMAN			28	2015	+			633			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1898C>G	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318508	0.23994	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93426	-3.22;-3.22	5.76	5.76	0.90799	.	0.147583	0.47093	D	0.000244	T	0.81697	0.4877	L	0.29908	0.895	0.22213	N	0.999288	B	0.02656	0.0	B	0.11329	0.006	T	0.66376	-0.5939	10	0.25106	T	0.35	.	12.8073	0.57619	0.0:0.9249:0.0:0.0751	.	633	Q14993	COJA1_HUMAN	G	633;255	ENSP00000316030:A633G;ENSP00000377013:A255G	ENSP00000316030:A633G	A	+	2	0	COL19A1	70916321	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	2.706000	0.47135	2.880000	0.98712	0.650000	0.86243	GCC		PASS	0.378	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			44	81	44	81	---	---	---	---
FAM135A	57579	broad.mit.edu	37	6	71236201	71236201	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:71236201G>C	ENST00000418814.2	+	15	4028	c.3414G>C	c.(3412-3414)ctG>ctC	p.L1138L	FAM135A_ENST00000457062.2_Silent_p.L925L|FAM135A_ENST00000361499.3_Silent_p.L942L|FAM135A_ENST00000505868.1_Silent_p.L1138L|FAM135A_ENST00000370479.3_Silent_p.L925L|FAM135A_ENST00000505769.1_Silent_p.L718L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1138								p.L1138L(1)|p.L925L(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GTGACTATCTGAGAGATGGTA	0.368																																						uc003pfj.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(3412-3414)CTG>CTC		hypothetical protein LOC57579 isoform c							157.0	162.0	160.0					6																	71236201		2203	4300	6503	SO:0001819	synonymous_variant	57579							g.chr6:71236201G>C	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3414G>C	6.37:g.71236201G>C						FAM135A_uc003pfi.2_Silent_p.L942L|FAM135A_uc003pfh.2_Silent_p.L925L|FAM135A_uc003pfl.2_Silent_p.L805L|FAM135A_uc003pfn.2_Silent_p.L344L|FAM135A_uc003pfo.1_Silent_p.L509L|FAM135A_uc010kan.1_5'Flank	p.L1138L	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			13	3547	+			1138					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.3414G>C	CCDS55028.1																																																																																				PASS	0.368	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		45	385	45	385	---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73815019	73815019	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:73815019C>A	ENST00000370398.1	+	6	1067	c.958C>A	c.(958-960)Cta>Ata	p.L320I	KCNQ5_ENST00000370392.1_Missense_Mutation_p.L320I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L320I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L320I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L320I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L320I|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L320I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L320I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	320					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.L320I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CAAAACTCCCCTAACTTGGCT	0.408																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(958-960)CTA>ATA		potassium voltage-gated channel, KQT-like							242.0	241.0	241.0					6																	73815019		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73815019C>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.958C>A	6.37:g.73815019C>A	ENSP00000359425:p.Leu320Ile					KCNQ5_uc003pgj.3_Missense_Mutation_p.L320I|KCNQ5_uc011dyh.1_Missense_Mutation_p.L320I|KCNQ5_uc011dyi.1_Missense_Mutation_p.L320I|KCNQ5_uc010kat.2_Missense_Mutation_p.L320I|KCNQ5_uc011dyj.1_Missense_Mutation_p.L320I|KCNQ5_uc011dyk.1_Missense_Mutation_p.L79I	p.L320I	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	6	1305	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	320					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.958C>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764480	0.31228	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	5.85	4.99	0.66335	Ion transport (1);	0.216079	0.39834	N	0.001243	D	0.87545	0.6204	N	0.01009	-1.055	0.31889	N	0.617497	B;B;B;B;B;B	0.18968	0.019;0.02;0.032;0.009;0.026;0.0	B;B;B;B;B;B	0.25140	0.054;0.018;0.058;0.02;0.038;0.022	T	0.79011	-0.1977	10	0.34782	T	0.22	-8.3305	15.1429	0.72623	0.0:0.9322:0.0:0.0678	.	320;320;320;320;320;320	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	I	320	ENSP00000345055:L320I;ENSP00000347326:L320I;ENSP00000359425:L320I;ENSP00000359419:L320I;ENSP00000385501:L320I;ENSP00000347853:L320I;ENSP00000384453:L320I;ENSP00000409861:L320I	ENSP00000345055:L320I	L	+	1	2	KCNQ5	73871740	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.479000	0.35453	1.480000	0.48289	-0.150000	0.13652	CTA		PASS	0.408	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		123	432	123	432	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74466381	74466381	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:74466381C>G	ENST00000287097.5	+	6	761	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	CD109_ENST00000422508.2_Missense_Mutation_p.Q140E|CD109_ENST00000437994.2_Missense_Mutation_p.Q217E			Q6YHK3	CD109_HUMAN	CD109 molecule	217					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.Q217E(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACATACTATCAATCATTTCA	0.313																																						uc003php.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(649-651)CAA>GAA		CD109 antigen isoform 1 precursor							82.0	85.0	84.0					6																	74466381		2203	4293	6496	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74466381C>G	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.649C>G	6.37:g.74466381C>G	ENSP00000287097:p.Gln217Glu					CD109_uc010kaz.2_Missense_Mutation_p.Q217E|CD109_uc003phq.2_Missense_Mutation_p.Q217E|CD109_uc010kba.2_Missense_Mutation_p.Q140E	p.Q217E	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			6	1074	+			217					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.649C>G	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027234	0.54683	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.73469	-0.75;-0.75;-0.75	4.71	4.71	0.59529	Alpha-2-macroglobulin, N-terminal (1);	0.548969	0.19080	N	0.123274	T	0.68933	0.3055	L	0.49640	1.575	0.32861	D	0.507999	P;P;B;P	0.48089	0.905;0.48;0.175;0.771	P;B;B;P	0.50860	0.652;0.198;0.171;0.475	T	0.72130	-0.4383	10	0.62326	D	0.03	.	13.3599	0.60650	0.0:1.0:0.0:0.0	.	140;217;217;217	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	E	217;140;217	ENSP00000388062:Q217E;ENSP00000404475:Q140E;ENSP00000287097:Q217E	ENSP00000287097:Q217E	Q	+	1	0	CD109	74523102	1.000000	0.71417	0.995000	0.50966	0.730000	0.41778	1.737000	0.38197	2.612000	0.88384	0.585000	0.79938	CAA		PASS	0.313	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		34	275	34	275	---	---	---	---
IRAK1BP1	134728	broad.mit.edu	37	6	79607914	79607914	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:79607914G>C	ENST00000369940.2	+	4	751	c.646G>C	c.(646-648)Gat>Cat	p.D216H	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.D129H	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	216					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D216H(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AGGCCAAATAGATGATCACCA	0.363																																						uc003pim.2																			1	Substitution - Missense(1)		lung(1)		0						c.(646-648)GAT>CAT		interleukin-1 receptor-associated kinase 1							85.0	80.0	81.0					6																	79607914		2203	4300	6503	SO:0001583	missense	134728				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr6:79607914G>C	AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.646G>C	6.37:g.79607914G>C	ENSP00000358956:p.Asp216His					IRAK1BP1_uc010kbg.1_Intron|IRAK1BP1_uc003pin.2_Missense_Mutation_p.D129H	p.D216H	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.21)	4	751	+		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)	216						Missense_Mutation	SNP	ENST00000369940.2	37	c.646G>C	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613448	0.66672	.	.	ENSG00000146243	ENST00000369940	.	.	.	4.84	4.84	0.62591	.	0.344424	0.30011	N	0.010630	T	0.60958	0.2309	L	0.47716	1.5	0.40423	D	0.979861	D	0.63880	0.993	D	0.64877	0.93	T	0.58589	-0.7610	8	.	.	.	-4.985	16.6771	0.85282	0.0:0.0:1.0:0.0	.	216	Q5VVH5	IKBP1_HUMAN	H	216	.	.	D	+	1	0	IRAK1BP1	79664633	1.000000	0.71417	0.853000	0.33588	0.955000	0.61496	6.772000	0.75001	2.506000	0.84524	0.655000	0.94253	GAT		PASS	0.363	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	XM_059729		3	127	3	127	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79650830	79650830	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:79650830G>C	ENST00000275034.4	-	40	5213	c.5046C>G	c.(5044-5046)atC>atG	p.I1682M	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1682					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.I1682M(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTTCATCTCTGATGGGATGCA	0.363																																						uc003pir.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(5044-5046)ATC>ATG		pleckstrin homology domain interacting protein							188.0	178.0	181.0					6																	79650830		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79650830G>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5046C>G	6.37:g.79650830G>C	ENSP00000275034:p.Ile1682Met					PHIP_uc003piq.2_Missense_Mutation_p.I706M|PHIP_uc011dyp.1_Missense_Mutation_p.I1681M|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.3_Missense_Mutation_p.I568M	p.I1682M	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	40	5272	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1682					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.5046C>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.611895	0.28712	.	.	ENSG00000146247	ENST00000275034	T	0.40225	1.04	5.87	5.0	0.66597	.	0.637296	0.16634	N	0.205939	T	0.09069	0.0224	N	0.14661	0.345	0.30952	N	0.724575	B;B	0.25169	0.119;0.119	B;B	0.21917	0.037;0.037	T	0.17715	-1.0360	9	.	.	.	-0.5867	5.8718	0.18807	0.1571:0.0:0.6775:0.1653	.	1682;1682	A7J992;Q8WWQ0	.;PHIP_HUMAN	M	1682	ENSP00000275034:I1682M	.	I	-	3	3	PHIP	79707549	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	2.499000	0.45372	1.492000	0.48499	0.650000	0.86243	ATC		PASS	0.363	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			18	553	18	553	---	---	---	---
UBE3D	90025	broad.mit.edu	37	6	83748181	83748181	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:83748181T>C	ENST00000369747.3	-	5	743	c.621A>G	c.(619-621)gtA>gtG	p.V207V		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	207					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)	p.V207V(1)									GCTTACAAATTACTTTGGTAT	0.348																																						uc003pjp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(619-621)GTA>GTG		ubiquitin-conjugating enzyme E2C binding							161.0	165.0	163.0					6																	83748181		2203	4300	6503	SO:0001819	synonymous_variant	90025					cytoplasm	ligase activity	g.chr6:83748181T>C	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.621A>G	6.37:g.83748181T>C						UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Silent_p.V175V	p.V207V	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0944)	5	729	-		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)	207					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Silent	SNP	ENST00000369747.3	37	c.621A>G	CCDS34491.1																																																																																				PASS	0.348	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		61	196	61	196	---	---	---	---
ANKRD6	22881	broad.mit.edu	37	6	90333770	90333770	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:90333770G>A	ENST00000522441.1	+	12	1853	c.1212G>A	c.(1210-1212)gtG>gtA	p.V404V	ANKRD6_ENST00000339746.4_Silent_p.V404V|ANKRD6_ENST00000369408.5_Silent_p.V369V|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Silent_p.V345V|ANKRD6_ENST00000447838.2_Silent_p.V404V	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	404					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V404V(1)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		ATGGGAAAGTGATGCAGGTAC	0.527																																						uc003pni.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1210-1212)GTG>GTA		ankyrin repeat domain 6							48.0	49.0	49.0					6																	90333770		2022	4178	6200	SO:0001819	synonymous_variant	22881						protein binding	g.chr6:90333770G>A	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1212G>A	6.37:g.90333770G>A						ANKRD6_uc003pne.3_Silent_p.V404V|ANKRD6_uc003pnf.3_Silent_p.V369V|ANKRD6_uc011dzy.1_Silent_p.V404V|ANKRD6_uc010kcd.2_Silent_p.V345V|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_5'UTR	p.V404V	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	12	1553	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	404					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	37	c.1212G>A	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.327037	0.24080	.	.	ENSG00000135299	ENST00000492158	.	.	.	6.02	-0.59	0.11679	.	.	.	.	.	T	0.23532	0.0569	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24584	-1.0156	4	.	.	.	-22.8284	1.4487	0.02370	0.1987:0.2643:0.3329:0.2041	.	.	.	.	N	29	.	.	D	+	1	0	ANKRD6	90390491	0.646000	0.27295	0.999000	0.59377	0.979000	0.70002	-0.164000	0.09983	0.114000	0.18032	0.655000	0.94253	GAT		PASS	0.527	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			11	25	11	25	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90382322	90382322	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:90382322C>G	ENST00000369393.3	-	81	13689	c.13574G>C	c.(13573-13575)aGa>aCa	p.R4525T	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.R4525T|MDN1_ENST00000468568.1_5'Flank			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4525					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.R4525T(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)		TTCATTCTTTCTTTCTTCTAA	0.403																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(13573-13575)AGA>ACA		MDN1, midasin homolog							100.0	104.0	103.0					6																	90382322		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90382322C>G	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.13574G>C	6.37:g.90382322C>G	ENSP00000358400:p.Arg4525Thr						p.R4525T	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	81	13690	-		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)	4525					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.13574G>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	7.808	0.715041	0.15306	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.32023	1.47;1.47	6.06	4.29	0.51040	.	0.109437	0.64402	D	0.000011	T	0.13586	0.0329	M	0.72118	2.19	0.37691	D	0.923852	B	0.10296	0.003	B	0.10450	0.005	T	0.07366	-1.0776	10	0.15066	T	0.55	.	8.1677	0.31237	0.0:0.7331:0.1304:0.1365	.	4525	Q9NU22	MDN1_HUMAN	T	4525	ENSP00000358400:R4525T;ENSP00000413970:R4525T	ENSP00000358400:R4525T	R	-	2	0	MDN1	90439043	1.000000	0.71417	0.958000	0.39756	0.283000	0.27025	2.007000	0.40883	0.900000	0.36469	0.655000	0.94253	AGA		PASS	0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			5	229	5	229	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90440532	90440532	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:90440532C>G	ENST00000369393.3	-	35	5168	c.5053G>C	c.(5053-5055)Gag>Cag	p.E1685Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E1685Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1685					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.E1685Q(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)		ATCTTCAACTCATTTTTCTGA	0.368																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(5053-5055)GAG>CAG		MDN1, midasin homolog							110.0	101.0	104.0					6																	90440532		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90440532C>G	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.5053G>C	6.37:g.90440532C>G	ENSP00000358400:p.Glu1685Gln						p.E1685Q	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	35	5169	-		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)	1685					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.5053G>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644685	0.29246	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03181	4.02;4.02	5.62	3.58	0.41010	.	0.184621	0.46442	D	0.000290	T	0.01156	0.0038	N	0.25380	0.74	0.38472	D	0.947485	B	0.19935	0.04	B	0.17098	0.017	T	0.49273	-0.8957	10	0.13853	T	0.58	.	11.378	0.49739	0.0:0.7908:0.1315:0.0777	.	1685	Q9NU22	MDN1_HUMAN	Q	1685	ENSP00000358400:E1685Q;ENSP00000413970:E1685Q	ENSP00000358400:E1685Q	E	-	1	0	MDN1	90497253	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.508000	0.53378	2.639000	0.89480	0.585000	0.79938	GAG		PASS	0.368	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			24	186	24	186	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90574048	90574048	+	RNA	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:90574048G>C	ENST00000551025.1	+	0	4057									caspase 8 associated protein 2									p.E874Q(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTTAGAAATGAAAGCCCACC	0.358																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2620-2622)GAA>CAA		caspase 8 associated protein 2							39.0	39.0	39.0					6																	90574048		1840	4090	5930			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90574048G>C	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90574048G>C						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E874Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E874Q	p.E874Q	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	2816	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	874						Missense_Mutation	SNP	ENST00000551025.1	37	c.2620G>C																																																																																					PASS	0.358	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		3	28	3	28	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90576206	90576206	+	RNA	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:90576206A>G	ENST00000551025.1	+	0	4634									caspase 8 associated protein 2									p.H1066R(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATACAATTTCACAGAATTATT	0.284																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3196-3198)CAC>CGC		caspase 8 associated protein 2							25.0	23.0	24.0					6																	90576206		1788	4043	5831			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90576206A>G	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576206A>G						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.H1066R|CASP8AP2_uc011dzz.1_Missense_Mutation_p.H1066R	p.H1066R	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	3393	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1066						Missense_Mutation	SNP	ENST00000551025.1	37	c.3197A>G																																																																																					PASS	0.284	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		10	22	10	22	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90578413	90578413	+	RNA	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:90578413C>A	ENST00000551025.1	+	0	6841									caspase 8 associated protein 2									p.P1802T(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CACAGAATCTCCCAGTTCATG	0.383																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5404-5406)CCC>ACC		caspase 8 associated protein 2							56.0	54.0	55.0					6																	90578413		1859	4097	5956			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90578413C>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578413C>A						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.P1802T|CASP8AP2_uc011dzz.1_Missense_Mutation_p.P1802T	p.P1802T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	5600	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1802			NCOA2-binding.			Missense_Mutation	SNP	ENST00000551025.1	37	c.5404C>A																																																																																					PASS	0.383	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		34	52	34	52	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	93956688	93956688	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:93956688C>G	ENST00000369303.4	-	15	2732	c.2548G>C	c.(2548-2550)Gaa>Caa	p.E850Q		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	850	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.E850Q(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAACCTTCTTCTATTGCTTTT	0.378																																						uc003poe.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2548-2550)GAA>CAA		ephrin receptor EphA7 precursor							66.0	67.0	66.0					6																	93956688		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956688C>G	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2548G>C	6.37:g.93956688C>G	ENSP00000358309:p.Glu850Gln					EPHA7_uc003pof.2_Missense_Mutation_p.E845Q|EPHA7_uc011eac.1_Missense_Mutation_p.E846Q	p.E850Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2789	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	850			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2548G>C	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751728	0.89753	.	.	ENSG00000135333	ENST00000369303	D	0.83335	-1.71	5.97	5.11	0.69529	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.049310	0.85682	D	0.000000	T	0.80879	0.4708	L	0.39633	1.23	0.80722	D	1	B;D;D	0.67145	0.215;0.996;0.996	B;P;P	0.56216	0.062;0.69;0.794	D	0.84299	0.0504	10	0.87932	D	0	.	15.4818	0.75534	0.0:0.9335:0.0:0.0665	.	846;845;850	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	Q	850	ENSP00000358309:E850Q	ENSP00000358309:E850Q	E	-	1	0	EPHA7	94013409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	1.538000	0.49270	0.585000	0.79938	GAA		PASS	0.378	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			10	113	10	113	---	---	---	---
POU3F2	5454	broad.mit.edu	37	6	99283482	99283482	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:99283482C>T	ENST00000328345.5	+	1	903	c.733C>T	c.(733-735)Ccg>Tcg	p.P245S		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	245					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P245S(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		cccgccgcccccgcAGGGTCC	0.741																																						uc003ppe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CCG>TCG		POU domain, class 3, transcription factor 2							16.0	20.0	18.0					6																	99283482		2156	4211	6367	SO:0001583	missense	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283482C>T	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.733C>T	6.37:g.99283482C>T	ENSP00000329170:p.Pro245Ser						p.P245S	NM_005604	NP_005595	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	903	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	245					Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	ENST00000328345.5	37	c.733C>T	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.241992	0.10077	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	T	0.70045	-0.45	3.46	3.46	0.39613	.	.	.	.	.	T	0.51534	0.1680	N	0.14661	0.345	0.34012	D	0.651606	D	0.57571	0.98	D	0.70227	0.968	T	0.48151	-0.9060	9	0.17832	T	0.49	.	11.9559	0.52981	0.0:1.0:0.0:0.0	.	245	P20265	PO3F2_HUMAN	S	245;178	ENSP00000329170:P245S	ENSP00000329170:P245S	P	+	1	0	POU3F2	99390203	0.973000	0.33851	1.000000	0.80357	0.722000	0.41435	2.250000	0.43178	1.769000	0.52152	0.195000	0.17529	CCG		PASS	0.741	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			20	69	20	69	---	---	---	---
PRDM13	59336	broad.mit.edu	37	6	100062549	100062549	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:100062549A>G	ENST00000369215.4	+	4	2343	c.2038A>G	c.(2038-2040)Aag>Gag	p.K680E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	680					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.K680E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TGGGGATCCCAAGAGCGACGA	0.692																																						uc003pqg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2038-2040)AAG>GAG		PR domain containing 13							24.0	27.0	26.0					6																	100062549		1765	3866	5631	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062549A>G	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.2038A>G	6.37:g.100062549A>G	ENSP00000358217:p.Lys680Glu						p.K680E	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	2299	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	680					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.2038A>G	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.885270	0.91814	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.06294	3.32;3.33	5.8	5.8	0.92144	.	0.000000	0.43747	D	0.000536	T	0.08492	0.0211	L	0.32530	0.975	0.50039	D	0.999843	D	0.76494	0.999	D	0.80764	0.994	T	0.47837	-0.9086	10	0.19147	T	0.46	-20.1023	16.1461	0.81569	1.0:0.0:0.0:0.0	.	680	Q9H4Q3	PRD13_HUMAN	E	680;690	ENSP00000358217:K680E;ENSP00000358216:K690E	ENSP00000358216:K690E	K	+	1	0	PRDM13	100169270	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.790000	0.55461	2.219000	0.72066	0.533000	0.62120	AAG		PASS	0.692	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			32	73	32	73	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101095199	101095199	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:101095199C>G	ENST00000369162.2	-	21	3725	c.3381G>C	c.(3379-3381)ttG>ttC	p.L1127F		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1127	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.L1127F(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAATTGTCTCAAAGGGCTAG	0.413																																						uc003pqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(3379-3381)TTG>TTC		activating signal cointegrator 1 complex subunit							124.0	121.0	122.0					6																	101095199		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101095199C>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3381G>C	6.37:g.101095199C>G	ENSP00000358159:p.Leu1127Phe					ASCC3_uc011eai.1_Missense_Mutation_p.L1029F	p.L1127F	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	21	3710	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1127			SEC63 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.3381G>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222312	0.58560	.	.	ENSG00000112249	ENST00000369162	T	0.71817	-0.6	5.73	4.86	0.63082	Sec63 domain (3);	0.000000	0.64402	D	0.000001	T	0.70996	0.3288	M	0.66560	2.04	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	T	0.73603	-0.3930	10	0.44086	T	0.13	.	7.9366	0.29933	0.0:0.7266:0.1326:0.1409	.	1127	Q8N3C0	HELC1_HUMAN	F	1127	ENSP00000358159:L1127F	ENSP00000358159:L1127F	L	-	3	2	ASCC3	101201920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.676000	0.37565	1.427000	0.47276	0.655000	0.94253	TTG		PASS	0.413	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		20	187	20	187	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109867070	109867070	+	Splice_Site	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:109867070C>G	ENST00000424296.2	-	26	3301	c.3225G>C	c.(3223-3225)caG>caC	p.Q1075H	AK9_ENST00000341338.6_Splice_Site_p.Q154H|AK9_ENST00000355283.1_Splice_Site_p.Q154H	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1075	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.Q154H(2)|p.Q1075H(1)									AGATTACTACCTGCTTTTTTG	0.383																																						uc003ptn.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(3223-3225)CAG>CAC		adenylate kinase domain containing 1 isoform 1							78.0	77.0	77.0					6																	109867070		2202	4300	6502	SO:0001630	splice_region_variant	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109867070C>G	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3225+1G>C	6.37:g.109867070C>G						AKD1_uc011eat.1_Missense_Mutation_p.Q154H	p.Q1075H	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			26	3302	-			1075					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.3225G>C	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.16|17.16	3.317676|3.317676	0.60524|0.60524	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338|ENST00000491875	T;T;T|.	0.65549|.	-0.14;-0.09;-0.16|.	5.47|5.47	4.6|4.6	0.57074|0.57074	ATPase, AAA+ type, core (1);|.	0.970769|.	0.08543|.	N|.	0.930271|.	T|T	0.20659|0.20659	0.0497|0.0497	L|L	0.36672|0.36672	1.1|1.1	0.29456|0.29456	N|N	0.85809|0.85809	P;B|.	0.45348|.	0.856;0.003|.	B;B|.	0.41202|.	0.35;0.004|.	T|T	0.12016|0.12016	-1.0564|-1.0564	9|5	.|.	.|.	.|.	.|.	9.5925|9.5925	0.39554|0.39554	0.1406:0.7878:0.0:0.0717|0.1406:0.7878:0.0:0.0717	.|.	154;1075|.	Q5TCS8-5;Q5TCS8|.	.;AKD1_HUMAN|.	H|T	1075;154;154|10	ENSP00000410186:Q1075H;ENSP00000347431:Q154H;ENSP00000344637:Q154H|.	.|.	Q|S	-|-	3|2	2|0	AKD1|AKD1	109973763|109973763	0.115000|0.115000	0.22152|0.22152	0.958000|0.958000	0.39756|0.39756	0.140000|0.140000	0.21249|0.21249	0.656000|0.656000	0.24948|0.24948	1.448000|1.448000	0.47680|0.47680	0.557000|0.557000	0.71058|0.71058	CAG|AGC		PASS	0.383	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	Missense_Mutation	27	222	27	222	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111634600	111634600	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:111634600T>C	ENST00000358835.3	-	29	9013	c.8559A>G	c.(8557-8559)aaA>aaG	p.K2853K	REV3L_ENST00000368805.1_Silent_p.K2853K|REV3L_ENST00000435970.1_Silent_p.K2775K|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Silent_p.K2853K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2853					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.K2853K(1)|p.K2775K(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTCTATTCCTTTTGCATCAA	0.383								DNA polymerases (catalytic subunits)																														uc003puy.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)	6						c.(8557-8559)AAA>AAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							120.0	115.0	117.0					6																	111634600		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111634600T>C	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8559A>G	6.37:g.111634600T>C						REV3L_uc003pux.3_Silent_p.K2775K|REV3L_uc003puz.3_Silent_p.K2775K|REV3L_uc003pva.1_RNA	p.K2853K	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	28	8882	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2853					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.8559A>G	CCDS5091.2																																																																																				PASS	0.383	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		28	203	28	203	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111737632	111737632	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:111737632G>C	ENST00000358835.3	-	3	637	c.183C>G	c.(181-183)ctC>ctG	p.L61L	REV3L_ENST00000368805.1_Silent_p.L61L|REV3L_ENST00000435970.1_5'UTR|REV3L_ENST00000368802.3_Silent_p.L61L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	61					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.L61L(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATGGCACATAGAGGTAAGGAA	0.388								DNA polymerases (catalytic subunits)																														uc003puy.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(181-183)CTC>CTG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							86.0	81.0	83.0					6																	111737632		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111737632G>C	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.183C>G	6.37:g.111737632G>C						REV3L_uc003pux.3_5'UTR|REV3L_uc003puz.3_5'UTR	p.L61L	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	2	506	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	61					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.183C>G	CCDS5091.2																																																																																				PASS	0.388	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		21	65	21	65	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112439049	112439049	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:112439049C>A	ENST00000230538.7	-	35	5271	c.4874G>T	c.(4873-4875)gGg>gTg	p.G1625V	LAMA4_ENST00000389463.4_Missense_Mutation_p.G1618V|LAMA4_ENST00000424408.2_Missense_Mutation_p.G1618V|LAMA4_ENST00000522006.1_Missense_Mutation_p.G1618V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1625	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.G1618V(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GATGGAGGCCCCATTGAGCTG	0.438																																						uc003pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(4873-4875)GGG>GTG		laminin, alpha 4 isoform 1 precursor							104.0	100.0	101.0					6																	112439049		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112439049C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4874G>T	6.37:g.112439049C>A	ENSP00000230538:p.Gly1625Val					LAMA4_uc003pvv.2_Missense_Mutation_p.G1618V|LAMA4_uc003pvt.2_Missense_Mutation_p.G1618V	p.G1625V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	35	5183	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1625			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4874G>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250639	0.80135	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.053424	0.64402	D	0.000001	T	0.47525	0.1450	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52852	-0.8520	10	0.66056	D	0.02	.	19.6091	0.95594	0.0:1.0:0.0:0.0	.	1625;1618	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1625;1618;1618;1618	ENSP00000230538:G1625V;ENSP00000429488:G1618V;ENSP00000374114:G1618V;ENSP00000416470:G1618V	ENSP00000230538:G1625V	G	-	2	0	LAMA4	112545742	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.281000	0.65609	2.650000	0.89964	0.655000	0.94253	GGG		PASS	0.438	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		45	112	45	112	---	---	---	---
DSE	29940	broad.mit.edu	37	6	116747819	116747819	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:116747819A>C	ENST00000331677.3	+	4	943	c.499A>C	c.(499-501)Aac>Cac	p.N167H	DSE_ENST00000537543.1_Missense_Mutation_p.N186H|DSE_ENST00000606265.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.N167H|DSE_ENST00000359564.2_Missense_Mutation_p.N167H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	167					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.N167H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CTTCTTGTACAACTACCTGAG	0.443																																						uc003pws.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(499-501)AAC>CAC		dermatan sulfate epimerase precursor							107.0	97.0	101.0					6																	116747819		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116747819A>C	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.499A>C	6.37:g.116747819A>C	ENSP00000332151:p.Asn167His					DSE_uc011ebf.1_Missense_Mutation_p.N167H|DSE_uc011ebg.1_Missense_Mutation_p.N186H|DSE_uc003pwt.2_Missense_Mutation_p.N167H	p.N167H	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	3	693	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	167					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.499A>C	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.215512	0.58452	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	6.06	4.91	0.64330	.	0.239639	0.50627	D	0.000109	T	0.12475	0.0303	L	0.38175	1.15	0.40840	D	0.983668	B;B	0.31351	0.32;0.115	B;B	0.34138	0.176;0.176	T	0.04825	-1.0924	10	0.56958	D	0.05	-14.6458	11.6578	0.51328	0.9315:0.0:0.0684:0.0	.	186;167	B7Z765;Q9UL01	.;DSE_HUMAN	H	167;186;167;167	ENSP00000404049:N167H;ENSP00000441152:N186H;ENSP00000332151:N167H;ENSP00000352567:N167H	ENSP00000332151:N167H	N	+	1	0	DSE	116854512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.566000	0.53805	2.324000	0.78689	0.533000	0.62120	AAC		PASS	0.443	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		29	170	29	170	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118635325	118635325	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:118635325C>G	ENST00000360388.4	+	8	1338	c.1137C>G	c.(1135-1137)gaC>gaG	p.D379E		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	379					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.D379E(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)		CTGTTGTGGACTTACCGACCA	0.592																																						uc003pxx.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1135-1137)GAC>GAG		solute carrier family 35, member F1							142.0	123.0	130.0					6																	118635325		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118635325C>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.1137C>G	6.37:g.118635325C>G	ENSP00000353557:p.Asp379Glu					SLC35F1_uc003pxy.1_Missense_Mutation_p.D184E	p.D379E	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1338	+			379					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.1137C>G	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	C	8.761	0.923527	0.18056	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.56	4.69	0.59074	.	0.051080	0.85682	D	0.000000	T	0.11239	0.0274	N	0.03115	-0.41	0.42892	D	0.994202	B	0.10296	0.003	B	0.09377	0.004	T	0.14062	-1.0486	9	0.15499	T	0.54	.	9.238	0.37477	0.1447:0.7821:0.0:0.0732	.	379	Q5T1Q4	S35F1_HUMAN	E	379	.	ENSP00000353557:D379E	D	+	3	2	SLC35F1	118742018	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	3.651000	0.54431	1.347000	0.45714	0.655000	0.94253	GAC		PASS	0.592	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		42	183	42	183	---	---	---	---
NCOA7	135112	broad.mit.edu	37	6	126176272	126176272	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:126176272G>C	ENST00000368357.3	+	4	509	c.157G>C	c.(157-159)Gac>Cac	p.D53H	NCOA7_ENST00000487635.1_3'UTR|NCOA7_ENST00000392477.2_Missense_Mutation_p.D53H|NCOA7_ENST00000229634.9_Intron	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	53					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.D53H(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TTTAGAGCCAGACAAGTGCAA	0.378																																						uc010kes.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(157-159)GAC>CAC		nuclear receptor coactivator 7 isoform 1							187.0	203.0	197.0					6																	126176272		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126176272G>C	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.157G>C	6.37:g.126176272G>C	ENSP00000357341:p.Asp53His					NCOA7_uc003qae.3_Missense_Mutation_p.D53H|NCOA7_uc003qah.2_Missense_Mutation_p.D53H|NCOA7_uc003qai.2_Missense_Mutation_p.D53H|NCOA7_uc010ket.2_Intron|NCOA7_uc003qaf.2_Missense_Mutation_p.D53H|NCOA7_uc003qag.2_Missense_Mutation_p.D53H|NCOA7_uc003qaj.2_Missense_Mutation_p.D53H	p.D53H	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	5	606	+			53					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.157G>C	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593324	0.66219	.	.	ENSG00000111912	ENST00000368357;ENST00000431092;ENST00000392477;ENST00000453302;ENST00000417494;ENST00000428318;ENST00000419660	T;T;T;T	0.58940	2.29;2.29;0.3;0.45	5.39	5.39	0.77823	.	0.182796	0.37955	N	0.001871	T	0.55321	0.1913	L	0.27053	0.805	0.80722	D	1	D;D;P;D	0.62365	0.977;0.991;0.915;0.97	P;P;P;P	0.60345	0.823;0.873;0.647;0.62	T	0.60141	-0.7321	10	0.72032	D	0.01	-30.4561	17.5251	0.87798	0.0:0.0:1.0:0.0	.	53;53;53;53	Q8NI08-6;Q8NI08-2;Q8NI08-4;Q8NI08	.;.;.;NCOA7_HUMAN	H	53	ENSP00000357341:D53H;ENSP00000376269:D53H;ENSP00000406363:D53H;ENSP00000408211:D53H	ENSP00000357341:D53H	D	+	1	0	NCOA7	126217965	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	5.806000	0.69150	2.810000	0.96702	0.650000	0.86243	GAC		PASS	0.378	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		28	292	28	292	---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128304106	128304106	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:128304106T>C	ENST00000368215.3	-	24	3403	c.3404A>G	c.(3403-3405)cAt>cGt	p.H1135R	PTPRK_ENST00000368207.3_Missense_Mutation_p.H1168R|PTPRK_ENST00000368213.5_Missense_Mutation_p.H1142R|PTPRK_ENST00000368210.3_Missense_Mutation_p.H1154R|PTPRK_ENST00000368226.4_Missense_Mutation_p.H1136R|PTPRK_ENST00000368227.3_Missense_Mutation_p.H1153R|PTPRK_ENST00000532331.1_Missense_Mutation_p.H1158R			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1135	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H1136R(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AATGGCATCATGAATAAAAAT	0.318																																						uc003qbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(3403-3405)CAT>CGT		protein tyrosine phosphatase, receptor type, K							79.0	84.0	82.0					6																	128304106		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128304106T>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3404A>G	6.37:g.128304106T>C	ENSP00000357198:p.His1135Arg					PTPRK_uc003qbj.2_Missense_Mutation_p.H1136R|PTPRK_uc010kfc.2_Missense_Mutation_p.H1142R|PTPRK_uc011ebu.1_Missense_Mutation_p.H1158R	p.H1135R	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	24	3771	-			1135			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3404A>G		.	.	.	.	.	.	.	.	.	.	T	23.1	4.378480	0.82682	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	H	0.98542	4.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.82099	-0.0625	10	0.87932	D	0	.	16.0943	0.81110	0.0:0.0:0.0:1.0	.	1158;1142;1135;1136	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	R	1136;1153;1158;1142;1154;1135;1168	ENSP00000357209:H1136R;ENSP00000357210:H1153R;ENSP00000432973:H1158R;ENSP00000357196:H1142R;ENSP00000357193:H1154R;ENSP00000357198:H1135R;ENSP00000357190:H1168R	ENSP00000357190:H1168R	H	-	2	0	PTPRK	128345799	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.205000	0.71048	0.477000	0.44152	CAT		PASS	0.318	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			52	112	52	112	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129691052	129691052	+	Nonsense_Mutation	SNP	C	C	T	rs369776766		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:129691052C>T	ENST00000421865.2	+	34	4925	c.4876C>T	c.(4876-4878)Cag>Tag	p.Q1626*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1626	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.Q1626*(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTGTCACCTCAGCGGGCCCC	0.443																																						uc003qbn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(4876-4878)CAG>TAG		laminin alpha 2 subunit isoform a precursor		C	stop/GLN,stop/GLN	2,4404	4.2+/-10.8	0,2,2201	77.0	82.0	80.0		4876,4876	6.1	1.0	6		80	0,8600		0,0,4300	no	stop-gained,stop-gained	LAMA2	NM_000426.3,NM_001079823.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	1626/3123,1626/3119	129691052	2,13004	2203	4300	6503	SO:0001587	stop_gained	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129691052C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4876C>T	6.37:g.129691052C>T	ENSP00000400365:p.Gln1626*					LAMA2_uc003qbo.2_Nonsense_Mutation_p.Q1626*	p.Q1626*	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	34	4981	+			1626			Domain II and I.		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	c.4876C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	44	11.070915	0.99511	4.54E-4	0.0	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	6.08	6.08	0.98989	.	0.058941	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	X	1626	.	ENSP00000346769:Q1626X	Q	+	1	0	LAMA2	129732745	1.000000	0.71417	0.957000	0.39632	0.366000	0.29705	6.801000	0.75170	2.894000	0.99253	0.655000	0.94253	CAG		PASS	0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			5	138	5	138	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130372465	130372465	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:130372465G>A	ENST00000529410.1	+	8	840	c.361G>A	c.(361-363)Gag>Aag	p.E121K	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.E121K|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.E96K|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.E96K|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.E96K|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.E121K			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	121					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E121K(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCAGTTCTGTGAGAACTGTTG	0.418																																						uc003qbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(361-363)GAG>AAG		l(3)mbt-like 3 isoform a							162.0	152.0	155.0					6																	130372465		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130372465G>A	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.361G>A	6.37:g.130372465G>A	ENSP00000431962:p.Glu121Lys					L3MBTL3_uc003qbu.2_Missense_Mutation_p.E96K	p.E121K	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	6	531	+			121					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.361G>A	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958546	0.74016	.	.	ENSG00000198945	ENST00000529410;ENST00000526087;ENST00000533560;ENST00000361794;ENST00000528385;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T;T	0.47528	2.44;2.45;2.44;0.84;2.45;2.45;2.44	4.99	4.99	0.66335	.	0.350258	0.29212	N	0.012804	T	0.49081	0.1536	L	0.52364	1.645	0.44282	D	0.99714	D;P	0.71674	0.998;0.863	D;B	0.63488	0.915;0.316	T	0.35325	-0.9793	10	0.21014	T	0.42	.	16.0344	0.80612	0.0:0.0:1.0:0.0	.	96;121	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	K	121;156;96;121;121;96;96;121	ENSP00000431962:E121K;ENSP00000437185:E96K;ENSP00000354526:E121K;ENSP00000433257:E121K;ENSP00000357121:E96K;ENSP00000436706:E96K;ENSP00000357118:E121K	ENSP00000354526:E121K	E	+	1	0	L3MBTL3	130414158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.205000	0.72148	2.312000	0.78011	0.455000	0.32223	GAG		PASS	0.418	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		5	202	5	202	---	---	---	---
TAAR1	134864	broad.mit.edu	37	6	132967047	132967047	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:132967047G>C	ENST00000275216.1	-	1	95	c.96C>G	c.(94-96)ctC>ctG	p.L32L		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	32					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.L32L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TCAGAATTATGAGCACCATTA	0.383																																						uc003qdm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(94-96)CTC>CTG		trace amine associated receptor 1	Amphetamine(DB00182)						177.0	174.0	175.0					6																	132967047		2203	4300	6503	SO:0001819	synonymous_variant	134864					plasma membrane		g.chr6:132967047G>C	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.96C>G	6.37:g.132967047G>C							p.L32L	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	96	-	Breast(56;0.135)		32			Helical; Name=1; (Potential).		Q2M1W5|Q3MIH8|Q5VUQ1	Silent	SNP	ENST00000275216.1	37	c.96C>G	CCDS5158.1																																																																																				PASS	0.383	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		71	365	71	365	---	---	---	---
SGK1	6446	broad.mit.edu	37	6	134495197	134495197	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:134495197C>G	ENST00000237305.7	-	3	262	c.174G>C	c.(172-174)ttG>ttC	p.L58F	SGK1_ENST00000528577.1_Missense_Mutation_p.L86F|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000367858.5_Missense_Mutation_p.L153F|SGK1_ENST00000475719.2_Missense_Mutation_p.L58F|SGK1_ENST00000413996.3_Missense_Mutation_p.L72F|SGK1_ENST00000367857.5_Missense_Mutation_p.L48F	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	58	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.L86F(1)|p.L153F(1)|p.L48F(1)|p.L58F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGGAGATCTTCAAGATGGACT	0.498																																						uc003qen.3																			4	Substitution - Missense(4)		lung(4)	skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6						c.(172-174)TTG>TTC		serum/glucocorticoid regulated kinase 1 isoform							136.0	128.0	130.0					6																	134495197		2203	4300	6503	SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134495197C>G	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.174G>C	6.37:g.134495197C>G	ENSP00000237305:p.Leu58Phe					SGK1_uc003qeo.3_Missense_Mutation_p.L153F|SGK1_uc011ect.1_Missense_Mutation_p.L48F|SGK1_uc011ecu.1_Missense_Mutation_p.L58F|SGK1_uc011ecv.1_Missense_Mutation_p.L72F|SGK1_uc011ecw.1_Missense_Mutation_p.L86F	p.L58F	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	3	263	-	Colorectal(23;0.221)		58			Necessary for localization to the cytoplasm.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	c.174G>C	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705812	0.68615	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T;T	0.65916	0.53;0.53;0.53;0.53;0.53;0.53;-0.18	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.75057	0.3798	M	0.64997	1.995	0.80722	D	1	P;D;B;P;B;B	0.89917	0.529;1.0;0.394;0.529;0.315;0.394	B;D;B;B;B;B	0.85130	0.331;0.997;0.177;0.22;0.203;0.177	T	0.73148	-0.4074	10	0.52906	T	0.07	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	86;72;58;48;153;58	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	F	153;72;58;48;86;58;122	ENSP00000356832:L153F;ENSP00000396242:L72F;ENSP00000237305:L58F;ENSP00000356831:L48F;ENSP00000434450:L86F;ENSP00000434302:L58F;ENSP00000435577:L122F	ENSP00000237305:L58F	L	-	3	2	SGK1	134536890	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.525000	0.60559	2.840000	0.97914	0.655000	0.94253	TTG		PASS	0.498	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			31	155	31	155	---	---	---	---
PDE7B	27115	broad.mit.edu	37	6	136512787	136512787	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:136512787G>T	ENST00000308191.6	+	13	1465	c.1162G>T	c.(1162-1164)Gaa>Taa	p.E388*	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	388	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.E388*(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GCTCTTCCGGGAATGGGCCCA	0.587																																						uc003qgp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1162-1164)GAA>TAA		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						56.0	46.0	50.0					6																	136512787		2203	4300	6503	SO:0001587	stop_gained	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136512787G>T	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1162G>T	6.37:g.136512787G>T	ENSP00000310661:p.Glu388*					uc003qgq.1_Intron|PDE7B_uc003qgr.2_Nonsense_Mutation_p.E440*	p.E388*	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	13	1465	+	Colorectal(23;0.24)		388			Catalytic (By similarity).		Q5W154	Nonsense_Mutation	SNP	ENST00000308191.6	37	c.1162G>T	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	G	38	6.803088	0.97849	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	.	.	.	5.17	4.28	0.50868	.	0.050060	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	10.3589	0.43980	0.146:0.0:0.854:0.0	.	.	.	.	X	388;524	.	ENSP00000310661:E388X	E	+	1	0	PDE7B	136554480	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.098000	0.64548	2.569000	0.86673	0.655000	0.94253	GAA		PASS	0.587	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			5	36	5	36	---	---	---	---
MAP3K5	4217	broad.mit.edu	37	6	136904834	136904834	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:136904834G>C	ENST00000359015.4	-	24	3630	c.3270C>G	c.(3268-3270)ctC>ctG	p.L1090L	MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Silent_p.L337L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1090					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.L1090L(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGCTTGCAATGAGGGTTGTGA	0.448																																						uc003qhc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(3268-3270)CTC>CTG		mitogen-activated protein kinase kinase kinase							209.0	184.0	193.0					6																	136904834		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136904834G>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3270C>G	6.37:g.136904834G>C						MAP3K5_uc011edj.1_Silent_p.L337L|MAP3K5_uc011edk.1_Silent_p.L936L	p.L1090L	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	24	3631	-	Colorectal(23;0.24)		1090					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.3270C>G	CCDS5179.1																																																																																				PASS	0.448	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			29	185	29	185	---	---	---	---
NMBR	4829	broad.mit.edu	37	6	142409670	142409670	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:142409670G>C	ENST00000258042.1	-	1	266	c.126C>G	c.(124-126)atC>atG	p.I42M	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	42					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.I42M(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TCACACAGCGGATCACCAACT	0.607																																						uc003qiu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(1)	4						c.(124-126)ATC>ATG		neuromedin B receptor							67.0	61.0	63.0					6																	142409670		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409670G>C		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.126C>G	6.37:g.142409670G>C	ENSP00000258042:p.Ile42Met						p.I42M	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	267	-	Breast(32;0.155)		42			Helical; Name=1; (Potential).		E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.126C>G	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835503	0.50951	.	.	ENSG00000135577	ENST00000258042	T	0.37915	1.17	5.61	5.61	0.85477	.	0.247105	0.39341	N	0.001399	T	0.31071	0.0785	M	0.62723	1.935	0.51482	D	0.999921	B	0.28933	0.228	B	0.35182	0.197	T	0.12967	-1.0527	10	0.59425	D	0.04	-22.325	16.2698	0.82608	0.0:0.1324:0.8676:0.0	.	42	P28336	NMBR_HUMAN	M	42	ENSP00000258042:I42M	ENSP00000258042:I42M	I	-	3	3	NMBR	142451363	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.531000	0.36018	2.813000	0.96785	0.655000	0.94253	ATC		PASS	0.607	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			11	56	11	56	---	---	---	---
GINM1	116254	broad.mit.edu	37	6	149899972	149899972	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:149899972C>G	ENST00000367419.5	+	4	413	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V	RP1-12G14.6_ENST00000435273.2_RNA	NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	98						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L98V(1)									GAATGAAAATCTTGAAAATTT	0.318																																						uc003qmq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)CTT>GTT		hypothetical protein LOC116254 precursor							51.0	52.0	52.0					6																	149899972		2203	4299	6502	SO:0001583	missense	116254					integral to membrane		g.chr6:149899972C>G	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.292C>G	6.37:g.149899972C>G	ENSP00000356389:p.Leu98Val					C6orf72_uc010kie.1_Translation_Start_Site	p.L98V	NM_138785	NP_620140	Q9NU53	CF072_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)	4	319	+		Ovarian(120;0.0907)	98			Extracellular (Potential).		B2RDY7|E1P5A2	Missense_Mutation	SNP	ENST00000367419.5	37	c.292C>G	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344672	0.41498	.	.	ENSG00000055211	ENST00000367419	.	.	.	5.61	3.52	0.40303	.	0.376501	0.25135	N	0.032871	T	0.35098	0.0920	L	0.55103	1.725	0.34679	D	0.724523	D	0.59767	0.986	P	0.53912	0.737	T	0.37361	-0.9709	8	.	.	.	-7.6826	4.3711	0.11247	0.2171:0.6036:0.0:0.1793	.	98	Q9NU53	CF072_HUMAN	V	98	.	.	L	+	1	0	C6orf72	149941665	0.988000	0.35896	1.000000	0.80357	0.994000	0.84299	0.602000	0.24134	1.330000	0.45394	0.561000	0.74099	CTT		PASS	0.318	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		5	54	5	54	---	---	---	---
GINM1	116254	broad.mit.edu	37	6	149901832	149901832	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:149901832C>G	ENST00000367419.5	+	6	811	c.690C>G	c.(688-690)ctC>ctG	p.L230L		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	230						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L230L(1)									AAACTCCTCTCAGAGCAGAGC	0.388																																						uc003qmq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(688-690)CTC>CTG		hypothetical protein LOC116254 precursor							100.0	90.0	93.0					6																	149901832		2203	4300	6503	SO:0001819	synonymous_variant	116254					integral to membrane		g.chr6:149901832C>G	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.690C>G	6.37:g.149901832C>G						C6orf72_uc010kie.1_Silent_p.L110L	p.L230L	NM_138785	NP_620140	Q9NU53	CF072_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)	6	717	+		Ovarian(120;0.0907)	230			Extracellular (Potential).		B2RDY7|E1P5A2	Silent	SNP	ENST00000367419.5	37	c.690C>G	CCDS5216.1																																																																																				PASS	0.388	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		4	142	4	142	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151917551	151917551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:151917551G>T	ENST00000239374.7	+	9	1648	c.1549G>T	c.(1549-1551)Gag>Tag	p.E517*	CCDC170_ENST00000367290.5_Nonsense_Mutation_p.E517*	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	517								p.E517*(1)									GCTGGAGGAGGAGAAGCAGGC	0.522																																						uc003qol.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1549-1551)GAG>TAG		hypothetical protein LOC80129							64.0	71.0	69.0					6																	151917551		2136	4258	6394	SO:0001587	stop_gained	80129							g.chr6:151917551G>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1549G>T	6.37:g.151917551G>T	ENSP00000239374:p.Glu517*						p.E517*	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	9	1638	+		Ovarian(120;0.126)	517			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Nonsense_Mutation	SNP	ENST00000239374.7	37	c.1549G>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	40	8.117185	0.98662	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	.	.	.	5.63	4.76	0.60689	.	0.058405	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-16.1357	14.288	0.66258	0.0711:0.0:0.9289:0.0	.	.	.	.	X	517	.	ENSP00000239374:E517X	E	+	1	0	C6orf97	151959244	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	8.985000	0.93487	1.371000	0.46172	0.655000	0.94253	GAG		PASS	0.522	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		12	88	12	88	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152532704	152532704	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:152532704A>C	ENST00000367255.5	-	124	23115	c.22514T>G	c.(22513-22515)tTc>tGc	p.F7505C	SYNE1_ENST00000448038.1_Missense_Mutation_p.F7434C|SYNE1_ENST00000423061.1_Missense_Mutation_p.F7434C|SYNE1_ENST00000341594.5_Missense_Mutation_p.F7117C|SYNE1_ENST00000265368.4_Missense_Mutation_p.F7505C|SYNE1_ENST00000356820.4_Missense_Mutation_p.F2029C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7505					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.F7505C(2)|p.F7434C(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGACGACTGAACATCTCGGC	0.333										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(22513-22515)TTC>TGC		spectrin repeat containing, nuclear envelope 1							82.0	80.0	81.0					6																	152532704		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152532704A>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22514T>G	6.37:g.152532704A>C	ENSP00000356224:p.Phe7505Cys	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.F2029C|SYNE1_uc003qos.3_Missense_Mutation_p.F2029C|SYNE1_uc003qot.3_Missense_Mutation_p.F7434C|SYNE1_uc003qou.3_Missense_Mutation_p.F7505C|SYNE1_uc003qor.3_Missense_Mutation_p.F405C	p.F7505C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	124	23116	-		Ovarian(120;0.0955)	7505			Cytoplasmic (Potential).|Spectrin 25.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22514T>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882422	0.72294	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.49720	1.35;0.77;1.35;1.35;1.35;1.35;0.77;0.77	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000005	T	0.58864	0.2152	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.997	T	0.62900	-0.6756	10	0.66056	D	0.02	.	16.1197	0.81342	1.0:0.0:0.0:0.0	.	7505;7505;7434;7434	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	C	7505;151;7434;7505;7434;7117;2029;427	ENSP00000356224:F7505C;ENSP00000356226:F151C;ENSP00000396024:F7434C;ENSP00000265368:F7505C;ENSP00000390975:F7434C;ENSP00000341887:F7117C;ENSP00000349276:F2029C;ENSP00000356220:F427C	ENSP00000265368:F7505C	F	-	2	0	SYNE1	152574397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.220000	0.95180	2.257000	0.74773	0.455000	0.32223	TTC		PASS	0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		25	100	25	100	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152629663	152629663	+	Silent	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:152629663A>G	ENST00000367255.5	-	91	17908	c.17307T>C	c.(17305-17307)agT>agC	p.S5769S	SYNE1_ENST00000448038.1_Silent_p.S5698S|SYNE1_ENST00000423061.1_Silent_p.S5698S|SYNE1_ENST00000341594.5_Silent_p.S5381S|SYNE1_ENST00000265368.4_Silent_p.S5769S|SYNE1_ENST00000356820.4_Silent_p.S293S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5769					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S5769S(2)|p.S5698S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGTATGTTACTGGTGGCAA	0.443										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(17305-17307)AGT>AGC		spectrin repeat containing, nuclear envelope 1							213.0	196.0	202.0					6																	152629663		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152629663A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17307T>C	6.37:g.152629663A>G		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.S293S|SYNE1_uc003qos.3_Silent_p.S293S|SYNE1_uc003qot.3_Silent_p.S5698S|SYNE1_uc003qou.3_Silent_p.S5769S	p.S5769S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	91	17909	-		Ovarian(120;0.0955)	5769			Cytoplasmic (Potential).|Spectrin 19.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.17307T>C	CCDS5236.2																																																																																				PASS	0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		97	209	97	209	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152697611	152697611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:152697611G>A	ENST00000367255.5	-	58	9830	c.9229C>T	c.(9229-9231)Cag>Tag	p.Q3077*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q3084*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q3084*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q3116*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q3077*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3077					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q3077*(2)|p.Q3084*(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACCACTGCTGGAAATCCCTG	0.388										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Nonsense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(9229-9231)CAG>TAG		spectrin repeat containing, nuclear envelope 1							89.0	93.0	92.0					6																	152697611		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152697611G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9229C>T	6.37:g.152697611G>A	ENSP00000356224:p.Gln3077*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.Q3084*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q3077*|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Nonsense_Mutation_p.Q155*|SYNE1_uc010kjb.1_3'UTR	p.Q3077*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	58	9831	-		Ovarian(120;0.0955)	3077			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.9229C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	32	5.172660	0.94807	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.71	5.71	0.89125	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	.	.	.	X	3077;3084;3077;3084;3116	.	ENSP00000265368:Q3077X	Q	-	1	0	SYNE1	152739304	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.397000	0.97276	2.707000	0.92482	0.655000	0.94253	CAG		PASS	0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	116	24	116	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159670162	159670162	+	Missense_Mutation	SNP	C	C	G	rs192870385		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:159670162C>G	ENST00000297267.9	+	16	4982	c.4782C>G	c.(4780-4782)atC>atG	p.I1594M	FNDC1_ENST00000340366.6_Missense_Mutation_p.I1531M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1594					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.I1594M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAGGCGCCATCAGTTCCTTTC	0.448																																						uc010kjv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(4780-4782)ATC>ATG		fibronectin type III domain containing 1							47.0	50.0	49.0					6																	159670162		1951	4140	6091	SO:0001583	missense	84624					extracellular region		g.chr6:159670162C>G	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4782C>G	6.37:g.159670162C>G	ENSP00000297267:p.Ile1594Met						p.I1594M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	16	4982	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1594					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.4782C>G	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.149440|3.149440	0.57151|0.57151	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.08546|.	3.08;3.89|.	5.57|5.57	-0.722|-0.722	0.11184|0.11184	.|.	0.723210|.	0.13460|.	N|.	0.386208|.	T|T	0.24314|0.24314	0.0589|0.0589	L|L	0.54323|0.54323	1.7|1.7	0.23144|0.23144	N|N	0.998221|0.998221	D|.	0.61697|.	0.99|.	P|.	0.56563|.	0.801|.	T|T	0.32508|0.32508	-0.9904|-0.9904	9|5	.|.	.|.	.|.	-9.8586|-9.8586	10.5144|10.5144	0.44881|0.44881	0.0:0.5969:0.0:0.4031|0.0:0.5969:0.0:0.4031	.|.	1594|.	Q4ZHG4|.	FNDC1_HUMAN|.	M|E	1594;1531|1490	ENSP00000297267:I1594M;ENSP00000342460:I1531M|.	.|.	I|Q	+|+	3|1	3|0	FNDC1|FNDC1	159590152|159590152	0.005000|0.005000	0.15991|0.15991	0.870000|0.870000	0.34147|0.34147	0.864000|0.864000	0.49448|0.49448	-0.796000|-0.796000	0.04575|0.04575	-0.220000|-0.220000	0.09988|0.09988	0.650000|0.650000	0.86243|0.86243	ATC|CAG		PASS	0.448	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		5	23	5	23	---	---	---	---
WTAP	9589	broad.mit.edu	37	6	160176217	160176217	+	Silent	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:160176217A>T	ENST00000358372.4	+	8	2522	c.765A>T	c.(763-765)acA>acT	p.T255T	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	255					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.T255T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GCAGGACTACAGCTTCTGAAC	0.552																																						uc003qsl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(763-765)ACA>ACT		Wilms' tumour 1-associating protein isoform 1							54.0	48.0	50.0					6																	160176217		2203	4300	6503	SO:0001819	synonymous_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176217A>T	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.765A>T	6.37:g.160176217A>T						WTAP_uc003qso.2_Silent_p.T136T	p.T255T	NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	987	+		Breast(66;0.000776)|Ovarian(120;0.0303)	255					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	ENST00000358372.4	37	c.765A>T	CCDS5266.1																																																																																				PASS	0.552	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		15	52	15	52	---	---	---	---
ACAT2	39	broad.mit.edu	37	6	160198422	160198422	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:160198422C>G	ENST00000367048.4	+	7	2606	c.846C>G	c.(844-846)tcC>tcG	p.S282S	ACAT2_ENST00000472052.1_3'UTR|SNORA20_ENST00000384662.1_RNA|ACAT2_ENST00000541436.1_Silent_p.S311S	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	282					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)	p.S282S(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGATAGTTTCCTGGTCCCAAG	0.428																																						uc010kjy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(844-846)TCC>TCG		acetyl-Coenzyme A acetyltransferase 2							127.0	113.0	118.0					6																	160198422		2203	4300	6503	SO:0001819	synonymous_variant	39					mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding	g.chr6:160198422C>G	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.846C>G	6.37:g.160198422C>G						ACAT2_uc011efw.1_Silent_p.S311S	p.S282S	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	7	977	+		Breast(66;0.000776)|Ovarian(120;0.0303)	282					B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Silent	SNP	ENST00000367048.4	37	c.846C>G	CCDS5268.1																																																																																				PASS	0.428	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		31	87	31	87	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160468358	160468358	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:160468358C>G	ENST00000356956.1	+	16	2367	c.2219C>G	c.(2218-2220)cCt>cGt	p.P740R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	740					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.P740R(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GTGGGCTTCCCTGAATATCAG	0.512																																						uc003qta.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2218-2220)CCT>CGT		insulin-like growth factor 2 receptor precursor							68.0	66.0	67.0					6																	160468358		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160468358C>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2219C>G	6.37:g.160468358C>G	ENSP00000349437:p.Pro740Arg						p.P740R	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	16	2367	+		Breast(66;0.000777)|Ovarian(120;0.0305)	740			5.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2219C>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057885	0.76074	.	.	ENSG00000197081	ENST00000356956	T	0.03386	3.95	5.6	5.6	0.85130	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.22589	0.0545	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.15435	-1.0437	10	0.87932	D	0	-5.7909	19.9823	0.97331	0.0:1.0:0.0:0.0	.	740	P11717	MPRI_HUMAN	R	740	ENSP00000349437:P740R	ENSP00000349437:P740R	P	+	2	0	IGF2R	160388348	1.000000	0.71417	0.230000	0.23976	0.477000	0.33069	7.419000	0.80179	2.788000	0.95919	0.650000	0.86243	CCT		PASS	0.512	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		7	66	7	66	---	---	---	---
MAP3K4	4216	broad.mit.edu	37	6	161470172	161470172	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:161470172G>C	ENST00000392142.4	+	3	1016	c.868G>C	c.(868-870)Gcc>Ccc	p.A290P	MAP3K4_ENST00000366919.2_Missense_Mutation_p.A290P|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A290P|MAP3K4_ENST00000348824.7_Missense_Mutation_p.A290P	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	290					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.A290P(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGCCCGTCAAGCCATCCCAGA	0.423																																						uc003qtn.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(868-870)GCC>CCC		mitogen-activated protein kinase kinase kinase 4							64.0	68.0	67.0					6																	161470172		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470172G>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.868G>C	6.37:g.161470172G>C	ENSP00000375986:p.Ala290Pro					MAP3K4_uc010kkc.1_Missense_Mutation_p.A290P|MAP3K4_uc003qto.2_Missense_Mutation_p.A290P|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	p.A290P	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1010	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	290					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.868G>C	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308661	0.81247	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.50333	1.59	0.43007	D	0.994536	D;D	0.56035	0.967;0.974	P;P	0.53689	0.732;0.649	T	0.02288	-1.1182	10	0.36615	T	0.2	-30.1403	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	290;290	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	P	290	ENSP00000355886:A290P;ENSP00000375986:A290P;ENSP00000355887:A290P;ENSP00000297332:A290P	ENSP00000297332:A290P	A	+	1	0	MAP3K4	161390162	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.319000	0.72871	2.937000	0.99478	0.650000	0.86243	GCC		PASS	0.423	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			25	146	25	146	---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170639566	170639566	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr6:170639566G>C	ENST00000476287.1	+	4	2053	c.1945G>C	c.(1945-1947)Gag>Cag	p.E649Q	FAM120B_ENST00000537664.1_Missense_Mutation_p.E672Q|FAM120B_ENST00000540480.1_Missense_Mutation_p.E661Q|MIR4644_ENST00000579929.1_RNA|FAM120B_ENST00000252510.9_5'UTR	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	649					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E649Q(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGCTGTCAAGGAGTGGTTTGT	0.542																																						uc003qxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1945-1947)GAG>CAG		family with sequence similarity 120B							157.0	142.0	147.0					6																	170639566		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170639566G>C	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1945G>C	6.37:g.170639566G>C	ENSP00000417970:p.Glu649Gln					FAM120B_uc003qxo.1_Missense_Mutation_p.E649Q|FAM120B_uc011ehd.1_5'UTR	p.E649Q	NM_032448	NP_115824	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	4	2053	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	649					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1945G>C	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305424	0.81247	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.53857	0.6;0.6;0.6	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74740	-0.3563	10	0.87932	D	0	-28.2996	16.0104	0.80399	0.0:0.0:1.0:0.0	.	649;649	Q96EK7;F2Z2E1	F120B_HUMAN;.	Q	661;672;649	ENSP00000444125:E661Q;ENSP00000440125:E672Q;ENSP00000417970:E649Q	ENSP00000436640:E649Q	E	+	1	0	FAM120B	170481491	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.945000	0.70226	2.300000	0.77407	0.655000	0.94253	GAG		PASS	0.542	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		10	101	10	101	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7546791	7546791	+	Splice_Site	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:7546791C>T	ENST00000399429.3	-	10	1069	c.929G>A	c.(928-930)gGa>gAa	p.G310E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	310	Collagen-like 2.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G310E(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCTGGGGATCCCTGTGGAAT	0.408																																						uc003src.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(928-930)GGA>GAA		collagen, type XXVIII precursor							94.0	90.0	91.0					7																	7546791		1806	4075	5881	SO:0001630	splice_region_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7546791C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.928-1G>A	7.37:g.7546791C>T						COL28A1_uc011jxe.1_5'UTR|COL28A1_uc003srd.2_5'UTR	p.G310E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	10	1046	-		Ovarian(82;0.0789)	310			Collagen-like 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.929G>A	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698040	0.68386	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.99353	-5.77	4.32	4.32	0.51571	.	0.000000	0.64402	U	0.000003	D	0.99680	0.9880	H	0.99368	4.535	0.46078	D	0.998859	D	0.89917	1.0	D	0.80764	0.994	D	0.97177	0.9848	10	0.87932	D	0	-6.096	12.6069	0.56529	0.0:1.0:0.0:0.0	.	310	Q2UY09	COSA1_HUMAN	E	310	ENSP00000382356:G310E	ENSP00000382347:G310E	G	-	2	0	COL28A1	7513316	0.993000	0.37304	0.996000	0.52242	0.943000	0.58893	2.145000	0.42207	2.692000	0.91855	0.650000	0.86243	GGA		PASS	0.408	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	Missense_Mutation	43	262	43	262	---	---	---	---
ARL4A	10124	broad.mit.edu	37	7	12728313	12728313	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:12728313C>G	ENST00000396663.1	+	2	916	c.434C>G	c.(433-435)tCa>tGa	p.S145*	ARL4A_ENST00000396662.1_Nonsense_Mutation_p.S145*|ARL4A_ENST00000356797.3_Nonsense_Mutation_p.S145*|ARL4A_ENST00000404894.1_Nonsense_Mutation_p.S145*|ARL4A_ENST00000396664.2_Nonsense_Mutation_p.S145*	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	145					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.S145*(1)		NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		TTGTCACTTTCAGAAATTGAG	0.393																																						uc003ssp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(433-435)TCA>TGA		ADP-ribosylation factor-like 4A							83.0	78.0	80.0					7																	12728313		2203	4300	6503	SO:0001587	stop_gained	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12728313C>G	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.434C>G	7.37:g.12728313C>G	ENSP00000379898:p.Ser145*					ARL4A_uc003ssq.2_Nonsense_Mutation_p.S145*|ARL4A_uc003ssr.2_Nonsense_Mutation_p.S145*|ARL4A_uc003sss.2_Nonsense_Mutation_p.S145*	p.S145*	NM_001037164	NP_001032241	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	711	+			145					A4D119|P80418|Q49AF5	Nonsense_Mutation	SNP	ENST00000396663.1	37	c.434C>G	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745396	0.89663	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	.	.	.	4.67	4.67	0.58626	.	0.331298	0.28093	N	0.016639	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1307	0.89600	0.0:1.0:0.0:0.0	.	.	.	.	X	145	.	ENSP00000349250:S145X	S	+	2	0	ARL4A	12694838	0.010000	0.17322	0.997000	0.53966	0.889000	0.51656	1.816000	0.38992	2.585000	0.87301	0.555000	0.69702	TCA		PASS	0.393	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		56	151	56	151	---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14724925	14724925	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:14724925G>A	ENST00000403951.2	-	10	1193	c.774C>T	c.(772-774)tgC>tgT	p.C258C	DGKB_ENST00000258767.5_Silent_p.C258C|DGKB_ENST00000406247.3_Silent_p.C258C|DGKB_ENST00000399322.3_Silent_p.C258C|DGKB_ENST00000402815.1_Silent_p.C258C|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.C251C|DGKB_ENST00000444700.2_Silent_p.C251C			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	258					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.C258C(1)|p.C258*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GGCAAAGGTTGCAATAGGCAG	0.493																																						uc003ssz.2																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(1)|central_nervous_system(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(772-774)TGC>TGT		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						108.0	110.0	110.0					7																	14724925		2193	4288	6481	SO:0001819	synonymous_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14724925G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.774C>T	7.37:g.14724925G>A						DGKB_uc011jxt.1_Silent_p.C251C|DGKB_uc003sta.2_Silent_p.C258C|DGKB_uc011jxu.1_Silent_p.C258C|DGKB_uc011jxv.1_Silent_p.C258C	p.C258C	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			9	961	-			258			Phorbol-ester/DAG-type 1.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	c.774C>T	CCDS47547.1																																																																																				PASS	0.493	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		7	89	7	89	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20782508	20782508	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:20782508T>A	ENST00000404938.2	+	25	3685	c.3033T>A	c.(3031-3033)tgT>tgA	p.C1011*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.C566*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1011					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.C1011*(1)|p.C566*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGGACACATGTGAAGGGAATT	0.428																																						uc003suw.3																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1696-1698)TGT>TGA		ATP-binding cassette, sub-family B, member 5							92.0	88.0	89.0					7																	20782508		2203	4300	6503	SO:0001587	stop_gained	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20782508T>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3033T>A	7.37:g.20782508T>A	ENSP00000384881:p.Cys1011*					ABCB5_uc010kuh.2_Nonsense_Mutation_p.C1011*	p.C566*	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			16	2244	+			566			Cytoplasmic (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	ENST00000404938.2	37	c.1698T>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	T	42	9.251070	0.99115	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	.	.	.	4.84	-1.6	0.08426	.	0.210269	0.32624	N	0.005850	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	10.4047	0.44249	0.0:0.4782:0.0:0.5218	.	.	.	.	X	1011;566	.	ENSP00000258738:C566X	C	+	3	2	ABCB5	20749033	0.006000	0.16342	0.966000	0.40874	0.907000	0.53573	-0.099000	0.11007	-0.348000	0.08286	-0.911000	0.02809	TGT		PASS	0.428	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		30	73	30	73	---	---	---	---
FAM126A	84668	broad.mit.edu	37	7	23030703	23030703	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:23030703C>G	ENST00000432176.2	-	2	260	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	FAM126A_ENST00000409763.1_Missense_Mutation_p.E10Q|FAM126A_ENST00000409923.1_Missense_Mutation_p.E10Q	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	10					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.E10Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						AACCATTCCTCCACAACCCCT	0.303																																						uc003svm.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(28-30)GAG>CAG		family with sequence similarity 126, member A							113.0	114.0	114.0					7																	23030703		2203	4293	6496	SO:0001583	missense	84668					cytoplasm|membrane	signal transducer activity	g.chr7:23030703C>G	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.28G>C	7.37:g.23030703C>G	ENSP00000403396:p.Glu10Gln					FAM126A_uc003svn.3_Intron|FAM126A_uc011jyr.1_Missense_Mutation_p.E10Q	p.E10Q	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			2	283	-			10					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Missense_Mutation	SNP	ENST00000432176.2	37	c.28G>C	CCDS5377.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959721	0.74016	.	.	ENSG00000122591	ENST00000432176;ENST00000409923;ENST00000409763	T;T;T	0.78364	-1.17;-1.16;-1.11	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	L	0.52759	1.655	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.78425	-0.2209	10	0.15952	T	0.53	-2.9851	19.0305	0.92955	0.0:1.0:0.0:0.0	.	10	Q9BYI3	HYCCI_HUMAN	Q	10	ENSP00000403396:E10Q;ENSP00000386246:E10Q;ENSP00000386624:E10Q	ENSP00000386624:E10Q	E	-	1	0	FAM126A	22997228	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.661000	0.68025	2.861000	0.98227	0.655000	0.94253	GAG		PASS	0.303	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		4	165	4	165	---	---	---	---
HOXA11	3207	broad.mit.edu	37	7	27224326	27224326	+	Silent	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:27224326T>A	ENST00000006015.3	-	1	509	c.438A>T	c.(436-438)acA>acT	p.T146T	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	146					anatomical structure morphogenesis (GO:0009653)|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 limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.T146T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TGCCGTAGGCTGTCTCGAAAA	0.677			T	NUP98	CML																																	uc003syx.2				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(436-438)ACA>ACT		homeobox A11							29.0	33.0	32.0					7																	27224326		2202	4297	6499	SO:0001819	synonymous_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27224326T>A		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.438A>T	7.37:g.27224326T>A						HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	p.T146T	NM_005523	NP_005514	P31270	HXA11_HUMAN			1	510	-			146					A4D190	Silent	SNP	ENST00000006015.3	37	c.438A>T	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.599500	0.28534	.	.	ENSG00000005073	ENST00000517402	.	.	.	5.25	-1.06	0.10002	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27020	-1.0086	4	.	.	.	.	3.3537	0.07162	0.3438:0.4198:0.1017:0.1347	.	.	.	.	L	116	.	.	Q	-	2	0	HOXA11	27190851	0.996000	0.38824	0.998000	0.56505	0.976000	0.68499	0.439000	0.21575	-0.049000	0.13379	-0.177000	0.13119	CAG		PASS	0.677	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			6	59	6	59	---	---	---	---
ZNRF2	223082	broad.mit.edu	37	7	30402003	30402003	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:30402003G>C	ENST00000323037.4	+	4	1733	c.682G>C	c.(682-684)Gaa>Caa	p.E228Q		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	228						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E228Q(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						CTGCATAGATGAATGGTTTGA	0.303																																						uc003tat.2																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)GAA>CAA		zinc finger/RING finger 2							88.0	90.0	89.0					7																	30402003		2203	4300	6503	SO:0001583	missense	223082					cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	g.chr7:30402003G>C	AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"""RING-type (C3HC4) zinc fingers"""	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.682G>C	7.37:g.30402003G>C	ENSP00000323879:p.Glu228Gln						p.E228Q	NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN			4	1733	+			228			RING-type; atypical.			Missense_Mutation	SNP	ENST00000323037.4	37	c.682G>C	CCDS5426.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757859	0.31137	.	.	ENSG00000180233	ENST00000323037;ENST00000319243	T	0.42900	0.96	4.94	4.94	0.65067	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.272388	0.28332	U	0.015734	T	0.26702	0.0653	N	0.10809	0.05	0.29711	N	0.839433	B	0.30236	0.274	B	0.34346	0.18	T	0.07790	-1.0754	10	0.09338	T	0.73	-8.1082	17.1405	0.86752	0.0:0.0:1.0:0.0	.	228	Q8NHG8	ZNRF2_HUMAN	Q	228;166	ENSP00000323879:E228Q	ENSP00000326497:E166Q	E	+	1	0	ZNRF2	30368528	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.460000	0.45031	2.285000	0.76669	0.460000	0.39030	GAA		PASS	0.303	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214992.1	NM_147128		18	119	18	119	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014871	33014871	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:33014871C>G	ENST00000242209.4	+	3	614	c.445C>G	c.(445-447)Cag>Gag	p.Q149E	FKBP9_ENST00000538443.1_Missense_Mutation_p.Q11E|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.Q202E	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	149					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.Q149E(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			AGACCAGGTTCAGATTCACAC	0.463																																						uc003tdh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(13)|ovary(1)	14						c.(445-447)CAG>GAG		FK506 binding protein 9 precursor							116.0	107.0	110.0					7																	33014871		2203	4300	6503	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014871C>G	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.445C>G	7.37:g.33014871C>G	ENSP00000242209:p.Gln149Glu					AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.Q202E|FKBP9_uc003tdg.2_Missense_Mutation_p.Q149E|FKBP9_uc010kwm.2_Missense_Mutation_p.Q56E	p.Q149E	NM_007270	NP_009201	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	626	+			149					B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.445C>G	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662207	0.47572	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443	T;T;T	0.56444	0.46;0.46;0.46	5.32	4.42	0.53409	.	0.062940	0.64402	D	0.000003	T	0.50514	0.1620	L	0.49126	1.545	0.80722	D	1	B;B;B	0.30870	0.298;0.032;0.133	B;B;B	0.36845	0.234;0.035;0.077	T	0.42498	-0.9448	10	0.21014	T	0.42	-3.1609	15.8238	0.78683	0.0:0.8636:0.1364:0.0	.	202;149;149	B7Z6H3;O95302;B3KQQ0	.;FKBP9_HUMAN;.	E	149;202;11	ENSP00000242209:Q149E;ENSP00000439250:Q202E;ENSP00000437504:Q11E	ENSP00000242209:Q149E	Q	+	1	0	FKBP9	32981396	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.736000	0.62059	1.224000	0.43551	0.644000	0.83932	CAG		PASS	0.463	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		32	182	32	182	---	---	---	---
PGAM2	5224	broad.mit.edu	37	7	44102386	44102386	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:44102386C>T	ENST00000297283.3	-	3	796	c.739G>A	c.(739-741)Gct>Act	p.A247T	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	247					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)	p.A247T(1)		large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CCCTGGGCAGCCACAGCCTCC	0.617																																						uc003tjs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)GCT>ACT		phosphoglycerate mutase 2							101.0	73.0	82.0					7																	44102386		2203	4300	6503	SO:0001583	missense	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44102386C>T		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.739G>A	7.37:g.44102386C>T	ENSP00000297283:p.Ala247Thr						p.A247T	NM_000290	NP_000281	P15259	PGAM2_HUMAN			3	774	-			247						Missense_Mutation	SNP	ENST00000297283.3	37	c.739G>A	CCDS34624.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979865	0.92982	.	.	ENSG00000164708	ENST00000297283	D	0.81579	-1.51	5.06	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.91408	0.7289	H	0.98068	4.14	0.80722	D	1	D	0.65815	0.995	P	0.54924	0.764	D	0.94073	0.7337	10	0.87932	D	0	-16.3632	13.8233	0.63336	0.0:0.8456:0.1544:0.0	.	247	P15259	PGAM2_HUMAN	T	247	ENSP00000297283:A247T	ENSP00000297283:A247T	A	-	1	0	PGAM2	44068911	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.966000	0.70395	1.269000	0.44280	0.456000	0.33151	GCT		PASS	0.617	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			18	51	18	51	---	---	---	---
GCK	2645	broad.mit.edu	37	7	44186117	44186117	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:44186117C>T	ENST00000403799.3	-	8	1433	c.964G>A	c.(964-966)Gag>Aag	p.E322K	GCK_ENST00000345378.2_Missense_Mutation_p.E323K|GCK_ENST00000395796.3_Missense_Mutation_p.E321K|GCK_ENST00000437084.1_Missense_Mutation_p.E305K	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	322	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.E322K(1)|p.E323K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGCAGCTGCTCGGAGGCCTCC	0.647																																						uc003tkl.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|lung(1)	4						c.(964-966)GAG>AAG		glucokinase isoform 1							71.0	65.0	67.0					7																	44186117		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44186117C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.964G>A	7.37:g.44186117C>T	ENSP00000384247:p.Glu322Lys					GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Missense_Mutation_p.E321K|GCK_uc003tkk.1_Missense_Mutation_p.E323K	p.E322K	NM_000162	NP_000153	P35557	HXK4_HUMAN			8	1434	-			322					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.964G>A	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655395	0.47467	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73	4.77	3.89	0.44902	Hexokinase, C-terminal (1);	0.050397	0.85682	D	0.000000	D	0.95620	0.8576	M	0.64404	1.975	0.53005	D	0.999969	B;B;B	0.33919	0.432;0.023;0.144	B;B;B	0.27715	0.082;0.014;0.03	D	0.94061	0.7326	10	0.52906	T	0.07	-25.1937	12.628	0.56640	0.0:0.9179:0.0:0.0821	.	322;323;321	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	K	322;321;323;305	ENSP00000384247:E322K;ENSP00000379142:E321K;ENSP00000223366:E323K;ENSP00000402840:E305K	ENSP00000223366:E323K	E	-	1	0	GCK	44152642	1.000000	0.71417	0.893000	0.35052	0.010000	0.07245	5.961000	0.70356	1.003000	0.39130	0.591000	0.81541	GAG		PASS	0.647	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			11	107	11	107	---	---	---	---
TMED4	222068	broad.mit.edu	37	7	44621733	44621733	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:44621733T>C	ENST00000457408.2	-	1	125	c.73A>G	c.(73-75)Aca>Gca	p.T25A	TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Missense_Mutation_p.T25A|TMED4_ENST00000289577.5_Missense_Mutation_p.T25A	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	25					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.T25A(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TGGGCGCCTGTGGCGCACAGC	0.687																																						uc003tli.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)ACA>GCA		transmembrane emp24 protein transport domain							16.0	14.0	15.0					7																	44621733		2159	4213	6372	SO:0001583	missense	222068				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity	g.chr7:44621733T>C	BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.73A>G	7.37:g.44621733T>C	ENSP00000404042:p.Thr25Ala					TMED4_uc003tlj.2_5'UTR|TMED4_uc003tlk.2_Missense_Mutation_p.T25A|uc003tll.2_5'Flank	p.T25A	NM_182547	NP_872353	Q7Z7H5	TMED4_HUMAN			1	95	-			25					A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Missense_Mutation	SNP	ENST00000457408.2	37	c.73A>G	CCDS5493.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.577347	0.00887	.	.	ENSG00000158604	ENST00000457408;ENST00000289577;ENST00000419520;ENST00000481238	T;T;T	0.40476	2.33;1.03;1.56	5.05	0.786	0.18590	.	0.869149	0.10102	N	0.715791	T	0.12774	0.0310	N	0.01424	-0.875	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31392	-0.9945	10	0.07030	T	0.85	-8.8202	4.6551	0.12613	0.1437:0.3476:0.422:0.0867	.	25;25	Q7Z7H5-3;Q7Z7H5	.;TMED4_HUMAN	A	25	ENSP00000404042:T25A;ENSP00000289577:T25A;ENSP00000417443:T25A	ENSP00000289577:T25A	T	-	1	0	TMED4	44588258	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.598000	0.05706	0.123000	0.18342	-0.464000	0.05259	ACA		PASS	0.687	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251290.1	NM_182547		3	1	3	1	---	---	---	---
TMEM248	55069	broad.mit.edu	37	7	66416110	66416110	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:66416110G>A	ENST00000341567.4	+	5	1023	c.768G>A	c.(766-768)gtG>gtA	p.V256V		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	256						integral component of membrane (GO:0016021)		p.V256V(1)									AGCTTACAGTGATTGTTCCAG	0.453																																						uc003tvk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(766-768)GTG>GTA		hypothetical protein LOC55069							79.0	74.0	75.0					7																	66416110		2203	4300	6503	SO:0001819	synonymous_variant	55069					integral to membrane		g.chr7:66416110G>A		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.768G>A	7.37:g.66416110G>A						C7orf42_uc010lah.2_Intron|C7orf42_uc003tvl.2_Silent_p.V256V	p.V256V	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN			5	1032	+			256			Helical; (Potential).		Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.768G>A	CCDS5536.1																																																																																				PASS	0.453	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		25	129	25	129	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70885909	70885909	+	Silent	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:70885909A>T	ENST00000333538.5	+	5	1414	c.780A>T	c.(778-780)ctA>ctT	p.L260L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	260	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L260L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGCCGGTTCTATCCCGCATCC	0.522																																						uc003tvy.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(778-780)CTA>CTT		UDP-GalNAc:polypeptide							185.0	174.0	177.0					7																	70885909		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70885909A>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.780A>T	7.37:g.70885909A>T						WBSCR17_uc003tvz.2_5'UTR	p.L260L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			5	780	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	260			Catalytic subdomain A.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.780A>T	CCDS5540.1																																																																																				PASS	0.522	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		125	310	125	310	---	---	---	---
DNAJC30	84277	broad.mit.edu	37	7	73097249	73097249	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:73097249G>C	ENST00000395176.2	-	1	534	c.505C>G	c.(505-507)Cag>Gag	p.Q169E	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000265758.2_5'Flank	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	169						mitochondrion (GO:0005739)		p.Q169E(1)		kidney(1)|large_intestine(2)|lung(1)	4						TAGTGGGCCTGGTAGAAGGCG	0.692																																						uc003tys.1																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)CAG>GAG		DnaJ (Hsp40) homolog subfamily C member 30							30.0	31.0	31.0					7																	73097249		2203	4300	6503	SO:0001583	missense	84277				protein folding		heat shock protein binding|unfolded protein binding	g.chr7:73097249G>C	AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"""Heat shock proteins / DNAJ (HSP40)"""	16410	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 18"""	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.505C>G	7.37:g.73097249G>C	ENSP00000378605:p.Gln169Glu					WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	p.Q169E	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN			1	533	-			169					Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	37	c.505C>G	CCDS5556.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078916	0.76528	.	.	ENSG00000176410	ENST00000395176	T	0.52754	0.65	5.2	5.2	0.72013	.	0.476548	0.20712	N	0.087061	T	0.49081	0.1536	M	0.75447	2.3	0.34330	D	0.687581	B	0.34015	0.435	B	0.30401	0.115	T	0.62034	-0.6939	10	0.34782	T	0.22	.	16.2713	0.82622	0.0:0.0:1.0:0.0	.	169	Q96LL9	DJC30_HUMAN	E	169	ENSP00000378605:Q169E	ENSP00000378605:Q169E	Q	-	1	0	DNAJC30	72735185	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.165000	0.71891	2.708000	0.92522	0.555000	0.69702	CAG		PASS	0.692	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2			14	82	14	82	---	---	---	---
TMEM60	85025	broad.mit.edu	37	7	77423415	77423415	+	Silent	SNP	G	G	C	rs145350174		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:77423415G>C	ENST00000257663.3	-	2	652	c.276C>G	c.(274-276)ctC>ctG	p.L92L		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	92						integral component of membrane (GO:0016021)		p.L92L(1)		endometrium(1)|large_intestine(1)|lung(2)	4						CACAGAGTGCGAGGCAGAAGG	0.438																																						uc003ugn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)CTC>CTG		transmembrane protein 60							152.0	147.0	149.0					7																	77423415		2203	4300	6503	SO:0001819	synonymous_variant	85025					integral to membrane		g.chr7:77423415G>C	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.276C>G	7.37:g.77423415G>C							p.L92L	NM_032936	NP_116325	Q9H2L4	TMM60_HUMAN			2	503	-			92			Helical; (Potential).		A4D1C3|Q86UM0	Silent	SNP	ENST00000257663.3	37	c.276C>G	CCDS5593.1																																																																																				PASS	0.438	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		29	236	29	236	---	---	---	---
TMEM60	85025	broad.mit.edu	37	7	77423646	77423646	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:77423646G>C	ENST00000257663.3	-	2	421	c.45C>G	c.(43-45)ttC>ttG	p.F15L		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	15						integral component of membrane (GO:0016021)		p.F15L(1)		endometrium(1)|large_intestine(1)|lung(2)	4						AGAGTAGTGTGAAAAGCCAGG	0.403																																						uc003ugn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)TTC>TTG		transmembrane protein 60							72.0	72.0	72.0					7																	77423646		2203	4300	6503	SO:0001583	missense	85025					integral to membrane		g.chr7:77423646G>C	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.45C>G	7.37:g.77423646G>C	ENSP00000257663:p.Phe15Leu						p.F15L	NM_032936	NP_116325	Q9H2L4	TMM60_HUMAN			2	272	-			15			Helical; (Potential).		A4D1C3|Q86UM0	Missense_Mutation	SNP	ENST00000257663.3	37	c.45C>G	CCDS5593.1	.	.	.	.	.	.	.	.	.	.	G	9.549	1.115537	0.20795	.	.	ENSG00000135211	ENST00000257663	T	0.32023	1.47	6.07	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	L	0.46157	1.445	0.39606	D	0.969801	P	0.46395	0.877	P	0.48488	0.579	T	0.08207	-1.0733	10	0.02654	T	1	-14.9211	10.2503	0.43364	0.1812:0.0:0.8188:0.0	.	15	Q9H2L4	TMM60_HUMAN	L	15	ENSP00000257663:F15L	ENSP00000257663:F15L	F	-	3	2	TMEM60	77261582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.060000	0.49955	2.885000	0.99019	0.655000	0.94253	TTC		PASS	0.403	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		5	116	5	116	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	78636448	78636448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:78636448G>A	ENST00000354212.4	-	2	629	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	MAGI2_ENST00000419488.1_Nonsense_Mutation_p.Q126*|MAGI2_ENST00000522391.1_Nonsense_Mutation_p.Q126*|MAGI2-AS2_ENST00000411616.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	126	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.Q126*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGATTTGCTGAAGCTCATGG	0.373																																						uc003ugx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(376-378)CAG>TAG		membrane associated guanylate kinase, WW and PDZ							157.0	137.0	144.0					7																	78636448		2203	4300	6503	SO:0001587	stop_gained	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78636448G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.376C>T	7.37:g.78636448G>A	ENSP00000346151:p.Gln126*					MAGI2_uc003ugy.2_Nonsense_Mutation_p.Q126*	p.Q126*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			2	630	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	126			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Nonsense_Mutation	SNP	ENST00000354212.4	37	c.376C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	40	8.220938	0.98712	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9199	0.88963	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000346151:Q126X	Q	-	1	0	MAGI2	78474384	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.692000	0.98682	2.470000	0.83445	0.637000	0.83480	CAG		PASS	0.373	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		23	215	23	215	---	---	---	---
SEMA3C	10512	broad.mit.edu	37	7	80378224	80378224	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:80378224C>A	ENST00000265361.3	-	17	2393	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	SEMA3C_ENST00000544525.1_Missense_Mutation_p.R629M|SEMA3C_ENST00000419255.2_Missense_Mutation_p.R611M	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	611	Ig-like C2-type.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R611M(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTCTTTCCTCCTGTCTTTGTC	0.458																																						uc003uhj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1831-1833)AGG>ATG		semaphorin 3C precursor							186.0	166.0	173.0					7																	80378224		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80378224C>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1832G>T	7.37:g.80378224C>A	ENSP00000265361:p.Arg611Met					SEMA3C_uc011kgw.1_Missense_Mutation_p.R629M	p.R611M	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			17	2394	-			611			Ig-like C2-type.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1832G>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873709	0.91664	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.65916	-0.18;-0.18;-0.18	5.38	5.38	0.77491	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.78783	-0.2069	10	0.46703	T	0.11	.	19.1326	0.93413	0.0:1.0:0.0:0.0	.	629;611	F5H1Z7;Q99985	.;SEM3C_HUMAN	M	611;611;629	ENSP00000265361:R611M;ENSP00000411193:R611M;ENSP00000445649:R629M	ENSP00000265361:R611M	R	-	2	0	SEMA3C	80216160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.511000	0.84671	0.563000	0.77884	AGG		PASS	0.458	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		33	142	33	142	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86394595	86394595	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:86394595T>A	ENST00000361669.2	+	2	1233	c.134T>A	c.(133-135)tTt>tAt	p.F45Y	GRM3_ENST00000439827.1_Missense_Mutation_p.F45Y|GRM3_ENST00000394720.2_Missense_Mutation_p.F43Y|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	45					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.F45Y(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)					GGGGGCCTGTTTCCTATTAAC	0.408																																					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.(133-135)TTT>TAT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						111.0	114.0	113.0					7																	86394595		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394595T>A		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.134T>A	7.37:g.86394595T>A	ENSP00000355316:p.Phe45Tyr					GRM3_uc010lef.2_Missense_Mutation_p.F43Y|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	p.F45Y	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1233	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		45			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.134T>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896941	0.91962	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.90215	0.6941	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91675	0.5353	10	0.72032	D	0.01	.	14.4674	0.67492	0.0:0.0:0.0:1.0	.	45;45	G5E9K2;Q14832	.;GRM3_HUMAN	Y	45;45;43;45;45	ENSP00000355316:F45Y;ENSP00000398767:F45Y;ENSP00000378209:F43Y;ENSP00000390037:F45Y;ENSP00000407490:F45Y	ENSP00000355316:F45Y	F	+	2	0	GRM3	86232531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.861000	0.87004	2.206000	0.71126	0.533000	0.62120	TTT		PASS	0.408	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			67	151	67	151	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87035754	87035754	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:87035754G>C	ENST00000265723.4	-	26	3468	c.3357C>G	c.(3355-3357)ctC>ctG	p.L1119L	ABCB4_ENST00000545634.1_Silent_p.L1112L|ABCB4_ENST00000359206.3_Silent_p.L1112L|ABCB4_ENST00000358400.3_Silent_p.L1065L|ABCB4_ENST00000453593.1_Silent_p.L1065L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1119	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.L1112L(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ACACGATTCCGAGTTGAGCTC	0.438																																						uc003uiv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(3355-3357)CTC>CTG		ATP-binding cassette, subfamily B, member 4							106.0	102.0	103.0					7																	87035754		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87035754G>C	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3357C>G	7.37:g.87035754G>C						ABCB4_uc003uiw.1_Silent_p.L1112L|ABCB4_uc003uix.1_Silent_p.L1065L	p.L1119L	NM_018849	NP_061337	P21439	MDR3_HUMAN			26	3433	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1119			ABC transporter 2.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.3357C>G	CCDS5606.1																																																																																				PASS	0.438	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		11	219	11	219	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87135326	87135326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:87135326G>A	ENST00000265724.3	-	28	3940	c.3523C>T	c.(3523-3525)Cag>Tag	p.Q1175*	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Nonsense_Mutation_p.Q1111*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1175	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.Q1175*(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CCAGAGAGCTGAGTTCCTTTG	0.408																																						uc003uiz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3523-3525)CAG>TAG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						168.0	150.0	156.0					7																	87135326		2203	4300	6503	SO:0001587	stop_gained	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87135326G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3523C>T	7.37:g.87135326G>A	ENSP00000265724:p.Gln1175*					ABCB1_uc011khc.1_Nonsense_Mutation_p.Q1111*	p.Q1175*	NM_000927	NP_000918	P08183	MDR1_HUMAN			28	3941	-	Esophageal squamous(14;0.00164)		1175			Cytoplasmic (Potential).|ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	c.3523C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	46	12.647542	0.99685	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.4814	19.3618	0.94442	0.0:0.0:1.0:0.0	.	.	.	.	X	956;1175;1111	.	ENSP00000265724:Q1175X	Q	-	1	0	ABCB1	86973262	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.853000	0.99521	2.820000	0.97059	0.650000	0.86243	CAG		PASS	0.408	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		17	152	17	152	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87178835	87178835	+	Splice_Site	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:87178835C>T	ENST00000265724.3	-	15	1972		c.e15-1		ABCB1_ENST00000543898.1_Splice_Site	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1						drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.?(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TGTCAAATTTCTACCACAGAA	0.483																																						uc003uiz.1																			1	Unknown(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.e15-1		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						79.0	77.0	78.0					7																	87178835		2203	4300	6503	SO:0001630	splice_region_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87178835C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1555-1G>A	7.37:g.87178835C>T						ABCB1_uc011khc.1_Splice_Site_p.K455_splice	p.K519_splice	NM_000927	NP_000918	P08183	MDR1_HUMAN			15	1973	-	Esophageal squamous(14;0.00164)							A8K294|B5AK60|Q12755|Q14812	Splice_Site	SNP	ENST00000265724.3	37	c.1555_splice	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689378	0.68271	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	.	.	.	5.94	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8908	0.70606	0.0:0.9318:0.0:0.0681	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB1	87016771	1.000000	0.71417	0.971000	0.41717	0.949000	0.60115	7.798000	0.85924	1.526000	0.49068	0.650000	0.86243	.		PASS	0.483	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	Intron	21	157	21	157	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87778317	87778317	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:87778317G>C	ENST00000265727.7	+	18	1590	c.1511G>C	c.(1510-1512)cGa>cCa	p.R504P	ADAM22_ENST00000398204.4_Missense_Mutation_p.R504P|ADAM22_ENST00000398209.3_Missense_Mutation_p.R504P|ADAM22_ENST00000398201.4_Missense_Mutation_p.R504P|ADAM22_ENST00000315984.7_Missense_Mutation_p.R504P			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	504	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R504P(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACTGTGTGCCGAGAAGCAGTA	0.348																																						uc003ujn.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1510-1512)CGA>CCA		ADAM metallopeptidase domain 22 isoform 1							68.0	60.0	63.0					7																	87778317		1811	4076	5887	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87778317G>C	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1511G>C	7.37:g.87778317G>C	ENSP00000265727:p.Arg504Pro					ADAM22_uc003ujk.1_Missense_Mutation_p.R504P|ADAM22_uc003ujl.1_Missense_Mutation_p.R504P|ADAM22_uc003ujm.2_Missense_Mutation_p.R504P|ADAM22_uc003ujo.2_Missense_Mutation_p.R504P|ADAM22_uc003ujp.1_Missense_Mutation_p.R556P	p.R504P	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		18	1590	+	Esophageal squamous(14;0.00202)		504			Disintegrin.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.1511G>C	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816422	0.90790	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	5.21	5.21	0.72293	Disintegrin, conserved site (1);Blood coagulation inhibitor, Disintegrin (6);	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	H	0.98866	4.355	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;0.999;1.0;0.998	T	0.81899	-0.0721	10	0.87932	D	0	.	17.5519	0.87879	0.0:0.0:1.0:0.0	.	556;504;504;504	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	P	504;504;504;504;504;471	ENSP00000381262:R504P;ENSP00000381260:R504P;ENSP00000265727:R504P;ENSP00000315900:R504P;ENSP00000381267:R504P;ENSP00000381261:R471P	ENSP00000265727:R504P	R	+	2	0	ADAM22	87616253	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	8.764000	0.91719	2.410000	0.81850	0.655000	0.94253	CGA		PASS	0.348	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		10	56	10	56	---	---	---	---
STEAP4	79689	broad.mit.edu	37	7	87912107	87912107	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:87912107C>G	ENST00000380079.4	-	3	934	c.833G>C	c.(832-834)cGa>cCa	p.R278P	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.R278P|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	278	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)	p.R278P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GTCTGGGAATCGACGGTATTT	0.478																																						uc003ujs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(832-834)CGA>CCA		tumor necrosis factor, alpha-induced protein 9							92.0	89.0	90.0					7																	87912107		1970	4149	6119	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912107C>G	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.833G>C	7.37:g.87912107C>G	ENSP00000369419:p.Arg278Pro					STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.R278P	p.R278P	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			3	938	-	Esophageal squamous(14;0.00802)		278			Ferric oxidoreductase.		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.833G>C	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209301	0.79240	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	D;D	0.91295	-2.82;-2.82	6.08	4.27	0.50696	Flavoprotein transmembrane component (1);	0.102711	0.64402	D	0.000001	D	0.95452	0.8523	M	0.89095	3.005	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.95892	0.8908	10	0.87932	D	0	-5.4553	12.1705	0.54155	0.0:0.8637:0.0:0.1363	.	278;278	C9JS50;Q687X5	.;STEA4_HUMAN	P	278	ENSP00000369419:R278P;ENSP00000394399:R278P	ENSP00000369419:R278P	R	-	2	0	STEAP4	87750043	1.000000	0.71417	0.990000	0.47175	0.954000	0.61252	4.968000	0.63728	1.579000	0.49836	0.591000	0.81541	CGA		PASS	0.478	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		8	83	8	83	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965543	88965543	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:88965543A>G	ENST00000333190.4	+	4	3856	c.3247A>G	c.(3247-3249)Act>Gct	p.T1083A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1083							metal ion binding (GO:0046872)	p.T1083A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAATAAATATACTGGTGTGAC	0.353										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3247-3249)ACT>GCT		zinc finger protein 804B							54.0	53.0	53.0					7																	88965543		2202	4300	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965543A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3247A>G	7.37:g.88965543A>G	ENSP00000329638:p.Thr1083Ala	HNSCC(36;0.09)					p.T1083A	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3785	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1083					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3247A>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.538731	0.27475	.	.	ENSG00000182348	ENST00000333190	T	0.04970	3.52	5.04	1.03	0.20045	.	0.470661	0.21664	N	0.070979	T	0.04724	0.0128	L	0.32530	0.975	0.27760	N	0.943871	B	0.17852	0.024	B	0.12156	0.007	T	0.26916	-1.0089	10	0.54805	T	0.06	-3.1243	5.1684	0.15098	0.4157:0.0:0.088:0.4963	.	1083	A4D1E1	Z804B_HUMAN	A	1083	ENSP00000329638:T1083A	ENSP00000329638:T1083A	T	+	1	0	ZNF804B	88803479	0.972000	0.33761	0.509000	0.27700	0.835000	0.47333	0.791000	0.26915	0.449000	0.26747	0.533000	0.62120	ACT		PASS	0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		49	105	49	105	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965729	88965729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:88965729C>T	ENST00000333190.4	+	4	4042	c.3433C>T	c.(3433-3435)Caa>Taa	p.Q1145*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1145							metal ion binding (GO:0046872)	p.Q1145*(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCCTTTAATTCAACAGCCCAT	0.383										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3433-3435)CAA>TAA		zinc finger protein 804B							57.0	59.0	58.0					7																	88965729		2203	4300	6503	SO:0001587	stop_gained	219578					intracellular	zinc ion binding	g.chr7:88965729C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3433C>T	7.37:g.88965729C>T	ENSP00000329638:p.Gln1145*	HNSCC(36;0.09)					p.Q1145*	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3971	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1145					B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	ENST00000333190.4	37	c.3433C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	44	10.934379	0.99491	.	.	ENSG00000182348	ENST00000333190	.	.	.	4.61	4.61	0.57282	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.097	18.0083	0.89216	0.0:1.0:0.0:0.0	.	.	.	.	X	1145	.	ENSP00000329638:Q1145X	Q	+	1	0	ZNF804B	88803665	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.933000	0.56545	2.549000	0.85964	0.655000	0.94253	CAA		PASS	0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		23	159	23	159	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92120593	92120593	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:92120593G>C	ENST00000248633.4	-	21	3526	c.3431C>G	c.(3430-3432)tCt>tGt	p.S1144C	AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.S822C|PEX1_ENST00000428214.1_Missense_Mutation_p.S1087C	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1144					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.S1144C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TACCAAATCAGAAGAGGTTCC	0.383																																						uc003uly.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3430-3432)TCT>TGT		peroxin1							87.0	89.0	88.0					7																	92120593		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92120593G>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3431C>G	7.37:g.92120593G>C	ENSP00000248633:p.Ser1144Cys					PEX1_uc011khr.1_Missense_Mutation_p.S936C|PEX1_uc010ley.2_Missense_Mutation_p.S1087C|PEX1_uc011khs.1_Missense_Mutation_p.S822C	p.S1144C	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		21	3527	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1144					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.3431C>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566735	0.45694	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.95690	-3.66;-3.78;-3.69	5.4	4.51	0.55191	.	0.380205	0.31461	N	0.007614	D	0.92760	0.7698	L	0.43152	1.355	0.80722	D	1	B;B;B	0.22983	0.078;0.007;0.007	B;B;B	0.20767	0.031;0.007;0.007	D	0.90365	0.4376	10	0.56958	D	0.05	-13.8079	14.9968	0.71439	0.0:0.1417:0.8583:0.0	.	822;936;1144	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	C	822;1144;1087	ENSP00000410438:S822C;ENSP00000248633:S1144C;ENSP00000394413:S1087C	ENSP00000248633:S1144C	S	-	2	0	PEX1	91958529	1.000000	0.71417	0.981000	0.43875	0.971000	0.66376	6.015000	0.70791	1.396000	0.46663	0.491000	0.48974	TCT		PASS	0.383	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		21	164	21	164	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92760988	92760989	+	Silent	DNP	GG	GG	AT	rs372573257	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:92760988_92760989GG>AT	ENST00000318238.4	-	5	5512_5513	c.4296_4297CC>AT	c.(4294-4299)ctCCtg>ctATtg	p.1432_1433LL>LL	SAMD9L_ENST00000437805.1_Silent_p.1432_1433LL>LL|SAMD9L_ENST00000411955.1_Silent_p.1432_1433LL>LL	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1432					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.L1433L(1)|p.(=)(1)|p.L1432L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCCAGAACAGGAGGCAGGCCA	0.401																																						uc003umh.1																			3	Substitution - coding silent(2)|Unknown(1)		lung(3)	ovary(4)	4						c.(4297-4299)CTG>TTG|c.(4294-4296)CTC>CTA		sterile alpha motif domain containing 9-like																																				SO:0001819	synonymous_variant	219285							g.chr7:92760988G>A|g.chr7:92760989G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4296_4297delinsAT	7.37:g.92760988_92760989delinsAT						SAMD9L_uc003umj.1_Silent_p.L1433L|SAMD9L_uc003umi.1_Silent_p.L1433L|SAMD9L_uc010lfb.1_Silent_p.L1433L|SAMD9L_uc003umk.1_Silent_p.L1433L|SAMD9L_uc010lfc.1_Silent_p.L1433L|SAMD9L_uc010lfd.1_Silent_p.L1433L|SAMD9L_uc011khx.1_3'UTR|SAMD9L_uc003umj.1_Silent_p.L1432L|SAMD9L_uc003umi.1_Silent_p.L1432L|SAMD9L_uc010lfb.1_Silent_p.L1432L|SAMD9L_uc003umk.1_Silent_p.L1432L|SAMD9L_uc010lfc.1_Silent_p.L1432L|SAMD9L_uc010lfd.1_Silent_p.L1432L|SAMD9L_uc011khx.1_3'UTR	p.L1433L|p.L1432L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5513|5512	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1433|1432					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.4297C>T|c.4296C>A	CCDS34681.1																																																																																				PASS	0.401	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		103|102	308|309	102	308	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92761651	92761651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:92761651G>A	ENST00000318238.4	-	5	4850	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.Q1212*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.Q1212*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1212					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.Q1212*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGAGTGAGCTGAAGAATCTGG	0.393																																						uc003umh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(3634-3636)CAG>TAG		sterile alpha motif domain containing 9-like							114.0	109.0	110.0					7																	92761651		2203	4299	6502	SO:0001587	stop_gained	219285							g.chr7:92761651G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3634C>T	7.37:g.92761651G>A	ENSP00000326247:p.Gln1212*					SAMD9L_uc003umj.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc011khx.1_Intron	p.Q1212*	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4850	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1212					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	c.3634C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	49	15.086580	0.99822	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.58	4.58	0.56647	.	0.631054	0.14825	N	0.296216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-8.2787	3.7841	0.08692	0.09:0.1626:0.579:0.1683	.	.	.	.	X	1212	.	ENSP00000326247:Q1212X	Q	-	1	0	SAMD9L	92599587	0.001000	0.12720	1.000000	0.80357	0.732000	0.41865	0.270000	0.18607	2.530000	0.85305	0.467000	0.42956	CAG		PASS	0.393	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		121	306	121	306	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92762173	92762173	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:92762173G>C	ENST00000318238.4	-	5	4328	c.3112C>G	c.(3112-3114)Ctt>Gtt	p.L1038V	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1038V|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1038V	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1038					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.L1038V(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GTAAGCAGAAGAGTTTGAACA	0.338																																						uc003umh.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3112-3114)CTT>GTT		sterile alpha motif domain containing 9-like							83.0	81.0	82.0					7																	92762173		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92762173G>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3112C>G	7.37:g.92762173G>C	ENSP00000326247:p.Leu1038Val					SAMD9L_uc003umj.1_Missense_Mutation_p.L1038V|SAMD9L_uc003umi.1_Missense_Mutation_p.L1038V|SAMD9L_uc010lfb.1_Missense_Mutation_p.L1038V|SAMD9L_uc003umk.1_Missense_Mutation_p.L1038V|SAMD9L_uc010lfc.1_Missense_Mutation_p.L1038V|SAMD9L_uc010lfd.1_Missense_Mutation_p.L1038V|SAMD9L_uc011khx.1_Intron	p.L1038V	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4328	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1038					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3112C>G	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787923	0.49997	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.31510	1.49;1.49;1.49	5.22	4.32	0.51571	.	0.160831	0.37530	N	0.002048	T	0.41994	0.1183	M	0.61703	1.905	0.31376	N	0.679604	D	0.61697	0.99	P	0.59424	0.857	T	0.51911	-0.8645	10	0.72032	D	0.01	-9.9057	5.0357	0.14432	0.1449:0.0:0.5612:0.2939	.	1038	Q8IVG5	SAM9L_HUMAN	V	1038	ENSP00000326247:L1038V;ENSP00000405760:L1038V;ENSP00000408796:L1038V	ENSP00000326247:L1038V	L	-	1	0	SAMD9L	92600109	0.995000	0.38212	0.997000	0.53966	0.967000	0.64934	2.629000	0.46485	2.716000	0.92895	0.467000	0.42956	CTT		PASS	0.338	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		71	212	71	212	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98508016	98508016	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:98508016G>A	ENST00000359863.4	+	15	1897	c.1688G>A	c.(1687-1689)gGc>gAc	p.G563D	TRRAP_ENST00000446306.3_Missense_Mutation_p.G563D|TRRAP_ENST00000355540.3_Missense_Mutation_p.G563D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	563					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.G563D(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCACGTGGGGCATAACATCA	0.393																																						uc003upp.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(1687-1689)GGC>GAC		transformation/transcription domain-associated							158.0	155.0	156.0					7																	98508016		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98508016G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1688G>A	7.37:g.98508016G>A	ENSP00000352925:p.Gly563Asp					TRRAP_uc011kis.1_Missense_Mutation_p.G563D|TRRAP_uc003upr.2_Missense_Mutation_p.G255D	p.G563D	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		15	1897	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		563					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.1688G>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.217393|5.217393	0.95104|0.95104	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.39406	.|1.08;1.08	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65760|0.65760	0.2722|0.2722	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;1.0	.|D;P;D	.|0.73380	.|0.98;0.9;0.956	T|T	0.61337|0.61337	-0.7083|-0.7083	5|10	.|0.40728	.|T	.|0.16	.|.	20.3018|20.3018	0.98617|0.98617	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|563;277;563	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	T|D	278|563	.|ENSP00000352925:G563D;ENSP00000347733:G563D	.|ENSP00000347733:G563D	A|G	+|+	1|2	0|0	TRRAP|TRRAP	98345952|98345952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.869000|9.869000	0.99810|0.99810	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	GCA|GGC		PASS	0.393	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		44	265	44	265	---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99022723	99022723	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:99022723T>C	ENST00000292478.4	-	6	1682	c.1432A>G	c.(1432-1434)Atg>Gtg	p.M478V	PTCD1_ENST00000555673.1_Missense_Mutation_p.M527V|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.M527V	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	478					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.M478V(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTCTGCCATCTTGCTCAGG	0.662																																						uc003uqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1432-1434)ATG>GTG		pentatricopeptide repeat domain 1							45.0	48.0	47.0					7																	99022723		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99022723T>C	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1432A>G	7.37:g.99022723T>C	ENSP00000292478:p.Met478Val					PTCD1_uc011kiw.1_Missense_Mutation_p.M527V	p.M478V	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	1563	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		478					Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.1432A>G	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351131	0.82132	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.74947	-0.89;-0.84;-0.84	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	M	0.87456	2.885	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.99	D	0.90015	0.4124	10	0.87932	D	0	-40.0343	15.9977	0.80265	0.0:0.0:0.0:1.0	.	527;478	G3V325;O75127	.;PTCD1_HUMAN	V	478;260;527;527	ENSP00000292478:M478V;ENSP00000450995:M527V;ENSP00000400168:M527V	ENSP00000400168:M527V	M	-	1	0	ATP5J2-PTCD1;PTCD1	98860659	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.036000	0.88901	2.178000	0.69098	0.459000	0.35465	ATG		PASS	0.662	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		22	102	22	102	---	---	---	---
ZNF394	84124	broad.mit.edu	37	7	99091386	99091386	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:99091386G>C	ENST00000337673.6	-	3	1655	c.1452C>G	c.(1450-1452)ctC>ctG	p.L484L	ZNF394_ENST00000394177.3_5'Flank|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	484					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L484L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGTGTTTAAAGAGGTCAGAGC	0.448																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1450-1452)CTC>CTG		zinc finger protein 394							119.0	115.0	116.0					7																	99091386		2203	4300	6503	SO:0001819	synonymous_variant	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99091386G>C	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1452C>G	7.37:g.99091386G>C						ZNF394_uc003uqt.2_Silent_p.L277L	p.L484L	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			3	1613	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		484			C2H2-type 5.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	37	c.1452C>G	CCDS5666.1																																																																																				PASS	0.448	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		11	251	11	251	---	---	---	---
CYP3A7	1551	broad.mit.edu	37	7	99306722	99306722	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:99306722G>C	ENST00000336374.2	-	11	1191	c.1189C>G	c.(1189-1191)Cca>Gca	p.P397A		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	397					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.P397A(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ACATAGCTTGGAATCATCACC	0.483																																						uc003uru.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1189-1191)CCA>GCA		cytochrome P450, family 3, subfamily A,							184.0	178.0	180.0					7																	99306722		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99306722G>C	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1189C>G	7.37:g.99306722G>C	ENSP00000337450:p.Pro397Ala					ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.P397A	NM_000765	NP_000756	P24462	CP3A7_HUMAN			11	1294	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		397					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.1189C>G	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	g	11.46	1.644989	0.29246	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.68765	-0.35	3.46	1.58	0.23477	.	0.053174	0.85682	D	0.000000	T	0.81767	0.4892	M	0.91663	3.23	0.35306	D	0.783478	D	0.89917	1.0	D	0.75484	0.986	D	0.83576	0.0115	10	0.87932	D	0	.	7.5253	0.27652	0.2215:0.0:0.7785:0.0	.	397	P24462	CP3A7_HUMAN	A	397	ENSP00000337450:P397A	ENSP00000292414:P397A	P	-	1	0	CYP3A7	99144658	1.000000	0.71417	0.001000	0.08648	0.268000	0.26511	5.367000	0.66127	0.107000	0.17824	0.305000	0.20034	CCA		PASS	0.483	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			28	205	28	205	---	---	---	---
CYP3A43	64816	broad.mit.edu	37	7	99445849	99445849	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:99445849G>C	ENST00000354829.2	+	6	596	c.493G>C	c.(493-495)Gag>Cag	p.E165Q	CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.E165Q|CYP3A43_ENST00000222382.5_Missense_Mutation_p.E165Q|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000342499.4_Missense_Mutation_p.R27T|CYP3A43_ENST00000477658.1_3'UTR	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	165			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.E165Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	GCAGGAAGCAGAGAACAGCAA	0.493																																						uc003urx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(493-495)GAG>CAG		cytochrome P450, family 3, subfamily A,	Cetirizine(DB00341)|Doxycycline(DB00254)						171.0	134.0	146.0					7																	99445849		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99445849G>C	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.493G>C	7.37:g.99445849G>C	ENSP00000346887:p.Glu165Gln					CYP3A43_uc003ury.1_Missense_Mutation_p.E165Q|CYP3A43_uc003urz.1_Missense_Mutation_p.E165Q|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Missense_Mutation_p.R27T	p.E165Q	NM_057095	NP_476436	Q9HB55	CP343_HUMAN			6	596	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		165		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.493G>C	CCDS5676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.28|11.28	1.591503|1.591503	0.28357|0.28357	.|.	.|.	ENSG00000021461|ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382|ENST00000342499	T;T;T|T	0.69175|0.78003	-0.38;-0.38;-0.38|-1.14	2.91|2.91	0.925|0.925	0.19424|0.19424	.|.	0.481200|.	0.22927|.	N|.	0.053949|.	T|T	0.70701|0.70701	0.3254|0.3254	M|M	0.63169|0.63169	1.94|1.94	0.20703|0.20703	N|N	0.999868|0.999868	B;B;B|B	0.23316|0.18968	0.068;0.083;0.017|0.032	B;B;B|B	0.27796|0.20184	0.083;0.054;0.034|0.028	T|T	0.60667|0.60667	-0.7218|-0.7218	10|9	0.56958|0.51188	D|T	0.05|0.08	.|.	4.7888|4.7888	0.13238|0.13238	0.1405:0.2203:0.6392:0.0|0.1405:0.2203:0.6392:0.0	.|.	165;165;165|27	Q9HB55-3;Q75MK2;Q9HB55|F8W6L8	.;.;CP343_HUMAN|.	Q|T	165|27	ENSP00000346887:E165Q;ENSP00000312110:E165Q;ENSP00000222382:E165Q|ENSP00000345351:R27T	ENSP00000222382:E165Q|ENSP00000345351:R27T	E|R	+|+	1|2	0|0	CYP3A43|CYP3A43	99283785|99283785	0.998000|0.998000	0.40836|0.40836	0.076000|0.076000	0.20297|0.20297	0.260000|0.260000	0.26232|0.26232	0.696000|0.696000	0.25541|0.25541	0.051000|0.051000	0.15978|0.15978	0.205000|0.205000	0.17691|0.17691	GAG|AGA		PASS	0.493	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			6	64	6	64	---	---	---	---
MOSPD3	64598	broad.mit.edu	37	7	100211221	100211221	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:100211221C>T	ENST00000393950.2	+	3	685	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	MOSPD3_ENST00000379527.2_Silent_p.L135L|MOSPD3_ENST00000223054.4_Silent_p.L135L|MOSPD3_ENST00000424091.2_Silent_p.L125L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	135	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.L135L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TACCTCCATTCTGAGAGCCCC	0.622																																						uc003uvq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(403-405)CTG>TTG		motile sperm domain containing 3 isoform a							69.0	64.0	66.0					7																	100211221		2203	4300	6503	SO:0001819	synonymous_variant	64598					integral to membrane	structural molecule activity	g.chr7:100211221C>T	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.403C>T	7.37:g.100211221C>T						MOSPD3_uc003uvr.2_Silent_p.L135L|MOSPD3_uc003uvs.2_Silent_p.L135L|MOSPD3_uc003uvt.2_Silent_p.L125L	p.L135L	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN			4	605	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		135			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	c.403C>T	CCDS5701.1																																																																																				PASS	0.622	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		15	123	15	123	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100421299	100421299	+	Silent	SNP	G	G	A	rs145080354	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:100421299G>A	ENST00000358173.3	-	3	846	c.378C>T	c.(376-378)ctC>ctT	p.L126L	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Silent_p.L126L|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	126	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L126L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGGCTGGCGTGAGGGCCGTGG	0.657																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(376-378)CTC>CTT		EPH receptor B4 precursor		G		0,4406		0,0,2203	49.0	48.0	48.0		378	4.3	0.9	7	dbSNP_134	48	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	EPHB4	NM_004444.4		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		126/988	100421299	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421299G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.378C>T	7.37:g.100421299G>A						EPHB4_uc003uwm.1_Silent_p.L33L|EPHB4_uc010lhj.1_Silent_p.L126L|EPHB4_uc011kkf.1_Silent_p.L126L|EPHB4_uc011kkg.1_Silent_p.L126L|EPHB4_uc011kkh.1_Silent_p.L126L	p.L126L	NM_004444	NP_004435	P54760	EPHB4_HUMAN			3	869	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		126			Extracellular (Potential).		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.378C>T	CCDS5706.1																																																																																				PASS	0.657	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		10	89	10	89	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100459086	100459086	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:100459086C>G	ENST00000354161.3	+	11	1541	c.1416C>G	c.(1414-1416)ctC>ctG	p.L472L	SLC12A9_ENST00000428758.1_Silent_p.L472L|SLC12A9_ENST00000415287.1_Silent_p.L383L|SLC12A9_ENST00000540482.1_Silent_p.L472L|SLC12A9_ENST00000275729.3_Silent_p.L383L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	472					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.L472L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGATGTTCCTCATCAGTCCTG	0.677																																						uc003uwp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1414-1416)CTC>CTG		solute carrier family 12 (potassium/chloride							90.0	90.0	90.0					7																	100459086		2203	4300	6503	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459086C>G	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1416C>G	7.37:g.100459086C>G						SLC12A9_uc003uwq.2_Silent_p.L383L|SLC12A9_uc011kki.1_Silent_p.L3L|SLC12A9_uc003uwr.2_Silent_p.L208L|SLC12A9_uc003uws.2_Silent_p.L3L|SLC12A9_uc003uwt.2_Silent_p.L208L|SLC12A9_uc003uwv.2_Silent_p.L3L	p.L472L	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			11	1558	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		472			Helical; (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.1416C>G	CCDS5707.1																																																																																				PASS	0.677	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		18	187	18	187	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100684352	100684352	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:100684352G>A	ENST00000306151.4	+	3	9719	c.9655G>A	c.(9655-9657)Gaa>Aaa	p.E3219K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3219	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.E3219K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGGAATGAC	0.498																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9655-9657)GAA>AAA		mucin 17 precursor							278.0	280.0	279.0					7																	100684352		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684352G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9655G>A	7.37:g.100684352G>A	ENSP00000302716:p.Glu3219Lys					MUC17_uc010lho.1_RNA	p.E3219K	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9708	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3219			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9655G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.294498	0.23564	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	0.441	0.441	0.16577	.	.	.	.	.	T	0.02727	0.0082	N	0.12182	0.205	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.36286	-0.9754	9	0.06757	T	0.87	.	6.7709	0.23593	2.0E-4:0.0:0.9998:0.0	.	3219	Q685J3	MUC17_HUMAN	K	3219	ENSP00000302716:E3219K	ENSP00000302716:E3219K	E	+	1	0	MUC17	100471072	0.003000	0.15002	0.003000	0.11579	0.036000	0.12997	-0.178000	0.09782	0.508000	0.28173	0.134000	0.15878	GAA		PASS	0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		73	509	73	509	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100852175	100852175	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:100852175C>G	ENST00000223127.3	-	16	2145	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	583					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.E583Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TGCTCCATCTCTGCCACCAGC	0.627																																						uc003uyd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1747-1749)GAG>CAG		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						104.0	84.0	91.0					7																	100852175		2203	4300	6503	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding	g.chr7:100852175C>G	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1747G>C	7.37:g.100852175C>G	ENSP00000223127:p.Glu583Gln					PLOD3_uc010lhs.2_Missense_Mutation_p.E148Q	p.E583Q	NM_001084	NP_001075	O60568	PLOD3_HUMAN			16	2203	-	Lung NSC(181;0.168)|all_lung(186;0.215)		583					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.1747G>C	CCDS5715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.76|19.76	3.887552|3.887552	0.72410|0.72410	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000223127|ENST00000454310	D|.	0.85258|.	-1.96|.	4.36|4.36	4.36|4.36	0.52297|0.52297	Prolyl 4-hydroxylase, alpha subunit (1);|.	0.153355|.	0.43747|.	D|.	0.000530|.	T|T	0.70902|0.70902	0.3277|0.3277	M|M	0.78344|0.78344	2.41|2.41	0.33708|0.33708	D|D	0.615392|0.615392	D;D|.	0.71674|.	0.996;0.998|.	D;D|.	0.68943|.	0.911;0.961|.	T|T	0.80190|0.80190	-0.1485|-0.1485	10|5	0.52906|.	T|.	0.07|.	-28.4684|-28.4684	14.7556|14.7556	0.69560|0.69560	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	210;583|.	Q9UG85;O60568|.	.;PLOD3_HUMAN|.	Q|H	583|157	ENSP00000223127:E583Q|.	ENSP00000223127:E583Q|.	E|Q	-|-	1|3	0|2	PLOD3|PLOD3	100638895|100638895	0.962000|0.962000	0.33011|0.33011	0.999000|0.999000	0.59377|0.59377	0.943000|0.943000	0.58893|0.58893	2.526000|2.526000	0.45607|0.45607	2.153000|2.153000	0.67306|0.67306	0.561000|0.561000	0.74099|0.74099	GAG|CAG		PASS	0.627	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			12	105	12	105	---	---	---	---
NAMPT	10135	broad.mit.edu	37	7	105913032	105913032	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:105913032G>C	ENST00000222553.3	-	4	698	c.391C>G	c.(391-393)Ctc>Gtc	p.L131V	NAMPT_ENST00000354289.4_Missense_Mutation_p.L131V|NAMPT_ENST00000484527.1_5'UTR	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	131					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)	p.L131V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ACCGTGAAGAGAACATTTCCT	0.333																																						uc003vdq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(391-393)CTC>GTC		nicotinamide phosphoribosyltransferase							72.0	73.0	72.0					7																	105913032		2203	4300	6503	SO:0001583	missense	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105913032G>C	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.391C>G	7.37:g.105913032G>C	ENSP00000222553:p.Leu131Val					NAMPT_uc003vdr.1_Missense_Mutation_p.L131V|NAMPT_uc011klu.1_Missense_Mutation_p.L44V	p.L131V	NM_005746	NP_005737	P43490	NAMPT_HUMAN			4	699	-			131					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	c.391C>G	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595293	0.46318	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	T;T	0.73575	-0.76;-0.76	5.2	5.2	0.72013	.	0.133721	0.52532	D	0.000078	T	0.71143	0.3305	L	0.58583	1.82	0.40739	D	0.982818	B;B;B	0.28258	0.205;0.042;0.0	B;B;B	0.26693	0.072;0.061;0.002	T	0.67791	-0.5579	10	0.16896	T	0.51	-8.8388	19.1572	0.93516	0.0:0.0:1.0:0.0	.	44;112;131	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	V	131	ENSP00000222553:L131V;ENSP00000346242:L131V	ENSP00000222553:L131V	L	-	1	0	NAMPT	105700268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.151000	0.71806	2.604000	0.88044	0.650000	0.86243	CTC		PASS	0.333	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		26	154	26	154	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508159	106508159	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:106508159C>G	ENST00000359195.3	+	2	463	c.153C>G	c.(151-153)tgC>tgG	p.C51W	PIK3CG_ENST00000496166.1_Missense_Mutation_p.C51W|PIK3CG_ENST00000440650.2_Missense_Mutation_p.C51W	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	51	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C51W(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCGCAAATGCAAGAGCCCCG	0.682																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(151-153)TGC>TGG		phosphoinositide-3-kinase, catalytic, gamma							31.0	36.0	34.0					7																	106508159		2200	4299	6499	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508159C>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.153C>G	7.37:g.106508159C>G	ENSP00000352121:p.Cys51Trp					PIK3CG_uc003vdu.2_Missense_Mutation_p.C51W|PIK3CG_uc003vdw.2_Missense_Mutation_p.C51W	p.C51W	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	238	+			51					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.153C>G	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036725	0.19669	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69806	-0.43;-0.43;-0.43	5.64	5.64	0.86602	.	4.276620	0.00166	N	0.000004	T	0.54303	0.1850	N	0.08118	0	0.43698	D	0.996159	B	0.26002	0.139	B	0.31686	0.134	T	0.46345	-0.9198	10	0.51188	T	0.08	-9.5049	8.5943	0.33705	0.0:0.8368:0.0:0.1632	.	51	P48736	PK3CG_HUMAN	W	51	ENSP00000392258:C51W;ENSP00000419260:C51W;ENSP00000352121:C51W	ENSP00000352121:C51W	C	+	3	2	PIK3CG	106295395	0.996000	0.38824	0.999000	0.59377	0.874000	0.50279	0.883000	0.28200	2.816000	0.96949	0.563000	0.77884	TGC		PASS	0.682	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			19	62	19	62	---	---	---	---
BCAP29	55973	broad.mit.edu	37	7	107240935	107240935	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:107240935A>T	ENST00000005259.4	+	6	913	c.574A>T	c.(574-576)Agg>Tgg	p.R192W	BCAP29_ENST00000445771.2_Missense_Mutation_p.R192W|BCAP29_ENST00000379117.2_Missense_Mutation_p.R192W|snoU109_ENST00000459477.1_RNA|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379119.2_Missense_Mutation_p.R192W|BCAP29_ENST00000379121.2_Missense_Mutation_p.R98W|BCAP29_ENST00000465919.1_Missense_Mutation_p.R98W	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	192					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R192W(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AACTGAATTAAGGAAGACTTC	0.318																																						uc003vej.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(574-576)AGG>TGG		B-cell receptor-associated protein BAP29 isoform							65.0	67.0	67.0					7																	107240935		2203	4298	6501	SO:0001583	missense	55973				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		g.chr7:107240935A>T		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.574A>T	7.37:g.107240935A>T	ENSP00000005259:p.Arg192Trp					BCAP29_uc011kly.1_Missense_Mutation_p.R98W|BCAP29_uc011klz.1_Missense_Mutation_p.R192W|BCAP29_uc011kma.1_Missense_Mutation_p.R192W	p.R192W	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN			6	913	+			192			Cytoplasmic (Potential).		G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	c.574A>T	CCDS34731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.73|14.73	2.621632|2.621632	0.46736|0.46736	.|.	.|.	ENSG00000075790|ENSG00000075790	ENST00000436699|ENST00000005259;ENST00000465919;ENST00000445771;ENST00000479917;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121	.|T	.|0.43294	.|0.95	5.46|5.46	4.31|4.31	0.51392|0.51392	.|.	.|0.273242	.|0.45867	.|D	.|0.000339	T|T	0.42314|0.42314	0.1197|0.1197	N|N	0.19112|0.19112	0.55|0.55	0.30555|0.30555	N|N	0.765109|0.765109	.|D;P;P	.|0.61080	.|0.989;0.775;0.897	.|P;P;P	.|0.58577	.|0.841;0.61;0.61	T|T	0.46105|0.46105	-0.9215|-0.9215	5|10	.|0.72032	.|D	.|0.01	-32.9407|-32.9407	10.3541|10.3541	0.43954|0.43954	0.9213:0.0:0.0787:0.0|0.9213:0.0:0.0787:0.0	.|.	.|192;192;192	.|G5E9L4;C9JTE9;Q9UHQ4	.|.;.;BAP29_HUMAN	M|W	105|192;98;192;192;192;192;192;149;98	.|ENSP00000368416:R98W	.|ENSP00000005259:R192W	K|R	+|+	2|1	0|2	BCAP29|BCAP29	107028171|107028171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.113000|0.113000	0.19764|0.19764	3.874000|3.874000	0.56101|0.56101	0.905000|0.905000	0.36596|0.36596	-0.250000|-0.250000	0.11733|0.11733	AAG|AGG		PASS	0.318	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		30	61	30	61	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107314718	107314718	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:107314718G>C	ENST00000265715.3	+	5	749	c.525G>C	c.(523-525)atG>atC	p.M175I		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	175					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.M175I(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATACTACTATGATAGACACTG	0.433									Pendred syndrome																													uc003vep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(523-525)ATG>ATC		pendrin							121.0	114.0	117.0					7																	107314718		2203	4300	6503	SO:0001583	missense	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107314718G>C	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.525G>C	7.37:g.107314718G>C	ENSP00000265715:p.Met175Ile						p.M175I	NM_000441	NP_000432	O43511	S26A4_HUMAN			5	749	+			175			Extracellular (Potential).		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.525G>C	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	5.498	0.276908	0.10403	.	.	ENSG00000091137	ENST00000265715	D	0.92805	-3.11	5.07	-0.29	0.12847	.	1.517990	0.03538	N	0.223516	T	0.80544	0.4643	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69154	-0.5220	10	0.16420	T	0.52	.	6.0244	0.19646	0.2759:0.3517:0.3724:0.0	.	175	O43511	S26A4_HUMAN	I	175	ENSP00000265715:M175I	ENSP00000265715:M175I	M	+	3	0	SLC26A4	107101954	0.028000	0.19301	0.000000	0.03702	0.005000	0.04900	0.349000	0.20055	-0.394000	0.07727	0.655000	0.94253	ATG		PASS	0.433	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		8	188	8	188	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107849976	107849976	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:107849976C>T	ENST00000425651.2	-	9	963	c.964G>A	c.(964-966)Gag>Aag	p.E322K	NRCAM_ENST00000413765.2_Missense_Mutation_p.E303K|NRCAM_ENST00000379028.3_Missense_Mutation_p.E322K|NRCAM_ENST00000379022.4_Missense_Mutation_p.E322K|NRCAM_ENST00000379024.4_Missense_Mutation_p.E303K|NRCAM_ENST00000351718.4_Missense_Mutation_p.E316K	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	322	Ig-like 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.E316K(1)|p.E322K(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AAGGTTTTCTCAAAGTTCTTA	0.373																																						uc003vfb.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)	5						c.(964-966)GAG>AAG		neuronal cell adhesion molecule isoform A							173.0	164.0	167.0					7																	107849976		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107849976C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.964G>A	7.37:g.107849976C>T	ENSP00000401244:p.Glu322Lys					NRCAM_uc003vfc.2_Missense_Mutation_p.E316K|NRCAM_uc011kmk.1_Missense_Mutation_p.E317K|NRCAM_uc003vfd.2_Missense_Mutation_p.E298K|NRCAM_uc003vfe.2_Missense_Mutation_p.E298K	p.E322K	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			12	1435	-			322			Ig-like 3.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.964G>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421967	0.25639	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.8	1.81	0.25067	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.510248	0.23889	N	0.043561	T	0.42154	0.1190	N	0.10874	0.06	0.26225	N	0.979098	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.12837	0.002;0.001;0.008;0.0;0.0	T	0.21759	-1.0236	10	0.27785	T	0.31	.	8.0648	0.30654	0.0:0.0685:0.2795:0.6521	.	322;303;303;316;322	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	K	322;322;303;322;316;303;322;322;316;316	ENSP00000368314:E322K;ENSP00000407858:E303K;ENSP00000325269:E316K;ENSP00000368310:E303K;ENSP00000401244:E322K;ENSP00000368308:E322K;ENSP00000390421:E316K	ENSP00000325269:E316K	E	-	1	0	NRCAM	107637212	0.998000	0.40836	0.990000	0.47175	0.776000	0.43924	1.128000	0.31369	0.088000	0.17205	-0.440000	0.05779	GAG		PASS	0.373	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		16	241	16	241	---	---	---	---
C7orf66	154907	broad.mit.edu	37	7	108524189	108524189	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:108524189C>G	ENST00000379007.2	-	2	277	c.223G>C	c.(223-225)Gat>Cat	p.D75H		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	75						integral component of membrane (GO:0016021)		p.D75H(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TATCTCTGATCCATCATGTGA	0.413																																						uc003vfo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(223-225)GAT>CAT		hypothetical protein LOC154907							193.0	165.0	175.0					7																	108524189		2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524189C>G	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.223G>C	7.37:g.108524189C>G	ENSP00000368292:p.Asp75His						p.D75H	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			2	271	-			75						Missense_Mutation	SNP	ENST00000379007.2	37	c.223G>C	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	C	7.781	0.709463	0.15239	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.5	0.505	0.16953	.	.	.	.	.	T	0.14830	0.0358	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.18263	0.021	T	0.27806	-1.0063	7	.	.	.	.	3.5359	0.07794	0.0:0.4999:0.2319:0.2682	.	75	A4D0T2	CG066_HUMAN	H	75	.	.	D	-	1	0	C7orf66	108311425	0.003000	0.15002	0.000000	0.03702	0.010000	0.07245	0.023000	0.13533	0.080000	0.16959	-0.251000	0.11542	GAT		PASS	0.413	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		28	248	28	248	---	---	---	---
TMEM168	64418	broad.mit.edu	37	7	112415351	112415351	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:112415351C>T	ENST00000312814.6	-	3	1711	c.1151G>A	c.(1150-1152)aGc>aAc	p.S384N	TMEM168_ENST00000480969.1_5'UTR|TMEM168_ENST00000454074.1_Missense_Mutation_p.S384N	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	384						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.S384N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TAGAAACATGCTCAAGAAAAT	0.358																																						uc003vgn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1150-1152)AGC>AAC		transmembrane protein 168							76.0	67.0	70.0					7																	112415351		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112415351C>T		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1151G>A	7.37:g.112415351C>T	ENSP00000323068:p.Ser384Asn					TMEM168_uc010lju.2_Missense_Mutation_p.S384N|TMEM168_uc011kmr.1_5'UTR	p.S384N	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			3	1543	-			384			Helical; (Potential).		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1151G>A	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589681	0.86851	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000418785;ENST00000441474	.	.	.	5.18	5.18	0.71444	.	0.164275	0.64402	D	0.000002	T	0.69324	0.3098	L	0.59436	1.845	0.80722	D	1	P	0.50819	0.939	P	0.49708	0.62	T	0.73681	-0.3906	9	0.87932	D	0	-20.9676	19.0538	0.93055	0.0:1.0:0.0:0.0	.	384	Q9H0V1	TM168_HUMAN	N	384;384;24;36	.	ENSP00000323068:S384N	S	-	2	0	TMEM168	112202587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.908000	0.69916	2.587000	0.87381	0.563000	0.77884	AGC		PASS	0.358	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		12	77	12	77	---	---	---	---
C7orf60	154743	broad.mit.edu	37	7	112461888	112461888	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:112461888C>G	ENST00000297145.4	-	5	1294	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	377							rRNA (adenine) methyltransferase activity (GO:0016433)	p.D377N(1)|p.D377H(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TATGGCGCATCAGGGAgttct	0.378																																						uc003vgo.1																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(2)|skin(1)	3						c.(1129-1131)GAT>CAT		hypothetical protein LOC154743							68.0	65.0	66.0					7																	112461888		1852	4100	5952	SO:0001583	missense	154743							g.chr7:112461888C>G		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.1129G>C	7.37:g.112461888C>G	ENSP00000297145:p.Asp377His					C7orf60_uc011kms.1_Missense_Mutation_p.D403H	p.D377H	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			5	1256	-			377					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.1129G>C	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557408	0.65425	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.83	5.83	0.93111	.	0.044615	0.85682	D	0.000000	T	0.64605	0.2613	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.984;0.999	P;D	0.64595	0.641;0.927	T	0.68573	-0.5373	9	0.87932	D	0	-14.2384	20.1197	0.97955	0.0:1.0:0.0:0.0	.	324;377	B4DST1;Q1RMZ1	.;CG060_HUMAN	H	377;359;324	.	ENSP00000297145:D377H	D	-	1	0	C7orf60	112249124	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.747000	0.94245	0.585000	0.79938	GAT		PASS	0.378	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		30	166	30	166	---	---	---	---
MET	4233	broad.mit.edu	37	7	116397818	116397818	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:116397818A>T	ENST00000318493.6	+	8	2279	c.2092A>T	c.(2092-2094)Act>Tct	p.T698S	MET_ENST00000436117.2_Missense_Mutation_p.T698S|MET_ENST00000397752.3_Missense_Mutation_p.T698S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T698S(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAAAACATGTACTTTAAAAAG	0.323			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(2092-2094)ACT>TCT		met proto-oncogene isoform b precursor							85.0	83.0	84.0					7																	116397818		1832	4092	5924	SO:0001583	missense	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116397818A>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2092A>T	7.37:g.116397818A>T	ENSP00000317272:p.Thr698Ser					MET_uc010lkh.2_Missense_Mutation_p.T698S|MET_uc011kne.1_Missense_Mutation_p.T670S|MET_uc011knf.1_Missense_Mutation_p.T698S|MET_uc011kng.1_Missense_Mutation_p.T698S|MET_uc011knh.1_Missense_Mutation_p.T698S|MET_uc011kni.1_Missense_Mutation_p.T698S|MET_uc011knj.1_Missense_Mutation_p.T268S	p.T698S	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		8	2279	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	698			Extracellular (Potential).|IPT/TIG 2.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2092A>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.920372	0.33908	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.77358	-1.09;-1.09;-1.09	5.45	5.45	0.79879	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.310182	0.38959	N	0.001515	T	0.65585	0.2705	N	0.26092	0.79	0.80722	D	1	B;B;B;B;B;B;B	0.16166	0.009;0.001;0.016;0.009;0.005;0.004;0.004	B;B;B;B;B;B;B	0.19666	0.015;0.004;0.026;0.006;0.018;0.01;0.016	T	0.60900	-0.7171	10	0.09084	T	0.74	.	15.809	0.78543	1.0:0.0:0.0:0.0	.	698;698;698;698;670;698;698	B5A929;E7EQ94;B5A930;B5A934;B5A936;P08581-2;P08581	.;.;.;.;.;.;MET_HUMAN	S	698	ENSP00000380860:T698S;ENSP00000317272:T698S;ENSP00000410980:T698S	ENSP00000317272:T698S	T	+	1	0	MET	116185054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.780000	0.55386	2.193000	0.70182	0.477000	0.44152	ACT		PASS	0.323	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			51	171	51	171	---	---	---	---
ANKRD7	56311	broad.mit.edu	37	7	117864918	117864918	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:117864918A>T	ENST00000265224.4	+	1	189	c.34A>T	c.(34-36)Aat>Tat	p.N12Y	ANKRD7_ENST00000477532.1_Intron|ANKRD7_ENST00000417525.1_5'UTR|ANKRD7_ENST00000433239.1_5'Flank|ANKRD7_ENST00000357099.4_Missense_Mutation_p.N12Y	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	12					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.N12Y(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GAAGAGGAAGAATGAGACCCG	0.507																																						uc003vji.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)AAT>TAT		ankyrin repeat domain 7							73.0	75.0	74.0					7																	117864918		1884	4123	6007	SO:0001583	missense	56311				male gonad development			g.chr7:117864918A>T	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.34A>T	7.37:g.117864918A>T	ENSP00000265224:p.Asn12Tyr						p.N12Y	NM_019644	NP_062618	Q92527	ANKR7_HUMAN			1	207	+			12					B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	c.34A>T	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.331688	0.24167	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000486422	T;T;T	0.39997	1.05;1.15;1.91	3.44	-3.34	0.04943	.	.	.	.	.	T	0.23846	0.0577	L	0.29908	0.895	0.09310	N	1	B	0.19331	0.035	B	0.10450	0.005	T	0.22452	-1.0216	9	0.62326	D	0.03	-2.4767	1.8546	0.03176	0.4896:0.1429:0.2228:0.1448	.	12	Q92527	ANKR7_HUMAN	Y	12	ENSP00000349612:N12Y;ENSP00000265224:N12Y;ENSP00000417353:N12Y	ENSP00000265224:N12Y	N	+	1	0	ANKRD7	117652154	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.427000	0.06999	-0.812000	0.04363	-0.473000	0.04963	AAT		PASS	0.507	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		9	109	9	109	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119915141	119915141	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:119915141C>A	ENST00000331113.4	+	1	1420	c.455C>A	c.(454-456)gCg>gAg	p.A152E		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	152					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.A152E(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CAGGACGACGCGGATACCGAC	0.632																																						uc003vjj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(454-456)GCG>GAG		potassium voltage-gated channel, Shal-related							74.0	76.0	76.0					7																	119915141		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915141C>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.455C>A	7.37:g.119915141C>A	ENSP00000333496:p.Ala152Glu						p.A152E	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1420	+	all_neural(327;0.117)		152			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.455C>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.132881	0.00338	.	.	ENSG00000184408	ENST00000331113	D	0.96365	-3.99	5.71	3.9	0.45041	.	0.139652	0.48286	D	0.000182	D	0.87188	0.6115	N	0.02192	-0.645	0.44380	D	0.997288	B	0.02656	0.0	B	0.06405	0.002	T	0.79711	-0.1689	9	.	.	.	.	11.7861	0.52043	0.0:0.8105:0.1231:0.0664	.	152	Q9NZV8	KCND2_HUMAN	E	152	ENSP00000333496:A152E	.	A	+	2	0	KCND2	119702377	0.996000	0.38824	0.289000	0.24876	0.032000	0.12392	3.421000	0.52742	0.767000	0.33267	-0.176000	0.13171	GCG		PASS	0.632	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		47	122	47	122	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121653533	121653533	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:121653533C>T	ENST00000393386.2	+	12	4844	c.4433C>T	c.(4432-4434)tCt>tTt	p.S1478F	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1478					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.S1478F(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						TACTCACTATCTGAGAATTCT	0.393																																						uc003vjy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(4432-4434)TCT>TTT		protein tyrosine phosphatase, receptor-type,							79.0	78.0	78.0					7																	121653533		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.chr7:121653533C>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.4433C>T	7.37:g.121653533C>T	ENSP00000377047:p.Ser1478Phe					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.S1478F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	4828	+			1478			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4433C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540340	0.13250	.	.	ENSG00000106278	ENST00000393386	T	0.44083	0.93	5.45	3.59	0.41128	.	0.389475	0.24625	N	0.036940	T	0.39332	0.1074	M	0.64997	1.995	0.18873	N	0.999984	B	0.06786	0.001	B	0.06405	0.002	T	0.30179	-0.9987	10	0.38643	T	0.18	.	11.6648	0.51368	0.0:0.798:0.0:0.202	.	1478	P23471	PTPRZ_HUMAN	F	1478	ENSP00000377047:S1478F	ENSP00000377047:S1478F	S	+	2	0	PTPRZ1	121440769	0.949000	0.32298	0.019000	0.16419	0.375000	0.29983	1.725000	0.38074	1.401000	0.46761	0.650000	0.86243	TCT		PASS	0.393	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		19	116	19	116	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122261611	122261611	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:122261611G>C	ENST00000449022.2	-	5	1047	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C	CADPS2_ENST00000313070.7_Missense_Mutation_p.S343C|CADPS2_ENST00000412584.2_Missense_Mutation_p.S343C|CADPS2_ENST00000334010.7_Missense_Mutation_p.S343C	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	343					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.S343C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAAAAATGCAGAGTTCTGTGA	0.398																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1027-1029)TCT>TGT		Ca2+-dependent activator protein for secretion 2							129.0	124.0	125.0					7																	122261611		1841	4090	5931	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122261611G>C		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1028C>G	7.37:g.122261611G>C	ENSP00000398481:p.Ser343Cys					CADPS2_uc003vkg.3_Missense_Mutation_p.S43C|CADPS2_uc010lkq.2_Missense_Mutation_p.S343C	p.S343C	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			5	1191	-			343					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.1028C>G	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665113	0.67700	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.6	5.6	0.85130	.	0.163605	0.53938	D	0.000045	T	0.59662	0.2210	L	0.52011	1.625	0.40453	D	0.980167	P;D;P	0.60575	0.831;0.988;0.932	P;P;P	0.55112	0.769;0.533;0.639	T	0.62196	-0.6905	10	0.66056	D	0.02	-15.2765	19.6159	0.95633	0.0:0.0:1.0:0.0	.	343;343;343	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	C	343;343;343;310;343;343	ENSP00000325581:S343C;ENSP00000333940:S343C;ENSP00000400401:S343C;ENSP00000398481:S343C	ENSP00000325581:S343C	S	-	2	0	CADPS2	122048847	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.057000	0.57455	2.644000	0.89710	0.467000	0.42956	TCT		PASS	0.398	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		25	221	25	221	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122261629	122261629	+	Nonsense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:122261629A>C	ENST00000449022.2	-	5	1029	c.1010T>G	c.(1009-1011)tTa>tGa	p.L337*	CADPS2_ENST00000313070.7_Nonsense_Mutation_p.L337*|CADPS2_ENST00000412584.2_Nonsense_Mutation_p.L337*|CADPS2_ENST00000334010.7_Nonsense_Mutation_p.L337*	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	337					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.L337*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGAACGTTTTAATTTTTGTAA	0.388																																						uc010lkp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1009-1011)TTA>TGA		Ca2+-dependent activator protein for secretion 2							103.0	101.0	101.0					7																	122261629		1819	4075	5894	SO:0001587	stop_gained	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122261629A>C		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1010T>G	7.37:g.122261629A>C	ENSP00000398481:p.Leu337*					CADPS2_uc003vkg.3_Nonsense_Mutation_p.L37*|CADPS2_uc010lkq.2_Nonsense_Mutation_p.L337*	p.L337*	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			5	1173	-			337					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Nonsense_Mutation	SNP	ENST00000449022.2	37	c.1010T>G	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	A	45	11.573182	0.99578	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.	.	.	5.6	5.6	0.85130	.	0.246545	0.35067	N	0.003463	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3822	15.785	0.78294	1.0:0.0:0.0:0.0	.	.	.	.	X	337;337;337;304;337;337	.	ENSP00000325581:L337X	L	-	2	0	CADPS2	122048865	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.219000	0.78000	2.136000	0.66102	0.383000	0.25322	TTA		PASS	0.388	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		17	207	17	207	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126410082	126410082	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:126410082C>A	ENST00000339582.2	-	7	2002	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.Q398H|GRM8_ENST00000444921.2_Missense_Mutation_p.Q398H|GRM8_ENST00000358373.3_Missense_Mutation_p.Q398H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	398					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.Q398H(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCTTTCCTTCCTGTTCATAAG	0.403										HNSCC(24;0.065)																												uc003vlr.2																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1192-1194)CAG>CAT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						94.0	81.0	85.0					7																	126410082		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126410082C>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1194G>T	7.37:g.126410082C>A	ENSP00000344173:p.Gln398His	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Q398H|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.Q119H	p.Q398H	NM_000845	NP_000836	O00222	GRM8_HUMAN			6	1505	-		Prostate(267;0.186)	398			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1194G>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630851	0.28978	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.88	1.48	0.22813	Extracellular ligand-binding receptor (1);	0.059723	0.64402	D	0.000002	D	0.90724	0.7089	M	0.78801	2.425	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.994;0.999	D;P;D	0.87578	0.998;0.904;0.977	D	0.87601	0.2497	10	0.87932	D	0	.	3.9045	0.09176	0.1705:0.4732:0.0:0.3563	.	398;398;398	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	H	398	ENSP00000344173:Q398H;ENSP00000409790:Q398H;ENSP00000351142:Q398H;ENSP00000385731:Q398H	ENSP00000344173:Q398H	Q	-	3	2	GRM8	126197318	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	0.748000	0.26305	0.369000	0.24510	-0.182000	0.12963	CAG		PASS	0.403	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			27	65	27	65	---	---	---	---
GCC1	79571	broad.mit.edu	37	7	127222843	127222843	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:127222843T>A	ENST00000321407.2	-	2	1977	c.1553A>T	c.(1552-1554)gAg>gTg	p.E518V	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	518					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.E518V(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGGGCTGCCTCCAGCTCCTT	0.527																																						uc003vma.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1552-1554)GAG>GTG		Golgi coiled-coil protein 1							78.0	74.0	75.0					7																	127222843		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222843T>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1553A>T	7.37:g.127222843T>A	ENSP00000318821:p.Glu518Val						p.E518V	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			2	1971	-			518			Potential.		Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1553A>T	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523875	0.64747	.	.	ENSG00000179562	ENST00000321407	T	0.14022	2.54	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01566	-1.1323	10	0.52906	T	0.07	-31.4963	13.4815	0.61338	0.0:0.0:0.0:1.0	.	518	Q96CN9	GCC1_HUMAN	V	518	ENSP00000318821:E518V	ENSP00000318821:E518V	E	-	2	0	GCC1	127010079	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	5.767000	0.68850	2.123000	0.65237	0.533000	0.62120	GAG		PASS	0.527	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		28	189	28	189	---	---	---	---
CALD1	800	broad.mit.edu	37	7	134643009	134643009	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:134643009A>C	ENST00000361675.2	+	11	2258	c.2029A>C	c.(2029-2031)Agc>Cgc	p.S677R	CALD1_ENST00000361901.2_Missense_Mutation_p.S422R|CALD1_ENST00000361388.2_Missense_Mutation_p.S448R|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.S416R|CALD1_ENST00000543443.1_Missense_Mutation_p.S427R|CALD1_ENST00000422748.1_Missense_Mutation_p.S447R|CALD1_ENST00000495522.1_Missense_Mutation_p.S441R|CALD1_ENST00000393118.2_Missense_Mutation_p.S442R|CALD1_ENST00000417172.1_Missense_Mutation_p.S422R			Q05682	CALD1_HUMAN	caldesmon 1	677	Strong actin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.S677R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CAAGATTGACAGCAGACTGGA	0.393																																						uc003vrz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2029-2031)AGC>CGC		caldesmon 1 isoform 1							168.0	163.0	165.0					7																	134643009		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134643009A>C	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.2029A>C	7.37:g.134643009A>C	ENSP00000354826:p.Ser677Arg					CALD1_uc003vry.2_Missense_Mutation_p.S422R|CALD1_uc003vsa.2_Missense_Mutation_p.S448R|CALD1_uc003vsb.2_Missense_Mutation_p.S422R|CALD1_uc010lmm.2_Missense_Mutation_p.S447R|CALD1_uc011kpt.1_Missense_Mutation_p.S196R|CALD1_uc003vsc.2_Missense_Mutation_p.S442R|CALD1_uc003vsd.2_Missense_Mutation_p.S416R|CALD1_uc011kpu.1_Missense_Mutation_p.S427R|CALD1_uc011kpv.1_Missense_Mutation_p.S286R|CALD1_uc003vse.2_Missense_Mutation_p.S540R|CALD1_uc010lmn.2_5'Flank	p.S677R	NM_033138	NP_149129	Q05682	CALD1_HUMAN			11	2488	+			677			Strong actin-binding (By similarity).		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.2029A>C	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.947385	0.92593	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000432646;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000017	T	0.70020	0.3176	M	0.80982	2.52	0.47778	D	0.999519	D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.998;0.998;0.997;0.999;0.998;0.999	D;D;D;D;D;D;D;D;D;D	0.85130	0.981;0.968;0.981;0.981;0.952;0.952;0.949;0.968;0.984;0.997	T	0.71745	-0.4500	10	0.41790	T	0.15	-19.3279	15.6282	0.76878	1.0:0.0:0.0:0.0	.	371;427;447;441;416;442;422;448;677;422	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	R	422;422;448;447;55;677;422;442;416;441;427	ENSP00000398826:S422R;ENSP00000411476:S422R;ENSP00000355000:S448R;ENSP00000395710:S447R;ENSP00000354826:S677R;ENSP00000354513:S422R;ENSP00000376826:S442R;ENSP00000393621:S416R;ENSP00000419673:S441R;ENSP00000445641:S427R	ENSP00000355000:S448R	S	+	1	0	CALD1	134293549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.826000	0.92034	2.093000	0.63338	0.533000	0.62120	AGC		PASS	0.393	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		46	243	46	243	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135291576	135291576	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:135291576C>G	ENST00000285968.6	+	21	3009	c.2983C>G	c.(2983-2985)Ctg>Gtg	p.L995V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	995					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.L995V(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CATTACCTCTCTGGAATGCAA	0.378																																						uc003vsw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2983-2985)CTG>GTG		nucleoporin 205kDa							158.0	150.0	153.0					7																	135291576		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135291576C>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2983C>G	7.37:g.135291576C>G	ENSP00000285968:p.Leu995Val						p.L995V	NM_015135	NP_055950	Q92621	NU205_HUMAN			21	3014	+			995					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2983C>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926206	0.52759	.	.	ENSG00000155561	ENST00000285968	T	0.48836	0.8	5.04	3.23	0.37069	.	0.000000	0.64402	D	0.000001	T	0.49966	0.1588	M	0.64567	1.98	0.80722	D	1	P	0.48089	0.905	P	0.47430	0.547	T	0.47586	-0.9106	10	0.42905	T	0.14	-14.6878	11.3744	0.49719	0.0:0.8515:0.0:0.1485	.	995	Q92621	NU205_HUMAN	V	995	ENSP00000285968:L995V	ENSP00000285968:L995V	L	+	1	2	NUP205	134942116	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	1.132000	0.31418	0.634000	0.30469	0.561000	0.74099	CTG		PASS	0.378	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			37	255	37	255	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135304536	135304536	+	Splice_Site	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:135304536A>C	ENST00000285968.6	+	30	4257		c.e30-1			NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.?(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TAATCTCCCTAGGTGGTGGAT	0.358																																						uc003vsw.2																			1	Unknown(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.e30-2		nucleoporin 205kDa							204.0	211.0	209.0					7																	135304536		2203	4300	6503	SO:0001630	splice_region_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135304536A>C	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4232-1A>C	7.37:g.135304536A>C						NUP205_uc003vsx.2_5'Flank	p.G1411_splice	NM_015135	NP_055950	Q92621	NU205_HUMAN			30	4263	+								A6H8X3|Q86YC1	Splice_Site	SNP	ENST00000285968.6	37	c.4232_splice	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.522870	0.64747	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1611	0.81712	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP205	134955076	1.000000	0.71417	0.960000	0.40013	0.813000	0.45954	9.029000	0.93718	2.213000	0.71641	0.477000	0.44152	.		PASS	0.358	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		Intron	99	652	99	652	---	---	---	---
ZC3HAV1	56829	broad.mit.edu	37	7	138764635	138764635	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:138764635G>A	ENST00000242351.5	-	4	1368	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S351F|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S351F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	351					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.S351F(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGTTGAATTGGAAGCAAGGTA	0.542																																						uc003vun.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1051-1053)TCC>TTC		zinc finger antiviral protein isoform 1							120.0	122.0	121.0					7																	138764635		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764635G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1052C>T	7.37:g.138764635G>A	ENSP00000242351:p.Ser351Phe					ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Missense_Mutation_p.S351F	p.S351F	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			4	1440	-			351					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1052C>T	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	8.109	0.778318	0.16120	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.32023	1.47;1.47;1.47	4.15	2.29	0.28610	.	0.934101	0.08938	N	0.872084	T	0.21761	0.0524	L	0.29908	0.895	0.09310	N	1	B;B	0.21309	0.025;0.054	B;B	0.20767	0.018;0.031	T	0.26916	-1.0089	10	0.41790	T	0.15	.	5.7979	0.18397	0.2567:0.0:0.7433:0.0	.	351;351	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	F	351;351;351;111	ENSP00000242351:S351F;ENSP00000418385:S351F;ENSP00000419855:S351F	ENSP00000242351:S351F	S	-	2	0	ZC3HAV1	138415175	0.016000	0.18221	0.003000	0.11579	0.095000	0.18619	1.662000	0.37418	0.478000	0.27488	0.650000	0.86243	TCC		PASS	0.542	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		27	194	27	194	---	---	---	---
UBN2	254048	broad.mit.edu	37	7	138968151	138968151	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:138968151G>T	ENST00000473989.3	+	15	2500	c.2500G>T	c.(2500-2502)Gct>Tct	p.A834S	UBN2_ENST00000288561.8_Missense_Mutation_p.A751S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	834						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.A751S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGTCTTATTGCTGGTCACAC	0.423																																						uc011kqr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2500-2502)GCT>TCT		ubinuclein 2							91.0	91.0	91.0					7																	138968151		1882	4118	6000	SO:0001583	missense	254048							g.chr7:138968151G>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2500G>T	7.37:g.138968151G>T	ENSP00000418648:p.Ala834Ser						p.A834S	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			15	2500	+			834					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.2500G>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617202	0.66672	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.38722	1.12;1.35	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	L	0.43152	1.355	0.52501	D	0.999951	D	0.69078	0.997	D	0.75020	0.985	T	0.41963	-0.9479	10	0.21540	T	0.41	-11.8969	20.0185	0.97487	0.0:0.0:1.0:0.0	.	834	Q6ZU65	UBN2_HUMAN	S	834;751	ENSP00000418648:A834S;ENSP00000288561:A751S	ENSP00000288561:A751S	A	+	1	0	UBN2	138618691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.722000	0.74735	2.809000	0.96659	0.467000	0.42956	GCT		PASS	0.423	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		25	156	25	156	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141752640	141752640	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:141752640C>T	ENST00000549489.2	+	26	3110	c.3015C>T	c.(3013-3015)gtC>gtT	p.V1005V	MGAM_ENST00000475668.2_Silent_p.V1005V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1005					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.V1005V(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATACTCTGTCAGTGATGTTC	0.473																																						uc003vwy.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(3013-3015)GTC>GTT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						159.0	146.0	150.0					7																	141752640		1902	4122	6024	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141752640C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3015C>T	7.37:g.141752640C>T							p.V1005V	NM_004668	NP_004659	O43451	MGA_HUMAN			26	3069	+	Melanoma(164;0.0272)		1005			Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3015C>T	CCDS47727.1																																																																																				PASS	0.473	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	322	8	322	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142606708	142606708	+	Missense_Mutation	SNP	G	G	A	rs148001669		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:142606708G>A	ENST00000265310.1	-	14	2191	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	615					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R615C(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATCCCGGAGCGAGGCCACAGG	0.592																																						uc003wby.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1843-1845)CGC>TGC		transient receptor potential cation channel,		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	69.0	72.0		1843	4.8	1.0	7	dbSNP_134	72	0,8600		0,0,4300	no	missense	TRPV5	NM_019841.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	615/730	142606708	1,13005	2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142606708G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1843C>T	7.37:g.142606708G>A	ENSP00000265310:p.Arg615Cys						p.R615C	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			14	2107	-	Melanoma(164;0.059)		615			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1843C>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182709	0.78677	2.27E-4	0.0	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.82711	-1.58;-1.64	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	M	0.83384	2.64	0.80722	D	1	B	0.33318	0.408	B	0.26693	0.072	D	0.84228	0.0465	10	0.87932	D	0	-14.5709	12.4738	0.55801	0.0:0.0:0.833:0.167	.	615	Q9NQA5	TRPV5_HUMAN	C	615;560	ENSP00000265310:R615C;ENSP00000406361:R560C	ENSP00000265310:R615C	R	-	1	0	TRPV5	142316830	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.932000	0.63476	2.672000	0.90937	0.655000	0.94253	CGC		PASS	0.592	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		24	86	24	86	---	---	---	---
TPK1	27010	broad.mit.edu	37	7	144380014	144380014	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:144380014C>A	ENST00000360057.3	-	4	275	c.173G>T	c.(172-174)gGa>gTa	p.G58V	TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000538212.2_Nonsense_Mutation_p.E13*|TPK1_ENST00000378099.3_Missense_Mutation_p.G58V	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	58					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.G58V(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TTCTCTCTCTCCTTCGGTGAT	0.378																																					Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(172-174)GGA>GTA		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						205.0	202.0	203.0					7																	144380014		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144380014C>A	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.173G>T	7.37:g.144380014C>A	ENSP00000353165:p.Gly58Val					TPK1_uc003weo.2_Nonsense_Mutation_p.E13*|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.G58V|TPK1_uc003wes.2_RNA	p.G58V	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			4	276	-			58					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.173G>T	CCDS5888.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.089638|6.089638	0.97271|0.97271	.|.	.|.	ENSG00000196511|ENSG00000196511	ENST00000538212|ENST00000360057;ENST00000378099;ENST00000552881	.|D;D;D	.|0.84070	.|-1.8;-1.8;-1.8	6.02|6.02	4.21|4.21	0.49690|0.49690	.|Thiamin pyrophosphokinase, catalytic domain (3);	.|0.095005	.|0.64402	.|D	.|0.000001	.|D	.|0.86952	.|0.6057	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|P;D	.|0.56746	.|0.813;0.977	.|P;P	.|0.56916	.|0.518;0.809	.|D	.|0.86645	.|0.1894	.|10	0.87932|0.48119	D|T	0|0.1	-7.6338|-7.6338	9.4965|9.4965	0.38991|0.38991	0.0:0.8345:0.0:0.1655|0.0:0.8345:0.0:0.1655	.|.	.|58;58	.|F5GZG6;Q9H3S4	.|.;TPK1_HUMAN	X|V	13|58	.|ENSP00000353165:G58V;ENSP00000367339:G58V;ENSP00000448655:G58V	ENSP00000449909:E13X|ENSP00000353165:G58V	E|G	-|-	1|2	0|0	TPK1|TPK1	144010947|144010947	0.995000|0.995000	0.38212|0.38212	0.995000|0.995000	0.50966|0.50966	0.990000|0.990000	0.78478|0.78478	1.740000|1.740000	0.38228|0.38228	1.566000|1.566000	0.49654|0.49654	0.655000|0.655000	0.94253|0.94253	GAG|GGA		PASS	0.378	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		52	367	52	367	---	---	---	---
ZNF786	136051	broad.mit.edu	37	7	148769427	148769427	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:148769427G>C	ENST00000491431.1	-	4	501	c.437C>G	c.(436-438)gCc>gGc	p.A146G	ZNF786_ENST00000451334.3_Missense_Mutation_p.A109G|ZNF786_ENST00000316286.9_Missense_Mutation_p.A60G	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	146					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.A145G(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGGAGCCCTGGCGTCGTGTCT	0.542																																						uc003wfh.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(436-438)GCC>GGC		zinc finger protein 786							43.0	45.0	45.0					7																	148769427		1902	4130	6032	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769427G>C	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.437C>G	7.37:g.148769427G>C	ENSP00000417470:p.Ala146Gly					ZNF786_uc011kuk.1_Missense_Mutation_p.A109G|ZNF786_uc003wfi.2_Missense_Mutation_p.A60G	p.A146G	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	574	-	Melanoma(164;0.15)		146					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.437C>G	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	G	3.646	-0.072620	0.07228	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.07908	3.15;3.27;3.2	4.41	2.45	0.29901	.	2.042020	0.02622	N	0.103350	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34403	-0.9830	10	0.42905	T	0.14	0.6097	12.3139	0.54944	0.0:0.5036:0.4964:0.0	.	146	Q8N393	ZN786_HUMAN	G	60;60;146;109	ENSP00000313516:A60G;ENSP00000417470:A146G;ENSP00000404984:A109G	ENSP00000313516:A60G	A	-	2	0	ZNF786	148400360	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.996000	0.29719	1.055000	0.40461	0.561000	0.74099	GCC		PASS	0.542	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		7	17	7	17	---	---	---	---
ATP6V0E2	155066	broad.mit.edu	37	7	149572732	149572732	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:149572732C>G	ENST00000425642.2	+	2	173	c.150C>G	c.(148-150)ctC>ctG	p.L50L	ATP6V0E2_ENST00000479613.1_Silent_p.L50L|ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2_ENST00000421974.2_Silent_p.L99L|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000464662.1_Silent_p.L50L|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000606024.1_Silent_p.L50L|ATP6V0E2_ENST00000456496.2_Silent_p.L99L			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	50					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|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)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.L99L(3)		lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCTGTTACCTCTTGTAAGTAC	0.547																																						uc003wgr.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(295-297)CTC>CTG		ATPase, H+ transporting, V0 subunit isoform 1							154.0	165.0	162.0					7																	149572732		2180	4287	6467	SO:0001819	synonymous_variant	155066				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity	g.chr7:149572732C>G	AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"""ATPases / V-type"""	21723	protein-coding gene	gene with protein product		611019	"""chromosome 7 open reading frame 32"", ""ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"""	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.150C>G	7.37:g.149572732C>G						LOC401431_uc003wgn.3_5'Flank|LOC401431_uc011kur.1_5'Flank|ATP6V0E2_uc003wgo.1_RNA|ATP6V0E2_uc003wgs.2_Silent_p.L99L|ATP6V0E2_uc003wgp.2_Silent_p.L99L|ATP6V0E2_uc003wgq.2_RNA	p.L99L	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00256)		2	1248	+			50			Helical; (Potential).		A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Silent	SNP	ENST00000425642.2	37	c.297C>G																																																																																					PASS	0.547	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470874.1	NM_145230		8	221	8	221	---	---	---	---
SLC4A2	6522	broad.mit.edu	37	7	150767389	150767389	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:150767389C>G	ENST00000485713.1	+	10	2445	c.1405C>G	c.(1405-1407)Ctc>Gtc	p.L469V	SLC4A2_ENST00000392826.2_Missense_Mutation_p.L460V|SLC4A2_ENST00000461735.1_Missense_Mutation_p.L455V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.L469V|SLC4A2_ENST00000310317.5_Missense_Mutation_p.L387V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	469				LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 7; CAA27556). {ECO:0000305}.	anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.L469V(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCGAGCCTCTCATGGGAGG	0.672																																						uc003wit.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)CTC>GTC		solute carrier family 4, anion exchanger, member							41.0	46.0	44.0					7																	150767389		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767389C>G		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1405C>G	7.37:g.150767389C>G	ENSP00000419412:p.Leu469Val					SLC4A2_uc011kve.1_Missense_Mutation_p.L460V|SLC4A2_uc003wiu.3_Missense_Mutation_p.L455V|SLC4A2_uc003wiv.3_5'Flank	p.L469V	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	10	1661	+			469	LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 6; CAA27556).		Cytoplasmic (Potential).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.1405C>G	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	c	15.43	2.831611	0.50845	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	4.54	4.54	0.55810	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.319555	0.30011	N	0.010633	T	0.57066	0.2028	L	0.45228	1.405	0.58432	D	0.999991	P;P;P	0.43287	0.655;0.802;0.752	B;B;B	0.38428	0.269;0.273;0.255	T	0.57533	-0.7795	10	0.29301	T	0.29	.	14.5552	0.68097	0.0:1.0:0.0:0.0	.	460;455;469	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	V	469;469;387;460;455	ENSP00000419412:L469V;ENSP00000405600:L469V;ENSP00000311402:L387V;ENSP00000376571:L460V;ENSP00000419164:L455V	ENSP00000311402:L387V	L	+	1	0	SLC4A2	150398322	1.000000	0.71417	0.993000	0.49108	0.800000	0.45204	7.184000	0.77705	2.528000	0.85240	0.550000	0.68814	CTC		PASS	0.672	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		14	75	14	75	---	---	---	---
GBX1	2636	broad.mit.edu	37	7	150846114	150846114	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:150846114G>T	ENST00000297537.4	-	2	653	c.654C>A	c.(652-654)ttC>ttA	p.F218L	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	218					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.F218L(1)		large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AACTGTCCAGGAAACCGTCAT	0.622																																						uc011kvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)TTC>TTA		gastrulation brain homeo box 1							219.0	236.0	230.0					7																	150846114		2027	4175	6202	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150846114G>T	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.654C>A	7.37:g.150846114G>T	ENSP00000297537:p.Phe218Leu						p.F218L	NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	886	-			218						Missense_Mutation	SNP	ENST00000297537.4	37	c.654C>A	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006485	0.54361	.	.	ENSG00000164900	ENST00000297537	D	0.91351	-2.83	4.82	3.01	0.34805	.	0.518270	0.16472	U	0.212901	D	0.83533	0.5275	N	0.14661	0.345	0.80722	D	1	D	0.63880	0.993	P	0.49752	0.621	T	0.76211	-0.3042	10	0.11485	T	0.65	-18.0473	10.2189	0.43186	0.1617:0.0:0.8383:0.0	.	218	Q14549	GBX1_HUMAN	L	218	ENSP00000297537:F218L	ENSP00000297537:F218L	F	-	3	2	GBX1	150477047	0.923000	0.31300	0.995000	0.50966	0.972000	0.66771	1.443000	0.35057	0.577000	0.29470	0.591000	0.81541	TTC		PASS	0.622	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			101	640	101	640	---	---	---	---
PRKAG2	51422	broad.mit.edu	37	7	151269752	151269752	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:151269752C>A	ENST00000287878.4	-	9	1553	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	PRKAG2_ENST00000433631.2_Missense_Mutation_p.R225M|PRKAG2_ENST00000492843.1_Missense_Mutation_p.R226M|PRKAG2_ENST00000392801.2_Missense_Mutation_p.R306M|PRKAG2_ENST00000418337.2_Missense_Mutation_p.R109M	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	350			R -> RL (in CMH6; severe). {ECO:0000269|PubMed:11371514}.		ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.R225M(1)|p.R350M(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	GTGCTTACCCCTCCATGTTTC	0.274																																						uc003wkk.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|kidney(1)	2						c.(1048-1050)AGG>ATG		AMP-activated protein kinase gamma2 subunit							106.0	103.0	104.0					7																	151269752		2201	4297	6498	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151269752C>A	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1049G>T	7.37:g.151269752C>A	ENSP00000287878:p.Arg350Met					PRKAG2_uc003wki.2_Missense_Mutation_p.R109M|PRKAG2_uc011kvl.1_Missense_Mutation_p.R225M|PRKAG2_uc003wkj.2_Missense_Mutation_p.R306M|PRKAG2_uc003wkl.2_Intron|PRKAG2_uc010lqe.1_RNA	p.R350M	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	9	1660	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	350		R -> RL (in CMH-WPWS; severe).			Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.1049G>T	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634934	0.87760	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801;ENST00000476632	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.15	5.15	0.70609	Aldolase-type TIM barrel (1);	0.042049	0.85682	D	0.000000	D	0.96426	0.8834	M	0.88512	2.96	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.65140	0.932;0.801	D	0.97193	0.9859	10	0.87932	D	0	.	17.705	0.88306	0.0:1.0:0.0:0.0	.	225;350	B7Z6X8;Q9UGJ0	.;AAKG2_HUMAN	M	109;350;226;225;306;109	ENSP00000387386:R109M;ENSP00000287878:R350M;ENSP00000419577:R226M;ENSP00000406544:R225M;ENSP00000376549:R306M;ENSP00000419493:R109M	ENSP00000287878:R350M	R	-	2	0	PRKAG2	150900685	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.513000	0.81739	2.398000	0.81561	0.650000	0.86243	AGG		PASS	0.274	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		18	110	18	110	---	---	---	---
PRKAG2	51422	broad.mit.edu	37	7	151292541	151292541	+	Splice_Site	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:151292541C>G	ENST00000287878.4	-	6	1259		c.e6-1		PRKAG2_ENST00000433631.2_Intron|PRKAG2_ENST00000492843.1_Splice_Site|PRKAG2_ENST00000392801.2_Splice_Site|PRKAG2_ENST00000418337.2_Splice_Site	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit						ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.?(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TCTTCTACTGCTAAAAGAAAA	0.358																																						uc003wkk.2																			2	Unknown(2)		lung(2)	breast(1)|kidney(1)	2						c.e6-1		AMP-activated protein kinase gamma2 subunit							89.0	81.0	84.0					7																	151292541		2203	4300	6503	SO:0001630	splice_region_variant	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151292541C>G	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.755-1G>C	7.37:g.151292541C>G						PRKAG2_uc003wki.2_Splice_Site_p.A11_splice|PRKAG2_uc011kvl.1_Intron|PRKAG2_uc003wkj.2_Splice_Site_p.A208_splice|PRKAG2_uc003wkl.2_5'Flank|PRKAG2_uc010lqe.1_Splice_Site	p.A252_splice	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	6	1366	-	all_neural(206;0.187)	all_hematologic(28;0.0605)						Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Splice_Site	SNP	ENST00000287878.4	37	c.755_splice	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639812	0.47153	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000392801;ENST00000476632	.	.	.	4.85	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.998	0.53214	0.1745:0.8255:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKAG2	150923474	1.000000	0.71417	0.912000	0.35992	0.594000	0.36715	2.320000	0.43797	0.991000	0.38814	0.557000	0.71058	.		PASS	0.358	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203	Intron	19	92	19	92	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151946970	151946970	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:151946970G>C	ENST00000262189.6	-	13	2022	c.1804C>G	c.(1804-1806)Ctt>Gtt	p.L602V	KMT2C_ENST00000355193.2_Missense_Mutation_p.L602V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	602					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L602V(2)									CCAGCAATAAGAAGACTATCT	0.358																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1804-1806)CTT>GTT		myeloid/lymphoid or mixed-lineage leukemia 3							130.0	106.0	114.0					7																	151946970		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151946970G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1804C>G	7.37:g.151946970G>C	ENSP00000262189:p.Leu602Val						p.L602V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	13	2023	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	602					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1804C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	6.700	0.497894	0.12762	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83914	-1.77;-1.78	5.65	1.67	0.24075	.	1.072180	0.07384	N	0.887844	T	0.70718	0.3256	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.51779	-0.8662	10	0.06625	T	0.88	.	2.6477	0.04990	0.1645:0.1388:0.5442:0.1524	.	602	Q8NEZ4	MLL3_HUMAN	V	602	ENSP00000262189:L602V;ENSP00000347325:L602V	ENSP00000262189:L602V	L	-	1	0	MLL3	151577903	0.436000	0.25586	0.002000	0.10522	0.098000	0.18820	1.516000	0.35856	0.286000	0.22352	-0.143000	0.13931	CTT		PASS	0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			33	107	33	107	---	---	---	---
XRCC2	7516	broad.mit.edu	37	7	152345752	152345752	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr7:152345752C>G	ENST00000359321.1	-	3	903	c.818G>C	c.(817-819)gGa>gCa	p.G273A	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	273					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|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)	p.G273A(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		CCCACTTTCTCCAATAATAAA	0.303								Homologous recombination																														uc003wld.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|liver(1)	2						c.(817-819)GGA>GCA	Homologous_recombination	X-ray repair cross complementing protein 2							30.0	35.0	34.0					7																	152345752		2200	4299	6499	SO:0001583	missense	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152345752C>G	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.818G>C	7.37:g.152345752C>G	ENSP00000352271:p.Gly273Ala						p.G273A	NM_005431	NP_005422	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	904	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	273					B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	c.818G>C	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	C	2.582	-0.297199	0.05532	.	.	ENSG00000196584	ENST00000359321	T	0.65364	-0.15	5.36	4.47	0.54385	.	0.493807	0.21325	N	0.076388	T	0.48021	0.1477	L	0.38175	1.15	0.24437	N	0.994541	B	0.02656	0.0	B	0.06405	0.002	T	0.28004	-1.0057	10	0.05721	T	0.95	-9.3142	14.0986	0.65039	0.0:0.5309:0.4691:0.0	.	273	O43543	XRCC2_HUMAN	A	273	ENSP00000352271:G273A	ENSP00000352271:G273A	G	-	2	0	XRCC2	151976685	0.998000	0.40836	0.930000	0.37139	0.892000	0.51952	2.488000	0.45276	1.233000	0.43693	0.460000	0.39030	GGA		PASS	0.303	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		25	104	25	104	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6302244	6302244	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:6302244C>T	ENST00000344683.5	+	8	1077	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L	MCPH1_ENST00000522905.1_Missense_Mutation_p.P286L|MCPH1_ENST00000519480.1_Missense_Mutation_p.P334L	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	334					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.P334L(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CGTTTGTCTCCTACCTTATCT	0.438																																					Colon(95;1448 1467 8277 34473 35819)	uc003wqi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1000-1002)CCT>CTT		microcephalin							53.0	48.0	50.0					8																	6302244		1897	4128	6025	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6302244C>T	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1001C>T	8.37:g.6302244C>T	ENSP00000342924:p.Pro334Leu					MCPH1_uc003wqh.2_Missense_Mutation_p.P334L|MCPH1_uc011kwl.1_Missense_Mutation_p.P286L	p.P334L	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	1069	+		Hepatocellular(245;0.0663)	334					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.1001C>T	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168642	0.57584	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.34275	1.37;1.37;1.37	5.36	3.56	0.40772	.	0.544307	0.19511	N	0.112519	T	0.55800	0.1943	M	0.75615	2.305	0.09310	N	1	D;D;D	0.71674	0.989;0.998;0.994	P;D;D	0.76575	0.845;0.988;0.918	T	0.46317	-0.9200	10	0.87932	D	0	-6.1768	8.1496	0.31132	0.0:0.8155:0.0:0.1845	.	286;334;334	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	L	334;334;286	ENSP00000342924:P334L;ENSP00000430962:P334L;ENSP00000430768:P286L	ENSP00000342924:P334L	P	+	2	0	MCPH1	6289652	0.004000	0.15560	0.005000	0.12908	0.169000	0.22640	1.190000	0.32126	0.735000	0.32537	0.655000	0.94253	CCT		PASS	0.438	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		11	42	11	42	---	---	---	---
LONRF1	91694	broad.mit.edu	37	8	12583331	12583331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:12583331G>A	ENST00000398246.3	-	11	2137	c.2068C>T	c.(2068-2070)Caa>Taa	p.Q690*	MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000533751.1_Nonsense_Mutation_p.Q333*|LONRF1_ENST00000525024.1_Nonsense_Mutation_p.Q116*	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	690	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.Q690*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CTGCAGGCTTGAGAGTAAACC	0.413																																						uc003wwd.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2068-2070)CAA>TAA		LON peptidase N-terminal domain and ring finger							85.0	82.0	83.0					8																	12583331		1831	4086	5917	SO:0001587	stop_gained	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12583331G>A	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2068C>T	8.37:g.12583331G>A	ENSP00000381298:p.Gln690*					LONRF1_uc011kxv.1_Nonsense_Mutation_p.Q279*|LONRF1_uc010lsp.1_Nonsense_Mutation_p.Q290*	p.Q690*	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	11	2131	-			690			Lon.		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Nonsense_Mutation	SNP	ENST00000398246.3	37	c.2068C>T	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	G	37	6.440311	0.97568	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-16.4714	19.9672	0.97274	0.0:0.0:1.0:0.0	.	.	.	.	X	690;116;333;293	.	ENSP00000381298:Q690X	Q	-	1	0	LONRF1	12627702	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.089000	0.94137	2.894000	0.99253	0.591000	0.81541	CAA		PASS	0.413	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		23	95	23	95	---	---	---	---
TUSC3	7991	broad.mit.edu	37	8	15531304	15531304	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:15531304G>A	ENST00000503731.1	+	6	905	c.757G>A	c.(757-759)Gga>Aga	p.G253R	TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000382020.4_Missense_Mutation_p.G253R|TUSC3_ENST00000506802.1_Missense_Mutation_p.G253R|TUSC3_ENST00000509380.1_Missense_Mutation_p.G253R	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	253					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.G253R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CCATATCCGTGGACCTCCATA	0.373																																						uc003wwt.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(757-759)GGA>AGA		tumor suppressor candidate 3 isoform a							163.0	138.0	147.0					8																	15531304		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15531304G>A	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.757G>A	8.37:g.15531304G>A	ENSP00000424544:p.Gly253Arg					TUSC3_uc003wwr.2_Missense_Mutation_p.G253R|TUSC3_uc003wws.2_Missense_Mutation_p.G253R|TUSC3_uc003wwu.2_Missense_Mutation_p.G253R|TUSC3_uc003wwv.2_Missense_Mutation_p.G253R|TUSC3_uc003www.2_Missense_Mutation_p.G253R|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.G253R	p.G253R	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	6	967	+			253					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.757G>A	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119444	0.94385	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;1.0	D	0.89632	0.3856	10	0.54805	T	0.06	-14.6252	16.8849	0.86073	0.0:0.0:1.0:0.0	.	253;253;253;253;253;253	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	R	253	ENSP00000371450:G253R;ENSP00000425777:G253R;ENSP00000423426:G253R;ENSP00000424544:G253R	ENSP00000221167:G253R	G	+	1	0	TUSC3	15575675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.955000	0.93058	2.768000	0.95171	0.655000	0.94253	GGA		PASS	0.373	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		30	135	30	135	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18662066	18662066	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:18662066C>G	ENST00000327040.8	-	6	1978	c.1876G>C	c.(1876-1878)Gat>Cat	p.D626H	PSD3_ENST00000286485.8_Missense_Mutation_p.D92H|PSD3_ENST00000523619.1_Missense_Mutation_p.D561H|PSD3_ENST00000440756.2_Missense_Mutation_p.D626H	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	626	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				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.D626H(1)|p.D92H(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)		CCTGTAAAATCAAAAAACTTC	0.343																																						uc003wza.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1876-1878)GAT>CAT		ADP-ribosylation factor guanine nucleotide							100.0	105.0	104.0					8																	18662066		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18662066C>G	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.1876G>C	8.37:g.18662066C>G	ENSP00000324127:p.Asp626His					PSD3_uc003wyy.2_Missense_Mutation_p.D92H|PSD3_uc003wyz.2_5'UTR	p.D626H	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	6	1979	-			626			SEC7.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.1876G>C	CCDS43720.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.369152|4.369152	0.82463|0.82463	.|.	.|.	ENSG00000156011|ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000523619;ENST00000519851|ENST00000520858;ENST00000521027	T;T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63;0.63|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.110780|.	0.64402|.	D|.	0.000008|.	D|.	0.83815|.	0.5336|.	M|M	0.87900|0.87900	2.915|2.915	0.45139|0.45139	D|D	0.998151|0.998151	P;P|.	0.51791|.	0.948;0.465|.	P;B|.	0.57620|.	0.824;0.289|.	D|.	0.84896|.	0.0839|.	10|.	0.62326|.	D|.	0.03|.	.|.	18.1532|18.1532	0.89682|0.89682	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	626;92|.	E9KL50;Q9NYI0-3|.	.;.|.	H|S	626;626;92;561;67|58;73	ENSP00000324127:D626H;ENSP00000401704:D626H;ENSP00000286485:D92H;ENSP00000430640:D561H;ENSP00000429069:D67H|.	ENSP00000286485:D92H|.	D|X	-|-	1|2	0|2	PSD3|PSD3	18706346|18706346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.252000|5.252000	0.65445|0.65445	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAT|TGA		PASS	0.343	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		24	83	24	83	---	---	---	---
LGI3	203190	broad.mit.edu	37	8	22006032	22006032	+	Missense_Mutation	SNP	G	G	C	rs531970563		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:22006032G>C	ENST00000306317.2	-	8	1577	c.1288C>G	c.(1288-1290)Cgt>Ggt	p.R430G	LGI3_ENST00000424267.2_Missense_Mutation_p.R406G	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	430					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)	p.R430G(1)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGGCCGGCACGAAAGTGTTTC	0.632																																						uc003xav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1288-1290)CGT>GGT		leucine-rich repeat LGI family, member 3							64.0	53.0	57.0					8																	22006032		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22006032G>C	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1288C>G	8.37:g.22006032G>C	ENSP00000302297:p.Arg430Gly					LGI3_uc010ltu.2_Missense_Mutation_p.R406G	p.R430G	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1577	-			430			EAR 5.		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.1288C>G	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169811	0.57584	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.80738	-1.41;-1.41	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);	0.071557	0.64402	D	0.000009	T	0.76499	0.3996	L	0.29908	0.895	0.34210	D	0.674226	P;P	0.52170	0.951;0.905	P;P	0.50192	0.634;0.482	T	0.83269	-0.0044	10	0.52906	T	0.07	-13.3407	11.3377	0.49513	0.0:0.0:0.8185:0.1815	.	406;430	A5PLP2;Q8N145	.;LGI3_HUMAN	G	430;406	ENSP00000302297:R430G;ENSP00000399121:R406G	ENSP00000302297:R430G	R	-	1	0	LGI3	22061977	1.000000	0.71417	0.983000	0.44433	0.913000	0.54294	3.333000	0.52090	2.396000	0.81511	0.561000	0.74099	CGT		PASS	0.632	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			5	15	5	15	---	---	---	---
POLR3D	661	broad.mit.edu	37	8	22105711	22105711	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:22105711C>G	ENST00000397802.4	+	4	621	c.406C>G	c.(406-408)Cat>Gat	p.H136D	POLR3D_ENST00000306433.4_Missense_Mutation_p.H136D			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	136					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.H136D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGGACCTTCTCATATCATCAA	0.483																																						uc003xbl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(406-408)CAT>GAT		polymerase (RNA) III (DNA directed) polypeptide							101.0	98.0	99.0					8																	22105711		2203	4300	6503	SO:0001583	missense	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22105711C>G	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.406C>G	8.37:g.22105711C>G	ENSP00000380904:p.His136Asp					POLR3D_uc003xbm.2_Missense_Mutation_p.H136D|POLR3D_uc011kze.1_Intron	p.H136D	NM_001722	NP_001713	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	5	489	+			136					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	ENST00000397802.4	37	c.406C>G	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965508	0.53507	.	.	ENSG00000168495	ENST00000306433;ENST00000519237;ENST00000397802	.	.	.	5.74	5.74	0.90152	.	0.047601	0.85682	D	0.000000	T	0.51007	0.1649	L	0.47716	1.5	0.54753	D	0.999987	P	0.44195	0.828	B	0.36289	0.221	T	0.51926	-0.8643	9	0.34782	T	0.22	-16.1205	18.7009	0.91620	0.0:1.0:0.0:0.0	.	136	P05423	RPC4_HUMAN	D	136	.	ENSP00000303088:H136D	H	+	1	0	POLR3D	22161656	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.476000	0.81055	2.695000	0.91970	0.655000	0.94253	CAT		PASS	0.483	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		24	125	24	125	---	---	---	---
SLC39A14	23516	broad.mit.edu	37	8	22272336	22272336	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:22272336C>G	ENST00000381237.1	+	5	790	c.671C>G	c.(670-672)tCt>tGt	p.S224C	SLC39A14_ENST00000359741.5_Missense_Mutation_p.S224C|SLC39A14_ENST00000289952.5_Missense_Mutation_p.S224C|SLC39A14_ENST00000240095.6_Missense_Mutation_p.S224C	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	224					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)	p.S224C(2)		NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GTCTCCAAGTCTGCAGTGGTG	0.383																																						uc003xbq.3																			2	Substitution - Missense(2)		lung(2)		0						c.(670-672)TCT>TGT		solute carrier family 39 (zinc transporter),							113.0	111.0	112.0					8																	22272336		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22272336C>G	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.671C>G	8.37:g.22272336C>G	ENSP00000370635:p.Ser224Cys					SLC39A14_uc011kzg.1_Missense_Mutation_p.S224C|SLC39A14_uc003xbp.3_Missense_Mutation_p.S224C|SLC39A14_uc011kzh.1_Missense_Mutation_p.S224C	p.S224C	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	5	846	+			224			Extracellular (Potential).		A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.671C>G	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696644	0.88830	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952;ENST00000517370	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	L	0.41573	1.285	0.80722	D	1	P;D;D	0.89917	0.544;1.0;0.999	B;D;D	0.74674	0.17;0.984;0.984	T	0.62590	-0.6822	10	0.62326	D	0.03	-22.5084	18.5343	0.91004	0.0:1.0:0.0:0.0	.	224;224;224	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	C	224;224;224;224;47	ENSP00000352779:S224C;ENSP00000240095:S224C;ENSP00000370635:S224C;ENSP00000289952:S224C;ENSP00000427981:S47C	ENSP00000240095:S224C	S	+	2	0	SLC39A14	22328281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.753000	0.85153	2.653000	0.90120	0.563000	0.77884	TCT		PASS	0.383	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		17	236	17	236	---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25899692	25899692	+	Silent	SNP	G	G	A	rs537378469		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:25899692G>A	ENST00000520164.1	-	2	744	c.207C>T	c.(205-207)ttC>ttT	p.F69F	EBF2_ENST00000408929.3_5'Flank	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	69					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F69F(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCGCCAGGACGAAGTGAAAGA	0.577																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(205-207)TTC>TTT		early B-cell factor 2							69.0	78.0	75.0					8																	25899692		2183	4296	6479	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25899692G>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.207C>T	8.37:g.25899692G>A						PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Silent_p.F69F	p.F69F	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	2	224	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	69					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.207C>T	CCDS43726.1																																																																																				PASS	0.577	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		23	61	23	61	---	---	---	---
EPHX2	2053	broad.mit.edu	37	8	27361127	27361127	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:27361127C>A	ENST00000521400.1	+	3	623	c.193C>A	c.(193-195)Cca>Aca	p.P65T	EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000518379.1_Missense_Mutation_p.P65T|EPHX2_ENST00000380476.3_Missense_Mutation_p.P12T|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_5'UTR	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	65	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.P65T(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		ACAGTGGATACCACTCATGGA	0.448																																						uc003xfu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(193-195)CCA>ACA		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						26.0	27.0	27.0					8																	27361127		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27361127C>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.193C>A	8.37:g.27361127C>A	ENSP00000430269:p.Pro65Thr					EPHX2_uc010lut.1_Missense_Mutation_p.P65T|EPHX2_uc010luu.2_Missense_Mutation_p.P65T|EPHX2_uc010luv.2_5'UTR|EPHX2_uc003xfv.2_Missense_Mutation_p.P12T|EPHX2_uc010luw.2_5'UTR|EPHX2_uc011lam.1_5'Flank	p.P65T	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	3	274	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	65			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.193C>A	CCDS6060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.29|17.29	3.353136|3.353136	0.61293|0.61293	.|.	.|.	ENSG00000120915|ENSG00000120915	ENST00000521400;ENST00000518328;ENST00000380476;ENST00000415449;ENST00000518379|ENST00000521684	T;T;T;T|.	0.08984|.	3.03;3.03;3.03;3.03|.	5.4|5.4	3.48|3.48	0.39840|0.39840	Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);|.	0.283150|.	0.39985|.	N|.	0.001203|.	T|.	0.57607|.	0.2065|.	L|L	0.54323|0.54323	1.7|1.7	0.47621|0.47621	D|D	0.999476|0.999476	B;B;B|.	0.29988|.	0.11;0.264;0.069|.	B;B;B|.	0.36092|.	0.217;0.2;0.052|.	T|.	0.51647|.	-0.8679|.	10|.	0.52906|.	T|.	0.07|.	-11.3476|-11.3476	7.8947|7.8947	0.29699|0.29699	0.0:0.7928:0.0:0.2072|0.0:0.7928:0.0:0.2072	.|.	65;65;65|.	E5RFU2;E7ETW9;P34913|.	.;.;HYES_HUMAN|.	T|X	65;65;12;65;65|64	ENSP00000430269:P65T;ENSP00000430779:P65T;ENSP00000369843:P12T;ENSP00000427956:P65T|.	ENSP00000369843:P12T|.	P|Y	+|+	1|3	0|2	EPHX2|EPHX2	27417044|27417044	0.727000|0.727000	0.28069|0.28069	0.531000|0.531000	0.27976|0.27976	0.874000|0.874000	0.50279|0.50279	0.824000|0.824000	0.27379|0.27379	0.659000|0.659000	0.30945|0.30945	0.650000|0.650000	0.86243|0.86243	CCA|TAC		PASS	0.448	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			4	24	4	24	---	---	---	---
FUT10	84750	broad.mit.edu	37	8	33246663	33246663	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:33246663C>G	ENST00000327671.5	-	4	1661	c.1030G>C	c.(1030-1032)Gac>Cac	p.D344H	FUT10_ENST00000518672.1_Missense_Mutation_p.D316H|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.D282H|FUT10_ENST00000524021.1_Missense_Mutation_p.D316H	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	344					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.D344H(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TACAATCTGTCATCAGAATCC	0.463																																						uc003xje.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1030-1032)GAC>CAC		fucosyltransferase 10							126.0	114.0	118.0					8																	33246663		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33246663C>G	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.1030G>C	8.37:g.33246663C>G	ENSP00000332757:p.Asp344His					FUT10_uc003xjc.2_Missense_Mutation_p.D351H|FUT10_uc003xjd.2_Missense_Mutation_p.D316H|FUT10_uc011lbi.1_Missense_Mutation_p.D394H|FUT10_uc003xjf.2_Missense_Mutation_p.D282H|FUT10_uc003xjg.2_Missense_Mutation_p.D316H|FUT10_uc003xjh.2_Missense_Mutation_p.D344H	p.D344H	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	4	1386	-			344			Lumenal (Potential).		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.1030G>C	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451118	0.43531	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.32272	1.46;1.46;1.46;1.55	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.77820	2.39	0.80722	D	1	D;P;D;P;D;P	0.59767	0.986;0.946;0.986;0.711;0.986;0.89	P;P;P;P;P;P	0.59825	0.796;0.726;0.864;0.637;0.856;0.735	T	0.54516	-0.8282	10	0.45353	T	0.12	-7.0631	16.2136	0.82186	0.0:1.0:0.0:0.0	.	394;344;316;282;344;386	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	H	344;386;316;316;282	ENSP00000332757:D344H;ENSP00000430428:D316H;ENSP00000429870:D316H;ENSP00000334997:D282H	ENSP00000332757:D344H	D	-	1	0	FUT10	33366205	1.000000	0.71417	0.646000	0.29493	0.018000	0.09664	7.776000	0.85560	2.493000	0.84123	0.557000	0.71058	GAC		PASS	0.463	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		28	99	28	99	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38187168	38187168	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:38187168C>G	ENST00000317025.8	-	6	1826	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.E437Q|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E437Q|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E437Q	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	437					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E437Q(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GAGGCCACCTCCCCTGCATTG	0.502			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1309-1311)GAG>CAG		WHSC1L1 protein isoform long							108.0	101.0	103.0					8																	38187168		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38187168C>G	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1309G>C	8.37:g.38187168C>G	ENSP00000313983:p.Glu437Gln					WHSC1L1_uc011lbm.1_Missense_Mutation_p.E437Q|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E437Q|WHSC1L1_uc003xlj.2_Missense_Mutation_p.E437Q	p.E437Q	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		6	1827	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	437					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.1309G>C	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686341	0.47991	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;T	0.95103	-3.6;-3.61;-3.61;-0.11	5.6	5.6	0.85130	.	0.000000	0.42682	U	0.000673	D	0.87573	0.6211	N	0.22421	0.69	0.32637	N	0.521183	B;B;P;B	0.42692	0.201;0.302;0.787;0.201	B;B;B;B	0.38327	0.068;0.143;0.271;0.068	D	0.87342	0.2332	10	0.22109	T	0.4	.	8.9569	0.35823	0.1483:0.7749:0.0:0.0768	.	437;437;437;437	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	Q	437;437;374;437;437	ENSP00000393284:E437Q;ENSP00000313983:E437Q;ENSP00000434730:E437Q;ENSP00000313410:E437Q	ENSP00000313410:E437Q	E	-	1	0	WHSC1L1	38306325	0.727000	0.28069	0.999000	0.59377	0.923000	0.55619	3.407000	0.52644	2.634000	0.89283	0.650000	0.86243	GAG		PASS	0.502	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		18	169	18	169	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41591515	41591515	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:41591515C>G	ENST00000347528.4	-	3	285	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	ANK1_ENST00000289734.7_Missense_Mutation_p.E68Q|ANK1_ENST00000352337.4_Missense_Mutation_p.E68Q|ANK1_ENST00000379758.2_Missense_Mutation_p.E68Q|ANK1_ENST00000265709.8_Missense_Mutation_p.E101Q|ANK1_ENST00000396942.1_Missense_Mutation_p.E68Q|ANK1_ENST00000396945.1_Missense_Mutation_p.E68Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	68	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E101Q(1)|p.E68Q(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGAATGATTTCTTTGTGCAGA	0.463																																						uc003xok.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(202-204)GAA>CAA		ankyrin 1 isoform 1							201.0	175.0	184.0					8																	41591515		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41591515C>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.202G>C	8.37:g.41591515C>G	ENSP00000339620:p.Glu68Gln					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.E68Q|ANK1_uc003xoj.2_Missense_Mutation_p.E68Q|ANK1_uc003xol.2_Missense_Mutation_p.E68Q|ANK1_uc003xom.2_Missense_Mutation_p.E101Q	p.E68Q	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		3	286	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	68			ANK 1.|89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.202G>C	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626815	0.87560	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.37	5.37	0.77165	Ankyrin repeat-containing domain (3);	0.122569	0.53938	D	0.000046	T	0.63792	0.2541	N	0.12182	0.205	0.42578	D	0.993202	D;P;D;B;D	0.60160	0.974;0.848;0.963;0.36;0.987	P;P;P;B;P	0.61275	0.886;0.772;0.761;0.239;0.886	T	0.70096	-0.4966	10	0.54805	T	0.06	.	19.0943	0.93244	0.0:1.0:0.0:0.0	.	101;68;68;68;68	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	Q	68;68;68;68;68;68;101;68	ENSP00000339620:E68Q;ENSP00000289734:E68Q;ENSP00000369082:E68Q;ENSP00000380149:E68Q;ENSP00000380147:E68Q;ENSP00000309131:E68Q;ENSP00000265709:E101Q	ENSP00000265709:E101Q	E	-	1	0	ANK1	41710672	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.061000	0.71148	2.512000	0.84698	0.561000	0.74099	GAA		PASS	0.463	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		10	192	10	192	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41834549	41834549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:41834549G>C	ENST00000396930.3	-	8	1883	c.1340C>G	c.(1339-1341)tCa>tGa	p.S447*	KAT6A_ENST00000406337.1_Nonsense_Mutation_p.S447*|KAT6A_ENST00000485568.1_Nonsense_Mutation_p.S447*|KAT6A_ENST00000265713.2_Nonsense_Mutation_p.S447*	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	447	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S447*(1)									TGAAGTGCTTGATTTCCTGTT	0.418																																						uc010lxb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1339-1341)TCA>TGA		MYST histone acetyltransferase (monocytic							119.0	115.0	117.0					8																	41834549		2203	4300	6503	SO:0001587	stop_gained	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41834549G>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1340C>G	8.37:g.41834549G>C	ENSP00000380136:p.Ser447*					MYST3_uc010lxc.2_Nonsense_Mutation_p.S447*|MYST3_uc003xon.3_Nonsense_Mutation_p.S447*|MYST3_uc010lxd.2_Nonsense_Mutation_p.S447*	p.S447*	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		8	1884	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	447			Interaction with RUNX1-1.		Q76L81	Nonsense_Mutation	SNP	ENST00000396930.3	37	c.1340C>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	44	10.549401	0.99425	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	.	.	.	5.37	5.37	0.77165	.	0.299800	0.28544	N	0.014961	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-1.8399	19.1629	0.93541	0.0:0.0:1.0:0.0	.	.	.	.	X	447	.	ENSP00000265713:S447X	S	-	2	0	KAT6A	41953706	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.778000	0.75043	2.515000	0.84797	0.650000	0.86243	TCA		PASS	0.418	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		18	111	18	111	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41834802	41834802	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:41834802C>A	ENST00000396930.3	-	8	1630	c.1087G>T	c.(1087-1089)Ggt>Tgt	p.G363C	KAT6A_ENST00000406337.1_Missense_Mutation_p.G363C|KAT6A_ENST00000485568.1_Missense_Mutation_p.G363C|KAT6A_ENST00000265713.2_Missense_Mutation_p.G363C	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	363	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G363C(1)									CGTTTCCTACCCCTTCCAGGG	0.413																																						uc010lxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1087-1089)GGT>TGT		MYST histone acetyltransferase (monocytic							112.0	101.0	105.0					8																	41834802		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41834802C>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1087G>T	8.37:g.41834802C>A	ENSP00000380136:p.Gly363Cys					MYST3_uc010lxc.2_Missense_Mutation_p.G363C|MYST3_uc003xon.3_Missense_Mutation_p.G363C|MYST3_uc010lxd.2_Missense_Mutation_p.G363C	p.G363C	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		8	1631	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	363			Interaction with RUNX1-1.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.1087G>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605366	0.46423	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.85171	0.05;0.05;0.05;-1.95	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	D	0.89684	0.6786	L	0.39898	1.24	0.50813	D	0.999894	D;D	0.89917	0.998;1.0	P;D	0.73380	0.87;0.98	D	0.90685	0.4608	10	0.87932	D	0	-20.1541	19.1648	0.93551	0.0:1.0:0.0:0.0	.	363;363	A5PLL3;Q92794	.;KAT6A_HUMAN	C	363	ENSP00000265713:G363C;ENSP00000385888:G363C;ENSP00000380136:G363C;ENSP00000430606:G363C	ENSP00000265713:G363C	G	-	1	0	KAT6A	41953959	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.186000	0.72026	2.505000	0.84491	0.650000	0.86243	GGT		PASS	0.413	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		28	112	28	112	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41838388	41838388	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:41838388G>C	ENST00000396930.3	-	6	1426	c.883C>G	c.(883-885)Ccg>Gcg	p.P295A	KAT6A_ENST00000406337.1_Missense_Mutation_p.P295A|KAT6A_ENST00000485568.1_Missense_Mutation_p.P295A|KAT6A_ENST00000265713.2_Missense_Mutation_p.P295A	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	295	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P295A(1)									GTGAGTGGCGGATCACAACAC	0.368																																						uc010lxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(883-885)CCG>GCG		MYST histone acetyltransferase (monocytic							161.0	164.0	163.0					8																	41838388		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41838388G>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.883C>G	8.37:g.41838388G>C	ENSP00000380136:p.Pro295Ala					MYST3_uc010lxc.2_Missense_Mutation_p.P295A|MYST3_uc003xon.3_Missense_Mutation_p.P295A|MYST3_uc010lxd.2_Missense_Mutation_p.P295A	p.P295A	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		6	1427	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	295			PHD-type 2.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.883C>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830727	0.50845	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.89415	-2.5;-2.5;-2.5;-2.51	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000002	D	0.95661	0.8589	M	0.90814	3.15	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.80764	0.994;0.992	D	0.96248	0.9181	10	0.87932	D	0	-16.7089	19.205	0.93726	0.0:0.0:1.0:0.0	.	295;295	A5PLL3;Q92794	.;KAT6A_HUMAN	A	295	ENSP00000265713:P295A;ENSP00000385888:P295A;ENSP00000380136:P295A;ENSP00000430606:P295A	ENSP00000265713:P295A	P	-	1	0	KAT6A	41957545	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.420000	0.97426	2.596000	0.87737	0.563000	0.77884	CCG		PASS	0.368	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		53	223	53	223	---	---	---	---
SNAI2	6591	broad.mit.edu	37	8	49832466	49832466	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:49832466C>T	ENST00000396822.1	-	3	971	c.614G>A	c.(613-615)aGa>aAa	p.R205K	SNAI2_ENST00000020945.1_Missense_Mutation_p.R205K			O43623	SNAI2_HUMAN	snail family zinc finger 2	205					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.R205K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CGTGTGAGTTCTAATGTGTCC	0.483																																						uc003xqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(613-615)AGA>AAA		snail 2							92.0	99.0	97.0					8																	49832466		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832466C>T	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.614G>A	8.37:g.49832466C>T	ENSP00000380034:p.Arg205Lys						p.R205K	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	778	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	205			C2H2-type 3.		B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.614G>A	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616162	0.87359	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.18338	2.22;2.22	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	N	0.17800	0.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13150	-1.0520	10	0.66056	D	0.02	-9.2414	19.0431	0.93010	0.0:1.0:0.0:0.0	.	205	O43623	SNAI2_HUMAN	K	205	ENSP00000020945:R205K;ENSP00000380034:R205K	ENSP00000020945:R205K	R	-	2	0	SNAI2	49995019	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.487000	0.81328	2.505000	0.84491	0.655000	0.94253	AGA		PASS	0.483	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		26	110	26	110	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55541287	55541287	+	Silent	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:55541287C>A	ENST00000220676.1	+	4	4993	c.4845C>A	c.(4843-4845)ggC>ggA	p.G1615G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1615					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.G1615G(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGACAGTGGCGAACTTACCC	0.398																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(4843-4845)GGC>GGA		retinitis pigmentosa RP1 protein							72.0	72.0	72.0					8																	55541287		2203	4299	6502	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541287C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4845C>A	8.37:g.55541287C>A						RP1_uc011ldy.1_Intron	p.G1615G	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4993	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1615						Silent	SNP	ENST00000220676.1	37	c.4845C>A	CCDS6160.1																																																																																				PASS	0.398	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		27	115	27	115	---	---	---	---
TMEM68	137695	broad.mit.edu	37	8	56663694	56663694	+	Silent	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:56663694C>A	ENST00000434581.2	-	5	715	c.516G>T	c.(514-516)gtG>gtT	p.V172V	TMEM68_ENST00000519784.1_Silent_p.V58V|TMEM68_ENST00000334667.2_Silent_p.V172V|TMEM68_ENST00000523073.1_Silent_p.V58V			Q96MH6	TMM68_HUMAN	transmembrane protein 68	172						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)	p.V172V(1)		NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			GAGCACAAAACACATCCAGTA	0.353																																						uc003xsg.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(514-516)GTG>GTT		transmembrane protein 68							78.0	79.0	79.0					8																	56663694		2203	4300	6503	SO:0001819	synonymous_variant	137695					integral to membrane	acyltransferase activity	g.chr8:56663694C>A	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.516G>T	8.37:g.56663694C>A						TMEM68_uc003xsh.1_Silent_p.V172V	p.V172V	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		3	585	-			172					Q658X6|Q8WUD2	Silent	SNP	ENST00000434581.2	37	c.516G>T																																																																																					PASS	0.353	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		14	114	14	114	---	---	---	---
MOS	4342	broad.mit.edu	37	8	57025860	57025860	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:57025860C>G	ENST00000311923.1	-	1	681	c.682G>C	c.(682-684)Gat>Cat	p.D228H		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.D228H(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CACAGCAGATCTTCCAACTTC	0.542																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(682-684)GAT>CAT		v-mos Moloney murine sarcoma viral oncogene							70.0	76.0	74.0					8																	57025860		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025860C>G		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.682G>C	8.37:g.57025860C>G	ENSP00000310722:p.Asp228His						p.D228H	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	682	-			228			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.682G>C	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499150	0.26861	.	.	ENSG00000172680	ENST00000311923	D	0.93712	-3.27	5.8	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.473066	0.23500	N	0.047503	D	0.94624	0.8267	L	0.45228	1.405	0.09310	N	1	D	0.71674	0.998	D	0.72075	0.976	D	0.88617	0.3160	10	0.87932	D	0	.	13.405	0.60908	0.0:0.873:0.0:0.127	.	228	P00540	MOS_HUMAN	H	228	ENSP00000310722:D228H	ENSP00000310722:D228H	D	-	1	0	MOS	57188414	0.001000	0.12720	0.010000	0.14722	0.158000	0.22134	0.773000	0.26661	2.758000	0.94735	0.561000	0.74099	GAT		PASS	0.542	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		21	72	21	72	---	---	---	---
MOS	4342	broad.mit.edu	37	8	57025872	57025872	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:57025872C>G	ENST00000311923.1	-	1	669	c.670G>C	c.(670-672)Gag>Cag	p.E224Q		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.E224Q(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TCCAACTTCTCAGAGCAACCG	0.542																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(670-672)GAG>CAG		v-mos Moloney murine sarcoma viral oncogene							69.0	74.0	72.0					8																	57025872		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025872C>G		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.670G>C	8.37:g.57025872C>G	ENSP00000310722:p.Glu224Gln						p.E224Q	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	670	-			224			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.670G>C	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006451	0.00426	.	.	ENSG00000172680	ENST00000311923	D	0.93247	-3.19	5.8	0.373	0.16178	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.493752	0.20572	N	0.089706	D	0.83903	0.5355	N	0.04260	-0.245	0.09310	N	0.999997	B	0.16802	0.019	B	0.24006	0.05	T	0.60409	-0.7269	10	0.02654	T	1	.	22.3018	0.99969	0.0:0.1771:0.8229:0.0	.	224	P00540	MOS_HUMAN	Q	224	ENSP00000310722:E224Q	ENSP00000310722:E224Q	E	-	1	0	MOS	57188426	0.897000	0.30589	0.080000	0.20451	0.165000	0.22458	1.763000	0.38461	0.046000	0.15833	-0.304000	0.09214	GAG		PASS	0.542	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		12	75	12	75	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68151048	68151048	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:68151048C>G	ENST00000262215.3	-	21	3449	c.3060G>C	c.(3058-3060)caG>caC	p.Q1020H	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q474H|ARFGEF1_ENST00000518230.1_5'Flank	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1020					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.Q1020H(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAATGTTCTTCTGTTTCATTT	0.353																																						uc003xxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(3058-3060)CAG>CAC		brefeldin A-inhibited guanine							197.0	175.0	183.0					8																	68151048		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68151048C>G	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3060G>C	8.37:g.68151048C>G	ENSP00000262215:p.Gln1020His					ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q474H|ARFGEF1_uc003xxn.1_Missense_Mutation_p.Q3H	p.Q1020H	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		21	3450	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1020					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3060G>C	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201807	0.58234	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.52295	0.67;0.67	5.32	2.43	0.29744	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	M	0.62088	1.915	0.80722	D	1	D;P;D	0.60575	0.988;0.944;0.98	P;P;P	0.59703	0.862;0.593;0.593	T	0.57412	-0.7816	10	0.66056	D	0.02	.	10.0989	0.42493	0.0:0.7716:0.0:0.2284	.	1020;498;474	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	H	474;1020	ENSP00000428429:Q474H;ENSP00000262215:Q1020H	ENSP00000262215:Q1020H	Q	-	3	2	ARFGEF1	68313602	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.724000	0.47285	0.270000	0.21984	-0.355000	0.07637	CAG		PASS	0.353	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		23	98	23	98	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70591617	70591617	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:70591617G>T	ENST00000260126.4	-	8	2726	c.2020C>A	c.(2020-2022)Ctc>Atc	p.L674I	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L619I|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L674I	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	674						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L674I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTCACCTGAGTGTTACTATG	0.423																																						uc003xyl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2020-2022)CTC>ATC		solute carrier organic anion transporter family,							200.0	194.0	196.0					8																	70591617		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70591617G>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2020C>A	8.37:g.70591617G>T	ENSP00000260126:p.Leu674Ile					SLCO5A1_uc010lzb.2_Missense_Mutation_p.L619I|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.L674I	p.L674I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		8	2727	-	Breast(64;0.0654)		674			Helical; Name=10; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.2020C>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884419	0.72410	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.57436	0.4;0.4;0.4	5.46	5.46	0.80206	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.069683	0.64402	D	0.000017	T	0.66674	0.2813	L	0.39397	1.21	0.58432	D	0.999999	P;P;D	0.89917	0.91;0.727;1.0	P;B;D	0.87578	0.795;0.338;0.998	T	0.66184	-0.5987	10	0.49607	T	0.09	.	19.311	0.94187	0.0:0.0:1.0:0.0	.	619;674;674	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	I	674;674;619	ENSP00000260126:L674I;ENSP00000434422:L674I;ENSP00000431611:L619I	ENSP00000260126:L674I	L	-	1	0	SLCO5A1	70754171	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	9.795000	0.99099	2.550000	0.86006	0.655000	0.94253	CTC		PASS	0.423	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		38	177	38	177	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70744042	70744042	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:70744042T>C	ENST00000260126.4	-	2	1573	c.867A>G	c.(865-867)ttA>ttG	p.L289L	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Silent_p.L289L|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.L289L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L289L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CATTGTCATCTAAGTAGGTTG	0.418																																						uc003xyl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(865-867)TTA>TTG		solute carrier organic anion transporter family,							111.0	110.0	110.0					8																	70744042		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744042T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.867A>G	8.37:g.70744042T>C						SLCO5A1_uc010lzb.2_Silent_p.L289L|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.L289L|SLCO5A1_uc010lzc.2_Silent_p.L289L	p.L289L	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1574	-	Breast(64;0.0654)		289			Helical; Name=4; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.867A>G	CCDS6205.1																																																																																				PASS	0.418	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		32	131	32	131	---	---	---	---
SBSPON	157869	broad.mit.edu	37	8	73979610	73979610	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:73979610G>C	ENST00000297354.6	-	5	965	c.761C>G	c.(760-762)tCt>tGt	p.S254C	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	254					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.S249C(1)									AGCTGGACAAGAACACTGGTC	0.353																																						uc003xzf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)TCT>TGT		RPE-spondin precursor							92.0	87.0	89.0					8																	73979610		1829	4082	5911	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73979610G>C		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.761C>G	8.37:g.73979610G>C	ENSP00000297354:p.Ser254Cys						p.S254C	NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN			5	966	-			254					A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.761C>G	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038406	0.75617	.	.	ENSG00000164764	ENST00000297354	T	0.27104	1.69	5.79	5.79	0.91817	.	0.381500	0.30565	N	0.009358	T	0.53578	0.1805	M	0.73962	2.25	0.48511	D	0.99966	D	0.89917	1.0	D	0.69479	0.964	T	0.53968	-0.8363	10	0.72032	D	0.01	-8.6861	19.6818	0.95967	0.0:0.0:1.0:0.0	.	254	Q8IVN8	RPESP_HUMAN	C	254	ENSP00000297354:S254C	ENSP00000297354:S254C	S	-	2	0	C8orf84	74142164	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.417000	0.73337	2.740000	0.93945	0.644000	0.83932	TCT		PASS	0.353	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		51	105	51	105	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87616376	87616376	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:87616376C>G	ENST00000320005.5	-	15	1773	c.1726G>C	c.(1726-1728)Gat>Cat	p.D576H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	576					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.D576H(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						TTAGTACCATCAGGGCCTCCA	0.373																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1726-1728)GAT>CAT		cyclic nucleotide gated channel beta 3							76.0	75.0	76.0					8																	87616376		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87616376C>G	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.1726G>C	8.37:g.87616376C>G	ENSP00000316605:p.Asp576His					CNGB3_uc010maj.2_Missense_Mutation_p.D438H	p.D576H	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			15	1772	-			576			Cytoplasmic (Potential).|cGMP (By similarity).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1726G>C	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524538	0.85600	.	.	ENSG00000170289	ENST00000320005	D	0.97279	-4.32	5.97	5.97	0.96955	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	L	0.58669	1.825	0.80722	D	1	P;P	0.51240	0.929;0.943	P;P	0.57548	0.729;0.823	D	0.98038	1.0380	10	0.87932	D	0	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	576;576	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	H	576	ENSP00000316605:D576H	ENSP00000316605:D576H	D	-	1	0	CNGB3	87685492	1.000000	0.71417	0.828000	0.32881	0.738000	0.42128	4.807000	0.62576	2.837000	0.97791	0.655000	0.94253	GAT		PASS	0.373	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		27	99	27	99	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87656908	87656908	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:87656908A>T	ENST00000320005.5	-	9	1044	c.997T>A	c.(997-999)Tca>Aca	p.S333T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	333					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.S333T(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						TCAAAAAATGAAGTGTACTAT	0.264																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(997-999)TCA>ACA		cyclic nucleotide gated channel beta 3							53.0	52.0	52.0					8																	87656908		2197	4290	6487	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87656908A>T	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.997T>A	8.37:g.87656908A>T	ENSP00000316605:p.Ser333Thr					CNGB3_uc010maj.2_Missense_Mutation_p.S195T	p.S333T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			9	1043	-			333			Extracellular (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.997T>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	9.872	1.199165	0.22121	.	.	ENSG00000170289	ENST00000320005	T	0.54071	0.59	6.03	4.84	0.62591	.	0.221341	0.37095	N	0.002244	T	0.38453	0.1041	N	0.16478	0.41	0.43263	D	0.9952	B;B	0.26195	0.144;0.094	B;B	0.38683	0.279;0.206	T	0.17501	-1.0367	10	0.08837	T	0.75	.	10.3985	0.44216	0.78:0.0:0.0:0.22	.	333;333	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	T	333	ENSP00000316605:S333T	ENSP00000316605:S333T	S	-	1	0	CNGB3	87726024	0.927000	0.31430	0.998000	0.56505	0.817000	0.46193	1.043000	0.30316	2.302000	0.77476	0.533000	0.62120	TCA		PASS	0.264	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		19	96	19	96	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	92982954	92982954	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:92982954C>T	ENST00000523629.1	-	11	1925	c.1471G>A	c.(1471-1473)Gcc>Acc	p.A491T	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A464T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A464T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A454T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A491T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A454T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A454T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A502T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	491					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A491T(2)|p.A454T(2)|p.A502T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTGGCCTCGGCGACCGTGCGC	0.602																																						uc003yfd.2																			5	Substitution - Missense(5)		lung(3)|large_intestine(2)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1471-1473)GCC>ACC		acute myelogenous leukemia 1 translocation 1							71.0	61.0	64.0					8																	92982954		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92982954C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1471G>A	8.37:g.92982954C>T	ENSP00000428543:p.Ala491Thr					RUNX1T1_uc003yfc.1_Missense_Mutation_p.A464T|RUNX1T1_uc003yfe.1_Missense_Mutation_p.A454T|RUNX1T1_uc010mao.2_Missense_Mutation_p.A464T|RUNX1T1_uc011lgi.1_Missense_Mutation_p.A502T|RUNX1T1_uc010man.1_Missense_Mutation_p.A116T|RUNX1T1_uc003yfb.1_Missense_Mutation_p.A454T	p.A491T	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		10	1555	-			491					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1471G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157358	0.94686	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.83603	2.65	0.58432	D	0.999996	D;D;D;D	0.67145	0.994;0.996;0.995;0.984	P;P;P;P	0.62184	0.82;0.899;0.838;0.773	T	0.68062	-0.5508	10	0.48119	T	0.1	-15.9301	19.9981	0.97395	0.0:1.0:0.0:0.0	.	502;454;491;464	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	T	491;464;491;454;454;454;502;464	ENSP00000428543:A491T;ENSP00000379520:A464T;ENSP00000265814:A491T;ENSP00000353504:A454T;ENSP00000390137:A454T;ENSP00000428742:A454T;ENSP00000402257:A502T;ENSP00000430728:A464T	ENSP00000265814:A491T	A	-	1	0	RUNX1T1	93052130	1.000000	0.71417	0.954000	0.39281	0.838000	0.47535	5.999000	0.70665	2.729000	0.93468	0.655000	0.94253	GCC		PASS	0.602	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		21	35	21	35	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95503956	95503956	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:95503956C>G	ENST00000297591.5	-	22	5065	c.4990G>C	c.(4990-4992)Gaa>Caa	p.E1664Q	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1664					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E1664Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GGAACCACTTCTTTACTTTCA	0.443																																						uc003ygo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4990-4992)GAA>CAA		hypothetical protein LOC25962 isoform 1							191.0	172.0	179.0					8																	95503956		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95503956C>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4990G>C	8.37:g.95503956C>G	ENSP00000297591:p.Glu1664Gln					KIAA1429_uc010maz.1_Intron	p.E1664Q	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		22	5003	-	Breast(36;3.29e-05)		1664					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4990G>C	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330432	0.81690	.	.	ENSG00000164944	ENST00000297591	T	0.44482	0.92	5.36	5.36	0.76844	.	0.052201	0.85682	D	0.000000	T	0.42630	0.1211	N	0.19112	0.55	0.80722	D	1	D	0.61697	0.99	P	0.53313	0.723	T	0.19877	-1.0292	10	0.28530	T	0.3	-16.3353	19.0895	0.93221	0.0:1.0:0.0:0.0	.	1664	Q69YN4	VIR_HUMAN	Q	1664	ENSP00000297591:E1664Q	ENSP00000297591:E1664Q	E	-	1	0	KIAA1429	95573132	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.521000	0.84997	0.650000	0.86243	GAA		PASS	0.443	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		36	206	36	206	---	---	---	---
C8orf37	157657	broad.mit.edu	37	8	96275974	96275974	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:96275974C>G	ENST00000286688.5	-	2	195	c.184G>C	c.(184-186)Gat>Cat	p.D62H		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	62						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.D62H(1)		kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CTGTCAAGATCATCTTCTTTT	0.318																																						uc003yho.1																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)GAT>CAT		hypothetical protein LOC157657							84.0	86.0	85.0					8																	96275974		2201	4292	6493	SO:0001583	missense	157657							g.chr8:96275974C>G	AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.184G>C	8.37:g.96275974C>G	ENSP00000286688:p.Asp62His						p.D62H	NM_177965	NP_808880	Q96NL8	CH037_HUMAN			2	204	-	Breast(36;3.41e-05)		62						Missense_Mutation	SNP	ENST00000286688.5	37	c.184G>C	CCDS6268.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789972	0.70337	.	.	ENSG00000156172	ENST00000286688	T	0.78481	-1.18	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.86322	0.5905	M	0.78049	2.395	0.45427	D	0.998405	D	0.54772	0.968	P	0.56612	0.802	D	0.87358	0.2342	10	0.72032	D	0.01	-20.7781	17.9689	0.89107	0.0:1.0:0.0:0.0	.	62	Q96NL8	CH037_HUMAN	H	62	ENSP00000286688:D62H	ENSP00000286688:D62H	D	-	1	0	C8orf37	96345150	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.230000	0.58632	2.782000	0.95742	0.655000	0.94253	GAT		PASS	0.318	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965		15	99	15	99	---	---	---	---
GDF6	392255	broad.mit.edu	37	8	97172861	97172861	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:97172861C>T	ENST00000287020.5	-	1	159	c.60G>A	c.(58-60)ttG>ttA	p.L20L		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	20					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)		p.L20L(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GGAAACCGGGCAAATCCCACA	0.637																																						uc003yhp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(58-60)TTG>TTA		growth differentiation factor 6 precursor							48.0	55.0	52.0					8																	97172861		2203	4300	6503	SO:0001819	synonymous_variant	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97172861C>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.60G>A	8.37:g.97172861C>T							p.L20L	NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN			1	160	-	Breast(36;2.67e-05)		20					Q6PI58	Silent	SNP	ENST00000287020.5	37	c.60G>A	CCDS34926.1																																																																																				PASS	0.637	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		39	66	39	66	---	---	---	---
PTDSS1	9791	broad.mit.edu	37	8	97316271	97316271	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:97316271C>T	ENST00000517309.1	+	7	1082	c.756C>T	c.(754-756)gaC>gaT	p.D252D	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Silent_p.D49D|PTDSS1_ENST00000455950.2_Silent_p.D106D	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	252					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.D252D(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTTACAGGGACATTCATACCA	0.433																																						uc003yht.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(754-756)GAC>GAT		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						152.0	146.0	148.0					8																	97316271		2203	4300	6503	SO:0001819	synonymous_variant	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97316271C>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.756C>T	8.37:g.97316271C>T						PTDSS1_uc003yhu.1_Silent_p.D106D	p.D252D	NM_014754	NP_055569	P48651	PTSS1_HUMAN			7	858	+	Breast(36;6.18e-05)		252					E5RFC5|Q9BUQ5	Silent	SNP	ENST00000517309.1	37	c.756C>T	CCDS6271.1																																																																																				PASS	0.433	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			42	271	42	271	---	---	---	---
TSPYL5	85453	broad.mit.edu	37	8	98290039	98290039	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:98290039G>T	ENST00000322128.3	-	1	137	c.34C>A	c.(34-36)Cgc>Agc	p.R12S		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	12					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.R12S(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TTTTTGGCGCGGGAGGACTTT	0.692																																						uc003yhy.2																			1	Substitution - Missense(1)	p.R12H(1)	lung(1)	large_intestine(1)|ovary(1)	2						c.(34-36)CGC>AGC		TSPY-like 5							11.0	11.0	11.0					8																	98290039		2152	4196	6348	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98290039G>T	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.34C>A	8.37:g.98290039G>T	ENSP00000322802:p.Arg12Ser						p.R12S	NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN			1	138	-	Breast(36;2.56e-06)		12					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.34C>A	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211723	0.58452	.	.	ENSG00000180543	ENST00000322128	T	0.20200	2.09	3.96	3.08	0.35506	.	0.000000	0.38381	N	0.001716	T	0.20088	0.0483	L	0.27053	0.805	0.27752	N	0.944125	D	0.56287	0.975	P	0.52627	0.704	T	0.02774	-1.1112	10	0.42905	T	0.14	-8.462	7.7636	0.28968	0.1132:0.0:0.8868:0.0	.	12	Q86VY4	TSYL5_HUMAN	S	12	ENSP00000322802:R12S	ENSP00000322802:R12S	R	-	1	0	TSPYL5	98359215	0.997000	0.39634	0.995000	0.50966	0.987000	0.75469	0.854000	0.27791	1.241000	0.43820	0.655000	0.94253	CGC		PASS	0.692	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		4	12	4	12	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100568706	100568706	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:100568706G>T	ENST00000358544.2	+	31	4960	c.4849G>T	c.(4849-4851)Gat>Tat	p.D1617Y	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D1592Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1617					protein transport (GO:0015031)			p.D1617Y(1)|p.D1592Y(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)			AATTCTTCGAGATCCTGGATC	0.358																																					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.(4849-4851)GAT>TAT		vacuolar protein sorting 13B isoform 5							62.0	58.0	59.0					8																	100568706		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100568706G>T	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.4849G>T	8.37:g.100568706G>T	ENSP00000351346:p.Asp1617Tyr					VPS13B_uc003yiw.2_Missense_Mutation_p.D1592Y	p.D1617Y	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		31	4960	+	Breast(36;3.73e-07)		1617					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4849G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818388	0.90790	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69040	-0.37;-0.37	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.80768	0.4686	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.80730	-0.1252	10	0.62326	D	0.03	.	19.8897	0.96925	0.0:0.0:1.0:0.0	.	1592;1617	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Y	1592;1617	ENSP00000349685:D1592Y;ENSP00000351346:D1617Y	ENSP00000349685:D1592Y	D	+	1	0	VPS13B	100637882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.547000	0.98100	2.709000	0.92574	0.650000	0.86243	GAT		PASS	0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		13	67	13	67	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100865863	100865863	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:100865863G>C	ENST00000358544.2	+	56	10432	c.10321G>C	c.(10321-10323)Gaa>Caa	p.E3441Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.E3416Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3441					protein transport (GO:0015031)			p.E3441Q(1)|p.E3416Q(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)			TGCGTTGTTTGAACTTTACTG	0.522																																					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.(10321-10323)GAA>CAA		vacuolar protein sorting 13B isoform 5							66.0	63.0	64.0					8																	100865863		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100865863G>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.10321G>C	8.37:g.100865863G>C	ENSP00000351346:p.Glu3441Gln					VPS13B_uc003yiw.2_Missense_Mutation_p.E3416Q	p.E3441Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10432	+	Breast(36;3.73e-07)		3441					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10321G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.632985	0.00114	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68765	-0.35;-0.35	5.43	1.29	0.21616	.	1.353810	0.04598	N	0.397923	T	0.31827	0.0809	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35051	-0.9804	10	0.06891	T	0.86	.	6.2485	0.20832	0.1218:0.3826:0.4233:0.0723	.	3416;3441	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Q	3416;3441	ENSP00000349685:E3416Q;ENSP00000351346:E3441Q	ENSP00000349685:E3416Q	E	+	1	0	VPS13B	100935039	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.768000	0.26590	0.225000	0.20959	-0.145000	0.13849	GAA		PASS	0.522	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		18	88	18	88	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	100999760	100999760	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:100999760G>C	ENST00000360863.6	-	21	3300	c.3106C>G	c.(3106-3108)Caa>Gaa	p.Q1036E	RGS22_ENST00000523437.1_Missense_Mutation_p.Q1024E|RGS22_ENST00000523287.1_Missense_Mutation_p.Q855E	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1036	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q1036E(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACAAAACGTTGAAATTGTCTT	0.358																																						uc003yjb.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3106-3108)CAA>GAA		regulator of G-protein signaling 22							96.0	88.0	90.0					8																	100999760		1826	4080	5906	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100999760G>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3106C>G	8.37:g.100999760G>C	ENSP00000354109:p.Gln1036Glu					RGS22_uc003yja.1_Missense_Mutation_p.Q855E|RGS22_uc003yjc.1_Missense_Mutation_p.Q1024E	p.Q1036E	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		21	3301	-			1036			RGS 2.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.3106C>G	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408362	0.83340	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.01871	4.59;4.59;4.59	5.76	5.76	0.90799	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.12347	0.0300	M	0.62723	1.935	0.40455	D	0.980182	D;D;D	0.69078	0.997;0.997;0.996	D;D;D	0.79108	0.992;0.992;0.987	T	0.00107	-1.2053	10	0.72032	D	0.01	.	19.951	0.97199	0.0:0.0:1.0:0.0	.	1024;1036;855	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	E	1036;1023;855;1024	ENSP00000354109:Q1036E;ENSP00000429382:Q855E;ENSP00000428212:Q1024E	ENSP00000354109:Q1036E	Q	-	1	0	RGS22	101068936	1.000000	0.71417	0.878000	0.34440	0.891000	0.51852	8.640000	0.91028	2.719000	0.93026	0.573000	0.79308	CAA		PASS	0.358	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		3	113	3	113	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105436529	105436529	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:105436529C>G	ENST00000351513.2	-	7	1313	c.1181G>C	c.(1180-1182)aGa>aCa	p.R394T	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	394					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.R394T(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TACAGCTATTCTTCCTTTTCT	0.378																																						uc003yly.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1180-1182)AGA>ACA		dihydropyrimidinase							183.0	177.0	179.0					8																	105436529		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105436529C>G	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1181G>C	8.37:g.105436529C>G	ENSP00000276651:p.Arg394Thr						p.R394T	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	1310	-			394						Missense_Mutation	SNP	ENST00000351513.2	37	c.1181G>C	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789612	0.70337	.	.	ENSG00000147647	ENST00000351513	D	0.90004	-2.6	5.98	4.19	0.49359	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.089181	0.85682	D	0.000000	D	0.84279	0.5437	L	0.31752	0.955	0.46654	D	0.999148	P	0.42735	0.788	P	0.46172	0.506	T	0.80004	-0.1564	10	0.29301	T	0.29	-19.8355	10.092	0.42453	0.0:0.7953:0.0:0.2047	.	394	Q14117	DPYS_HUMAN	T	394	ENSP00000276651:R394T	ENSP00000276651:R394T	R	-	2	0	DPYS	105505705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.131000	0.42074	0.863000	0.35553	0.655000	0.94253	AGA		PASS	0.378	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	233	7	233	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106431476	106431476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:106431476G>T	ENST00000407775.2	+	2	395	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	49					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E49*(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTTTTCCACAGAATTTGGGCC	0.398																																						uc003ymd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(145-147)GAA>TAA		zinc finger protein, multitype 2							111.0	109.0	110.0					8																	106431476		1853	4091	5944	SO:0001587	stop_gained	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106431476G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.145G>T	8.37:g.106431476G>T	ENSP00000384179:p.Glu49*						p.E49*	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		2	168	+			49					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Nonsense_Mutation	SNP	ENST00000407775.2	37	c.145G>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	38	6.973464	0.97975	.	.	ENSG00000169946	ENST00000407775	.	.	.	5.37	5.37	0.77165	.	0.209310	0.27927	N	0.017291	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.0988	0.93265	0.0:0.0:1.0:0.0	.	.	.	.	X	49	.	ENSP00000384179:E49X	E	+	1	0	ZFPM2	106500652	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.374000	0.97172	2.528000	0.85240	0.591000	0.81541	GAA		PASS	0.398	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			24	119	24	119	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110413772	110413772	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:110413772G>T	ENST00000378402.5	+	14	1432	c.1328G>T	c.(1327-1329)aGt>aTt	p.S443I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	443					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S445I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATTTTTCCAGTCCAACACAA	0.348										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(1327-1329)AGT>ATT		fibrocystin L precursor							82.0	75.0	77.0					8																	110413772		1824	4083	5907	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110413772G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1328G>T	8.37:g.110413772G>T	ENSP00000367655:p.Ser443Ile	HNSCC(38;0.096)					p.S443I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		14	1432	+			443			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1328G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	7.671	0.687073	0.14973	.	.	ENSG00000205038	ENST00000378402	T	0.22134	1.97	5.75	3.95	0.45737	PA14 (1);	0.387979	0.28790	N	0.014127	T	0.20210	0.0486	L	0.61218	1.895	0.09310	N	0.999999	B	0.34181	0.44	B	0.34242	0.178	T	0.13469	-1.0508	10	0.22706	T	0.39	.	8.3458	0.32272	0.2438:0.0:0.7562:0.0	.	443	Q86WI1	PKHL1_HUMAN	I	443	ENSP00000367655:S443I	ENSP00000367655:S443I	S	+	2	0	PKHD1L1	110482948	0.002000	0.14202	0.998000	0.56505	0.700000	0.40528	0.252000	0.18278	0.764000	0.33197	0.585000	0.79938	AGT		PASS	0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		23	57	23	57	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113314138	113314138	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:113314138G>C	ENST00000297405.5	-	53	8568	c.8324C>G	c.(8323-8325)aCt>aGt	p.T2775S	CSMD3_ENST00000352409.3_Missense_Mutation_p.T2705S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2606S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T2735S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2775	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2775S(1)|p.T2735S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCATATGAAGTTTGAGTTCC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8323-8325)ACT>AGT		CUB and Sushi multiple domains 3 isoform 1							123.0	124.0	124.0					8																	113314138		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113314138G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8324C>G	8.37:g.113314138G>C	ENSP00000297405:p.Thr2775Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T1977S|CSMD3_uc003ynt.2_Missense_Mutation_p.T2735S|CSMD3_uc011lhx.1_Missense_Mutation_p.T2606S	p.T2775S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			53	8483	-			2775			Extracellular (Potential).|Sushi 17.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8324C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	9.428	1.084861	0.20309	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.62	3.44	0.39384	Complement control module (2);Sushi/SCR/CCP (3);	0.335693	0.26616	N	0.023397	T	0.48714	0.1515	L	0.35249	1.045	0.33270	D	0.560843	B;B;B	0.22480	0.029;0.07;0.023	B;B;B	0.35073	0.068;0.195;0.023	T	0.51725	-0.8669	10	0.22109	T	0.4	.	4.8259	0.13416	0.1539:0.0:0.6281:0.218	.	2606;2775;2735	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	2735;2775;2045;2606;2705	ENSP00000345799:T2735S;ENSP00000297405:T2775S;ENSP00000341558:T2045S;ENSP00000412263:T2606S;ENSP00000343124:T2705S	ENSP00000297405:T2775S	T	-	2	0	CSMD3	113383314	1.000000	0.71417	0.893000	0.35052	0.980000	0.70556	1.936000	0.40183	1.499000	0.48617	0.655000	0.94253	ACT		PASS	0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	102	26	102	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113668386	113668386	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:113668386C>T	ENST00000297405.5	-	18	3245	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E1001K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E897K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E961K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1001	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E961K(1)|p.E1001K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACTTACTTTCATAATGAATC	0.294										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3001-3003)GAA>AAA		CUB and Sushi multiple domains 3 isoform 1							52.0	58.0	56.0					8																	113668386		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113668386C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3001G>A	8.37:g.113668386C>T	ENSP00000297405:p.Glu1001Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.E273K|CSMD3_uc003ynt.2_Missense_Mutation_p.E961K|CSMD3_uc011lhx.1_Missense_Mutation_p.E897K	p.E1001K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			18	3160	-			1001			Extracellular (Potential).|CUB 5.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3001G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219859	0.79464	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.28	5.28	0.74379	CUB (4);	0.000000	0.64402	D	0.000001	T	0.68044	0.2958	L	0.45285	1.41	0.48087	D	0.999588	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.997;0.993;0.998	T	0.59484	-0.7446	10	0.10377	T	0.69	.	19.2782	0.94040	0.0:1.0:0.0:0.0	.	897;1001;961	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	961;1001;341;897;1001	ENSP00000345799:E961K;ENSP00000297405:E1001K;ENSP00000341558:E341K;ENSP00000412263:E897K;ENSP00000343124:E1001K	ENSP00000297405:E1001K	E	-	1	0	CSMD3	113737562	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	7.776000	0.85560	2.622000	0.88805	0.557000	0.71058	GAA		PASS	0.294	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	100	13	100	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120594819	120594819	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:120594819G>C	ENST00000075322.6	-	18	1625	c.1567C>G	c.(1567-1569)Cct>Gct	p.P523A	ENPP2_ENST00000522826.1_Missense_Mutation_p.P523A|ENPP2_ENST00000522167.1_Missense_Mutation_p.P162A|ENPP2_ENST00000259486.6_Missense_Mutation_p.P575A|ENPP2_ENST00000427067.2_Missense_Mutation_p.P519A	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	523					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P523A(1)|p.P575A(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCATTATTAGGAGCTGGCTTC	0.413																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1567-1569)CCT>GCT		autotaxin isoform 2 preproprotein							131.0	138.0	135.0					8																	120594819		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120594819G>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1567C>G	8.37:g.120594819G>C	ENSP00000075322:p.Pro523Ala					ENPP2_uc011lic.1_Missense_Mutation_p.P40A|ENPP2_uc003yor.1_Missense_Mutation_p.P162A|ENPP2_uc003yos.1_Missense_Mutation_p.P575A|ENPP2_uc010mdd.1_Missense_Mutation_p.P523A	p.P523A	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		18	1653	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		523					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1567C>G	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855002	0.51376	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.79141	-1.02;-1.03;-1.24;-1.03;-1.03	6.08	4.2	0.49525	.	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	M	0.68593	2.085	0.80722	D	1	D;P;P;P;P	0.56746	0.977;0.894;0.892;0.936;0.892	P;P;B;P;B	0.58721	0.844;0.632;0.247;0.797;0.193	D	0.84626	0.0687	10	0.62326	D	0.03	.	11.6611	0.51347	0.0664:0.1245:0.8091:0.0	.	40;523;523;575;162	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	A	575;519;162;523;523	ENSP00000259486:P575A;ENSP00000403315:P519A;ENSP00000429476:P162A;ENSP00000428291:P523A;ENSP00000075322:P523A	ENSP00000075322:P523A	P	-	1	0	ENPP2	120664000	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.225000	0.72271	1.595000	0.50050	-0.136000	0.14681	CCT		PASS	0.413	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			41	359	41	359	---	---	---	---
FAM83A	84985	broad.mit.edu	37	8	124206350	124206350	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:124206350C>T	ENST00000518448.1	+	4	2749	c.735C>T	c.(733-735)atC>atT	p.I245I	FAM83A_ENST00000546351.1_Silent_p.I189I|FAM83A_ENST00000522648.1_Silent_p.I189I|FAM83A_ENST00000276699.6_Silent_p.I245I|FAM83A_ENST00000536633.1_Silent_p.I245I|FAM83A_ENST00000318462.6_Silent_p.I245I			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	245								p.I245I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGAAGTTCATCATCTCGGACT	0.498																																						uc003ypv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(733-735)ATC>ATT		hypothetical protein LOC84985 isoform a							141.0	121.0	128.0					8																	124206350		2203	4300	6503	SO:0001819	synonymous_variant	84985							g.chr8:124206350C>T	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.735C>T	8.37:g.124206350C>T						FAM83A_uc003ypw.2_Silent_p.I245I|FAM83A_uc003ypy.2_Silent_p.I189I|FAM83A_uc003ypx.2_Silent_p.I245I|FAM83A_uc003ypz.2_Silent_p.I245I	p.I245I	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	2749	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		245					Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	37	c.735C>T	CCDS6340.1																																																																																				PASS	0.498	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		15	138	15	138	---	---	---	---
C8orf76	84933	broad.mit.edu	37	8	124253535	124253535	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:124253535C>G	ENST00000276704.4	-	1	103	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	ZHX1-C8ORF76_ENST00000357082.4_Intron|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	18								p.E18Q(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GGCCTCTCCTCGAACACCGAG	0.706																																						uc003yqc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(52-54)GAG>CAG		hypothetical protein LOC84933							11.0	12.0	12.0					8																	124253535		2145	4241	6386	SO:0001583	missense	84933						binding	g.chr8:124253535C>G	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.52G>C	8.37:g.124253535C>G	ENSP00000276704:p.Glu18Gln					C8orf76_uc003yqd.2_Intron	p.E18Q	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		1	83	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		18					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.52G>C	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169799	0.78452	.	.	ENSG00000189376	ENST00000276704	T	0.23147	1.92	5.68	5.68	0.88126	.	0.322835	0.30940	N	0.008577	T	0.48696	0.1514	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.44757	-0.9307	10	0.56958	D	0.05	-18.1134	12.3029	0.54884	0.1689:0.8311:0.0:0.0	.	18	Q96K31	CH076_HUMAN	Q	18	ENSP00000276704:E18Q	ENSP00000276704:E18Q	E	-	1	0	C8orf76	124322716	0.993000	0.37304	1.000000	0.80357	0.552000	0.35366	1.712000	0.37940	2.687000	0.91594	0.561000	0.74099	GAG		PASS	0.706	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		4	22	4	22	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124349909	124349909	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:124349909C>G	ENST00000287394.5	-	21	3114	c.3007G>C	c.(3007-3009)Gac>Cac	p.D1003H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D321H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1003	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D1003H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AATCGCTTGTCAATAGCAAGC	0.373																																						uc003yqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3007-3009)GAC>CAC		ATPase family, AAA domain containing 2							178.0	161.0	167.0					8																	124349909		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124349909C>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3007G>C	8.37:g.124349909C>G	ENSP00000287394:p.Asp1003His					ATAD2_uc011lii.1_Missense_Mutation_p.D794H|ATAD2_uc003yqi.3_RNA	p.D1003H	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		21	3115	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1003			Bromo.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.3007G>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054328	0.75960	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.16196	2.36;2.36	5.58	5.58	0.84498	Bromodomain (4);	0.043013	0.85682	D	0.000000	T	0.31544	0.0800	N	0.21617	0.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04178	-1.0971	10	0.54805	T	0.06	-18.4613	19.9414	0.97163	0.0:1.0:0.0:0.0	.	1003	Q6PL18	ATAD2_HUMAN	H	1003;321	ENSP00000287394:D1003H;ENSP00000429213:D321H	ENSP00000287394:D1003H	D	-	1	0	ATAD2	124419090	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	7.711000	0.84669	2.779000	0.95612	0.650000	0.86243	GAC		PASS	0.373	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		14	171	14	171	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124707798	124707798	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:124707798C>G	ENST00000419625.1	-	6	487	c.415G>C	c.(415-417)Gat>Cat	p.D139H	ANXA13_ENST00000262219.6_Missense_Mutation_p.D180H	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	139					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)	p.D180H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTTTGACATCTGATTCGAGG	0.388																																						uc003yqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(415-417)GAT>CAT		annexin A13 isoform a							152.0	152.0	152.0					8																	124707798		2203	4300	6503	SO:0001583	missense	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124707798C>G	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.415G>C	8.37:g.124707798C>G	ENSP00000390809:p.Asp139His					ANXA13_uc003yqt.2_Missense_Mutation_p.D180H	p.D139H	NM_004306	NP_004297	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	488	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		139			Annexin 2.		Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	c.415G>C	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587495	0.66105	.	.	ENSG00000104537	ENST00000262219;ENST00000419625;ENST00000520519	T;T;T	0.32753	3.07;1.44;3.07	6.04	6.04	0.98038	Annexin repeat, conserved site (1);	0.041188	0.85682	D	0.000000	T	0.62307	0.2417	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71414	0.962;0.973	T	0.65578	-0.6134	10	0.87932	D	0	.	19.3507	0.94384	0.0:1.0:0.0:0.0	.	139;180	P27216;P27216-2	ANX13_HUMAN;.	H	180;139;110	ENSP00000262219:D180H;ENSP00000390809:D139H;ENSP00000429358:D110H	ENSP00000262219:D180H	D	-	1	0	ANXA13	124776979	1.000000	0.71417	0.999000	0.59377	0.245000	0.25701	7.006000	0.76329	2.873000	0.98535	0.561000	0.74099	GAT		PASS	0.388	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		51	455	51	455	---	---	---	---
SQLE	6713	broad.mit.edu	37	8	126011914	126011914	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:126011914A>C	ENST00000265896.5	+	1	1167	c.269A>C	c.(268-270)aAg>aCg	p.K90T	RP11-6D1.3_ENST00000523030.1_RNA|SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	90					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)	p.K90T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TCAGAAAATAAGGAGCAGCTC	0.483																																						uc011liq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(268-270)AAG>ACG		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						27.0	28.0	28.0					8																	126011914		1854	4116	5970	SO:0001583	missense	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126011914A>C	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.269A>C	8.37:g.126011914A>C	ENSP00000265896:p.Lys90Thr						p.K90T	NM_003129	NP_003120	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		1	1195	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		90					Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	c.269A>C	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	A	9.081	0.999267	0.19121	.	.	ENSG00000104549	ENST00000265896	.	.	.	4.81	3.66	0.41972	.	0.662377	0.16081	N	0.230529	T	0.29945	0.0749	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23511	-1.0186	9	0.10111	T	0.7	-16.3701	3.6857	0.08327	0.651:0.0:0.1001:0.2489	.	90	Q14534	ERG1_HUMAN	T	90	.	ENSP00000265896:K90T	K	+	2	0	SQLE	126081095	0.002000	0.14202	0.976000	0.42696	0.952000	0.60782	1.230000	0.32612	1.800000	0.52685	0.459000	0.35465	AAG		PASS	0.483	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		4	49	4	49	---	---	---	---
MYC	4609	broad.mit.edu	37	8	128752800	128752800	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:128752800C>G	ENST00000377970.2	+	3	1471	c.961C>G	c.(961-963)Cag>Gag	p.Q321E	MYC_ENST00000524013.1_Missense_Mutation_p.Q320E	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	306					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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)|transcription factor binding (GO:0008134)	p.Q321E(1)|p.Q306E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CTCCACACATCAGCACAACTA	0.562		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""																																	uc003ysi.2		3		Dom	yes		8	8q24.12-q24.13	4609	A|T	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@		Burkitt lymphoma| amplified in other cancers|B-CLL		2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6						c.(961-963)CAG>GAG		myc proto-oncogene protein							87.0	66.0	73.0					8																	128752800		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128752800C>G		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.961C>G	8.37:g.128752800C>G	ENSP00000367207:p.Gln321Glu						p.Q321E	NM_002467	NP_002458	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	1486	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	306					A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000377970.2	37	c.961C>G	CCDS6359.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739316	0.89573	.	.	ENSG00000136997	ENST00000377970;ENST00000524013;ENST00000454617	T;T	0.27890	1.64;1.64	5.54	5.54	0.83059	Transcription regulator Myc, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	M	0.76328	2.33	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.61247	-0.7101	10	0.87932	D	0	-23.0286	18.4746	0.90788	0.0:1.0:0.0:0.0	.	306	P01106	MYC_HUMAN	E	321;320;287	ENSP00000367207:Q321E;ENSP00000430235:Q320E	ENSP00000367207:Q321E	Q	+	1	0	MYC	128821982	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.814000	0.86154	2.596000	0.87737	0.650000	0.86243	CAG		PASS	0.562	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			8	72	8	72	---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133806669	133806669	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:133806669A>G	ENST00000395386.2	+	3	396	c.97A>G	c.(97-99)Att>Gtt	p.I33V	PHF20L1_ENST00000395376.1_Missense_Mutation_p.I33V|PHF20L1_ENST00000337920.4_Missense_Mutation_p.I33V|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.I33V|PHF20L1_ENST00000395390.2_Missense_Mutation_p.I33V	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	33	Tudor 1.						zinc ion binding (GO:0008270)	p.I33V(3)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCATCACGAATTGAAAAAAT	0.348																																						uc003ytt.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(97-99)ATT>GTT		PHD finger protein 20-like 1 isoform 1							87.0	82.0	83.0					8																	133806669		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133806669A>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.97A>G	8.37:g.133806669A>G	ENSP00000378784:p.Ile33Val					PHF20L1_uc003ytr.2_Missense_Mutation_p.I33V|PHF20L1_uc010mdv.2_Missense_Mutation_p.I33V|PHF20L1_uc003yts.2_Missense_Mutation_p.I33V|PHF20L1_uc011lja.1_Missense_Mutation_p.I33V|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytq.2_Missense_Mutation_p.I33V	p.I33V	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		3	422	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		33			Tudor 1.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.97A>G	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360856	0.82353	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395390	T;T;T;T;T;T;T;T	0.54279	0.66;0.64;0.72;1.18;0.58;0.69;0.66;1.27	5.91	5.91	0.95273	Tudor-like, plant (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	L	0.48260	1.515	0.80722	D	1	D;B;D;P;P	0.62365	0.991;0.154;0.977;0.948;0.714	D;B;P;D;B	0.72625	0.978;0.324;0.896;0.949;0.376	T	0.64317	-0.6436	10	0.40728	T	0.16	-3.3554	15.5298	0.75948	1.0:0.0:0.0:0.0	.	33;33;33;33;33	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	V	33	ENSP00000378781:I33V;ENSP00000378777:I33V;ENSP00000355301:I33V;ENSP00000378784:I33V;ENSP00000324519:I33V;ENSP00000338269:I33V;ENSP00000378775:I33V;ENSP00000378788:I33V	ENSP00000324519:I33V	I	+	1	0	PHF20L1	133875851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.317000	0.96327	2.259000	0.74868	0.528000	0.53228	ATT		PASS	0.348	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		16	159	16	159	---	---	---	---
KHDRBS3	10656	broad.mit.edu	37	8	136619262	136619262	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:136619262A>G	ENST00000355849.5	+	7	1282	c.872A>G	c.(871-873)tAt>tGt	p.Y291C	KHDRBS3_ENST00000520981.1_Missense_Mutation_p.Y64C	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	291	Tyr-rich.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y291C(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GATAACAGCTATAGCACCCCA	0.403																																						uc003yuv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(871-873)TAT>TGT		KH domain containing, RNA binding, signal							198.0	184.0	189.0					8																	136619262		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136619262A>G	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.872A>G	8.37:g.136619262A>G	ENSP00000348108:p.Tyr291Cys					KHDRBS3_uc003yuw.2_Intron|KHDRBS3_uc010mek.2_RNA	p.Y291C	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		7	1266	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		291			Tyr-rich.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.872A>G	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.202910	0.58234	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000520981	T;T	0.61742	0.33;0.08	6.01	6.01	0.97437	.	0.120033	0.64402	D	0.000018	T	0.61185	0.2327	M	0.74647	2.275	0.80722	D	1	P	0.34562	0.457	B	0.34873	0.191	T	0.65635	-0.6120	10	0.87932	D	0	-12.3799	15.7096	0.77615	1.0:0.0:0.0:0.0	.	291	O75525	KHDR3_HUMAN	C	291;263;64	ENSP00000348108:Y291C;ENSP00000428607:Y64C	ENSP00000348108:Y291C	Y	+	2	0	KHDRBS3	136688444	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.586000	0.82596	2.307000	0.77673	0.528000	0.53228	TAT		PASS	0.403	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			38	307	38	307	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139601674	139601674	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:139601674C>A	ENST00000303045.6	-	65	5149	c.4703G>T	c.(4702-4704)gGg>gTg	p.G1568V	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1548V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1568	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1568V(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCAGGTTCCCCGGGTTGACC	0.582										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4702-4704)GGG>GTG		collagen, type XXII, alpha 1							38.0	33.0	35.0					8																	139601674		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139601674C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4703G>T	8.37:g.139601674C>A	ENSP00000303153:p.Gly1568Val	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G848V	p.G1568V	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		65	5150	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1568			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4703G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375105	0.61735	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99353	-5.77;-5.77	5.52	5.52	0.82312	.	0.000000	0.51477	D	0.000100	D	0.99760	0.9903	H	0.99368	4.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96949	0.9693	10	0.87932	D	0	.	18.7902	0.91971	0.0:1.0:0.0:0.0	.	1548;1568	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	V	1568;1548;1261	ENSP00000303153:G1568V;ENSP00000387655:G1548V	ENSP00000303153:G1568V	G	-	2	0	COL22A1	139670856	1.000000	0.71417	0.998000	0.56505	0.740000	0.42216	7.252000	0.78309	2.752000	0.94435	0.655000	0.94253	GGG		PASS	0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		6	26	6	26	---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141745438	141745438	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:141745438G>A	ENST00000522684.1	-	22	2171	c.1942C>T	c.(1942-1944)Cct>Tct	p.P648S	PTK2_ENST00000535192.1_Missense_Mutation_p.P648S|PTK2_ENST00000517887.1_Missense_Mutation_p.P692S|PTK2_ENST00000340930.3_Missense_Mutation_p.P648S|PTK2_ENST00000519465.1_Missense_Mutation_p.P276S|PTK2_ENST00000538769.1_Missense_Mutation_p.P316S|PTK2_ENST00000519419.1_Missense_Mutation_p.P692S|MIR151A_ENST00000521276.1_RNA|PTK2_ENST00000521059.1_Missense_Mutation_p.P648S|PTK2_ENST00000395218.2_Missense_Mutation_p.P648S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	648	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.P648S(1)|p.P670S(1)|p.P600S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AGGGTAGGAGGACAATTTGGA	0.478																																						uc003yvu.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1942-1944)CCT>TCT		PTK2 protein tyrosine kinase 2 isoform a							150.0	121.0	131.0					8																	141745438		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141745438G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1942C>T	8.37:g.141745438G>A	ENSP00000429911:p.Pro648Ser					PTK2_uc003yvo.2_Missense_Mutation_p.P276S|PTK2_uc011ljq.1_Missense_Mutation_p.P343S|PTK2_uc003yvp.2_Missense_Mutation_p.P316S|PTK2_uc003yvq.2_Missense_Mutation_p.P174S|PTK2_uc003yvr.2_Missense_Mutation_p.P588S|PTK2_uc003yvs.2_Missense_Mutation_p.P648S|PTK2_uc003yvt.2_Missense_Mutation_p.P670S|PTK2_uc003yvv.2_Missense_Mutation_p.P548S|PTK2_uc011ljr.1_Missense_Mutation_p.P648S|MIR151_hsa-mir-151|MI0000809_5'Flank	p.P648S	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		22	2172	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	648			Protein kinase.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1942C>T	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.216266|5.216266	0.95104|0.95104	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207|ENST00000519654	T;T;T;T;T;T;T;T;T;T;T|.	0.61040|.	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54615|0.54615	0.1869|0.1869	N|N	0.20807|0.20807	0.61|0.61	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.999|.	D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.999;0.999;0.987;0.999;0.995;0.998;0.987;0.983;0.995;0.963|.	T|T	0.49041|0.49041	-0.8980|-0.8980	10|5	0.87932|.	D|.	0|.	.|.	19.4121|19.4121	0.94679|0.94679	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	648;343;568;648;670;648;600;496;316;276|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.;.|.	S|F	648;648;276;692;648;600;648;569;343;320;648;316;692;346;494|658	ENSP00000429911:P648S;ENSP00000438009:P648S;ENSP00000429170:P276S;ENSP00000429082:P692S;ENSP00000429474:P648S;ENSP00000378644:P648S;ENSP00000428492:P320S;ENSP00000341189:P648S;ENSP00000445742:P316S;ENSP00000429129:P692S;ENSP00000430603:P346S|.	ENSP00000341189:P648S|.	P|S	-|-	1|2	0|0	PTK2|PTK2	141814620|141814620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.578000|9.578000	0.98200|0.98200	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	CCT|TCC		PASS	0.478	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		36	129	36	129	---	---	---	---
SLURP1	57152	broad.mit.edu	37	8	143823764	143823764	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:143823764C>T	ENST00000246515.1	-	1	65	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	14					cell activation (GO:0001775)|cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.A14T(1)		breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ATGCTCCAGGCTGCCACGAGC	0.637																																						uc003ywy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)GCC>ACC		ARS component B precursor							43.0	44.0	43.0					8																	143823764		2202	4297	6499	SO:0001583	missense	57152				cell activation|cell adhesion	extracellular space	cytokine activity	g.chr8:143823764C>T	AY579080	CCDS6387.1	8q24.3	2004-11-16			ENSG00000126233	ENSG00000126233			18746	protein-coding gene	gene with protein product	"""lymphocyte antigen 6-like secreted"", ""ARS component B"""	606119				11285253, 10211827	Standard	NM_020427		Approved	ARS, ANUP, MDM, ArsB, LY6LS	uc003ywy.3	P55000	OTTHUMG00000164685	ENST00000246515.1:c.40G>A	8.37:g.143823764C>T	ENSP00000246515:p.Ala14Thr						p.A14T	NM_020427	NP_065160	P55000	SLUR1_HUMAN			1	66	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		14					Q53YJ6|Q6PUA6|Q92483	Missense_Mutation	SNP	ENST00000246515.1	37	c.40G>A	CCDS6387.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480782	0.84747	.	.	ENSG00000126233	ENST00000246515	D	0.83419	-1.72	3.25	2.34	0.29019	.	0.553031	0.14776	U	0.299067	D	0.86297	0.5899	L	0.61387	1.9	0.19300	N	0.999976	D	0.67145	0.996	D	0.65233	0.933	T	0.74668	-0.3588	10	0.24483	T	0.36	-5.6103	8.8818	0.35378	0.0:0.7686:0.2314:0.0	.	14	P55000	SLUR1_HUMAN	T	14	ENSP00000246515:A14T	ENSP00000246515:A14T	A	-	1	0	SLURP1	143820766	0.021000	0.18746	0.399000	0.26333	0.897000	0.52465	0.685000	0.25378	0.634000	0.30469	0.561000	0.74099	GCC		PASS	0.637	SLURP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379741.1	NM_020427		13	45	13	45	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143960579	143960579	+	Missense_Mutation	SNP	C	C	A	rs193922539		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:143960579C>A	ENST00000292427.4	-	2	296	c.264G>T	c.(262-264)atG>atT	p.M88I	CYP11B1_ENST00000377675.3_Missense_Mutation_p.M133I|CYP11B1_ENST00000517471.1_Missense_Mutation_p.M88I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	88					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.M88I(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TCACACACACCATGCCTGCTC	0.632									Familial Hyperaldosteronism type I																													uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(262-264)ATG>ATT		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						172.0	132.0	146.0					8																	143960579		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960579C>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.264G>T	8.37:g.143960579C>A	ENSP00000292427:p.Met88Ile					CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.M88I|CYP11B1_uc010mey.2_Missense_Mutation_p.M133I	p.M88I	NM_000497	NP_000488	P15538	C11B1_HUMAN			2	271	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		88					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.264G>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	C	0.598	-0.830382	0.02734	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73258	-0.31;-0.31;-0.73	3.55	-0.834	0.10779	.	1.510410	0.04200	N	0.329832	T	0.49440	0.1557	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.004;0.003	T	0.16100	-1.0414	10	0.22109	T	0.4	.	0.7012	0.00908	0.2163:0.2613:0.3314:0.191	.	133;88;88	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	I	88;88;133	ENSP00000292427:M88I;ENSP00000428043:M88I;ENSP00000366903:M133I	ENSP00000292427:M88I	M	-	3	0	CYP11B1	143957581	0.001000	0.12720	0.010000	0.14722	0.044000	0.14063	-0.977000	0.03782	-0.029000	0.13827	0.484000	0.47621	ATG		PASS	0.632	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			29	124	29	124	---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143996191	143996191	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:143996191G>T	ENST00000323110.2	-	4	731	c.729C>A	c.(727-729)agC>agA	p.S243R		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	243					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.S243R(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AGCGAGACAGGCTCCTGGGCA	0.607									Familial Hyperaldosteronism type I																													uc003yxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)AGC>AGA		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						49.0	45.0	46.0					8																	143996191		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143996191G>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.729C>A	8.37:g.143996191G>T	ENSP00000325822:p.Ser243Arg						p.S243R	NM_000498	NP_000489	P19099	C11B2_HUMAN			4	732	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		243					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.729C>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	5.973	0.363393	0.11296	.	.	ENSG00000179142	ENST00000323110	T	0.68479	-0.33	3.89	2.02	0.26589	.	0.568379	0.17070	N	0.188199	T	0.42291	0.1196	N	0.16201	0.385	0.25154	N	0.990407	B	0.11235	0.004	B	0.15052	0.012	T	0.19877	-1.0292	10	0.10902	T	0.67	.	7.8828	0.29631	0.2171:0.0:0.7829:0.0	.	243	P19099	C11B2_HUMAN	R	243	ENSP00000325822:S243R	ENSP00000325822:S243R	S	-	3	2	CYP11B2	143993193	0.020000	0.18652	0.811000	0.32455	0.992000	0.81027	0.127000	0.15790	0.847000	0.35167	0.561000	0.74099	AGC		PASS	0.607	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			7	40	7	40	---	---	---	---
ZNF707	286075	broad.mit.edu	37	8	144776412	144776412	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:144776412C>G	ENST00000532205.1	+	8	1727	c.828C>G	c.(826-828)ctC>ctG	p.L276L	ZNF707_ENST00000532158.1_Silent_p.L276L|ZNF707_ENST00000358656.4_Silent_p.L276L|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000454097.1_Silent_p.L276L|ZNF707_ENST00000418203.2_Silent_p.L276L			Q96C28	ZN707_HUMAN	zinc finger protein 707	276					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.L276L(1)		breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCAACCTTCTCAGACACCAGC	0.632																																						uc003yze.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(826-828)CTC>CTG		zinc finger protein 707							23.0	28.0	26.0					8																	144776412		2170	4271	6441	SO:0001819	synonymous_variant	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776412C>G	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.828C>G	8.37:g.144776412C>G						ZNF707_uc010mfh.2_Silent_p.L276L|ZNF707_uc010mfi.2_Silent_p.L276L|ZNF707_uc003yzf.3_Silent_p.L276L|ZNF707_uc003yzh.3_Silent_p.L203L|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank	p.L276L	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	1143	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		276			C2H2-type 4.		A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	37	c.828C>G	CCDS47932.1																																																																																				PASS	0.632	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		9	9	9	9	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144992859	144992859	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:144992859G>C	ENST00000322810.4	-	32	11710	c.11541C>G	c.(11539-11541)ctC>ctG	p.L3847L	PLEC_ENST00000354589.3_Silent_p.L3710L|PLEC_ENST00000354958.2_Silent_p.L3688L|PLEC_ENST00000356346.3_Silent_p.L3696L|PLEC_ENST00000398774.2_Silent_p.L3678L|PLEC_ENST00000527096.1_Silent_p.L3733L|PLEC_ENST00000345136.3_Silent_p.L3710L|PLEC_ENST00000436759.2_Silent_p.L3737L|PLEC_ENST00000357649.2_Silent_p.L3714L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3847	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.L3710L(1)|p.L3737L(1)|p.L3847L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCCTTTCTTGAGAGCCTGGT	0.662																																						uc003zaf.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11539-11541)CTC>CTG		plectin isoform 1							25.0	31.0	29.0					8																	144992859		1945	4101	6046	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144992859G>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11541C>G	8.37:g.144992859G>C						PLEC_uc003zab.1_Silent_p.L3710L|PLEC_uc003zac.1_Silent_p.L3714L|PLEC_uc003zad.2_Silent_p.L3710L|PLEC_uc003zae.1_Silent_p.L3678L|PLEC_uc003zag.1_Silent_p.L3688L|PLEC_uc003zah.2_Silent_p.L3696L|PLEC_uc003zaj.2_Silent_p.L3737L	p.L3847L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11711	-			3847			Globular 2.|Plectin 17.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.11541C>G	CCDS43772.1																																																																																				PASS	0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		12	114	12	114	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144998187	144998187	+	Silent	SNP	C	C	T	rs370973974		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:144998187C>T	ENST00000322810.4	-	31	6490	c.6321G>A	c.(6319-6321)gcG>gcA	p.A2107A	PLEC_ENST00000354589.3_Silent_p.A1970A|PLEC_ENST00000354958.2_Silent_p.A1948A|PLEC_ENST00000356346.3_Silent_p.A1956A|PLEC_ENST00000398774.2_Silent_p.A1938A|PLEC_ENST00000527096.1_Silent_p.A1993A|PLEC_ENST00000345136.3_Silent_p.A1970A|PLEC_ENST00000436759.2_Silent_p.A1997A|PLEC_ENST00000357649.2_Silent_p.A1974A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2107	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.A1997A(1)|p.A2107A(1)|p.A1970A(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCGCTGCCTCGCAGCCTCCA	0.746																																						uc003zaf.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6319-6321)GCG>GCA		plectin isoform 1		C	,,,,,,,	2,4122		0,2,2060	6.0	8.0	7.0		5991,5868,5844,6321,5814,5910,5922,5910	-7.9	0.0	8		7	1,8211		0,1,4105	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,3,6165	TT,TC,CC		0.0122,0.0485,0.0243	,,,,,,,	1997/4575,1956/4534,1948/4526,2107/4685,1938/4516,1970/4548,1974/4552,1970/4548	144998187	3,12333	2062	4106	6168	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998187C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6321G>A	8.37:g.144998187C>T						PLEC_uc003zab.1_Silent_p.A1970A|PLEC_uc003zac.1_Silent_p.A1974A|PLEC_uc003zad.2_Silent_p.A1970A|PLEC_uc003zae.1_Silent_p.A1938A|PLEC_uc003zag.1_Silent_p.A1948A|PLEC_uc003zah.2_Silent_p.A1956A|PLEC_uc003zaj.2_Silent_p.A1997A	p.A2107A	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6491	-			2107			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.6321G>A	CCDS43772.1																																																																																				PASS	0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	17	6	17	---	---	---	---
GPAA1	8733	broad.mit.edu	37	8	145138624	145138624	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:145138624C>G	ENST00000355091.4	+	4	495	c.374C>G	c.(373-375)tCg>tGg	p.S125W	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.S65W	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	125					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)	p.S125W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGATGGTGTCGGGCACCAAC	0.637																																						uc003zax.2																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)TCG>TGG		glycosylphosphatidylinositol anchor attachment							22.0	25.0	24.0					8																	145138624		2082	4201	6283	SO:0001583	missense	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145138624C>G	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.374C>G	8.37:g.145138624C>G	ENSP00000347206:p.Ser125Trp					GPAA1_uc003zav.1_Missense_Mutation_p.S3W|GPAA1_uc003zaw.1_Missense_Mutation_p.S65W	p.S125W	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	484	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		125			Lumenal (Potential).		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	c.374C>G	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098898	0.56183	.	.	ENSG00000197858	ENST00000355091;ENST00000361036;ENST00000524418;ENST00000530258	.	.	.	5.43	5.43	0.79202	.	0.218613	0.37178	N	0.002218	T	0.69079	0.3071	L	0.55213	1.73	0.36975	D	0.894026	D;D	0.76494	0.999;0.999	D;D	0.69654	0.965;0.913	T	0.75196	-0.3403	9	0.66056	D	0.02	-9.5848	11.77	0.51953	0.1759:0.8241:0.0:0.0	.	125;65	O43292;O43292-2	GPAA1_HUMAN;.	W	125;65;125;76	.	ENSP00000347206:S125W	S	+	2	0	GPAA1	145210612	0.934000	0.31675	0.601000	0.28877	0.741000	0.42261	1.942000	0.40243	2.543000	0.85770	0.462000	0.41574	TCG		PASS	0.637	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		11	68	11	68	---	---	---	---
ZNF34	80778	broad.mit.edu	37	8	145999641	145999641	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr8:145999641G>C	ENST00000343459.4	-	6	758	c.693C>G	c.(691-693)atC>atG	p.I231M	ZNF34_ENST00000429371.2_Missense_Mutation_p.I210M			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	231					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.I231M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TTGCACTGAAGATTTCCCCAG	0.358																																						uc003zdy.3																			1	Substitution - Missense(1)		lung(1)		0						c.(691-693)ATC>ATG		zinc finger protein 34							63.0	61.0	62.0					8																	145999641		1906	4135	6041	SO:0001583	missense	80778				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145999641G>C	BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.693C>G	8.37:g.145999641G>C	ENSP00000341528:p.Ile231Met					ZNF34_uc010mgb.2_Missense_Mutation_p.I128M|ZNF34_uc003zdx.3_Missense_Mutation_p.I210M	p.I231M	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)	6	795	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	231					D3DWN1|Q9BSZ0	Missense_Mutation	SNP	ENST00000343459.4	37	c.693C>G	CCDS47945.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102007	0.37048	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371;ENST00000534337	T;T;T	0.60797	0.16;0.16;0.16	3.77	-4.39	0.03611	.	.	.	.	.	T	0.40247	0.1109	L	0.35542	1.07	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.10450	0.002;0.005	T	0.34601	-0.9822	9	0.87932	D	0	.	6.0481	0.19772	0.4945:0.2388:0.2668:0.0	.	190;231	E7EN25;Q8IZ26	.;ZNF34_HUMAN	M	190;160;231;210;170	ENSP00000341528:I231M;ENSP00000396894:I210M;ENSP00000434049:I170M	ENSP00000341528:I231M	I	-	3	3	ZNF34	145970445	0.000000	0.05858	0.000000	0.03702	0.688000	0.40055	-0.612000	0.05616	-0.983000	0.03511	0.609000	0.83330	ATC		PASS	0.358	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	NM_030580		9	77	9	77	---	---	---	---
IFNA10	3446	broad.mit.edu	37	9	21206859	21206859	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:21206859G>A	ENST00000357374.2	-	1	283	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	80					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L80F(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ATCTCATGGAGGACAGAGATG	0.483																																						uc003zoq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)CTC>TTC		interferon, alpha 10 precursor							53.0	59.0	57.0					9																	21206859		2201	4297	6498	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206859G>A		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.238C>T	9.37:g.21206859G>A	ENSP00000369566:p.Leu80Phe					IFNA14_uc003zoo.1_Intron	p.L80F	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	284	-			80					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.238C>T	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	16.06	3.015173	0.54468	.	.	ENSG00000186803	ENST00000357374	T	0.04551	3.6	3.75	-0.143	0.13444	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.829753	0.10704	N	0.643733	T	0.10465	0.0256	M	0.65498	2.005	0.09310	N	1	B	0.19706	0.038	B	0.39152	0.292	T	0.43130	-0.9410	10	0.62326	D	0.03	.	9.0205	0.36198	0.0:0.6049:0.2565:0.1386	.	80	P01566	IFN10_HUMAN	F	80	ENSP00000369566:L80F	ENSP00000369566:L80F	L	-	1	0	IFNA10	21196859	0.000000	0.05858	0.000000	0.03702	0.990000	0.78478	-1.579000	0.02123	0.155000	0.19261	0.499000	0.49734	CTC		PASS	0.483	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		4	96	4	96	---	---	---	---
IFNA10	3446	broad.mit.edu	37	9	21206861	21206861	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:21206861A>G	ENST00000357374.2	-	1	281	c.236T>C	c.(235-237)gTc>gCc	p.V79A		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	79					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.V79A(2)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCATGGAGGACAGAGATGGC	0.488																																						uc003zoq.1																			2	Substitution - Missense(2)		lung(2)		0						c.(235-237)GTC>GCC		interferon, alpha 10 precursor							54.0	60.0	58.0					9																	21206861		2201	4297	6498	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206861A>G		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.236T>C	9.37:g.21206861A>G	ENSP00000369566:p.Val79Ala					IFNA14_uc003zoo.1_Intron	p.V79A	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	282	-			79					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.236T>C	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	15.90	2.968995	0.53614	.	.	ENSG00000186803	ENST00000357374	T	0.04917	3.53	3.75	1.29	0.21616	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.514561	0.19597	N	0.110500	T	0.07638	0.0192	L	0.54863	1.705	0.09310	N	1	B	0.16802	0.019	B	0.33454	0.164	T	0.35226	-0.9797	10	0.66056	D	0.02	.	2.8329	0.05505	0.5958:0.0:0.2161:0.1881	.	79	P01566	IFN10_HUMAN	A	79	ENSP00000369566:V79A	ENSP00000369566:V79A	V	-	2	0	IFNA10	21196861	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	0.641000	0.24720	0.034000	0.15491	0.409000	0.27619	GTC		PASS	0.488	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		4	99	4	99	---	---	---	---
UBAP1	51271	broad.mit.edu	37	9	34241603	34241603	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:34241603C>G	ENST00000297661.4	+	4	815	c.580C>G	c.(580-582)Cag>Gag	p.Q194E	UBAP1_ENST00000545103.1_Missense_Mutation_p.Q258E|UBAP1_ENST00000359544.2_Missense_Mutation_p.Q194E|UBAP1_ENST00000543944.1_Missense_Mutation_p.Q230E|UBAP1_ENST00000379186.4_Missense_Mutation_p.Q194E|UBAP1_ENST00000536252.1_Missense_Mutation_p.Q194E|UBAP1_ENST00000540348.1_Missense_Mutation_p.Q194E	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	194					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)	p.Q258E(1)|p.Q194E(1)		endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CATTATGGCTCAGTTATTGGA	0.468																																					NSCLC(109;1074 1634 14978 20375 39620)	uc003ztx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(580-582)CAG>GAG		ubiquitin associated protein 1							59.0	63.0	62.0					9																	34241603		2203	4300	6503	SO:0001583	missense	51271					cytoplasm		g.chr9:34241603C>G	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.580C>G	9.37:g.34241603C>G	ENSP00000297661:p.Gln194Glu					UBAP1_uc010mka.1_Missense_Mutation_p.Q230E|UBAP1_uc003zty.2_Missense_Mutation_p.Q194E|UBAP1_uc011loi.1_Missense_Mutation_p.Q230E|UBAP1_uc011loj.1_Missense_Mutation_p.Q258E|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.Q194E	p.Q194E	NM_016525	NP_057609	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		4	815	+			194					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	ENST00000297661.4	37	c.580C>G	CCDS6550.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293645	0.60086	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.47869	0.84;0.83;0.87;0.87;0.87;0.85;0.87	6.17	6.17	0.99709	.	0.055442	0.64402	D	0.000001	T	0.59088	0.2168	L	0.57536	1.79	0.39321	D	0.96524	P;P;D;P	0.61697	0.94;0.874;0.99;0.94	P;P;P;P	0.60473	0.647;0.546;0.875;0.647	T	0.52268	-0.8598	10	0.02654	T	1	-10.6799	19.0599	0.93085	0.0:1.0:0.0:0.0	.	258;230;258;194	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	E	258;230;194;194;194;194;194	ENSP00000441024:Q258E;ENSP00000439806:Q230E;ENSP00000440456:Q194E;ENSP00000439976:Q194E;ENSP00000297661:Q194E;ENSP00000368484:Q194E;ENSP00000352541:Q194E	ENSP00000297661:Q194E	Q	+	1	0	UBAP1	34231603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.249000	0.51437	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.468	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			3	81	3	81	---	---	---	---
TMEM8B	51754	broad.mit.edu	37	9	35853186	35853186	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:35853186G>C	ENST00000377991.4	+	13	2030	c.1015G>C	c.(1015-1017)Gac>Cac	p.D339H	TMEM8B_ENST00000377988.2_Missense_Mutation_p.D339H	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	339					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D339H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TCTGCAGCTTGACCGACATGG	0.602																																						uc003zym.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1015-1017)GAC>CAC		transmembrane protein 8B isoform a							144.0	144.0	144.0					9																	35853186		2021	4190	6211	SO:0001583	missense	51754				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35853186G>C	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.1015G>C	9.37:g.35853186G>C	ENSP00000367230:p.Asp339His					TMEM8B_uc003zyo.2_Missense_Mutation_p.D339H	p.D339H	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN			13	2030	+			339			Extracellular (Potential).		B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	c.1015G>C	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445676	0.84101	.	.	ENSG00000137103	ENST00000377991;ENST00000377988	T;T	0.48522	0.81;0.81	4.98	4.98	0.66077	.	.	.	.	.	T	0.72558	0.3475	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77501	-0.2564	9	0.66056	D	0.02	.	17.2047	0.86914	0.0:0.0:1.0:0.0	.	339	A6NDV4	TMM8B_HUMAN	H	339	ENSP00000367230:D339H;ENSP00000367227:D339H	ENSP00000367227:D339H	D	+	1	0	TMEM8B	35843186	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.884000	0.87274	2.473000	0.83533	0.555000	0.69702	GAC		PASS	0.602	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		41	240	41	240	---	---	---	---
OR2S2	56656	broad.mit.edu	37	9	35957495	35957495	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:35957495C>G	ENST00000341959.2	-	1	656	c.601G>C	c.(601-603)Gag>Cag	p.E201Q		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	201					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E201Q(1)|p.E191Q(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TTCGTCACCTCCATGCTGATC	0.493																																					Pancreas(172;293 2036 17878 24427 30946)	uc011lpi.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(601-603)GAG>CAG		olfactory receptor, family 2, subfamily S,							113.0	108.0	110.0					9																	35957495		2203	4300	6503	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957495C>G	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.601G>C	9.37:g.35957495C>G	ENSP00000344040:p.Glu201Gln						p.E201Q	NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	657	-			201			Helical; Name=5; (Potential).		Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.601G>C	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	C	1.555	-0.538146	0.04082	.	.	ENSG00000122718	ENST00000341959	T	0.00084	8.75	4.17	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.972394	0.08383	N	0.954196	T	0.00109	0.0003	N	0.14661	0.345	0.09310	N	1	B	0.23990	0.095	B	0.14578	0.011	T	0.18335	-1.0340	10	0.52906	T	0.07	.	7.3993	0.26954	0.1923:0.6218:0.1859:0.0	.	201	Q9NQN1	OR2S1_HUMAN	Q	201	ENSP00000344040:E201Q	ENSP00000344040:E201Q	E	-	1	0	OR2S2	35947495	0.000000	0.05858	0.247000	0.24249	0.003000	0.03518	-0.117000	0.10708	1.323000	0.45263	0.655000	0.94253	GAG		PASS	0.493	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		21	133	21	133	---	---	---	---
OR2S2	56656	broad.mit.edu	37	9	35957889	35957889	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:35957889G>C	ENST00000341959.2	-	1	262	c.207C>G	c.(205-207)ttC>ttG	p.F69L		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	69					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F59L(1)|p.F69L(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AGATGTCCAGGAAGGAGAGGT	0.567																																					Pancreas(172;293 2036 17878 24427 30946)	uc011lpi.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(205-207)TTC>TTG		olfactory receptor, family 2, subfamily S,							90.0	73.0	79.0					9																	35957889		2203	4300	6503	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957889G>C	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.207C>G	9.37:g.35957889G>C	ENSP00000344040:p.Phe69Leu						p.F69L	NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	263	-			69			Helical; Name=2; (Potential).		Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.207C>G	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	G	8.848	0.943930	0.18281	.	.	ENSG00000122718	ENST00000341959	T	0.00966	5.49	4.17	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.120725	0.37761	N	0.001949	T	0.00875	0.0029	L	0.35414	1.06	0.24986	N	0.991563	B	0.28419	0.211	B	0.23574	0.047	T	0.48714	-0.9011	10	0.41790	T	0.15	.	6.7368	0.23413	0.207:0.0:0.793:0.0	.	69	Q9NQN1	OR2S1_HUMAN	L	69	ENSP00000344040:F69L	ENSP00000344040:F69L	F	-	3	2	OR2S2	35947889	0.012000	0.17670	1.000000	0.80357	0.389000	0.30415	0.127000	0.15790	1.341000	0.45600	-0.150000	0.13652	TTC		PASS	0.567	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		19	35	19	35	---	---	---	---
PIP5K1B	8395	broad.mit.edu	37	9	71478840	71478840	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:71478840C>G	ENST00000265382.3	+	5	462	c.157C>G	c.(157-159)Ctt>Gtt	p.L53V	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.L53V	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	53	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.L53V(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ACGAGATGTTCTTATGCAAGA	0.403																																						uc004agu.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(157-159)CTT>GTT		phosphatidylinositol-4-phosphate 5-kinase, type							231.0	213.0	219.0					9																	71478840		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71478840C>G	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.157C>G	9.37:g.71478840C>G	ENSP00000265382:p.Leu53Val					PIP5K1B_uc011lrq.1_Missense_Mutation_p.L53V|PIP5K1B_uc004agv.2_RNA	p.L53V	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	5	462	+			53			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.157C>G	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758788	0.89843	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000377284;ENST00000437200;ENST00000440050	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.28	5.28	0.74379	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.114641	0.64402	D	0.000010	T	0.70219	0.3199	M	0.92122	3.275	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.78347	-0.2239	10	0.87932	D	0	-9.4152	19.2738	0.94021	0.0:1.0:0.0:0.0	.	53	O14986	PI51B_HUMAN	V	53	ENSP00000438082:L53V;ENSP00000265382:L53V;ENSP00000366498:L53V;ENSP00000398587:L53V;ENSP00000411477:L53V	ENSP00000265382:L53V	L	+	1	0	PIP5K1B	70668660	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.588000	0.82629	2.624000	0.88883	0.655000	0.94253	CTT		PASS	0.403	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		7	301	7	301	---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90312079	90312079	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:90312079C>G	ENST00000408954.3	+	22	2906	c.2571C>G	c.(2569-2571)ctC>ctG	p.L857L	DAPK1_ENST00000491893.1_Intron|DAPK1_ENST00000469640.2_Silent_p.L857L|DAPK1_ENST00000358077.5_Silent_p.L857L|DAPK1_ENST00000472284.1_Silent_p.L857L	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	857					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.L858L(1)|p.L857L(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						TTTTCTGGCTCAGTTTCCTGA	0.488									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(2569-2571)CTC>CTG		death-associated protein kinase 1							131.0	123.0	126.0					9																	90312079		1926	4139	6065	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.chr9:90312079C>G	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.2571C>G	9.37:g.90312079C>G						DAPK1_uc004apd.2_Silent_p.L857L|DAPK1_uc011ltg.1_Intron|DAPK1_uc011lth.1_Silent_p.L594L	p.L857L	NM_004938	NP_004929	P53355	DAPK1_HUMAN			22	2709	+			857					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.2571C>G	CCDS43842.1																																																																																				PASS	0.488	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		18	96	18	96	---	---	---	---
NUTM2G	441457	broad.mit.edu	37	9	99694157	99694157	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:99694157C>G	ENST00000372322.3	+	2	191	c.170C>G	c.(169-171)tCt>tGt	p.S57C	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Missense_Mutation_p.S57C	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	57								p.S57C(2)									CTGGTGCTCTCTGCCTTCCCC	0.657																																						uc004awq.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(169-171)TCT>TGT		hypothetical protein LOC441457							16.0	22.0	20.0					9																	99694157		1882	4083	5965	SO:0001583	missense	441457							g.chr9:99694157C>G		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.170C>G	9.37:g.99694157C>G	ENSP00000361397:p.Ser57Cys						p.S57C	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN			2	885	+		Acute lymphoblastic leukemia(62;0.0527)	57					A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.170C>G	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	9.693	1.152331	0.21371	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159	T;T	0.36340	1.26;1.26	1.03	0.0762	0.14402	.	.	.	.	.	T	0.42268	0.1195	L	0.58810	1.83	0.09310	N	1	D	0.63880	0.993	P	0.56514	0.8	T	0.25293	-1.0136	9	0.59425	D	0.04	.	3.5464	0.07829	0.0:0.7175:0.0:0.2825	.	57	Q5VZR2-2	.	C	57	ENSP00000346670:S57C;ENSP00000361397:S57C	ENSP00000346670:S57C	S	+	2	0	FAM22G	98733978	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.534000	0.23098	0.030000	0.15379	-0.459000	0.05422	TCT		PASS	0.657	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		3	18	3	18	---	---	---	---
TMEM246	84302	broad.mit.edu	37	9	104238938	104238938	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:104238938A>G	ENST00000374851.1	-	4	1584	c.437T>C	c.(436-438)gTg>gCg	p.V146A	TMEM246_ENST00000374847.1_Missense_Mutation_p.V146A|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.V146A|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	146						integral component of membrane (GO:0016021)		p.V146A(1)									ACTACGCTCCACGTTGCACAG	0.557																																						uc004bbm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)GTG>GCG		hypothetical protein LOC84302							92.0	80.0	84.0					9																	104238938		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104238938A>G	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.437T>C	9.37:g.104238938A>G	ENSP00000363984:p.Val146Ala					uc004bbl.1_5'Flank	p.V146A	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			2	759	-		Acute lymphoblastic leukemia(62;0.0527)	146					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.437T>C	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	a	19.79	3.892830	0.72524	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.81	5.81	0.92471	.	0.245822	0.33959	N	0.004400	T	0.68256	0.2981	L	0.60455	1.87	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.65092	-0.6252	9	0.02654	T	1	-21.5925	15.3504	0.74380	1.0:0.0:0.0:0.0	.	146	Q9BRR3	CI125_HUMAN	A	146	.	ENSP00000363980:V146A	V	-	2	0	C9orf125	103278759	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.925000	0.75829	2.214000	0.71695	0.524000	0.50904	GTG		PASS	0.557	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		20	80	20	80	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107560723	107560723	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:107560723G>C	ENST00000374736.3	-	37	5494	c.5100C>G	c.(5098-5100)ctC>ctG	p.L1700L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1700					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.L1700L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CAAAATTAGAGAGCCAGTAGA	0.483																																						uc004bcl.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(5098-5100)CTC>CTG		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						126.0	117.0	120.0					9																	107560723		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107560723G>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5100C>G	9.37:g.107560723G>C							p.L1700L	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	37	5413	-			1700					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.5100C>G	CCDS6762.1																																																																																				PASS	0.483	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		32	67	32	67	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107560846	107560846	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:107560846G>A	ENST00000374736.3	-	37	5371	c.4977C>T	c.(4975-4977)atC>atT	p.I1659I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1659					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.I1659I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGATGACACAGATGGACACAA	0.498																																						uc004bcl.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(4975-4977)ATC>ATT		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						131.0	103.0	112.0					9																	107560846		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107560846G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4977C>T	9.37:g.107560846G>A							p.I1659I	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	37	5290	-			1659			Helical; (Potential).		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.4977C>T	CCDS6762.1																																																																																				PASS	0.498	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		3	62	3	62	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113265483	113265483	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:113265483G>A	ENST00000401783.2	-	6	1654	c.1318C>T	c.(1318-1320)Cat>Tat	p.H440Y	SVEP1_ENST00000302728.8_Missense_Mutation_p.H440Y|SVEP1_ENST00000374461.1_Missense_Mutation_p.H417Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.H417Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	440	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.H440Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGCGGAGATGAGGACATGTT	0.373																																						uc010mtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(1318-1320)CAT>TAT		polydom							121.0	118.0	119.0					9																	113265483		1960	4137	6097	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113265483G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1318C>T	9.37:g.113265483G>A	ENSP00000384917:p.His440Tyr					SVEP1_uc010mua.1_Missense_Mutation_p.H440Y|SVEP1_uc004beu.2_Missense_Mutation_p.H440Y	p.H440Y	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			6	1655	-			440			Sushi 2.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1318C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404877	0.25378	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.71	5.71	0.89125	Complement control module (2);Growth factor, receptor (1);Sushi/SCR/CCP (3);	0.656003	0.15954	N	0.236582	T	0.50017	0.1591	L	0.31157	0.91	0.09310	N	1	B;B;B	0.32717	0.065;0.065;0.381	B;B;B	0.28385	0.089;0.089;0.086	T	0.51317	-0.8721	10	0.59425	D	0.04	.	12.8699	0.57958	0.0:0.0:0.7294:0.2706	.	440;440;440	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	Y	440;417;440;417	ENSP00000384917:H440Y;ENSP00000363593:H417Y;ENSP00000304118:H440Y;ENSP00000363585:H417Y	ENSP00000304118:H440Y	H	-	1	0	SVEP1	112305304	0.809000	0.29036	0.043000	0.18650	0.504000	0.33889	3.363000	0.52321	2.687000	0.91594	0.655000	0.94253	CAT		PASS	0.373	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				59	84	59	84	---	---	---	---
ZFP37	7539	broad.mit.edu	37	9	115818839	115818839	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:115818839C>T	ENST00000374227.3	-	1	157	c.130G>A	c.(130-132)Gcg>Acg	p.A44T	ZFP37_ENST00000553380.1_Missense_Mutation_p.A44T|ZFP37_ENST00000555206.1_Missense_Mutation_p.A44T	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	44	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A44T(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCTCTCACCGCGGCGCTGGCC	0.592																																						uc004bgm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(130-132)GCG>ACG		zinc finger protein 37 homolog							169.0	181.0	177.0					9																	115818839		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115818839C>T	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.130G>A	9.37:g.115818839C>T	ENSP00000363344:p.Ala44Thr					ZFP37_uc011lwz.1_Missense_Mutation_p.A44T|ZFP37_uc011lxa.1_Missense_Mutation_p.A44T	p.A44T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			1	158	-			44			KRAB.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.130G>A	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	c	8.329	0.826129	0.16749	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05382	4.7;3.45;5.69	3.42	-0.508	0.11980	Krueppel-associated box (4);	.	.	.	.	T	0.02848	0.0085	N	0.16656	0.425	0.09310	N	1	P;P;P	0.44241	0.795;0.795;0.829	B;B;B	0.28638	0.056;0.056;0.092	T	0.43015	-0.9417	9	0.72032	D	0.01	13.7181	6.3426	0.21330	0.0:0.5426:0.0:0.4574	.	44;44;44	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	T	44	ENSP00000363344:A44T;ENSP00000451310:A44T;ENSP00000452552:A44T	ENSP00000363344:A44T	A	-	1	0	ZFP37	114858660	0.544000	0.26441	0.009000	0.14445	0.157000	0.22087	0.722000	0.25925	-0.106000	0.12110	-0.126000	0.14955	GCG		PASS	0.592	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		109	177	109	177	---	---	---	---
RABGAP1	23637	broad.mit.edu	37	9	125782649	125782649	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:125782649G>A	ENST00000373647.4	+	13	1839	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	569	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.E569K(1)|p.E497K(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CGGTGTCCCTGAAGCTCTTCG	0.443																																						uc011lzh.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(2)	5						c.(1705-1707)GAA>AAA		RAB GTPase activating protein 1							101.0	96.0	98.0					9																	125782649		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125782649G>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1705G>A	9.37:g.125782649G>A	ENSP00000362751:p.Glu569Lys					RABGAP1_uc004bnl.3_RNA	p.E569K	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN			13	1839	+			569			Rab-GAP TBC.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.1705G>A	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	36	5.935695	0.97122	.	.	ENSG00000011454	ENST00000373647	T	0.79033	-1.23	5.66	5.66	0.87406	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.81936	0.4928	M	0.85630	2.765	0.80722	D	1	P	0.35714	0.517	B	0.35931	0.214	T	0.82474	-0.0439	10	0.45353	T	0.12	-27.4289	19.75	0.96263	0.0:0.0:1.0:0.0	.	569	Q9Y3P9	RBGP1_HUMAN	K	569	ENSP00000362751:E569K	ENSP00000362751:E569K	E	+	1	0	RABGAP1	124822470	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.444000	0.97578	2.658000	0.90341	0.655000	0.94253	GAA		PASS	0.443	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		20	104	20	104	---	---	---	---
RALGPS1	9649	broad.mit.edu	37	9	129937052	129937052	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:129937052G>T	ENST00000259351.5	+	11	1168	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	RALGPS1_ENST00000373434.1_Missense_Mutation_p.D301Y|RALGPS1_ENST00000373436.1_Missense_Mutation_p.D301Y|RALGPS1_ENST00000424082.2_Missense_Mutation_p.D301Y|RALGPS1_ENST00000394022.3_Missense_Mutation_p.D301Y	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	301					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.D301Y(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TTCCAAGGAAGATCTTGCAGG	0.493																																						uc004bqo.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(901-903)GAT>TAT		Ral GEF with PH domain and SH3 binding motif 1							136.0	119.0	125.0					9																	129937052		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129937052G>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.901G>T	9.37:g.129937052G>T	ENSP00000259351:p.Asp301Tyr					RALGPS1_uc011mab.1_Missense_Mutation_p.D301Y|RALGPS1_uc011mac.1_Missense_Mutation_p.D301Y|RALGPS1_uc004bqq.3_Missense_Mutation_p.D301Y	p.D301Y	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN			11	1168	+			301					B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.901G>T	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924813	0.92319	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373436;ENST00000373434	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.23	5.23	0.72850	Ras guanine nucleotide exchange factor, domain (1);	0.150608	0.56097	D	0.000022	T	0.59473	0.2196	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	0.964;0.965;0.997;1.0	P;D;D;D	0.70227	0.65;0.914;0.935;0.968	T	0.61797	-0.6989	10	0.87932	D	0	.	17.9805	0.89139	0.0:0.0:1.0:0.0	.	301;301;301;301	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	Y	301	ENSP00000259351:D301Y;ENSP00000415630:D301Y;ENSP00000377590:D301Y;ENSP00000362535:D301Y;ENSP00000362533:D301Y	ENSP00000259351:D301Y	D	+	1	0	RALGPS1	128976873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.613000	0.90913	2.716000	0.92895	0.655000	0.94253	GAT		PASS	0.493	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		7	212	7	212	---	---	---	---
DNM1	1759	broad.mit.edu	37	9	130984795	130984795	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:130984795C>G	ENST00000372923.3	+	8	1140	c.1048C>G	c.(1048-1050)Cag>Gag	p.Q350E	DNM1_ENST00000486160.1_Missense_Mutation_p.Q350E|DNM1_ENST00000475805.1_Missense_Mutation_p.Q350E|DNM1_ENST00000341179.7_Missense_Mutation_p.Q350E|DNM1_ENST00000393594.3_Missense_Mutation_p.Q350E	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	350					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.Q350E(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCAGGAGATCAGATCGACAC	0.607																																					GBM(113;146 1575 2722 28670 29921)	uc011mau.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1048-1050)CAG>GAG		dynamin 1 isoform 1							91.0	87.0	88.0					9																	130984795		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130984795C>G	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1048C>G	9.37:g.130984795C>G	ENSP00000362014:p.Gln350Glu					DNM1_uc010mxr.2_Missense_Mutation_p.Q350E|DNM1_uc011mat.1_Missense_Mutation_p.Q350E	p.Q350E	NM_004408	NP_004399	Q05193	DYN1_HUMAN			8	1135	+			350					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1048C>G	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333546	0.60853	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	6.03	6.03	0.97812	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	N	0.04132	-0.27	0.80722	D	1	D;B;D	0.59767	0.985;0.394;0.986	D;B;D	0.73708	0.981;0.255;0.979	T	0.62343	-0.6874	10	0.07030	T	0.85	-0.8561	20.5596	0.99324	0.0:1.0:0.0:0.0	.	350;350;350	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	E	350;350;350;345;350;350	ENSP00000419225:Q350E;ENSP00000345680:Q350E;ENSP00000362014:Q350E;ENSP00000377219:Q350E;ENSP00000420045:Q350E	ENSP00000345680:Q350E	Q	+	1	0	DNM1	130024616	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.999000	0.70665	2.868000	0.98415	0.555000	0.69702	CAG		PASS	0.607	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		18	101	18	101	---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131345472	131345472	+	Silent	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:131345472C>A	ENST00000372731.4	+	15	2033	c.1923C>A	c.(1921-1923)gtC>gtA	p.V641V	SPTAN1_ENST00000358161.5_Silent_p.V641V|SPTAN1_ENST00000372739.3_Silent_p.V641V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	641					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.V641V(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGATTGATGTCAACCACTATG	0.463																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(4)|pancreas(1)	10						c.(1921-1923)GTC>GTA		spectrin, alpha, non-erythrocytic 1							95.0	93.0	94.0					9																	131345472		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131345472C>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1923C>A	9.37:g.131345472C>A						SPTAN1_uc011mbg.1_Silent_p.V641V|SPTAN1_uc011mbh.1_Silent_p.V653V|SPTAN1_uc004bvm.3_Silent_p.V641V|SPTAN1_uc004bvn.3_Silent_p.V641V	p.V641V	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			15	2036	+			641			Spectrin 7.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.1923C>A	CCDS6905.1																																																																																				PASS	0.463	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		3	62	3	62	---	---	---	---
TBC1D13	54662	broad.mit.edu	37	9	131568141	131568141	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:131568141G>A	ENST00000372648.5	+	10	1072	c.922G>A	c.(922-924)Gag>Aag	p.E308K	TBC1D13_ENST00000223865.8_Missense_Mutation_p.E183K|TBC1D13_ENST00000539497.1_Missense_Mutation_p.E127K	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	308	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.E308K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TCCCCAGCAAGAGCAGAACAT	0.597																																						uc010myj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(922-924)GAG>AAG		TBC1 domain family, member 13							69.0	53.0	59.0					9																	131568141		2203	4300	6503	SO:0001583	missense	54662					intracellular	Rab GTPase activator activity	g.chr9:131568141G>A	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.922G>A	9.37:g.131568141G>A	ENSP00000361731:p.Glu308Lys					TBC1D13_uc010myk.2_Missense_Mutation_p.E183K|TBC1D13_uc010myl.2_Missense_Mutation_p.E127K	p.E308K	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN			10	1045	+			308			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	ENST00000372648.5	37	c.922G>A	CCDS6911.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205557	0.39003	.	.	ENSG00000107021	ENST00000372648;ENST00000539497;ENST00000223865	T;T;T	0.21543	2.0;2.0;2.0	4.99	4.99	0.66335	Rab-GAP/TBC domain (4);	0.189961	0.45606	D	0.000350	T	0.09423	0.0232	N	0.03000	-0.44	0.80722	D	1	B;B	0.14012	0.001;0.009	B;B	0.18263	0.002;0.021	T	0.13980	-1.0489	10	0.06494	T	0.89	-29.9998	17.4436	0.87572	0.0:0.0:1.0:0.0	.	183;308	Q9NVG8-2;Q9NVG8	.;TBC13_HUMAN	K	308;127;183	ENSP00000361731:E308K;ENSP00000437751:E127K;ENSP00000223865:E183K	ENSP00000223865:E183K	E	+	1	0	TBC1D13	130607962	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.530000	0.98051	2.599000	0.87857	0.561000	0.74099	GAG		PASS	0.597	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		6	30	6	30	---	---	---	---
PRRC2B	84726	broad.mit.edu	37	9	134348896	134348896	+	Splice_Site	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:134348896A>G	ENST00000357304.4	+	14	2164	c.2109A>G	c.(2107-2109)ggA>ggG	p.G703G	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Splice_Site_p.G703G|PRRC2B_ENST00000405995.1_Splice_Site_p.G703G	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	703							poly(A) RNA binding (GO:0044822)	p.G703G(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTTCTTCAGGACTGATGAAGC	0.502																																						uc004can.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(2107-2109)GGA>GGG		HLA-B associated transcript 2-like							23.0	24.0	24.0					9																	134348896		1955	4143	6098	SO:0001630	splice_region_variant	84726						protein binding	g.chr9:134348896A>G	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2108-1A>G	9.37:g.134348896A>G						BAT2L1_uc010mzj.1_Silent_p.G286G|BAT2L1_uc004cao.3_Silent_p.G61G	p.G703G	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			14	2164	+			703					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.2109A>G	CCDS48044.1																																																																																				PASS	0.502	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Silent	3	13	3	13	---	---	---	---
AK8	158067	broad.mit.edu	37	9	135702386	135702386	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:135702386G>C	ENST00000298545.3	-	8	1133	c.612C>G	c.(610-612)ctC>ctG	p.L204L	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	204	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.L204L(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CTGGCACCATGAGACGGTTCT	0.517																																						uc004cbu.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(610-612)CTC>CTG		putative adenylate kinase-like protein C9orf98							214.0	201.0	205.0					9																	135702386		2203	4300	6503	SO:0001819	synonymous_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702386G>C	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.612C>G	9.37:g.135702386G>C						C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR	p.L204L	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	8	1168	-			204					A8K821|Q8N9W9	Silent	SNP	ENST00000298545.3	37	c.612C>G	CCDS6954.1																																																																																				PASS	0.517	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		52	283	52	283	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135804213	135804213	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:135804213G>C	ENST00000298552.3	-	3	268	c.47C>G	c.(46-48)tCc>tGc	p.S16C	TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.S16C|TSC1_ENST00000403810.1_Missense_Mutation_p.S16C|TSC1_ENST00000545250.1_Missense_Mutation_p.S16C	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	16					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.S16C(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CAGCATGGGGGAGTCCAGCAT	0.502			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			1	Substitution - Missense(1)		lung(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(46-48)TCC>TGC		tuberous sclerosis 1 protein isoform 1							106.0	88.0	94.0					9																	135804213		2203	4300	6503	SO:0001583	missense	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135804213G>C	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.47C>G	9.37:g.135804213G>C	ENSP00000298552:p.Ser16Cys					TSC1_uc004ccb.3_Missense_Mutation_p.S16C|TSC1_uc011mcq.1_Missense_Mutation_p.S16C|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Missense_Mutation_p.S16C|TSC1_uc004ccd.2_Missense_Mutation_p.S16C|TSC1_uc004cce.1_Missense_Mutation_p.S16C	p.S16C	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	3	281	-			16					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.47C>G	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076833	0.76415	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000403810	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	6.17	5.25	0.73442	.	0.048994	0.85682	D	0.000000	D	0.95456	0.8524	M	0.82823	2.61	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;1.0;1.0;0.99;0.992	D	0.95478	0.8558	10	0.87932	D	0	-13.8568	16.1489	0.81599	0.0:0.0:0.8664:0.1336	.	16;16;16;16;16	B7Z897;Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;.;TSC1_HUMAN	C	16	ENSP00000298552:S16C;ENSP00000394524:S16C;ENSP00000444017:S16C;ENSP00000386093:S16C	ENSP00000298552:S16C	S	-	2	0	TSC1	134794034	1.000000	0.71417	0.278000	0.24718	0.669000	0.39330	6.245000	0.72398	2.941000	0.99782	0.655000	0.94253	TCC		PASS	0.502	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			24	116	24	116	---	---	---	---
BRD3	8019	broad.mit.edu	37	9	136917502	136917502	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:136917502T>A	ENST00000303407.7	-	3	462	c.277A>T	c.(277-279)Aat>Tat	p.N93Y	BRD3_ENST00000357885.2_Missense_Mutation_p.N93Y|RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Missense_Mutation_p.N93Y	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	93	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.N93Y(1)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CAATAATAATTATTTTCTAGT	0.358			T	C15orf55	lethal midline carcinoma of young people																																	uc004cew.2				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	NUT|C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	1	Substitution - Missense(1)		lung(1)	stomach(4)|midline_organs(3)|kidney(1)	8						c.(277-279)AAT>TAT		bromodomain containing protein 3							100.0	103.0	102.0					9																	136917502		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136917502T>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.277A>T	9.37:g.136917502T>A	ENSP00000305918:p.Asn93Tyr					BRD3_uc004cex.2_Missense_Mutation_p.N93Y	p.N93Y	NM_007371	NP_031397	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	3	465	-			93			Bromo 1.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.277A>T	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.844379	0.51164	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.32023	1.47;1.47;1.47	4.97	4.97	0.65823	Bromodomain (6);Bromodomain, conserved site (1);	0.195273	0.41938	D	0.000784	T	0.39708	0.1088	M	0.64170	1.965	0.43065	D	0.994691	B;P	0.45078	0.343;0.85	B;P	0.47626	0.232;0.552	T	0.25398	-1.0133	10	0.39692	T	0.17	-19.0728	14.1153	0.65149	0.0:0.0:0.0:1.0	.	93;93	Q15059-2;Q15059	.;BRD3_HUMAN	Y	93	ENSP00000305918:N93Y;ENSP00000360900:N93Y;ENSP00000350557:N93Y	ENSP00000305918:N93Y	N	-	1	0	BRD3	135907323	1.000000	0.71417	0.915000	0.36163	0.993000	0.82548	4.666000	0.61554	1.984000	0.57885	0.459000	0.35465	AAT		PASS	0.358	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		25	98	25	98	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139272375	139272375	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:139272375G>A	ENST00000298532.2	-	21	4272	c.3904C>T	c.(3904-3906)Ccc>Tcc	p.P1302S		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.P1302S(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCTGATAGGGCAGTCTGCTG	0.701																																						uc004chh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3904-3906)CCC>TCC		small nuclear RNA activating complex,							18.0	19.0	19.0					9																	139272375		2186	4270	6456	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139272375G>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.3904C>T	9.37:g.139272375G>A	ENSP00000298532:p.Pro1302Ser						p.P1302S	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	3913	-		Myeloproliferative disorder(178;0.0511)	1302			SNAPC2-binding.			Missense_Mutation	SNP	ENST00000298532.2	37	c.3904C>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.721377	0.30503	.	.	ENSG00000165684	ENST00000298532	T	0.50001	0.76	4.27	0.0542	0.14309	.	0.742677	0.12555	N	0.458701	T	0.33990	0.0882	L	0.40543	1.245	0.22666	N	0.998872	B	0.28082	0.2	B	0.21917	0.037	T	0.19516	-1.0303	10	0.66056	D	0.02	-3.2938	6.7152	0.23300	0.1594:0.2711:0.5695:0.0	.	1302	Q5SXM2	SNPC4_HUMAN	S	1302	ENSP00000298532:P1302S	ENSP00000298532:P1302S	P	-	1	0	SNAPC4	138392196	1.000000	0.71417	0.159000	0.22649	0.720000	0.41350	1.280000	0.33202	-0.330000	0.08514	0.556000	0.70494	CCC		PASS	0.701	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		9	24	9	24	---	---	---	---
RABL6	55684	broad.mit.edu	37	9	139734662	139734662	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:139734662G>C	ENST00000311502.7	+	14	2223	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q	RABL6_ENST00000371675.3_Missense_Mutation_p.E548Q|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371663.4_Missense_Mutation_p.E664Q|RABL6_ENST00000432842.2_3'UTR			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	663	Interaction with CDKN2A.|Lys-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.E741Q(1)|p.E664Q(1)									aaaAGGCAAAGAGGTACTGGC	0.577																																						uc004cji.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1987-1989)GAG>CAG		Rab-like GTP-binding protein 1 isoform 1							50.0	54.0	53.0					9																	139734662		1951	4138	6089	SO:0001583	missense	55684				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding	g.chr9:139734662G>C	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1987G>C	9.37:g.139734662G>C	ENSP00000311134:p.Glu663Gln					C9orf86_uc004cjj.1_Missense_Mutation_p.E664Q|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.E548Q|C9orf86_uc004cjn.1_Missense_Mutation_p.E457Q	p.E663Q	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	14	2255	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	663			Interaction with CDKN2A.|Lys-rich.		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.1987G>C	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	.	10.78	1.445809	0.25987	.	.	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000371675	T;T;T	0.64260	-0.09;-0.09;-0.09	2.62	2.62	0.31277	.	0.266589	0.33938	U	0.004412	T	0.71693	0.3370	M	0.70275	2.135	0.47441	D	0.999427	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.68296	-0.5446	10	0.20519	T	0.43	-32.4432	8.8771	0.35352	0.0:0.0:1.0:0.0	.	664;663	Q3YEC7-2;Q3YEC7	.;PARF_HUMAN	Q	664;663;548	ENSP00000360727:E664Q;ENSP00000311134:E663Q;ENSP00000360740:E548Q	ENSP00000311134:E663Q	E	+	1	0	C9orf86	138854483	0.095000	0.21747	0.995000	0.50966	0.402000	0.30811	0.614000	0.24314	1.759000	0.51996	0.462000	0.41574	GAG		PASS	0.577	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		10	35	10	35	---	---	---	---
RNF208	727800	broad.mit.edu	37	9	140115307	140115307	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:140115307G>C	ENST00000392827.1	-	2	526	c.358C>G	c.(358-360)Cag>Gag	p.Q120E	RNF208_ENST00000391553.1_Missense_Mutation_p.Q120E			Q9H0X6	RN208_HUMAN	ring finger protein 208	120					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q120E(1)		lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ATCACGTACTGATTCACAATG	0.682																																						uc004clz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)CAG>GAG		ring finger protein 208							14.0	20.0	18.0					9																	140115307		2154	4242	6396	SO:0001583	missense	727800						zinc ion binding	g.chr9:140115307G>C	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.358C>G	9.37:g.140115307G>C	ENSP00000376572:p.Gln120Glu						p.Q120E	NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	1	469	-	all_cancers(76;0.0926)		120					A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	37	c.358C>G	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619935	0.46736	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.34072	1.38;1.38	4.01	4.01	0.46588	.	8.375350	0.06282	U	0.697535	T	0.51975	0.1706	L	0.36672	1.1	0.58432	D	0.999995	P	0.52577	0.954	D	0.65140	0.932	T	0.35325	-0.9793	10	0.87932	D	0	-1.8063	12.9549	0.58421	0.0:0.0:1.0:0.0	.	120	Q9H0X6	RN208_HUMAN	E	120	ENSP00000376572:Q120E;ENSP00000375397:Q120E	ENSP00000375397:Q120E	Q	-	1	0	RNF208	139235128	1.000000	0.71417	0.995000	0.50966	0.084000	0.17831	5.111000	0.64628	2.057000	0.61298	0.491000	0.48974	CAG		PASS	0.682	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		12	21	12	21	---	---	---	---
FAM166A	401565	broad.mit.edu	37	9	140140245	140140245	+	Silent	SNP	C	C	T	rs368787356		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:140140245C>T	ENST00000344774.4	-	2	171	c.117G>A	c.(115-117)acG>acA	p.T39T	FAM166A_ENST00000388932.2_Silent_p.T39T	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	39						nucleus (GO:0005634)		p.T39T(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GCAGCTGCCCCGTGGTACGCC	0.602																																						uc004cmi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(115-117)ACG>ACA		hypothetical protein LOC401565		C		0,4404		0,0,2202	44.0	46.0	45.0		117	-10.2	0.0	9		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM166A	NM_001001710.1		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		39/318	140140245	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	401565							g.chr9:140140245C>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.117G>A	9.37:g.140140245C>T							p.T39T	NM_001001710	NP_001001710	Q6J272	F166A_HUMAN			2	172	-			39					A6NND9|Q8N830	Silent	SNP	ENST00000344774.4	37	c.117G>A	CCDS35186.1																																																																																				PASS	0.602	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		16	51	16	51	---	---	---	---
DPH7	92715	broad.mit.edu	37	9	140449841	140449841	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:140449841C>T	ENST00000277540.2	-	9	1366	c.1209G>A	c.(1207-1209)atG>atA	p.M403I	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	403					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)			p.M403I(1)									CATTCTTCCTCATGCCCTCTG	0.582																																						uc004cnk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)ATG>ATA		WD repeat domain 85							155.0	122.0	133.0					9																	140449841		2203	4300	6503	SO:0001583	missense	92715				peptidyl-diphthamide biosynthetic process from peptidyl-histidine			g.chr9:140449841C>T	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.1209G>A	9.37:g.140449841C>T	ENSP00000277540:p.Met403Ile					WDR85_uc004cnj.1_Missense_Mutation_p.M132I|WDR85_uc004cnl.1_Missense_Mutation_p.M227I|WDR85_uc004cnm.1_Missense_Mutation_p.M164I|WDR85_uc004cnn.1_Missense_Mutation_p.M132I|WDR85_uc004cni.2_RNA	p.M403I	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)	9	1367	-	all_cancers(76;0.106)		403					Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.1209G>A	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564810	0.13498	.	.	ENSG00000148399	ENST00000277540	T	0.65549	-0.16	4.01	-5.16	0.02857	.	1.655690	0.02969	N	0.144132	T	0.35335	0.0928	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06197	-1.0840	10	0.28530	T	0.3	-0.0148	0.235	0.00185	0.3306:0.1464:0.19:0.3329	.	403	Q9BTV6	WDR85_HUMAN	I	403	ENSP00000277540:M403I	ENSP00000277540:M403I	M	-	3	0	WDR85	139569662	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.374000	0.07484	-0.835000	0.04234	-0.819000	0.03115	ATG		PASS	0.582	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		17	69	17	69	---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	468776	468776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:468776G>A	ENST00000280886.6	-	5	679	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	DIP2C_ENST00000381496.3_Nonsense_Mutation_p.Q91*	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	198						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.Q198E(1)|p.Q198*(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATGTGGGTCTGAGCCATGACG	0.607																																						uc001ifp.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|breast(1)	breast(4)|ovary(2)|large_intestine(1)	7						c.(592-594)CAG>TAG		DIP2 disco-interacting protein 2 homolog C							67.0	67.0	67.0					10																	468776		2203	4300	6503	SO:0001587	stop_gained	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:468776G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.592C>T	10.37:g.468776G>A	ENSP00000280886:p.Gln198*					DIP2C_uc009xhk.1_Silent_p.L199L	p.Q198*	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	5	682	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	198					B4DPI5|Q5SS78	Nonsense_Mutation	SNP	ENST00000280886.6	37	c.592C>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	.	41	8.791766	0.98956	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	.	.	.	5.43	5.43	0.79202	.	0.181808	0.48767	D	0.000163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-25.4024	19.2402	0.93879	0.0:0.0:1.0:0.0	.	.	.	.	X	198;91	.	ENSP00000280886:Q198X	Q	-	1	0	DIP2C	458776	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	7.809000	0.86057	2.543000	0.85770	0.467000	0.42956	CAG		PASS	0.607	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		22	119	22	119	---	---	---	---
AKR1C2	1646	broad.mit.edu	37	10	5040915	5040915	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:5040915C>A	ENST00000380753.4	-	5	659	c.472G>T	c.(472-474)Gga>Tga	p.G158*	RP11-499O7.7_ENST00000440414.1_RNA|RP11-499O7.7_ENST00000451575.2_RNA|AKR1C2_ENST00000421196.3_Nonsense_Mutation_p.G132*|AKR1C2_ENST00000407674.1_Nonsense_Mutation_p.G158*	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	158					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.G158*(1)		breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	TTGGCCAATCCTGCATCTTTA	0.473																																						uc010qan.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(472-474)GGA>TGA		aldo-keto reductase family 1, member C2	NADH(DB00157)|Ursodeoxycholic acid(DB01586)						150.0	129.0	136.0					10																	5040915		2203	4300	6503	SO:0001587	stop_gained	1646				digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5040915C>A	L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.472G>T	10.37:g.5040915C>A	ENSP00000370129:p.Gly158*					AKR1E2_uc001ihl.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C2_uc009xhy.2_Nonsense_Mutation_p.G132*|AKR1C2_uc001ihs.2_Nonsense_Mutation_p.G158*|AKR1C2_uc001iht.2_Nonsense_Mutation_p.G158*	p.G158*	NM_205845	NP_995317	P52895	AK1C2_HUMAN			5	651	-			158					A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Nonsense_Mutation	SNP	ENST00000380753.4	37	c.472G>T	CCDS7062.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161030	0.78226	.	.	ENSG00000151632	ENST00000380753;ENST00000421196;ENST00000407674	.	.	.	2.79	2.79	0.32731	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.3268	0.49452	0.0:1.0:0.0:0.0	.	.	.	.	X	158;132;158	.	ENSP00000370129:G158X	G	-	1	0	AKR1C2	5030915	1.000000	0.71417	0.905000	0.35620	0.101000	0.19017	6.209000	0.72171	1.539000	0.49286	0.514000	0.50259	GGA		PASS	0.473	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046531.1	NM_001354		51	107	51	107	---	---	---	---
PRKCQ	5588	broad.mit.edu	37	10	6533699	6533699	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:6533699C>T	ENST00000263125.5	-	8	835	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	PRKCQ_ENST00000539722.1_Missense_Mutation_p.E121K|PRKCQ_ENST00000397176.2_Missense_Mutation_p.E246K	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	246					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.E246K(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CCACAGTGTTCACAGAAGGTC	0.517																																					Ovarian(50;572 1126 10530 25349 30594)	uc001ijj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|large_intestine(1)	6						c.(736-738)GAA>AAA		protein kinase C, theta							132.0	122.0	125.0					10																	6533699		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6533699C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.736G>A	10.37:g.6533699C>T	ENSP00000263125:p.Glu246Lys					PRKCQ_uc009xim.1_Missense_Mutation_p.E246K|PRKCQ_uc001iji.1_Missense_Mutation_p.E279K|PRKCQ_uc009xin.1_Missense_Mutation_p.E210K|PRKCQ_uc010qax.1_Missense_Mutation_p.E121K	p.E246K	NM_006257	NP_006248	Q04759	KPCT_HUMAN			8	811	-			246			Phorbol-ester/DAG-type 2.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.736G>A	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	.	19.87	3.908001	0.72868	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	D;D;D	0.92397	-3.03;-3.03;-3.03	5.2	5.2	0.72013	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.047458	0.85682	D	0.000000	D	0.92237	0.7538	L	0.39566	1.225	0.80722	D	1	P;P;P	0.48640	0.776;0.855;0.913	P;P;P	0.51016	0.497;0.547;0.656	D	0.93259	0.6641	10	0.87932	D	0	.	18.724	0.91705	0.0:1.0:0.0:0.0	.	121;246;246	B4DF52;Q04759-2;Q04759	.;.;KPCT_HUMAN	K	246;246;121	ENSP00000263125:E246K;ENSP00000380361:E246K;ENSP00000441752:E121K	ENSP00000263125:E246K	E	-	1	0	PRKCQ	6573705	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	4.770000	0.62309	2.407000	0.81776	0.655000	0.94253	GAA		PASS	0.517	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		29	156	29	156	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12150012	12150012	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:12150012C>G	ENST00000263035.4	+	12	2214	c.2152C>G	c.(2152-2154)Cag>Gag	p.Q718E		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	718					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.Q718E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GCGTTTCCTGCAGGTAAGGGT	0.527																																						uc001ild.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2152-2154)CAG>GAG		dehydrogenase E1 and transketolase domain							130.0	106.0	114.0					10																	12150012		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12150012C>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2152C>G	10.37:g.12150012C>G	ENSP00000263035:p.Gln718Glu						p.Q718E	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		12	2251	+		Renal(717;0.228)	718					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2152C>G	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126591	0.77549	.	.	ENSG00000181192	ENST00000263035	D	0.92249	-3.0	5.61	5.61	0.85477	Transketolase-like, pyrimidine-binding domain (2);	0.124764	0.64402	D	0.000014	D	0.96288	0.8789	M	0.87758	2.905	0.80722	D	1	P	0.39883	0.693	P	0.56514	0.8	D	0.96459	0.9340	10	0.87932	D	0	-10.0241	17.8813	0.88841	0.0:1.0:0.0:0.0	.	718	Q96HY7	DHTK1_HUMAN	E	718	ENSP00000263035:Q718E	ENSP00000263035:Q718E	Q	+	1	0	DHTKD1	12190018	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	6.986000	0.76200	2.666000	0.90696	0.456000	0.33151	CAG		PASS	0.527	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		15	97	15	97	---	---	---	---
CDC123	8872	broad.mit.edu	37	10	12279228	12279228	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:12279228C>G	ENST00000281141.4	+	9	931	c.651C>G	c.(649-651)ttC>ttG	p.F217L	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Intron	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	217					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)		p.F217L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						AAGACTTTTTCAAGAAACACA	0.289																																						uc001ill.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(649-651)TTC>TTG		cell division cycle 123							66.0	71.0	70.0					10																	12279228		2202	4284	6486	SO:0001583	missense	8872				cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		g.chr10:12279228C>G	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.651C>G	10.37:g.12279228C>G	ENSP00000281141:p.Phe217Leu					CDC123_uc001ilm.2_Missense_Mutation_p.F229L	p.F217L	NM_006023	NP_006014	O75794	CD123_HUMAN			9	935	+			217					A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Missense_Mutation	SNP	ENST00000281141.4	37	c.651C>G	CCDS7090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.254117|4.254117	0.80135|0.80135	.|.	.|.	ENSG00000151465|ENSG00000151465	ENST00000281141;ENST00000455773|ENST00000440613	.|.	.|.	.|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.044335|.	0.85682|.	N|.	0.000000|.	T|T	0.73992|0.73992	0.3658|0.3658	M|M	0.81239|0.81239	2.535|2.535	0.80722|0.80722	D|D	1|1	D|.	0.63046|.	0.992|.	D|.	0.63033|.	0.91|.	T|T	0.75682|0.75682	-0.3233|-0.3233	9|5	0.46703|.	T|.	0.11|.	-15.315|-15.315	10.8373|10.8373	0.46694|0.46694	0.0:0.9115:0.0:0.0885|0.0:0.9115:0.0:0.0885	.|.	217|.	O75794|.	CD123_HUMAN|.	L|E	217;175|71	.|.	ENSP00000281141:F217L|.	F|Q	+|+	3|1	2|0	CDC123|CDC123	12319234|12319234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.624000|2.624000	0.46444|0.46444	2.348000|2.348000	0.79779|0.79779	0.637000|0.637000	0.83480|0.83480	TTC|CAA		PASS	0.289	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023		8	141	8	141	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16911750	16911750	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:16911750G>A	ENST00000377833.4	-	59	9404	c.9339C>T	c.(9337-9339)tgC>tgT	p.C3113C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3113	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.C3113C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTTGGAACCGCAGAATTTGC	0.478																																						uc001ioo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9337-9339)TGC>TGT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						144.0	146.0	145.0					10																	16911750		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16911750G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9339C>T	10.37:g.16911750G>A						CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.C469C	p.C3113C	NM_001081	NP_001072	O60494	CUBN_HUMAN			59	9391	-			3113			CUB 23.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.9339C>T	CCDS7113.1																																																																																				PASS	0.478	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		40	225	40	225	---	---	---	---
PRTFDC1	56952	broad.mit.edu	37	10	25231336	25231336	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:25231336C>G	ENST00000320152.6	-	2	106	c.78G>C	c.(76-78)ttG>ttC	p.L26F	PRTFDC1_ENST00000376376.3_Missense_Mutation_p.L26F|PRTFDC1_ENST00000376378.1_Missense_Mutation_p.L26F	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	26					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)	p.L26F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TGAATAAATTCAAGTCATACC	0.358																																						uc001ise.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)TTG>TTC		phosphoribosyl transferase domain containing 1							199.0	177.0	184.0					10																	25231336		2203	4300	6503	SO:0001583	missense	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25231336C>G	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.78G>C	10.37:g.25231336C>G	ENSP00000318602:p.Leu26Phe					PRTFDC1_uc010qdd.1_Missense_Mutation_p.L26F|PRTFDC1_uc001isf.1_RNA|PRTFDC1_uc009xkm.1_RNA	p.L26F	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN			2	107	-			26					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	c.78G>C	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940332	0.73557	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378;ENST00000376376	D;D;D	0.99875	-7.4;-7.06;-6.6	5.59	2.74	0.32292	.	0.000000	0.64402	D	0.000001	D	0.99768	0.9905	M	0.76938	2.355	0.50313	D	0.999868	D;P	0.89917	1.0;0.739	D;B	0.83275	0.996;0.299	D	0.97849	1.0273	10	0.52906	T	0.07	.	10.0882	0.42432	0.0:0.7845:0.0:0.2155	.	26;26	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	F	26	ENSP00000318602:L26F;ENSP00000365558:L26F;ENSP00000365556:L26F	ENSP00000318602:L26F	L	-	3	2	PRTFDC1	25271342	1.000000	0.71417	0.823000	0.32752	0.997000	0.91878	2.393000	0.44442	0.721000	0.32231	0.655000	0.94253	TTG		PASS	0.358	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		32	180	32	180	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27306664	27306664	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:27306664T>A	ENST00000376087.4	-	30	4438	c.4273A>T	c.(4273-4275)Aca>Tca	p.T1425S	ANKRD26_ENST00000436985.2_Missense_Mutation_p.T1441S|ANKRD26_ENST00000376070.3_Missense_Mutation_p.T982S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1424					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.T1425S(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGGTTCTTTGTATCCAGATGT	0.328																																						uc001ith.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(4270-4272)ACA>TCA		ankyrin repeat domain 26							69.0	64.0	66.0					10																	27306664		1802	4068	5870	SO:0001583	missense	22852					centrosome		g.chr10:27306664T>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4273A>T	10.37:g.27306664T>A	ENSP00000365255:p.Thr1425Ser					ANKRD26_uc001itg.2_Missense_Mutation_p.T1111S|ANKRD26_uc009xku.1_Missense_Mutation_p.T1425S	p.T1424S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			30	4442	-			1424			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.4270A>T	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	5.205	0.223353	0.09863	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.77877	-1.13;-1.13;-1.13	4.83	-4.99	0.03010	.	1.152860	0.06807	N	0.789816	T	0.51907	0.1702	N	0.12182	0.205	0.09310	N	1	B;B;B	0.14012	0.009;0.005;0.002	B;B;B	0.13407	0.009;0.004;0.002	T	0.35500	-0.9786	10	0.14656	T	0.56	.	4.2083	0.10498	0.3567:0.3462:0.0:0.2971	.	1425;1424;1441	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	S	982;1425;1441	ENSP00000365238:T982S;ENSP00000365255:T1425S;ENSP00000405112:T1441S	ENSP00000365238:T982S	T	-	1	0	ANKRD26	27346670	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.254000	0.08781	-0.515000	0.06479	0.379000	0.24179	ACA		PASS	0.328	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			39	110	39	110	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34620181	34620181	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:34620181C>G	ENST00000374789.3	-	19	3031	c.2706G>C	c.(2704-2706)ttG>ttC	p.L902F	PARD3_ENST00000545693.1_Missense_Mutation_p.L886F|PARD3_ENST00000374790.3_Missense_Mutation_p.L842F|PARD3_ENST00000374776.1_Missense_Mutation_p.L856F|PARD3_ENST00000374794.3_Missense_Mutation_p.L827F|PARD3_ENST00000545260.1_Missense_Mutation_p.L812F|PARD3_ENST00000374773.1_Missense_Mutation_p.L869F|PARD3_ENST00000374788.3_Missense_Mutation_p.L899F|PARD3_ENST00000544292.1_Missense_Mutation_p.L615F|PARD3_ENST00000346874.4_Missense_Mutation_p.L902F|PARD3_ENST00000350537.4_Missense_Mutation_p.L856F|PARD3_ENST00000340077.5_Missense_Mutation_p.L899F|PARD3_ENST00000466092.1_5'UTR	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	902	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.L902F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TATCCCCATTCAAAGTCACCT	0.532																																						uc010qej.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2704-2706)TTG>TTC		partitioning-defective protein 3 homolog							108.0	95.0	100.0					10																	34620181		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34620181C>G	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2706G>C	10.37:g.34620181C>G	ENSP00000363921:p.Leu902Phe					PARD3_uc010qek.1_Missense_Mutation_p.L899F|PARD3_uc010qel.1_Missense_Mutation_p.L902F|PARD3_uc010qem.1_Missense_Mutation_p.L886F|PARD3_uc010qen.1_Missense_Mutation_p.L856F|PARD3_uc010qeo.1_Missense_Mutation_p.L856F|PARD3_uc010qep.1_Missense_Mutation_p.L812F|PARD3_uc010qeq.1_Missense_Mutation_p.L827F|PARD3_uc001ixo.1_Missense_Mutation_p.L615F|PARD3_uc001ixp.1_Missense_Mutation_p.L733F|PARD3_uc001ixq.1_Missense_Mutation_p.L856F|PARD3_uc001ixr.1_Missense_Mutation_p.L899F|PARD3_uc001ixt.1_Missense_Mutation_p.L720F|PARD3_uc001ixu.1_Missense_Mutation_p.L844F|PARD3_uc001ixs.1_Missense_Mutation_p.L525F	p.L902F	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			19	2706	-		Breast(68;0.0707)	902			Interacts with PRKCZ (By similarity).		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.2706G>C	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205891	0.58234	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.73	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.60455	1.87	0.53688	D	0.999976	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999;0.995;0.999;0.992;0.999;0.983;0.991;0.999;0.991;0.991;0.981	D;D;D;D;D;D;D;P;D;P;D;D;P;D;D	0.91635	0.986;0.994;0.999;0.986;0.999;0.979;0.986;0.887;0.969;0.887;0.924;0.978;0.823;0.937;0.914	T	0.33420	-0.9869	10	0.39692	T	0.17	.	10.92	0.47158	0.0:0.6884:0.2446:0.067	.	827;812;856;856;886;902;899;902;842;886;869;899;856;868;615	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	F	886;812;902;899;902;827;856;842;856;899;869;615	ENSP00000443147:L886F;ENSP00000440857:L812F;ENSP00000363921:L902F;ENSP00000363920:L899F;ENSP00000340591:L902F;ENSP00000363926:L827F;ENSP00000311986:L856F;ENSP00000363922:L842F;ENSP00000363908:L856F;ENSP00000341844:L899F;ENSP00000363905:L869F;ENSP00000444429:L615F	ENSP00000341844:L899F	L	-	3	2	PARD3	34660187	0.992000	0.36948	0.955000	0.39395	0.953000	0.61014	0.450000	0.21762	0.735000	0.32537	0.650000	0.86243	TTG		PASS	0.532	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		21	105	21	105	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38345149	38345149	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:38345149G>A	ENST00000458705.2	+	5	2252	c.2094G>A	c.(2092-2094)ggG>ggA	p.G698G	ZNF33A_ENST00000374618.3_Silent_p.G699G|ZNF33A_ENST00000432900.2_Silent_p.G705G|ZNF33A_ENST00000307441.9_Silent_p.G698G|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	698					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.G698G(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ATGAATGTGGGAAATTCTTCA	0.383																																						uc001izh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2092-2094)GGG>GGA		zinc finger protein 33A isoform b							116.0	111.0	113.0					10																	38345149		2203	4300	6503	SO:0001819	synonymous_variant	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38345149G>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.2094G>A	10.37:g.38345149G>A						ZNF33A_uc001izg.2_Silent_p.G699G|ZNF33A_uc010qev.1_Silent_p.G705G|ZNF33A_uc001izi.1_Intron	p.G698G	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	2272	+			698			C2H2-type 14.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	c.2094G>A	CCDS31182.1																																																																																				PASS	0.383	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		24	174	24	174	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43088960	43088960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:43088960G>A	ENST00000359467.3	-	5	1552	c.1438C>T	c.(1438-1440)Caa>Taa	p.Q480*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	480					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.Q480*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGTGACTTTTGACAAAAGGAT	0.393																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1438-1440)CAA>TAA		zinc finger protein 33B							95.0	89.0	91.0					10																	43088960		2203	4300	6503	SO:0001587	stop_gained	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088960G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1438C>T	10.37:g.43088960G>A	ENSP00000352444:p.Gln480*					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Nonsense_Mutation_p.Q368*|ZNF33B_uc001jad.2_Intron	p.Q480*	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	1553	-			480			C2H2-type 6.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Nonsense_Mutation	SNP	ENST00000359467.3	37	c.1438C>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	36	5.861462	0.97036	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	.	.	.	2.58	2.58	0.30949	.	0.000000	0.30473	N	0.009541	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	7.5494	0.27786	0.0:0.2679:0.7321:0.0	.	.	.	.	X	480;446	.	ENSP00000352444:Q480X	Q	-	1	0	ZNF33B	42408966	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	-1.195000	0.03043	1.777000	0.52277	0.416000	0.27883	CAA		PASS	0.393	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		29	251	29	251	---	---	---	---
RET	5979	broad.mit.edu	37	10	43615124	43615124	+	Silent	SNP	C	C	T	rs201816539		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:43615124C>T	ENST00000355710.3	+	14	2770	c.2538C>T	c.(2536-2538)ctC>ctT	p.L846L	RET_ENST00000340058.5_Silent_p.L846L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	846	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L846L(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGCGGGCCCTCACCATGGGCG	0.647		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				C|||	1	0.000199681	0.0	0.0	5008	,	,		16219	0.0		0.001	False		,,,				2504	0.0				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		1	Substitution - coding silent(1)		lung(1)	thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(2536-2538)CTC>CTT		ret proto-oncogene isoform a	Sunitinib(DB01268)						52.0	47.0	48.0					10																	43615124		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43615124C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2538C>T	10.37:g.43615124C>T						RET_uc001jak.1_Silent_p.L846L|RET_uc010qez.1_Silent_p.L592L	p.L846L	NM_020975	NP_066124	P07949	RET_HUMAN			14	2728	+		Ovarian(717;0.0423)	846			Protein kinase.|Cytoplasmic (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.2538C>T	CCDS7200.1																																																																																				PASS	0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		19	71	19	71	---	---	---	---
NPY4R	5540	broad.mit.edu	37	10	47086923	47086923	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:47086923C>T	ENST00000395716.1	+	2	225	c.140C>T	c.(139-141)tCc>tTc	p.S47F	NPY4R_ENST00000374312.1_Missense_Mutation_p.S47F			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	47					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.S47F(1)									ATCGTCACTTCCTACAGCATT	0.522																																						uc001jee.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(139-141)TCC>TTC		pancreatic polypeptide receptor 1							241.0	212.0	222.0					10																	47086923		2203	4300	6503	SO:0001583	missense	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47086923C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.140C>T	10.37:g.47086923C>T	ENSP00000379066:p.Ser47Phe					ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.S47F	p.S47F	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	559	+			47			Helical; Name=1; (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.140C>T	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394319	0.42410	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.35236	1.32;1.32	5.18	2.26	0.28386	.	0.258488	0.38326	N	0.001734	T	0.30039	0.0752	L	0.56769	1.78	0.34911	D	0.747504	P	0.43973	0.823	B	0.40165	0.321	T	0.34304	-0.9834	10	0.33141	T	0.24	.	6.7642	0.23558	0.0:0.6877:0.1465:0.1657	.	47	P50391	NPY4R_HUMAN	F	47	ENSP00000363431:S47F;ENSP00000379066:S47F	ENSP00000363431:S47F	S	+	2	0	PPYR1	46506929	0.979000	0.34478	0.325000	0.25375	0.768000	0.43524	3.110000	0.50352	0.280000	0.22209	0.655000	0.94253	TCC		PASS	0.522	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			15	304	15	304	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48389546	48389546	+	Silent	SNP	G	G	A	rs200626545		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:48389546G>A	ENST00000224600.4	-	1	1445	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	444	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.F444F(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAAAACTATCGAAGCGCAGGT	0.617																																						uc001jez.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1330-1332)TTC>TTT		retinol-binding protein 3 precursor	Vitamin A(DB00162)						68.0	59.0	62.0					10																	48389546		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389546G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1332C>T	10.37:g.48389546G>A							p.F444F	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1446	-			444			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1332C>T	CCDS7218.1																																																																																				PASS	0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		14	63	14	63	---	---	---	---
CSTF2T	23283	broad.mit.edu	37	10	53458459	53458459	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:53458459C>G	ENST00000331173.4	-	1	896	c.851G>C	c.(850-852)gGa>gCa	p.G284A	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	284	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G284A(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CTGCATTGCTCCTCCAGGAGT	0.577																																						uc001jjp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)GGA>GCA		cleavage stimulation factor, 3' pre-RNA, subunit							63.0	63.0	63.0					10																	53458459		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458459C>G	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.851G>C	10.37:g.53458459C>G	ENSP00000332444:p.Gly284Ala					PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	p.G284A	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	897	-			284			Gly-rich.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.851G>C	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377274	0.61735	.	.	ENSG00000177613	ENST00000331173	T	0.22539	1.95	4.7	4.7	0.59300	.	0.060679	0.64402	D	0.000003	T	0.33585	0.0868	L	0.31065	0.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01977	-1.1236	10	0.33940	T	0.23	-5.7565	15.5353	0.75998	0.0:1.0:0.0:0.0	.	284	Q9H0L4	CSTFT_HUMAN	A	284	ENSP00000332444:G284A	ENSP00000332444:G284A	G	-	2	0	CSTF2T	53128465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.111000	0.50360	2.613000	0.88420	0.655000	0.94253	GGA		PASS	0.577	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		24	157	24	157	---	---	---	---
ADO	84890	broad.mit.edu	37	10	64565598	64565598	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:64565598G>C	ENST00000373783.1	+	1	1083	c.779G>C	c.(778-780)gGa>gCa	p.G260A	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	260						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)	p.G260A(1)		lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGTGCGAGGGAGAACCCTAT	0.652																																						uc001jmg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GGA>GCA		2-aminoethanethiol (cysteamine) dioxygenase							13.0	16.0	15.0					10																	64565598		2182	4269	6451	SO:0001583	missense	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64565598G>C	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"""cysteamine dioxygenase"""	611392	"""chromosome 10 open reading frame 22"""	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.779G>C	10.37:g.64565598G>C	ENSP00000362888:p.Gly260Ala						p.G260A	NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN			1	1083	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		260					B1AL29	Missense_Mutation	SNP	ENST00000373783.1	37	c.779G>C	CCDS7266.2	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174020	0.57692	.	.	ENSG00000181915	ENST00000373783	T	0.42513	0.97	5.3	5.3	0.74995	.	0.060469	0.64402	D	0.000004	T	0.41650	0.1168	M	0.67517	2.055	0.50813	D	0.999895	P	0.41978	0.767	B	0.39027	0.288	T	0.36986	-0.9725	10	0.09338	T	0.73	-13.5868	17.7112	0.88322	0.0:0.0:1.0:0.0	.	260	Q96SZ5	AEDO_HUMAN	A	260	ENSP00000362888:G260A	ENSP00000362888:G260A	G	+	2	0	ADO	64235604	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.791000	0.62460	2.463000	0.83235	0.650000	0.86243	GGA		PASS	0.652	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		2	2	2	2	---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64573644	64573644	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:64573644G>T	ENST00000242480.3	-	2	1079	c.754C>A	c.(754-756)Cca>Aca	p.P252T	EGR2_ENST00000439032.1_Missense_Mutation_p.P252T|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Missense_Mutation_p.P202T	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	252					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.P252T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GTGTCCAGTGGGCAGGGAAAG	0.597																																						uc010qim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(754-756)CCA>ACA		early growth response 2 protein isoform a							54.0	56.0	55.0					10																	64573644		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573644G>T	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.754C>A	10.37:g.64573644G>T	ENSP00000242480:p.Pro252Thr					EGR2_uc010qin.1_Missense_Mutation_p.P202T|EGR2_uc001jmi.2_Missense_Mutation_p.P252T|EGR2_uc010qio.1_Missense_Mutation_p.P265T|EGR2_uc009xph.2_Missense_Mutation_p.P252T	p.P252T	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			3	908	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		252					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.754C>A	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061168	0.55432	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.13901	2.55;2.55;2.61	4.96	4.96	0.65561	.	0.057573	0.64402	D	0.000001	T	0.21631	0.0521	L	0.42245	1.32	0.58432	D	0.999995	D;P	0.54964	0.969;0.816	P;B	0.53401	0.725;0.291	T	0.00217	-1.1909	10	0.59425	D	0.04	-20.7152	13.4744	0.61299	0.0:0.1582:0.8418:0.0	.	202;252	P11161-2;P11161	.;EGR2_HUMAN	T	252;252;202	ENSP00000242480:P252T;ENSP00000402040:P252T;ENSP00000387634:P202T	ENSP00000242480:P252T	P	-	1	0	EGR2	64243650	0.998000	0.40836	0.781000	0.31783	0.978000	0.69477	3.099000	0.50267	2.558000	0.86282	0.655000	0.94253	CCA		PASS	0.597	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		26	62	26	62	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69934114	69934114	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:69934114G>C	ENST00000358913.5	+	11	2753	c.2265G>C	c.(2263-2265)caG>caC	p.Q755H	MYPN_ENST00000354393.2_Missense_Mutation_p.Q480H|MYPN_ENST00000540630.1_Missense_Mutation_p.Q755H	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	755					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.Q755H(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAACTATTCAGAGGACAGTGA	0.542																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2263-2265)CAG>CAC		myopalladin							101.0	99.0	100.0					10																	69934114		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69934114G>C	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2265G>C	10.37:g.69934114G>C	ENSP00000351790:p.Gln755His					MYPN_uc001jnn.3_Missense_Mutation_p.Q480H|MYPN_uc001jno.3_Missense_Mutation_p.Q755H|MYPN_uc009xpt.2_Missense_Mutation_p.Q755H|MYPN_uc010qit.1_Missense_Mutation_p.Q461H|MYPN_uc010qiu.1_RNA	p.Q755H	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			12	2450	+			755					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2265G>C	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.139054	0.21205	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.58506	0.33;0.41;0.39	5.76	4.85	0.62838	.	0.406919	0.26522	N	0.023908	T	0.46718	0.1407	L	0.46157	1.445	0.32649	N	0.519642	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.001	T	0.52215	-0.8605	9	.	.	.	.	8.4414	0.32818	0.1338:0.1299:0.7363:0.0	.	755;480;755	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	H	480;480;755;755	ENSP00000346369:Q480H;ENSP00000351790:Q755H;ENSP00000441668:Q755H	.	Q	+	3	2	MYPN	69604120	0.976000	0.34144	1.000000	0.80357	0.994000	0.84299	0.694000	0.25512	1.428000	0.47296	0.655000	0.94253	CAG		PASS	0.542	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		40	178	40	178	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69961666	69961666	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:69961666G>C	ENST00000358913.5	+	18	4062	c.3574G>C	c.(3574-3576)Gag>Cag	p.E1192Q	MYPN_ENST00000354393.2_Missense_Mutation_p.E917Q|MYPN_ENST00000540630.1_Missense_Mutation_p.E1192Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1192	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.E1192Q(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CGTGAGACTGGAGTGCCGCGT	0.547																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(3574-3576)GAG>CAG		myopalladin							134.0	120.0	125.0					10																	69961666		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69961666G>C	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3574G>C	10.37:g.69961666G>C	ENSP00000351790:p.Glu1192Gln					MYPN_uc001jnn.3_Missense_Mutation_p.E917Q|MYPN_uc001jno.3_Missense_Mutation_p.E1192Q|MYPN_uc009xpt.2_Missense_Mutation_p.E1192Q|MYPN_uc010qit.1_Missense_Mutation_p.E898Q|MYPN_uc010qiu.1_RNA	p.E1192Q	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			19	3759	+			1192			Interaction with ACTN.|Ig-like 5.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.3574G>C	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211125	0.95069	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.68181	-0.31;-0.31;-0.31	5.22	5.22	0.72569	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76983	0.4064	L	0.42744	1.35	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.994;0.997;0.999	T	0.75068	-0.3448	9	.	.	.	.	18.7819	0.91937	0.0:0.0:1.0:0.0	.	1192;917;1192	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	Q	917;917;1192;1192	ENSP00000346369:E917Q;ENSP00000351790:E1192Q;ENSP00000441668:E1192Q	.	E	+	1	0	MYPN	69631672	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.713000	0.98740	2.428000	0.82296	0.650000	0.86243	GAG		PASS	0.547	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		36	153	36	153	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70525822	70525822	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:70525822G>C	ENST00000265872.6	+	17	2403	c.2284G>C	c.(2284-2286)Gaa>Caa	p.E762Q	CCAR1_ENST00000535016.1_Missense_Mutation_p.E747Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.E747Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	762	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.E762Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GGATAATAAAGAACATTCATT	0.323																																						uc001joo.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)	7						c.(2284-2286)GAA>CAA		cell-cycle and apoptosis regulatory protein 1							83.0	80.0	81.0					10																	70525822		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70525822G>C	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2284G>C	10.37:g.70525822G>C	ENSP00000265872:p.Glu762Gln					CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.E567Q|CCAR1_uc009xpx.1_Missense_Mutation_p.E736Q|CCAR1_uc001jon.1_Missense_Mutation_p.E708Q|CCAR1_uc010qiz.1_Missense_Mutation_p.E747Q|CCAR1_uc010qja.1_Missense_Mutation_p.E747Q|CCAR1_uc010qjb.1_RNA	p.E762Q	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			17	2403	+			762			Glu-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.2284G>C	CCDS7282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.75|19.75	3.885635|3.885635	0.72410|0.72410	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012|ENST00000543706	T;T;T;T;T;T|.	0.19394|.	2.15;2.15;2.15;2.15;2.15;2.15|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81678|0.81678	0.4873|0.4873	M|M	0.81682|0.81682	2.555|2.555	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	0.989;0.993;1.0|.	D;D;D|.	0.87578|.	0.979;0.979;0.998|.	T|T	0.82321|0.82321	-0.0515|-0.0515	10|5	0.54805|.	T|.	0.06|.	-21.4383|-21.4383	19.181|19.181	0.93623|0.93623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	747;762;736|.	Q8IX12-2;Q8IX12;F5H2E6|.	.;CCAR1_HUMAN;.|.	Q|T	762;747;747;747;736;567|131	ENSP00000265872:E762Q;ENSP00000441820:E747Q;ENSP00000445254:E747Q;ENSP00000439252:E747Q;ENSP00000438610:E736Q;ENSP00000439642:E567Q|.	ENSP00000265872:E762Q|.	E|R	+|+	1|2	0|0	CCAR1|CCAR1	70195828|70195828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.668000|9.668000	0.98619|0.98619	2.531000|2.531000	0.85337|0.85337	0.561000|0.561000	0.74099|0.74099	GAA|AGA		PASS	0.323	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		14	111	14	111	---	---	---	---
SYNPO2L	79933	broad.mit.edu	37	10	75407379	75407379	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:75407379C>G	ENST00000394810.2	-	4	2180	c.2031G>C	c.(2029-2031)ctG>ctC	p.L677L	SYNPO2L_ENST00000372873.4_Silent_p.L453L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	677	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.L453L(1)|p.L677L(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCCCGAGGCTCAGAGCATCTT	0.597																																						uc001jut.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2029-2031)CTG>CTC		synaptopodin 2-like isoform a							76.0	88.0	84.0					10																	75407379		2203	4300	6503	SO:0001819	synonymous_variant	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407379C>G	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2031G>C	10.37:g.75407379C>G						SYNPO2L_uc001jus.3_Silent_p.L453L	p.L677L	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			4	2183	-	Prostate(51;0.0112)		677			Pro-rich.		A5PKV9|Q68A20	Silent	SNP	ENST00000394810.2	37	c.2031G>C	CCDS44438.1																																																																																				PASS	0.597	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		27	129	27	129	---	---	---	---
SFTPA1	653509	broad.mit.edu	37	10	81373854	81373854	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:81373854C>T	ENST00000398636.3	+	6	870	c.732C>T	c.(730-732)acC>acT	p.T244T	SFTPA1_ENST00000428376.2_Silent_p.T244T|SFTPA1_ENST00000372313.5_Silent_p.T185T|SFTPA1_ENST00000372308.3_Silent_p.T244T|SFTPA1_ENST00000419470.2_Silent_p.T259T	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	244	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)	p.T259T(1)		endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCCGACTGACCATCTGTGAGT	0.582																																						uc001kap.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)ACC>ACT		surfactant protein A1 isoform 1							91.0	81.0	84.0					10																	81373854		2203	4294	6497	SO:0001819	synonymous_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81373854C>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.732C>T	10.37:g.81373854C>T						SFTPA1_uc001kaq.2_Silent_p.T244T|SFTPA1_uc009xry.2_Silent_p.T259T|SFTPA1_uc001kar.2_Silent_p.T244T|SFTPA1_uc010qlt.1_Silent_p.T185T|SFTPA1_uc009xrz.2_Silent_p.T174T|SFTPA1_uc009xsa.2_Silent_p.T244T|SFTPA1_uc009xsf.2_RNA	p.T244T	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	853	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		244			C-type lectin.		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Silent	SNP	ENST00000398636.3	37	c.732C>T	CCDS44445.1																																																																																				PASS	0.582	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		30	95	30	95	---	---	---	---
GHITM	27069	broad.mit.edu	37	10	85904678	85904678	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:85904678A>T	ENST00000372134.3	+	5	582	c.389A>T	c.(388-390)tAc>tTc	p.Y130F		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	130					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.Y130F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						ACCTATATGTACTTAGCAGGG	0.388																																						uc001kcs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)TAC>TTC		growth hormone inducible transmembrane protein							170.0	159.0	162.0					10																	85904678		1907	4115	6022	SO:0001583	missense	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85904678A>T	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.389A>T	10.37:g.85904678A>T	ENSP00000361207:p.Tyr130Phe					GHITM_uc010qma.1_Intron|GHITM_uc010qmb.1_Missense_Mutation_p.Y60F	p.Y130F	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN			5	593	+			130			Helical; (Potential).		A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	c.389A>T	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.877507	0.91664	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	T	0.45668	0.89	6.17	6.17	0.99709	.	0.051670	0.85682	D	0.000000	T	0.63248	0.2495	M	0.73372	2.23	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.60182	-0.7313	10	0.30854	T	0.27	-18.8857	15.8048	0.78491	1.0:0.0:0.0:0.0	.	130	Q9H3K2	GHITM_HUMAN	F	130;117;130;110	ENSP00000361207:Y130F	ENSP00000342214:Y110F	Y	+	2	0	GHITM	85894658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.829000	0.92055	2.371000	0.80710	0.533000	0.62120	TAC		PASS	0.388	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		66	118	66	118	---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93741417	93741417	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:93741417G>C	ENST00000265990.6	+	16	2081	c.1773G>C	c.(1771-1773)ttG>ttC	p.L591F	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	591					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L591F(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGAACTGTTGAGTAAGGCTT	0.403																																						uc001khr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1771-1773)TTG>TTC		BTAF1 RNA polymerase II, B-TFIID transcription							163.0	161.0	161.0					10																	93741417		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93741417G>C	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1773G>C	10.37:g.93741417G>C	ENSP00000265990:p.Leu591Phe					BTAF1_uc001khs.1_Missense_Mutation_p.L261F|BTAF1_uc001kht.1_Missense_Mutation_p.L29F	p.L591F	NM_003972	NP_003963	O14981	BTAF1_HUMAN			16	1871	+		Colorectal(252;0.0846)	591			HEAT 4.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.1773G>C	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127412	0.56721	.	.	ENSG00000095564	ENST00000265990	D	0.92495	-3.05	5.89	0.304	0.15796	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.071534	0.56097	D	0.000037	D	0.92450	0.7603	M	0.61703	1.905	0.80722	D	1	D;D	0.52996	0.957;0.957	P;P	0.56278	0.795;0.795	D	0.90417	0.4414	10	0.72032	D	0.01	-9.8703	9.2999	0.37838	0.5709:0.0:0.4291:0.0	.	591;591	Q2M1V9;O14981	.;BTAF1_HUMAN	F	591	ENSP00000265990:L591F	ENSP00000265990:L591F	L	+	3	2	BTAF1	93731397	0.997000	0.39634	0.989000	0.46669	0.886000	0.51366	0.726000	0.25984	0.118000	0.18165	-0.252000	0.11476	TTG		PASS	0.403	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		29	163	29	163	---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93749178	93749178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:93749178C>T	ENST00000265990.6	+	20	3003	c.2695C>T	c.(2695-2697)Cag>Tag	p.Q899*		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	899					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q899*(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTATGCAGCTCAGTGCATAGC	0.398																																						uc001khr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2695-2697)CAG>TAG		BTAF1 RNA polymerase II, B-TFIID transcription							75.0	78.0	77.0					10																	93749178		2203	4300	6503	SO:0001587	stop_gained	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93749178C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2695C>T	10.37:g.93749178C>T	ENSP00000265990:p.Gln899*					BTAF1_uc001khs.1_Nonsense_Mutation_p.Q569*|BTAF1_uc001kht.1_Nonsense_Mutation_p.Q337*	p.Q899*	NM_003972	NP_003963	O14981	BTAF1_HUMAN			20	2793	+		Colorectal(252;0.0846)	899			HEAT 6.		B4E0W6|O43578	Nonsense_Mutation	SNP	ENST00000265990.6	37	c.2695C>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	39	7.376641	0.98245	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.25	3.29	0.37713	.	0.313649	0.31884	N	0.006910	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-1.9751	2.8486	0.05551	0.2931:0.453:0.1465:0.1074	.	.	.	.	X	899	.	ENSP00000265990:Q899X	Q	+	1	0	BTAF1	93739158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.675000	0.37555	2.462000	0.83206	0.591000	0.81541	CAG		PASS	0.398	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		15	86	15	86	---	---	---	---
LGI1	9211	broad.mit.edu	37	10	95557191	95557191	+	Silent	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:95557191G>T	ENST00000371418.4	+	8	1565	c.1305G>T	c.(1303-1305)gtG>gtT	p.V435V	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Silent_p.V387V	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	435					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.V435V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TGTACGCAGTGAAGCACTTCT	0.433																																						uc001kjc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1303-1305)GTG>GTT		leucine-rich, glioma inactivated 1 precursor							125.0	116.0	119.0					10																	95557191		2203	4300	6503	SO:0001819	synonymous_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95557191G>T	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1305G>T	10.37:g.95557191G>T						LGI1_uc010qnv.1_Silent_p.V387V|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron	p.V435V	NM_005097	NP_005088	O95970	LGI1_HUMAN			8	1641	+		Colorectal(252;0.124)	435			EAR 5.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	c.1305G>T	CCDS7431.1																																																																																				PASS	0.433	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		19	98	19	98	---	---	---	---
SLC35G1	159371	broad.mit.edu	37	10	95658372	95658372	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:95658372A>C	ENST00000427197.1	+	2	284	c.223A>C	c.(223-225)Aca>Cca	p.T75P	SLC35G1_ENST00000371408.3_Missense_Mutation_p.T74P	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	75					calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T74P(1)									CTTGTTTTACACATTATTGTC	0.398																																						uc001kjg.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(223-225)ACA>CCA		transmembrane protein 20 isoform 1							265.0	235.0	245.0					10																	95658372		2203	4300	6503	SO:0001583	missense	159371					integral to membrane		g.chr10:95658372A>C	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.223A>C	10.37:g.95658372A>C	ENSP00000400932:p.Thr75Pro					TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.T74P|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.T58P|TMEM20_uc001kjj.2_Intron	p.T75P	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN		STAD - Stomach adenocarcinoma(243;0.00345)	2	284	+		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)	75			Helical; (Potential).		Q86YG5|Q8NBA5	Missense_Mutation	SNP	ENST00000427197.1	37	c.223A>C	CCDS44459.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.249952	0.80024	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.77620	-1.1;-1.11	5.73	5.73	0.89815	.	0.139670	0.64402	N	0.000004	D	0.82761	0.5107	M	0.64997	1.995	0.44677	D	0.99766	P;P;P	0.52316	0.822;0.952;0.897	P;P;P	0.54815	0.554;0.761;0.648	T	0.80741	-0.1247	10	0.28530	T	0.3	.	16.3123	0.82883	1.0:0.0:0.0:0.0	.	58;75;74	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	P	74;75	ENSP00000360462:T74P;ENSP00000400932:T75P	ENSP00000360462:T74P	T	+	1	0	SLC35G1	95648362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.178000	0.58284	2.308000	0.77769	0.533000	0.62120	ACA		PASS	0.398	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		24	127	24	127	---	---	---	---
ALDH18A1	5832	broad.mit.edu	37	10	97392719	97392719	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:97392719C>G	ENST00000371224.2	-	7	942	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.E267Q	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	269	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)	p.E269Q(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TTTGTACCTTCTACATCTGAA	0.383																																						uc001kkz.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(805-807)GAA>CAA		pyrroline-5-carboxylate synthetase isoform 1	L-Glutamic Acid(DB00142)						92.0	85.0	88.0					10																	97392719		2203	4300	6503	SO:0001583	missense	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97392719C>G	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.805G>C	10.37:g.97392719C>G	ENSP00000360268:p.Glu269Gln					ALDH18A1_uc001kky.2_Missense_Mutation_p.E267Q|ALDH18A1_uc010qog.1_Missense_Mutation_p.E158Q|ALDH18A1_uc010qoh.1_Missense_Mutation_p.E57Q	p.E269Q	NM_002860	NP_002851	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	7	1047	-		Colorectal(252;0.0402)	269			Glutamate 5-kinase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	c.805G>C	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961810	0.74016	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.72725	-0.68;-0.68	5.97	5.97	0.96955	Aspartate/glutamate/uridylate kinase (3);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	L	0.41632	1.29	0.80722	D	1	B;B	0.21309	0.054;0.009	B;B	0.27715	0.082;0.034	T	0.64015	-0.6506	10	0.87932	D	0	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	269;267	P54886;P54886-2	P5CS_HUMAN;.	Q	269;267	ENSP00000360268:E269Q;ENSP00000360265:E267Q	ENSP00000360265:E267Q	E	-	1	0	ALDH18A1	97382709	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	3.606000	0.54095	2.836000	0.97738	0.655000	0.94253	GAA		PASS	0.383	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		5	88	5	88	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98273363	98273363	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:98273363C>G	ENST00000357947.3	-	1	305	c.80G>C	c.(79-81)gGg>gCg	p.G27A	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	27					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G27A(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGGGCGCTCCCCGAGTCCCCC	0.726																																						uc001kml.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(79-81)GGG>GCG		tolloid-like 2 precursor							21.0	21.0	21.0					10																	98273363		2201	4296	6497	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98273363C>G	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.80G>C	10.37:g.98273363C>G	ENSP00000350630:p.Gly27Ala					TLL2_uc009xvf.1_Missense_Mutation_p.G27A	p.G27A	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	1	306	-		Colorectal(252;0.0846)	27					A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.80G>C	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498034	0.26861	.	.	ENSG00000095587	ENST00000357947	T	0.58940	0.3	4.2	-3.21	0.05140	.	.	.	.	.	T	0.29588	0.0738	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	9	0.10636	T	0.68	.	4.5265	0.11983	0.0:0.2407:0.3218:0.4375	.	27	Q9Y6L7	TLL2_HUMAN	A	27	ENSP00000350630:G27A	ENSP00000350630:G27A	G	-	2	0	TLL2	98263353	0.015000	0.18098	0.004000	0.12327	0.083000	0.17756	0.105000	0.15333	-0.516000	0.06470	0.561000	0.74099	GGG		PASS	0.726	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			3	17	3	17	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101802191	101802191	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:101802191G>T	ENST00000370418.3	-	9	1621	c.1370C>A	c.(1369-1371)cCt>cAt	p.P457H		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	457					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.P457H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTTTCAGGCAGGGCCTCTCTG	0.512																																						uc001kql.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|pancreas(1)	4						c.(1369-1371)CCT>CAT		carboxypeptidase N, polypeptide 1 precursor							90.0	83.0	85.0					10																	101802191		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101802191G>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1370C>A	10.37:g.101802191G>T	ENSP00000359446:p.Pro457His						p.P457H	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	9	1630	-		Colorectal(252;0.234)	457					B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.1370C>A	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509756	0.85282	.	.	ENSG00000120054	ENST00000370418	T	0.18338	2.22	4.55	4.55	0.56014	.	.	.	.	.	T	0.17066	0.0410	N	0.08118	0	0.29522	N	0.853435	D	0.67145	0.996	P	0.54372	0.75	T	0.07083	-1.0791	9	0.87932	D	0	-28.5208	13.1785	0.59641	0.0:0.0:1.0:0.0	.	457	P15169	CBPN_HUMAN	H	457	ENSP00000359446:P457H	ENSP00000359446:P457H	P	-	2	0	CPN1	101792181	0.996000	0.38824	0.931000	0.37212	0.613000	0.37349	1.769000	0.38522	2.232000	0.73038	0.650000	0.86243	CCT		PASS	0.512	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		50	76	50	76	---	---	---	---
PCGF6	84108	broad.mit.edu	37	10	105110820	105110820	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:105110820C>G	ENST00000369847.3	-	1	71	c.4G>C	c.(4-6)Gag>Cag	p.E2Q	PCGF6_ENST00000337211.4_Missense_Mutation_p.E2Q|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	2					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E2Q(2)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		GCGACCCCCTCCATGGTCGGG	0.751																																						uc001kwt.2																			2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(4-6)GAG>CAG		polycomb group ring finger 6 isoform a							12.0	16.0	14.0					10																	105110820		1528	2932	4460	SO:0001583	missense	84108				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105110820C>G	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.4G>C	10.37:g.105110820C>G	ENSP00000358862:p.Glu2Gln					PCGF6_uc001kwu.2_Missense_Mutation_p.E2Q|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA	p.E2Q	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	1	72	-		Colorectal(252;0.0747)|Breast(234;0.128)	2					A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	37	c.4G>C	CCDS31275.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810545	0.90707	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.37058	1.33;1.22	4.73	4.73	0.59995	.	0.248240	0.20912	N	0.083450	T	0.29945	0.0749	N	0.19112	0.55	0.28529	N	0.912696	B;B	0.34015	0.435;0.319	B;B	0.38842	0.283;0.088	T	0.34601	-0.9822	10	0.87932	D	0	.	14.5454	0.68027	0.0:1.0:0.0:0.0	.	2;2	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	Q	2	ENSP00000358862:E2Q;ENSP00000338845:E2Q	ENSP00000338845:E2Q	E	-	1	0	PCGF6	105100810	1.000000	0.71417	0.987000	0.45799	0.422000	0.31414	3.910000	0.56371	2.451000	0.82905	0.491000	0.48974	GAG		PASS	0.751	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154		3	22	3	22	---	---	---	---
CFAP43	80217	broad.mit.edu	37	10	105912413	105912413	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:105912413C>G	ENST00000357060.3	-	28	3727	c.3612G>C	c.(3610-3612)ttG>ttC	p.L1204F	WDR96_ENST00000428666.1_Missense_Mutation_p.L1205F	NM_025145.5	NP_079421.5												p.L1204L(1)|p.L1204F(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGTCTTTTCAAATGTTCAT	0.373																																						uc001kxw.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(3610-3612)TTG>TTC		hypothetical protein LOC80217							134.0	134.0	134.0					10																	105912413		2202	4300	6502	SO:0001583	missense	80217							g.chr10:105912413C>G																												ENST00000357060.3:c.3612G>C	10.37:g.105912413C>G	ENSP00000349568:p.Leu1204Phe					C10orf79_uc009xxq.2_Missense_Mutation_p.L512F	p.L1204F	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	28	3728	-		Colorectal(252;0.178)	1204			Potential.			Missense_Mutation	SNP	ENST00000357060.3	37	c.3612G>C	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.93|15.93	2.977034|2.977034	0.53720|0.53720	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000457071;ENST00000434629	T;T|.	0.29397|.	1.57;1.62|.	5.95|5.95	3.9|3.9	0.45041|0.45041	.|.	0.073703|.	0.53938|.	D|.	0.000056|.	T|.	0.67748|.	0.2926|.	M|M	0.77103|0.77103	2.36|2.36	0.35700|0.35700	D|D	0.815544|0.815544	D;D|.	0.89917|.	0.997;1.0|.	D;D|.	0.77004|.	0.979;0.989|.	T|.	0.75271|.	-0.3376|.	10|.	0.52906|.	T|.	0.07|.	.|.	10.6281|10.6281	0.45519|0.45519	0.0:0.8362:0.0:0.1638|0.0:0.8362:0.0:0.1638	.|.	1205;1204|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	F|S	1204;1205|53;565	ENSP00000349568:L1204F;ENSP00000400289:L1205F|.	ENSP00000349568:L1204F|.	L|X	-|-	3|2	2|2	WDR96|WDR96	105902403|105902403	0.991000|0.991000	0.36638|0.36638	0.992000|0.992000	0.48379|0.48379	0.561000|0.561000	0.35649|0.35649	0.215000|0.215000	0.17562|0.17562	1.363000|1.363000	0.46019|0.46019	0.563000|0.563000	0.77884|0.77884	TTG|TGA		PASS	0.373	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				30	178	30	178	---	---	---	---
ITPRIP	85450	broad.mit.edu	37	10	106075282	106075282	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:106075282C>G	ENST00000337478.1	-	2	699	c.528G>C	c.(526-528)agG>agC	p.R176S	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.R176S|ITPRIP_ENST00000358187.2_Missense_Mutation_p.R176S	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	176						membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R176S(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGCAGAGGCTCCTCAGGGCTT	0.627																																						uc001kye.2																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)AGG>AGC		inositol 1,4,5-triphosphate receptor interacting							66.0	71.0	69.0					10																	106075282		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075282C>G	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.528G>C	10.37:g.106075282C>G	ENSP00000337178:p.Arg176Ser					ITPRIP_uc001kyf.2_Missense_Mutation_p.R176S|ITPRIP_uc001kyg.2_Missense_Mutation_p.R176S	p.R176S	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN			2	601	-			176					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.528G>C	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336687	0.60963	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.33216	1.42;1.42;1.42	5.68	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.78049	2.395	0.41705	D	0.989427	D	0.89917	1.0	D	0.83275	0.996	T	0.59768	-0.7392	10	0.87932	D	0	-35.648	10.7468	0.46185	0.0:0.8551:0.0:0.1449	.	176	Q8IWB1	IPRI_HUMAN	S	176	ENSP00000337178:R176S;ENSP00000278071:R176S;ENSP00000350915:R176S	ENSP00000278071:R176S	R	-	3	2	ITPRIP	106065272	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.575000	0.36493	1.408000	0.46895	-0.251000	0.11542	AGG		PASS	0.627	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		9	88	9	88	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108430994	108430994	+	Splice_Site	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:108430994C>G	ENST00000263054.6	-	16	2197		c.e16+1		SORCS1_ENST00000344440.6_Splice_Site|SORCS1_ENST00000369698.1_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.?(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)		CACAAGCTCACCAATCAAAAT	0.408																																						uc001kym.2																			2	Unknown(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.e16+1		SORCS receptor 1 isoform a							182.0	160.0	168.0					10																	108430994		2203	4300	6503	SO:0001630	splice_region_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108430994C>G	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.2189+1G>C	10.37:g.108430994C>G						SORCS1_uc001kyl.2_Splice_Site_p.C730_splice|SORCS1_uc009xxs.2_Splice_Site_p.C730_splice|SORCS1_uc001kyn.1_Splice_Site_p.C730_splice|SORCS1_uc001kyo.2_Splice_Site_p.C730_splice	p.C730_splice	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	16	2197	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)						A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Splice_Site	SNP	ENST00000263054.6	37	c.2189_splice	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050850	0.75960	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORCS1	108420984	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.445000	0.80570	2.725000	0.93324	0.655000	0.94253	.		PASS	0.408	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	Intron	32	68	32	68	---	---	---	---
TECTB	6975	broad.mit.edu	37	10	114059307	114059307	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:114059307G>C	ENST00000369422.3	+	8	892	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	TECTB_ENST00000494328.1_3'UTR	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	298						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.E298Q(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CCTGGTCGTGGAGCTCTCCCT	0.587																																						uc001kzr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(892-894)GAG>CAG		tectorin beta precursor							99.0	102.0	101.0					10																	114059307		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114059307G>C	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.892G>C	10.37:g.114059307G>C	ENSP00000358430:p.Glu298Gln						p.E298Q	NM_058222	NP_478129	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	8	892	+		Colorectal(252;0.198)	298					Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.892G>C	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864456	0.91511	.	.	ENSG00000119913	ENST00000369422	T	0.76578	-1.03	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.81823	0.4904	L	0.32530	0.975	0.54753	D	0.999988	D	0.71674	0.998	D	0.78314	0.991	T	0.74934	-0.3495	10	0.13853	T	0.58	.	18.3537	0.90348	0.0:0.0:1.0:0.0	.	298	Q96PL2	TECTB_HUMAN	Q	298	ENSP00000358430:E298Q	ENSP00000358430:E298Q	E	+	1	0	TECTB	114049297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.051000	0.64257	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.587	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		17	79	17	79	---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115980379	115980379	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:115980379G>C	ENST00000369280.1	+	19	3007	c.2547G>C	c.(2545-2547)caG>caC	p.Q849H	TDRD1_ENST00000369281.2_Missense_Mutation_p.Q735H|TDRD1_ENST00000422662.1_Missense_Mutation_p.Q453H|TDRD1_ENST00000369282.1_Missense_Mutation_p.Q849H|TDRD1_ENST00000251864.2_Missense_Mutation_p.Q849H			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	849					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.Q849H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAAGATTCCAGATGTGTGTTG	0.388																																						uc001lbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2545-2547)CAG>CAC		tudor domain containing 1							111.0	106.0	108.0					10																	115980379		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115980379G>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2547G>C	10.37:g.115980379G>C	ENSP00000358286:p.Gln849His					TDRD1_uc001lbf.2_Missense_Mutation_p.Q726H|TDRD1_uc001lbh.1_Missense_Mutation_p.Q840H|TDRD1_uc001lbi.1_Missense_Mutation_p.Q840H|TDRD1_uc010qsc.1_Missense_Mutation_p.Q453H|TDRD1_uc001lbj.2_Missense_Mutation_p.Q558H	p.Q849H	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	19	2700	+		Colorectal(252;0.172)|Breast(234;0.188)	849					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.2547G>C		.	.	.	.	.	.	.	.	.	.	G	11.79	1.745216	0.30955	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.18657	3.0;3.01;2.2;2.45;3.0	5.83	3.95	0.45737	.	0.648527	0.16385	N	0.216715	T	0.26085	0.0636	M	0.63428	1.95	0.35229	D	0.776728	B;P;B;P;B	0.42337	0.003;0.668;0.001;0.776;0.001	B;B;B;P;B	0.46076	0.007;0.306;0.002;0.503;0.003	T	0.30179	-0.9987	10	0.40728	T	0.16	-6.2181	6.7635	0.23554	0.1568:0.0:0.694:0.1492	.	453;849;735;849;735	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	H	849;849;735;453;849	ENSP00000358288:Q849H;ENSP00000251864:Q849H;ENSP00000358287:Q735H;ENSP00000402794:Q453H;ENSP00000358286:Q849H	ENSP00000251864:Q849H	Q	+	3	2	TDRD1	115970369	0.909000	0.30893	0.959000	0.39883	0.878000	0.50629	0.851000	0.27751	1.449000	0.47699	0.563000	0.77884	CAG		PASS	0.388	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			24	99	24	99	---	---	---	---
FAM204A	63877	broad.mit.edu	37	10	120095918	120095918	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:120095918C>A	ENST00000369183.4	-	3	269	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.G4W	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	4								p.G4W(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						GGTAGCAGCCCACTCCACATC	0.388																																						uc001ldo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)GGG>TGG		hypothetical protein LOC63877							78.0	71.0	74.0					10																	120095918		2203	4299	6502	SO:0001583	missense	63877							g.chr10:120095918C>A	AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.10G>T	10.37:g.120095918C>A	ENSP00000358183:p.Gly4Trp					C10orf84_uc010qss.1_Missense_Mutation_p.G4W	p.G4W	NM_022063	NP_071346	Q9H8W3	F204A_HUMAN		all cancers(201;0.0244)	3	277	-		Colorectal(252;0.101)	4					D3DRC6|Q5T373|Q9H5V5	Missense_Mutation	SNP	ENST00000369183.4	37	c.10G>T	CCDS7605.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345303	0.82022	.	.	ENSG00000165669	ENST00000369183;ENST00000369172;ENST00000369170	.	.	.	5.93	5.93	0.95920	.	0.059158	0.64402	D	0.000002	T	0.80319	0.4601	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81614	-0.0853	9	0.87932	D	0	-13.8787	17.2707	0.87101	0.0:1.0:0.0:0.0	.	4	Q9H8W3	F204A_HUMAN	W	4	.	ENSP00000358168:G4W	G	-	1	0	FAM204A	120085908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.413000	0.59795	2.826000	0.97356	0.655000	0.94253	GGG		PASS	0.388	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050596.2	NM_022063		13	64	13	64	---	---	---	---
EDRF1	26098	broad.mit.edu	37	10	127434418	127434418	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:127434418G>A	ENST00000356792.4	+	19	2965	c.2733G>A	c.(2731-2733)cgG>cgA	p.R911R	RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|C10orf137_ENST00000337623.3_Silent_p.R877R|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		911					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R877R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGCTCATGCGGATTTGTGCGC	0.428																																						uc001liq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(2731-2733)CGG>CGA		erythroid differentiation-related factor 1							117.0	115.0	116.0					10																	127434418		2203	4300	6503	SO:0001819	synonymous_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127434418G>A																												ENST00000356792.4:c.2733G>A	10.37:g.127434418G>A						C10orf137_uc001lin.2_Silent_p.R877R|C10orf137_uc001lio.1_Silent_p.R877R|C10orf137_uc001lip.1_Silent_p.R615R|C10orf137_uc001lis.1_Silent_p.R237R	p.R911R	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			19	3026	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	911					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	c.2733G>A	CCDS55733.1																																																																																				PASS	0.428	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			30	139	30	139	---	---	---	---
FANK1	92565	broad.mit.edu	37	10	127693455	127693455	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr10:127693455T>C	ENST00000368693.1	+	7	646	c.542T>C	c.(541-543)cTa>cCa	p.L181P	FANK1_ENST00000368695.1_Missense_Mutation_p.L175P|FANK1_ENST00000477963.1_3'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	181						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L181P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TGTTGCAGTCTAATGCTGGCG	0.488																																						uc001ljh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(541-543)CTA>CCA		fibronectin type III and ankyrin repeat domains							128.0	118.0	122.0					10																	127693455		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127693455T>C	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.542T>C	10.37:g.127693455T>C	ENSP00000357682:p.Leu181Pro					FANK1_uc009yan.2_Missense_Mutation_p.L207P|FANK1_uc001lji.2_Missense_Mutation_p.L175P	p.L181P	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN			7	646	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	181			ANK 3.		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.542T>C	CCDS31309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.0|20.0	3.931341|3.931341	0.73442|0.73442	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692|ENST00000456942	D;D;T|.	0.82255|.	-1.59;-1.59;-0.61|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.64402|.	D|.	0.000018|.	D|.	0.88945|.	0.6575|.	H|H	0.98407|0.98407	4.225|4.225	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	D|.	0.93021|.	0.6440|.	10|.	0.87932|.	D|.	0|.	-16.0681|-16.0681	15.118|15.118	0.72419|0.72419	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	207;181;181|.	Q8TC84-3;Q8TC84-2;Q8TC84|.	.;.;FANK1_HUMAN|.	P|Q	175;181;159;207|76	ENSP00000357684:L175P;ENSP00000357682:L181P;ENSP00000357680:L159P|.	ENSP00000357680:L159P|.	L|X	+|+	2|1	0|0	FANK1|FANK1	127683445|127683445	0.998000|0.998000	0.40836|0.40836	0.819000|0.819000	0.32651|0.32651	0.792000|0.792000	0.44763|0.44763	5.310000|5.310000	0.65780|0.65780	2.207000|2.207000	0.71202|0.71202	0.533000|0.533000	0.62120|0.62120	CTA|TAA		PASS	0.488	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		50	79	50	79	---	---	---	---
RASSF7	8045	broad.mit.edu	37	11	562244	562244	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:562244C>G	ENST00000397583.3	+	3	723	c.290C>G	c.(289-291)tCa>tGa	p.S97*	RASSF7_ENST00000454668.2_Nonsense_Mutation_p.S97*|RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000397582.3_Nonsense_Mutation_p.S97*|RASSF7_ENST00000344375.4_Nonsense_Mutation_p.S97*|C11orf35_ENST00000329451.3_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000431809.1_Nonsense_Mutation_p.S97*|RP11-496I9.1_ENST00000527113.1_RNA	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	97					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S97*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCCCTCCTCAGACAGCTGT	0.662																																					Pancreas(184;1170 3913 7268)	uc001lqc.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(289-291)TCA>TGA		Ras association (RalGDS/AF-6) domain family							47.0	46.0	46.0					11																	562244		2203	4300	6503	SO:0001587	stop_gained	8045				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding	g.chr11:562244C>G	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"""chromosome 11 open reading frame 13"""	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.290C>G	11.37:g.562244C>G	ENSP00000380713:p.Ser97*					C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_Nonsense_Mutation_p.S97*|RASSF7_uc001lqb.2_Nonsense_Mutation_p.S97*|RASSF7_uc001lqd.2_Nonsense_Mutation_p.S97*	p.S97*	NM_003475	NP_003466	Q02833	RASF7_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	325	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	97					G5E9N9|Q3KP41|Q3KP42	Nonsense_Mutation	SNP	ENST00000397583.3	37	c.290C>G	CCDS7702.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890654	0.72524	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	.	.	.	3.81	3.81	0.43845	.	0.181346	0.38164	N	0.001799	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-1.0429	15.8892	0.79279	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000344226:S97X	S	+	2	0	RASSF7	552244	0.997000	0.39634	0.994000	0.49952	0.280000	0.26924	3.059000	0.49947	1.975000	0.57531	0.561000	0.74099	TCA		PASS	0.662	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		11	52	11	52	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	601622	601622	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:601622C>G	ENST00000264555.5	+	10	1201	c.1073C>G	c.(1072-1074)tCc>tGc	p.S358C	PHRF1_ENST00000413872.2_Missense_Mutation_p.S357C|PHRF1_ENST00000533464.1_Missense_Mutation_p.S354C|PHRF1_ENST00000416188.2_Missense_Mutation_p.S358C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	358	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.S358C(1)|p.S363C(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCGGACCATCCGCAAAAAGT	0.522																																						uc001lqe.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1072-1074)TCC>TGC		PHD and ring finger domains 1							84.0	92.0	90.0					11																	601622		1943	4136	6079	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:601622C>G	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1073C>G	11.37:g.601622C>G	ENSP00000264555:p.Ser358Cys					PHRF1_uc010qwc.1_Missense_Mutation_p.S358C|PHRF1_uc010qwd.1_Missense_Mutation_p.S357C|PHRF1_uc010qwe.1_Missense_Mutation_p.S354C|PHRF1_uc009ybz.1_Missense_Mutation_p.S149C	p.S358C	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			10	1204	+			358			Arg-rich.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1073C>G		.	.	.	.	.	.	.	.	.	.	C	16.22	3.060841	0.55432	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.53	4.53	0.55603	.	0.430588	0.17208	N	0.182870	T	0.65688	0.2715	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.70016	0.927;0.967;0.967;0.927	T	0.58188	-0.7680	10	0.72032	D	0.01	-15.5535	14.109	0.65111	0.0:1.0:0.0:0.0	.	354;357;358;358	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	C	358;357;358;354	ENSP00000264555:S358C;ENSP00000388589:S357C;ENSP00000410626:S358C;ENSP00000431870:S354C	ENSP00000264555:S358C	S	+	2	0	PHRF1	591622	0.010000	0.17322	0.012000	0.15200	0.003000	0.03518	2.309000	0.43699	2.351000	0.79841	0.563000	0.77884	TCC		PASS	0.522	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		12	34	12	34	---	---	---	---
DRD4	1815	broad.mit.edu	37	11	639799	639799	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:639799G>A	ENST00000176183.5	+	3	562	c.550G>A	c.(550-552)Gtg>Atg	p.V184M		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	184					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)	p.V184M(1)		NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	CGACCCCGCCGTGTGCCGCCT	0.711																																						uc001lqp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)GTG>ATG		dopamine receptor D4	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)						42.0	31.0	35.0					11																	639799		2196	4297	6493	SO:0001583	missense	1815				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding	g.chr11:639799G>A	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"""GPCR / Class A : Dopamine receptors"""	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.550G>A	11.37:g.639799G>A	ENSP00000176183:p.Val184Met						p.V184M	NM_000797	NP_000788	P21917	DRD4_HUMAN		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	550	+		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	184			Extracellular (Potential).		B0M0J7|Q7Z7Q5|Q8NGM5	Missense_Mutation	SNP	ENST00000176183.5	37	c.550G>A	CCDS7710.1	.	.	.	.	.	.	.	.	.	.	G	9.493	1.101124	0.20552	.	.	ENSG00000069696	ENST00000176183	T	0.38240	1.15	3.17	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.605887	0.15256	N	0.272037	T	0.22551	0.0544	.	.	.	0.29130	N	0.879683	B	0.29936	0.262	B	0.25987	0.065	T	0.13656	-1.0501	9	0.48119	T	0.1	.	4.9715	0.14117	0.109:0.0:0.3443:0.5467	.	184	P21917	DRD4_HUMAN	M	184	ENSP00000176183:V184M	ENSP00000176183:V184M	V	+	1	0	DRD4	629799	0.994000	0.37717	0.438000	0.26821	0.058000	0.15608	2.191000	0.42640	0.156000	0.19299	-0.521000	0.04368	GTG		PASS	0.711	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		6	20	6	20	---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967872	4967872	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:4967872C>G	ENST00000380373.2	-	1	484	c.459G>C	c.(457-459)aaG>aaC	p.K153N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K153N(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAGCATGCTCTTAAAGGAGA	0.423																																						uc010qys.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(457-459)AAG>AAC		olfactory receptor, family 51, subfamily A,							177.0	176.0	177.0					11																	4967872		2192	4272	6464	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967872C>G	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.459G>C	11.37:g.4967872C>G	ENSP00000369731:p.Lys153Asn						p.K153N	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	459	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	153			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000380373.2	37	c.459G>C	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196555	0.58126	.	.	ENSG00000205497	ENST00000380373	T	0.71817	-0.6	3.58	-3.07	0.05363	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75620	0.3874	M	0.80508	2.5	0.09310	N	1	D	0.53151	0.958	P	0.55161	0.77	T	0.67221	-0.5725	9	0.87932	D	0	.	5.5515	0.17093	0.0:0.3673:0.1454:0.4873	.	153	Q8NGJ6	O51A4_HUMAN	N	153	ENSP00000369731:K153N	ENSP00000369731:K153N	K	-	3	2	OR51A4	4924448	0.000000	0.05858	0.000000	0.03702	0.554000	0.35429	-0.725000	0.04942	-0.561000	0.06094	-0.232000	0.12228	AAG		PASS	0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		127	182	127	182	---	---	---	---
OR51B2	79345	broad.mit.edu	37	11	5344952	5344952	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:5344952G>C	ENST00000328813.2	-	1	630	c.576C>G	c.(574-576)ttC>ttG	p.F192L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F192L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGTCTATTGAAAGTTATGT	0.363																																						uc001mao.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(574-576)TTC>TTG		olfactory receptor, family 51, subfamily B,							78.0	79.0	79.0					11																	5344952		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344952G>C	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.576C>G	11.37:g.5344952G>C	ENSP00000327540:p.Phe192Leu					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.F192L	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	631	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	192			Extracellular (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.576C>G	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550641	0.45383	.	.	ENSG00000184881	ENST00000328813	T	0.00021	9.02	4.28	0.569	0.17340	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40385	U	0.001105	T	0.00210	0.0006	L	0.45137	1.4	0.25036	N	0.991239	D	0.89917	1.0	D	0.91635	0.999	T	0.51348	-0.8717	10	0.42905	T	0.14	.	7.4871	0.27439	0.3959:0.0:0.6041:0.0	.	192	Q9Y5P1	O51B2_HUMAN	L	192	ENSP00000327540:F192L	ENSP00000327540:F192L	F	-	3	2	OR51B2	5301528	0.065000	0.20965	0.794000	0.32065	0.792000	0.44763	-0.064000	0.11636	0.215000	0.20761	0.644000	0.83932	TTC		PASS	0.363	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		7	70	7	70	---	---	---	---
OR52N4	390072	broad.mit.edu	37	11	5776200	5776200	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:5776200C>G	ENST00000317254.3	+	1	278	c.230C>G	c.(229-231)tCt>tGt	p.S77C	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S77C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GTTATGTGCTCTAGTACAATC	0.448																																						uc001mbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(229-231)TCT>TGT		olfactory receptor, family 52, subfamily N,							146.0	152.0	150.0					11																	5776200		2195	4296	6491	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776200C>G	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.230C>G	11.37:g.5776200C>G	ENSP00000323224:p.Ser77Cys					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.S77C	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	278	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	77			Helical; Name=2; (Potential).		B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.230C>G	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758396	0.49468	.	.	ENSG00000181074	ENST00000317254	T	0.02446	4.29	5.93	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.502966	0.16803	N	0.198902	T	0.08846	0.0219	M	0.70842	2.15	0.09310	N	1	B	0.32160	0.358	B	0.44163	0.443	T	0.06844	-1.0804	10	0.87932	D	0	.	11.1652	0.48539	0.1433:0.7187:0.1381:0.0	.	77	Q8NGI2	O52N4_HUMAN	C	77	ENSP00000323224:S77C	ENSP00000323224:S77C	S	+	2	0	OR52N4	5732776	0.000000	0.05858	0.365000	0.25901	0.952000	0.60782	0.855000	0.27805	1.505000	0.48720	0.551000	0.68910	TCT		PASS	0.448	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		7	133	7	133	---	---	---	---
SMPD1	6609	broad.mit.edu	37	11	6413202	6413202	+	Missense_Mutation	SNP	G	G	A	rs570353618		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:6413202G>A	ENST00000342245.4	+	2	1075	c.907G>A	c.(907-909)Gca>Aca	p.A303T	SMPD1_ENST00000527275.1_Missense_Mutation_p.A302T|SMPD1_ENST00000356761.2_Missense_Mutation_p.A303T|SMPD1_ENST00000299397.3_Missense_Mutation_p.A303T|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	301					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.A303T(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	CACCGTCACAGCACTTGTGAG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14436	0.0		0.0	False		,,,				2504	0.0					uc001mcw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(907-909)GCA>ACA		sphingomyelin phosphodiesterase 1, acid	Desipramine(DB01151)						88.0	87.0	87.0					11																	6413202		2201	4296	6497	SO:0001583	missense	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6413202G>A	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.907G>A	11.37:g.6413202G>A	ENSP00000340409:p.Ala303Thr					SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.A303T|SMPD1_uc009yew.2_Missense_Mutation_p.A302T	p.A303T	NM_000543	NP_000534	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1081	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	301					A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	c.907G>A	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	G	4.801	0.148961	0.09185	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000530395;ENST00000527275	D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49	4.91	3.0	0.34707	Metallophosphoesterase domain (1);	0.342355	0.27636	N	0.018500	D	0.87030	0.6076	N	0.20845	0.615	0.19775	N	0.999957	B;B;B	0.19331	0.035;0.009;0.011	B;B;B	0.17433	0.018;0.006;0.011	T	0.72377	-0.4312	10	0.14656	T	0.56	-19.3151	10.4372	0.44443	0.1663:0.0:0.8337:0.0	.	302;303;301	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	T	303;303;303;30;302	ENSP00000299397:A303T;ENSP00000349203:A303T;ENSP00000340409:A303T;ENSP00000431479:A30T;ENSP00000435350:A302T	ENSP00000299397:A303T	A	+	1	0	SMPD1	6369778	0.095000	0.21747	1.000000	0.80357	0.458000	0.32498	2.283000	0.43470	1.072000	0.40860	-0.258000	0.10820	GCA		PASS	0.577	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		52	82	52	82	---	---	---	---
OR2AG1	144125	broad.mit.edu	37	11	6807104	6807104	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:6807104C>G	ENST00000307401.4	+	1	857	c.836C>G	c.(835-837)aCa>aGa	p.T279R		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T279R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTTTTCTACACAATTGTCACT	0.498																																						uc001mer.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(835-837)ACA>AGA		olfactory receptor, family 2, subfamily AG,							143.0	127.0	133.0					11																	6807104		2201	4296	6497	SO:0001583	missense	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6807104C>G	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.836C>G	11.37:g.6807104C>G	ENSP00000307447:p.Thr279Arg						p.T279R	NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	836	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	279			Helical; Name=7; (Potential).		B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	c.836C>G	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912860	0.52439	.	.	ENSG00000170803	ENST00000307401	T	0.00267	8.38	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.00845	0.0028	H	0.95365	3.66	0.32058	N	0.596054	D	0.64830	0.994	D	0.69654	0.965	T	0.03043	-1.1079	10	0.87932	D	0	.	14.8648	0.70406	0.0:1.0:0.0:0.0	.	279	Q9H205	O2AG1_HUMAN	R	279	ENSP00000307447:T279R	ENSP00000307447:T279R	T	+	2	0	OR2AG1	6763680	0.000000	0.05858	0.985000	0.45067	0.993000	0.82548	0.606000	0.24194	2.454000	0.82982	0.655000	0.94253	ACA		PASS	0.498	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		3	134	3	134	---	---	---	---
AKIP1	56672	broad.mit.edu	37	11	8934078	8934078	+	Missense_Mutation	SNP	G	G	C	rs146611149		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:8934078G>C	ENST00000309377.4	+	3	391	c.301G>C	c.(301-303)Ggg>Cgg	p.G101R	ST5_ENST00000534127.1_5'Flank|AKIP1_ENST00000525005.1_Missense_Mutation_p.G101R|AKIP1_ENST00000396648.2_Intron|AKIP1_ENST00000534506.1_Intron|AKIP1_ENST00000299576.5_Intron|AKIP1_ENST00000309357.4_Missense_Mutation_p.G101R|AKIP1_ENST00000534147.1_Missense_Mutation_p.G101R|AKIP1_ENST00000529876.1_Intron	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	101					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)		p.G101R(1)		kidney(1)|large_intestine(2)|lung(2)	5						AAGTCAGTGTGGGGTAAGTTG	0.448																																						uc001mgx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)GGG>CGG		chromosome 11 open reading frame 17							104.0	90.0	95.0					11																	8934078		2201	4296	6497	SO:0001583	missense	56672					nucleus	protein binding	g.chr11:8934078G>C	AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"""chromosome 11 open reading frame 17"""	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.301G>C	11.37:g.8934078G>C	ENSP00000310459:p.Gly101Arg					ST5_uc001mgv.2_5'Flank|C11orf17_uc001mgz.2_Missense_Mutation_p.G101R|C11orf17_uc001mgy.2_Intron|C11orf17_uc010rbr.1_Missense_Mutation_p.G101R|C11orf17_uc010rbs.1_Intron|C11orf17_uc001mha.2_Missense_Mutation_p.G101R	p.G101R	NM_020642	NP_065693	Q9NQ31	AKIP1_HUMAN		Epithelial(150;5.08e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0243)	3	377	+			101					Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Missense_Mutation	SNP	ENST00000309377.4	37	c.301G>C	CCDS7793.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339783	0.24339	.	.	ENSG00000166452	ENST00000309377;ENST00000309357;ENST00000525005;ENST00000524577;ENST00000530281;ENST00000534147	T;T;T;T;T;T	0.52754	1.65;1.62;1.51;1.52;0.65;1.65	5.21	4.28	0.50868	.	0.206931	0.45606	D	0.000353	T	0.55242	0.1908	L	0.54323	1.7	0.36578	D	0.873365	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.55055	-0.8200	10	0.07990	T	0.79	-25.3218	9.0226	0.36209	0.0992:0.0:0.9008:0.0	.	101;101;101	B4DGE2;Q9NQ31-2;Q9NQ31	.;.;AKIP1_HUMAN	R	101;101;101;101;13;101	ENSP00000310459:G101R;ENSP00000310644:G101R;ENSP00000433510:G101R;ENSP00000434785:G101R;ENSP00000436989:G13R;ENSP00000431331:G101R	ENSP00000310644:G101R	G	+	1	0	AKIP1	8890654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.153000	0.50685	2.594000	0.87642	0.563000	0.77884	GGG		PASS	0.448	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385615.1	NM_020642		12	62	12	62	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14277308	14277308	+	RNA	SNP	T	T	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:14277308T>G	ENST00000310358.7	+	0	1743							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.V402G(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GTAGCCAGAGTTGTCATCGAG	0.557																																						uc001mle.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)GTT>GGT		spondin 1, extracellular matrix protein							70.0	74.0	73.0					11																	14277308		1907	4117	6024			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14277308T>G	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14277308T>G							p.V403G	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	10	1746	+			403					A8K6W5|O94862|Q8NCD7|Q8WUR5	Missense_Mutation	SNP	ENST00000310358.7	37	c.1208T>G		.	.	.	.	.	.	.	.	.	.	T	15.22	2.769401	0.49680	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.68	5.68	0.88126	.	0.064456	0.64402	D	0.000009	T	0.78585	0.4306	.	.	.	0.53005	D	0.999966	D	0.69078	0.997	D	0.72625	0.978	D	0.83652	0.0156	7	0.62326	D	0.03	.	13.8852	0.63704	0.0:0.0:0.0:1.0	.	403	Q9HCB6	SPON1_HUMAN	G	402	.	ENSP00000309297:V402G	V	+	2	0	SPON1	14233884	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.172000	0.68678	0.533000	0.62120	GTT		PASS	0.557	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		15	109	15	109	---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14889102	14889102	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:14889102T>C	ENST00000282096.4	+	15	3290	c.2937T>C	c.(2935-2937)cgT>cgC	p.R979R	PDE3B_ENST00000455098.2_Silent_p.R928R	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	979	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.R979R(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TCATGGATCGTTCTTCTCCTC	0.423																																						uc001mln.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2935-2937)CGT>CGC		phosphodiesterase 3B							99.0	91.0	93.0					11																	14889102		2200	4294	6494	SO:0001819	synonymous_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14889102T>C	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2937T>C	11.37:g.14889102T>C						PDE3B_uc010rcr.1_Silent_p.R928R	p.R979R	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			15	3290	+			979			Catalytic (By similarity).		B7ZM37|O00639|Q14408|Q6SEI4	Silent	SNP	ENST00000282096.4	37	c.2937T>C	CCDS7817.1																																																																																				PASS	0.423	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		26	123	26	123	---	---	---	---
INSC	387755	broad.mit.edu	37	11	15247260	15247260	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:15247260C>T	ENST00000379554.3	+	9	1243	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	INSC_ENST00000379556.3_Silent_p.I352I|INSC_ENST00000530161.1_Silent_p.I352I|INSC_ENST00000424273.1_Silent_p.I310I|INSC_ENST00000528567.1_Silent_p.I352I|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Silent_p.I310I	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	399					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.I399I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TTGCCAACATCACGTTCTTTG	0.537																																						uc001mly.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(1195-1197)ATC>ATT		inscuteable isoform a							69.0	67.0	68.0					11																	15247260		1980	4163	6143	SO:0001819	synonymous_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15247260C>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1197C>T	11.37:g.15247260C>T						INSC_uc001mlz.2_Silent_p.I352I|INSC_uc001mma.2_Silent_p.I352I|INSC_uc010rcs.1_Silent_p.I387I|INSC_uc001mmb.2_Silent_p.I352I|INSC_uc001mmc.2_Silent_p.I310I	p.I399I	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			9	1243	+			399					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	c.1197C>T	CCDS41621.1																																																																																				PASS	0.537	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		12	56	12	56	---	---	---	---
SOX6	55553	broad.mit.edu	37	11	16068081	16068081	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:16068081C>G	ENST00000352083.6	-	12	1679	c.1602G>C	c.(1600-1602)ctG>ctC	p.L534L	SOX6_ENST00000528252.1_Silent_p.L507L|SOX6_ENST00000396356.3_Silent_p.L534L|SOX6_ENST00000527619.1_Silent_p.L510L|SOX6_ENST00000528429.1_Silent_p.L534L|SOX6_ENST00000316399.6_Silent_p.L534L			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	534					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L534L(1)|p.L510L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TGCAGCTGTTCAGCCCCATAT	0.512																																						uc001mme.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1639-1641)CTG>CTC		SRY (sex determining region Y)-box 6 isoform 4							140.0	127.0	131.0					11																	16068081		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16068081C>G	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1602G>C	11.37:g.16068081C>G						SOX6_uc001mmd.2_Silent_p.L510L|SOX6_uc001mmf.2_Silent_p.L507L|SOX6_uc001mmg.2_Silent_p.L534L	p.L547L	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			12	1674	-			534					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1641G>C																																																																																					PASS	0.512	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		33	172	33	172	---	---	---	---
PTPN5	84867	broad.mit.edu	37	11	18755112	18755112	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:18755112G>T	ENST00000358540.2	-	10	1501	c.1071C>A	c.(1069-1071)aaC>aaA	p.N357K	PTPN5_ENST00000396171.4_Missense_Mutation_p.N357K|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_Missense_Mutation_p.N161K|PTPN5_ENST00000396166.3_5'Flank|PTPN5_ENST00000396168.1_Missense_Mutation_p.N333K|PTPN5_ENST00000396170.1_Missense_Mutation_p.N325K|PTPN5_ENST00000396167.2_Missense_Mutation_p.N325K	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	357	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)	p.N357K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CCCGGATGTAGTTGGCATTGA	0.582																																						uc001mpd.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1069-1071)AAC>AAA		protein-tyrosine-phosphatase non-receptor 5							173.0	161.0	165.0					11																	18755112		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18755112G>T	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1071C>A	11.37:g.18755112G>T	ENSP00000351342:p.Asn357Lys					PTPN5_uc001mpb.2_Missense_Mutation_p.N325K|PTPN5_uc001mpc.2_Missense_Mutation_p.N357K|PTPN5_uc001mpe.2_Missense_Mutation_p.N325K|PTPN5_uc010rdj.1_Missense_Mutation_p.N301K|PTPN5_uc001mpf.2_Missense_Mutation_p.N333K|PTPN5_uc010rdk.1_Missense_Mutation_p.N302K	p.N357K	NM_006906	NP_008837	P54829	PTN5_HUMAN			10	1502	-			357			Tyrosine-protein phosphatase.		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.1071C>A	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025321	0.75390	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	5.67	5.67	0.87782	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84135	0.0414	10	0.87932	D	0	.	13.0205	0.58784	0.0731:0.0:0.9269:0.0	.	357;325	P54829;B3KXG7	PTN5_HUMAN;.	K	161;357;325;357;325;333	ENSP00000435056:N161K;ENSP00000351342:N357K;ENSP00000379473:N325K;ENSP00000379474:N357K;ENSP00000379470:N325K;ENSP00000379471:N333K	ENSP00000351342:N357K	N	-	3	2	PTPN5	18711688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.687000	0.54692	2.677000	0.91161	0.655000	0.94253	AAC		PASS	0.582	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		41	110	41	110	---	---	---	---
PRMT3	10196	broad.mit.edu	37	11	20483558	20483558	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:20483558G>A	ENST00000331079.6	+	12	1322	c.1105G>A	c.(1105-1107)Gca>Aca	p.A369T	PRMT3_ENST00000437750.2_Missense_Mutation_p.A307T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	369	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.A369T(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CAGCCTTGTAGCAGTGAGTGA	0.368																																						uc001mqb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1105-1107)GCA>ACA		protein arginine methyltransferase 3 isoform 1							166.0	159.0	162.0					11																	20483558		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20483558G>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1105G>A	11.37:g.20483558G>A	ENSP00000331879:p.Ala369Thr					PRMT3_uc001mqc.2_Missense_Mutation_p.A292T|PRMT3_uc010rdn.1_Missense_Mutation_p.A307T	p.A369T	NM_005788	NP_005779	O60678	ANM3_HUMAN			12	1322	+			369					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.1105G>A	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336279	0.95758	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.25579	1.79;1.79	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.69767	-0.5056	10	0.66056	D	0.02	-21.1037	19.5995	0.95554	0.0:0.0:1.0:0.0	.	307;369	O60678-2;O60678	.;ANM3_HUMAN	T	369;369;307	ENSP00000331879:A369T;ENSP00000397766:A307T	ENSP00000331879:A369T	A	+	1	0	PRMT3	20440134	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.476000	0.97823	2.714000	0.92807	0.650000	0.86243	GCA		PASS	0.368	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		85	230	85	230	---	---	---	---
PRMT3	10196	broad.mit.edu	37	11	20515483	20515483	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:20515483G>T	ENST00000331079.6	+	14	1583	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y	PRMT3_ENST00000437750.2_Missense_Mutation_p.D394Y	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	456	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.D456Y(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TGGCTACTTTGATATATATTT	0.269																																						uc001mqb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1366-1368)GAT>TAT		protein arginine methyltransferase 3 isoform 1							33.0	38.0	36.0					11																	20515483		2173	4273	6446	SO:0001583	missense	10196						zinc ion binding	g.chr11:20515483G>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1366G>T	11.37:g.20515483G>T	ENSP00000331879:p.Asp456Tyr					PRMT3_uc001mqc.2_Missense_Mutation_p.D379Y|PRMT3_uc010rdn.1_Missense_Mutation_p.D394Y	p.D456Y	NM_005788	NP_005779	O60678	ANM3_HUMAN			14	1583	+			456					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.1366G>T	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.708047	0.68615	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.29142	1.58;1.58	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79541	-0.1761	10	0.87932	D	0	-24.6674	19.0304	0.92953	0.0:0.0:1.0:0.0	.	394;456	O60678-2;O60678	.;ANM3_HUMAN	Y	456;456;394	ENSP00000331879:D456Y;ENSP00000397766:D394Y	ENSP00000331879:D456Y	D	+	1	0	PRMT3	20472059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.490000	0.81461	2.603000	0.88011	0.591000	0.81541	GAT		PASS	0.269	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		16	140	16	140	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033664	30033664	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:30033664C>T	ENST00000328224.6	-	2	1795	c.562G>A	c.(562-564)Gag>Aag	p.E188K	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	188					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.E188K(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ATTTGGGTCTCAAAGCGTAGG	0.498																																						uc001msk.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(562-564)GAG>AAG		potassium voltage-gated channel, shaker-related							65.0	65.0	65.0					11																	30033664		2029	4166	6195	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033664C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.562G>A	11.37:g.30033664C>T	ENSP00000328511:p.Glu188Lys						p.E188K	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1714	-			188						Missense_Mutation	SNP	ENST00000328224.6	37	c.562G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882079	0.91740	.	.	ENSG00000182255	ENST00000328224	T	0.77358	-1.09	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.90508	0.7026	M	0.93197	3.39	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	D	0.93344	0.6712	10	0.87932	D	0	.	17.8942	0.88881	0.0:1.0:0.0:0.0	.	188	P22459	KCNA4_HUMAN	K	188	ENSP00000328511:E188K	ENSP00000328511:E188K	E	-	1	0	KCNA4	29990240	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.787000	0.85759	2.227000	0.72691	0.561000	0.74099	GAG		PASS	0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		20	100	20	100	---	---	---	---
FSHB	2488	broad.mit.edu	37	11	30255159	30255159	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:30255159A>T	ENST00000417547.1	+	3	241	c.202A>T	c.(202-204)Aca>Tca	p.T68S	FSHB_ENST00000254122.3_Missense_Mutation_p.T68S|FSHB_ENST00000533718.1_Missense_Mutation_p.T68S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	68					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.T68S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						AATCCAGAAAACATGTACCTT	0.463																																						uc001msl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(202-204)ACA>TCA		follicle stimulating hormone, beta polypeptide	Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)						97.0	89.0	92.0					11																	30255159		2202	4299	6501	SO:0001583	missense	2488				cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	g.chr11:30255159A>T		CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"""Endogenous ligands"""	3964	protein-coding gene	gene with protein product	"""follitropin, beta chain"", ""follicle-stimulating hormone beta subunit"""	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.202A>T	11.37:g.30255159A>T	ENSP00000416606:p.Thr68Ser					FSHB_uc001msm.2_Missense_Mutation_p.T68S|FSHB_uc001msn.2_Missense_Mutation_p.T68S	p.T68S	NM_000510	NP_000501	P01225	FSHB_HUMAN			3	271	+			68					A2TF08|A5JVV3|Q14D61	Missense_Mutation	SNP	ENST00000417547.1	37	c.202A>T	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562812	0.45694	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.82711	-1.64;-1.64;-1.64	6.17	-5.4	0.02656	Cystine knot (1);	0.901225	0.09732	N	0.762988	T	0.79185	0.4403	L	0.49513	1.565	0.09310	N	1	B	0.06786	0.001	B	0.20384	0.029	T	0.61869	-0.6974	10	0.52906	T	0.07	-0.2687	19.0625	0.93099	0.3469:0.0:0.6531:0.0	.	68	P01225	FSHB_HUMAN	S	68	ENSP00000254122:T68S;ENSP00000416606:T68S;ENSP00000433424:T68S	ENSP00000254122:T68S	T	+	1	0	FSHB	30211735	0.000000	0.05858	0.005000	0.12908	0.922000	0.55478	-0.412000	0.07132	-0.891000	0.03940	-0.408000	0.06270	ACA		PASS	0.463	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		7	106	7	106	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30937170	30937170	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:30937170G>C	ENST00000597505.1	-	25	3540	c.3541C>G	c.(3541-3543)Cag>Gag	p.Q1181E	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.Q260E			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.Q260E(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAGACTAGCTGAGGAGCAGCA	0.468																																						uc001mss.1																			1	Substitution - Missense(1)		lung(1)										Homo sapiens mRNA for KIAA1493 protein, partial cds.							149.0	118.0	129.0					11																	30937170		2202	4299	6501	SO:0001583	missense	0							g.chr11:30937170G>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3541C>G	11.37:g.30937170G>C	ENSP00000472625:p.Gln1181Glu					uc009yjk.1_Missense_Mutation_p.Q629E								5		-								A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	ENST00000597505.1	37	c.644C>G		.	.	.	.	.	.	.	.	.	.	G	7.076	0.569328	0.13560	.	.	ENSG00000170959	ENST00000339794	T	0.40756	1.02	5.44	3.37	0.38596	Ricin B-related lectin (1);Ricin B lectin (2);	0.431464	0.19650	N	0.109244	T	0.26376	0.0644	L	0.29908	0.895	0.21355	N	0.999714	B	0.29835	0.258	B	0.29077	0.098	T	0.12218	-1.0556	10	0.07325	T	0.83	-1.0576	11.6891	0.51505	0.0:0.0:0.7246:0.2754	.	260	Q6ZRR9	DCDC5_HUMAN	E	260	ENSP00000341700:Q260E	ENSP00000341700:Q260E	Q	-	1	0	DCDC5	30893746	0.363000	0.24989	1.000000	0.80357	0.038000	0.13279	0.680000	0.25306	2.556000	0.86216	0.655000	0.94253	CAG		PASS	0.468	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		4	122	4	122	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136590	40136590	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:40136590A>C	ENST00000278198.2	-	2	3216	c.1253T>G	c.(1252-1254)gTg>gGg	p.V418G	LRRC4C_ENST00000530763.1_Missense_Mutation_p.V418G|LRRC4C_ENST00000528697.1_Missense_Mutation_p.V418G|LRRC4C_ENST00000527150.1_Missense_Mutation_p.V418G			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	418	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.V418G(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTATCTTGCACAGTTACATT	0.443																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1252-1254)GTG>GGG		netrin-G1 ligand precursor							197.0	171.0	180.0					11																	40136590		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136590A>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1253T>G	11.37:g.40136590A>C	ENSP00000278198:p.Val418Gly					LRRC4C_uc001mxc.1_Missense_Mutation_p.V414G|LRRC4C_uc001mxd.1_Missense_Mutation_p.V414G|LRRC4C_uc001mxb.1_Missense_Mutation_p.V414G	p.V418G	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3217	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	418			Ig-like C2-type.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1253T>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	A	9.028	0.986462	0.18889	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.105878	0.64402	D	0.000005	T	0.29491	0.0735	L	0.45137	1.4	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02698	-1.1122	10	0.42905	T	0.14	.	15.5264	0.75910	1.0:0.0:0.0:0.0	.	418	Q9HCJ2	LRC4C_HUMAN	G	418	ENSP00000278198:V418G;ENSP00000436976:V418G;ENSP00000437132:V418G;ENSP00000434761:V418G	ENSP00000278198:V418G	V	-	2	0	LRRC4C	40093166	1.000000	0.71417	0.997000	0.53966	0.759000	0.43091	7.467000	0.80930	2.261000	0.74972	0.533000	0.62120	GTG		PASS	0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		51	370	51	370	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43436245	43436245	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:43436245G>C	ENST00000039989.4	+	16	2184	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	TTC17_ENST00000299240.6_Missense_Mutation_p.E724Q|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	724					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.E724Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAAATGTCCAGAGTGTGAAAA	0.438																																						uc001mxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2170-2172)GAG>CAG		tetratricopeptide repeat domain 17							152.0	158.0	156.0					11																	43436245		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43436245G>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2170G>C	11.37:g.43436245G>C	ENSP00000039989:p.Glu724Gln					TTC17_uc001mxh.2_Missense_Mutation_p.E724Q|TTC17_uc010rfj.1_Missense_Mutation_p.E667Q|TTC17_uc001mxj.2_Missense_Mutation_p.E494Q	p.E724Q	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			16	2184	+			724					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2170G>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445639	0.43429	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.58940	0.3;0.3	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);	0.050300	0.85682	D	0.000000	T	0.40094	0.1103	N	0.12746	0.255	0.38167	D	0.939218	P;B;P	0.43578	0.714;0.192;0.811	B;B;B	0.36534	0.113;0.046;0.227	T	0.42882	-0.9425	10	0.28530	T	0.3	-17.9129	18.9556	0.92657	0.0:0.0:1.0:0.0	.	724;724;724	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	Q	724	ENSP00000299240:E724Q;ENSP00000039989:E724Q	ENSP00000039989:E724Q	E	+	1	0	TTC17	43392821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.745000	0.68672	2.464000	0.83262	0.563000	0.77884	GAG		PASS	0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		45	251	45	251	---	---	---	---
ATG13	9776	broad.mit.edu	37	11	46690091	46690091	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:46690091C>T	ENST00000434074.1	+	14	1884	c.1195C>T	c.(1195-1197)Ccc>Tcc	p.P399S	ATG13_ENST00000451945.1_Missense_Mutation_p.P362S|ATG13_ENST00000529655.1_Missense_Mutation_p.P362S|ATG13_ENST00000312040.4_Missense_Mutation_p.P399S|ATG13_ENST00000530500.1_Missense_Mutation_p.P283S|ATG13_ENST00000526508.1_Missense_Mutation_p.P399S|ATG13_ENST00000524625.1_Missense_Mutation_p.P362S|ATG13_ENST00000528494.1_Missense_Mutation_p.P432S|ATG13_ENST00000359513.4_Missense_Mutation_p.P399S	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	399					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)	p.P432S(1)|p.P362S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CATGTTTGCTCCCAAGAATTT	0.512																																						uc009yld.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1195-1197)CCC>TCC		autophagy-related protein 13 isoform 1							166.0	147.0	154.0					11																	46690091		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46690091C>T	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1195C>T	11.37:g.46690091C>T	ENSP00000400642:p.Pro399Ser					KIAA0652_uc001nda.2_Missense_Mutation_p.P432S|KIAA0652_uc001ndb.2_Missense_Mutation_p.P399S|KIAA0652_uc001ncz.2_Missense_Mutation_p.P362S|KIAA0652_uc001ndc.2_Missense_Mutation_p.P362S|KIAA0652_uc010rgv.1_Missense_Mutation_p.P283S	p.P399S	NM_001142673	NP_001136145	O75143	ATG13_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	15	1879	+			399					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.1195C>T	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656438	0.67586	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	5.96	5.04	0.67666	.	0.090377	0.85682	D	0.000000	T	0.58278	0.2111	L	0.40543	1.245	0.58432	D	0.999993	B;B;B;B	0.30870	0.064;0.209;0.298;0.173	B;B;B;B	0.34242	0.023;0.063;0.178;0.09	T	0.58036	-0.7707	9	0.48119	T	0.1	-21.9148	17.4343	0.87547	0.0:0.8758:0.1242:0.0	.	283;399;432;362	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	S	362;399;399;362;362;283;399;362;399;432;131	.	ENSP00000310321:P399S	P	+	1	0	ATG13	46646667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.310000	0.59141	1.508000	0.48769	0.655000	0.94253	CCC		PASS	0.512	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		41	145	41	145	---	---	---	---
ARFGAP2	84364	broad.mit.edu	37	11	47188357	47188357	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:47188357T>C	ENST00000524782.1	-	13	1514	c.1286A>G	c.(1285-1287)aAa>aGa	p.K429R	ARFGAP2_ENST00000319543.6_Missense_Mutation_p.K160R|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.K293R|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.K322R	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	429	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K429R(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGAGATGGCTTTGGCTCCTGC	0.582																																						uc001ndt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1285-1287)AAA>AGA		ADP-ribosylation factor GTPase activating							144.0	142.0	143.0					11																	47188357		2201	4299	6500	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47188357T>C	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.1286A>G	11.37:g.47188357T>C	ENSP00000434442:p.Lys429Arg					ARFGAP2_uc010rha.1_Missense_Mutation_p.K160R|ARFGAP2_uc010rhb.1_Missense_Mutation_p.K401R|ARFGAP2_uc001ndu.2_Missense_Mutation_p.K293R|ARFGAP2_uc010rhc.1_Missense_Mutation_p.K160R	p.K429R	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN			13	1301	-			429			Required for interaction with coatomer.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.1286A>G	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.675891	0.88445	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701;ENST00000526342	T;T;T;T;T	0.35789	2.01;2.34;1.82;1.87;1.29	5.91	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	M	0.86573	2.825	0.58432	D	0.999998	D;B;D	0.89917	1.0;0.049;0.999	D;B;D	0.91635	0.999;0.02;0.997	T	0.68538	-0.5382	10	0.66056	D	0.02	-12.5862	11.8792	0.52564	0.0:0.0676:0.0:0.9324	.	322;293;429	B4DX29;G5E9L0;Q8N6H7	.;.;ARFG2_HUMAN	R	293;429;160;322;136	ENSP00000400226:K293R;ENSP00000434442:K429R;ENSP00000327309:K160R;ENSP00000389264:K322R;ENSP00000437305:K136R	ENSP00000327309:K160R	K	-	2	0	ARFGAP2	47144933	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.698000	0.84413	1.066000	0.40716	-0.250000	0.11733	AAA		PASS	0.582	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		62	368	62	368	---	---	---	---
SPI1	6688	broad.mit.edu	37	11	47397209	47397209	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:47397209G>A	ENST00000378538.3	-	2	339	c.117C>T	c.(115-117)ctC>ctT	p.L39L	SPI1_ENST00000533968.1_Silent_p.L39L|SPI1_ENST00000227163.4_Silent_p.L40L|SPI1_ENST00000533030.1_Intron	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	39					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L33L(1)		central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CATCACTGCTGAGATAGGGGT	0.597																																						uc001nfc.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(115-117)CTC>CTT		hematopoietic transcription factor PU.1 isoform							185.0	158.0	167.0					11																	47397209		2201	4298	6499	SO:0001819	synonymous_variant	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47397209G>A	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.117C>T	11.37:g.47397209G>A						SPI1_uc001nfb.1_Silent_p.L40L|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Silent_p.L33L	p.L39L	NM_003120	NP_003111	P17947	SPI1_HUMAN		Lung(87;0.0967)	2	340	-			39						Silent	SNP	ENST00000378538.3	37	c.117C>T	CCDS7933.2																																																																																				PASS	0.597	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		62	134	62	134	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47776136	47776136	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:47776136C>G	ENST00000263773.5	-	3	406	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	132						nucleus (GO:0005634)		p.E132Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCATTTGTCTCTTTGGATTGT	0.408																																						uc009ylv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(394-396)GAG>CAG		formin binding protein 4							256.0	252.0	253.0					11																	47776136		2053	4195	6248	SO:0001583	missense	23360							g.chr11:47776136C>G	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.394G>C	11.37:g.47776136C>G	ENSP00000263773:p.Glu132Gln					FNBP4_uc001ngj.2_Missense_Mutation_p.E39Q|FNBP4_uc001ngl.2_Intron	p.E132Q	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			3	547	-			132					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.394G>C	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004153	0.54254	.	.	ENSG00000109920	ENST00000263773	T	0.33216	1.42	5.7	5.7	0.88788	.	0.326590	0.33959	N	0.004396	T	0.28433	0.0703	L	0.54323	1.7	0.30363	N	0.783633	P	0.48764	0.915	B	0.39531	0.302	T	0.34601	-0.9822	10	0.33940	T	0.23	-8.319	12.8089	0.57629	0.0:0.9251:0.0:0.0749	.	132	Q8N3X1	FNBP4_HUMAN	Q	132	ENSP00000263773:E132Q	ENSP00000263773:E132Q	E	-	1	0	FNBP4	47732712	1.000000	0.71417	0.134000	0.22075	0.982000	0.71751	3.182000	0.50910	2.716000	0.92895	0.644000	0.83932	GAG		PASS	0.408	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			26	184	26	184	---	---	---	---
OR4X2	119764	broad.mit.edu	37	11	48266731	48266731	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:48266731T>C	ENST00000302329.3	+	1	124	c.76T>C	c.(76-78)Ttg>Ctg	p.L26L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L26L(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATTTCTGTTCTTGTACACAGC	0.458																																						uc001ngs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(76-78)TTG>CTG		olfactory receptor, family 4, subfamily X,							202.0	169.0	180.0					11																	48266731		2201	4298	6499	SO:0001819	synonymous_variant	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266731T>C	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.76T>C	11.37:g.48266731T>C							p.L26L	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	76	+			26			Helical; Name=1; (Potential).		B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	c.76T>C	CCDS31486.1																																																																																				PASS	0.458	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		46	318	46	318	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406327	55406327	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:55406327C>G	ENST00000314612.2	+	1	494	c.494C>G	c.(493-495)cCa>cGa	p.P165R		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P165R(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATCTTTGTACCATTTTGTGGC	0.373																																						uc010rij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(493-495)CCA>CGA		olfactory receptor, family 4, subfamily P,							91.0	77.0	82.0					11																	55406327		2181	4003	6184	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406327C>G	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.494C>G	11.37:g.55406327C>G	ENSP00000324831:p.Pro165Arg						p.P165R	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	494	+			165			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.494C>G	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	8.370	0.835199	0.16820	.	.	ENSG00000181927	ENST00000314612	T	0.38240	1.15	5.37	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.607105	0.13796	N	0.362186	T	0.57519	0.2059	M	0.86268	2.805	0.09310	N	1	D	0.57257	0.979	D	0.69654	0.965	T	0.46816	-0.9164	10	0.87932	D	0	0.38	5.1464	0.14987	0.2894:0.556:0.0:0.1545	.	165	Q8NGL7	OR4P4_HUMAN	R	165	ENSP00000324831:P165R	ENSP00000324831:P165R	P	+	2	0	OR4P4	55162903	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.328000	0.19681	0.240000	0.21263	0.637000	0.83480	CCA		PASS	0.373	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		33	230	33	230	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418433	55418433	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:55418433C>A	ENST00000312422.2	+	1	54	c.54C>A	c.(52-54)agC>agA	p.S18R		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S18R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTCTCAGAGCCCAGAGATTG	0.373																																						uc001nhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(52-54)AGC>AGA		olfactory receptor, family 4, subfamily S,							79.0	70.0	73.0					11																	55418433		2180	4010	6190	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418433C>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.54C>A	11.37:g.55418433C>A	ENSP00000310337:p.Ser18Arg						p.S18R	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	54	+		all_epithelial(135;0.0748)	18			Extracellular (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.54C>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007000	0.19199	.	.	ENSG00000174982	ENST00000312422	T	0.01092	5.35	5.27	0.841	0.18918	.	0.214830	0.31989	N	0.006751	T	0.00845	0.0028	N	0.16016	0.355	0.09310	N	1	B	0.21905	0.062	B	0.18263	0.021	T	0.49031	-0.8981	10	0.72032	D	0.01	.	7.5583	0.27837	0.0:0.599:0.2502:0.1508	.	18	Q8NH73	OR4S2_HUMAN	R	18	ENSP00000310337:S18R	ENSP00000310337:S18R	S	+	3	2	OR4S2	55175009	0.000000	0.05858	0.135000	0.22099	0.600000	0.36913	-4.203000	0.00275	0.584000	0.29591	0.478000	0.44815	AGC		PASS	0.373	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		76	202	76	202	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55873189	55873190	+	Missense_Mutation	DNP	CC	CC	TG	rs138370909		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:55873189_55873190CC>TG	ENST00000313503.1	+	1	671_672	c.671_672CC>TG	c.(670-672)aCC>aTG	p.T224M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T224I(1)|p.T224M(1)|p.T224T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTCTCTTTACCATCCTGAAAA	0.386										HNSCC(53;0.14)																												uc010riy.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|skin(1)	2						c.(670-672)ACC>ATC|c.(670-672)ACC>ACG		olfactory receptor, family 8, subfamily H,																																				SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873189C>T|g.chr11:55873190C>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	Exception_encountered	11.37:g.55873189_55873190delinsTG	ENSP00000323982:p.Thr224Met	HNSCC(53;0.14)					p.T224I|p.T224T	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	671|672	+	Esophageal squamous(21;0.00693)		224			Cytoplasmic (Potential).		Q6IFC1	Missense_Mutation|Silent	SNP	ENST00000313503.1	37	c.671C>T|c.672C>G	CCDS31518.1																																																																																				PASS	0.386	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		71|69	209	69	209	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56020666	56020666	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:56020666G>T	ENST00000303059.3	+	1	991	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V331L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAAAAAGGCAGTGAAGAAAAT	0.299																																						uc010rjd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(991-993)GTG>TTG		olfactory receptor, family 5, subfamily T,							33.0	32.0	32.0					11																	56020666		2201	4292	6493	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020666G>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.991G>T	11.37:g.56020666G>T	ENSP00000305403:p.Val331Leu						p.V331L	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	991	+	Esophageal squamous(21;0.00448)		331			Cytoplasmic (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.991G>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	0.124	-1.122433	0.01785	.	.	ENSG00000172489	ENST00000303059	T	0.32515	1.45	4.32	-2.97	0.05530	.	0.793364	0.11059	U	0.604157	T	0.03651	0.0104	N	0.00104	-2.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38779	-0.9645	10	0.02654	T	1	.	1.0483	0.01574	0.3352:0.2837:0.2261:0.155	.	331	Q8NGG3	OR5T3_HUMAN	L	331	ENSP00000305403:V331L	ENSP00000305403:V331L	V	+	1	0	OR5T3	55777242	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.649000	0.00404	-0.263000	0.09378	-0.255000	0.11280	GTG		PASS	0.299	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		20	66	20	66	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56057802	56057802	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:56057802C>G	ENST00000313022.2	-	1	764	c.737G>C	c.(736-738)gGa>gCa	p.G246A		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G246A(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GATGGTGACTCCCAAGAGATG	0.358																																						uc010rje.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(736-738)GGA>GCA		olfactory receptor, family 8, subfamily H,							100.0	96.0	97.0					11																	56057802		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56057802C>G	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.737G>C	11.37:g.56057802C>G	ENSP00000323595:p.Gly246Ala						p.G246A	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	737	-	Esophageal squamous(21;0.00448)		246			Helical; Name=6; (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.737G>C	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.999862	0.00044	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00030	8.9	3.86	-0.829	0.10796	GPCR, rhodopsin-like superfamily (1);	0.263566	0.27433	N	0.019395	T	0.00039	0.0001	N	0.00677	-1.265	0.09310	N	1	B	0.06786	0.001	B	0.20184	0.028	T	0.40720	-0.9548	10	0.02654	T	1	.	6.9065	0.24311	0.506:0.2567:0.2373:0.0	.	246	Q8NGG4	OR8H1_HUMAN	A	246;242	ENSP00000323595:G246A	ENSP00000323595:G246A	G	-	2	0	OR8H1	55814378	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.008000	0.13197	0.044000	0.15775	-0.941000	0.02677	GGA		PASS	0.358	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		32	176	32	176	---	---	---	---
SMTNL1	219537	broad.mit.edu	37	11	57310459	57310459	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:57310459A>T	ENST00000399154.2	+	1	344	c.344A>T	c.(343-345)aAa>aTa	p.K115I	SMTNL1_ENST00000457912.1_Missense_Mutation_p.K133I|SMTNL1_ENST00000527972.1_Missense_Mutation_p.K115I			A8MU46	SMTL1_HUMAN	smoothelin-like 1	115	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K133I(2)		endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						ACTGGCAGGAAAGAAGAGACC	0.517																																						uc009ymh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(397-399)AAA>ATA		smoothelin-like 1							39.0	40.0	40.0					11																	57310459		1969	4173	6142	SO:0001583	missense	219537							g.chr11:57310459A>T	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.344A>T	11.37:g.57310459A>T	ENSP00000382108:p.Lys115Ile						p.K133I	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			2	398	+			115						Missense_Mutation	SNP	ENST00000399154.2	37	c.398A>T		.	.	.	.	.	.	.	.	.	.	A	16.30	3.085826	0.55861	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02863	4.25;4.25;4.13	4.64	4.64	0.57946	.	0.507655	0.14625	U	0.308198	T	0.06142	0.0159	L	0.34521	1.04	0.29062	N	0.883817	D	0.58970	0.984	P	0.55161	0.77	T	0.13845	-1.0494	10	0.72032	D	0.01	-15.9462	10.4027	0.44239	1.0:0.0:0.0:0.0	.	133	C9J621	.	I	133;115;115	ENSP00000406485:K133I;ENSP00000432651:K115I;ENSP00000382108:K115I	ENSP00000382108:K115I	K	+	2	0	SMTNL1	57067035	0.996000	0.38824	0.883000	0.34634	0.298000	0.27526	1.756000	0.38390	1.960000	0.56953	0.533000	0.62120	AAA		PASS	0.517	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		4	15	4	15	---	---	---	---
CLP1	10978	broad.mit.edu	37	11	57428587	57428587	+	Silent	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:57428587C>A	ENST00000302731.4	+	3	885	c.765C>A	c.(763-765)gtC>gtA	p.V255V	CLP1_ENST00000529430.1_Silent_p.V330V|CLP1_ENST00000525602.1_Silent_p.V319V|CLP1_ENST00000533682.1_Silent_p.V319V	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	626					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.V319V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						CCTTCAATGTCAAATTTTCAG	0.478																																						uc001nkw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(955-957)GTC>GTA		ATP/GTP-binding protein isoform 1							140.0	148.0	145.0					11																	57428587		2201	4296	6497	SO:0001819	synonymous_variant	10978				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	g.chr11:57428587C>A	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.765C>A	11.37:g.57428587C>A						CLP1_uc010rjw.1_Silent_p.V255V|CLP1_uc009yml.2_Silent_p.V319V	p.V319V	NM_006831	NP_006822	Q92989	CLP1_HUMAN			3	1096	+			319					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000302731.4	37	c.957C>A	CCDS44600.1																																																																																				PASS	0.478	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1	NM_006831		57	360	57	360	---	---	---	---
OR6Q1	219952	broad.mit.edu	37	11	57799089	57799089	+	Missense_Mutation	SNP	A	A	T	rs529254367		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:57799089A>T	ENST00000302622.3	+	1	688	c.665A>T	c.(664-666)tAt>tTt	p.Y222F	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y222F(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GCTGTGTCCTATGGCAACATC	0.557																																						uc010rjz.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(664-666)TAT>TTT		olfactory receptor, family 6, subfamily Q,							189.0	155.0	167.0					11																	57799089		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799089A>T	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.665A>T	11.37:g.57799089A>T	ENSP00000307734:p.Tyr222Phe					OR9Q1_uc001nmj.2_Intron	p.Y222F	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	665	+		Breast(21;0.0707)|all_epithelial(135;0.142)	222			Cytoplasmic (Potential).		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.665A>T	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.558135	0.65538	.	.	ENSG00000172381	ENST00000302622	T	0.00495	6.99	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	N	0.003537	T	0.03220	0.0094	H	0.96430	3.82	0.40808	D	0.98339	D	0.89917	1.0	D	0.97110	1.0	T	0.02942	-1.1091	10	0.87932	D	0	.	13.7793	0.63073	1.0:0.0:0.0:0.0	.	222	Q8NGQ2	OR6Q1_HUMAN	F	222	ENSP00000307734:Y222F	ENSP00000307734:Y222F	Y	+	2	0	OR6Q1	57555665	1.000000	0.71417	0.949000	0.38748	0.342000	0.28953	6.944000	0.75940	1.897000	0.54924	0.523000	0.50628	TAT		PASS	0.557	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		78	145	78	145	---	---	---	---
OR10W1	81341	broad.mit.edu	37	11	58034692	58034692	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:58034692C>T	ENST00000395079.2	-	1	1040	c.639G>A	c.(637-639)gtG>gtA	p.V213V		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V213V(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCAGAGCAGCCACTATGAAGG	0.577																																						uc001nmq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(637-639)GTG>GTA		olfactory receptor, family 10, subfamily W,							98.0	90.0	93.0					11																	58034692		2201	4295	6496	SO:0001819	synonymous_variant	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034692C>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.639G>A	11.37:g.58034692C>T							p.V213V	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	1041	-		Breast(21;0.0589)	213			Cytoplasmic (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	ENST00000395079.2	37	c.639G>A	CCDS7968.1																																																																																				PASS	0.577	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		12	33	12	33	---	---	---	---
GLYATL1	92292	broad.mit.edu	37	11	58715439	58715439	+	Splice_Site	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:58715439G>A	ENST00000317391.4	+	5	526		c.e5+1		GLYATL1_ENST00000300079.5_Splice_Site|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1							mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.?(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TCAAAAGCAGGTAGGCACACA	0.522																																						uc001nnf.2																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e5+1		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						93.0	74.0	80.0					11																	58715439		2201	4295	6496	SO:0001630	splice_region_variant	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58715439G>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.186+1G>A	11.37:g.58715439G>A						uc001nng.1_Intron|GLYATL1_uc001nnh.1_Splice_Site_p.Q93_splice|GLYATL1_uc001nni.1_Splice_Site_p.Q62_splice|GLYATL1_uc001nnj.1_Splice_Site_p.Q62_splice	p.Q62_splice			Q969I3	GLYL1_HUMAN			5	562	+								A6NDT0|Q7Z510|Q8NAW8	Splice_Site	SNP	ENST00000317391.4	37	c.186_splice	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	10.29	1.309685	0.23821	.	.	ENSG00000166840	ENST00000525608;ENST00000526351;ENST00000317391;ENST00000532726;ENST00000300079	.	.	.	3.4	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1168	0.42596	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLYATL1	58472015	0.990000	0.36364	0.383000	0.26132	0.010000	0.07245	0.917000	0.28665	1.692000	0.51112	0.411000	0.27672	.		PASS	0.522	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661	Intron	22	69	22	69	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58978605	58978605	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:58978605G>C	ENST00000361050.3	-	1	1819	c.1734C>G	c.(1732-1734)gtC>gtG	p.V578V		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	578						integral component of membrane (GO:0016021)		p.V578V(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCCCGGATTTGACGCAATAGG	0.597																																						uc001nnu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1732-1734)GTC>GTG		macrophage expressed gene 1 precursor							74.0	83.0	80.0					11																	58978605		1947	4131	6078	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58978605G>C	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1734C>G	11.37:g.58978605G>C							p.V578V	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	1890	-		all_epithelial(135;0.125)	578			Extracellular (Potential).		Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.1734C>G	CCDS41650.1																																																																																				PASS	0.597	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		73	186	73	186	---	---	---	---
OR5AN1	390195	broad.mit.edu	37	11	59131934	59131934	+	Start_Codon_SNP	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:59131934G>C	ENST00000313940.2	+	1	50	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M1I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTGAGCCAATGACTGGGGGAG	0.398																																						uc010rks.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1-3)ATG>ATC		olfactory receptor, family 5, subfamily AN,							62.0	57.0	59.0					11																	59131934		2201	4295	6496	SO:0001582	initiator_codon_variant	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59131934G>C	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.3G>C	11.37:g.59131934G>C	ENSP00000320302:p.Met1Ile						p.M1I	NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN			1	3	+			1			Extracellular (Potential).		B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.3G>C	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924631	0.52653	.	.	ENSG00000176495	ENST00000313940	T	0.00353	7.94	4.41	3.48	0.39840	.	0.305558	0.23793	N	0.044513	T	0.00524	0.0017	.	.	.	0.58432	D	0.999999	D	0.61080	0.989	D	0.68483	0.958	D	0.84761	0.0762	9	0.34782	T	0.22	-12.5461	10.0522	0.42223	0.0994:0.0:0.9006:0.0	.	1	Q8NGI8	O5AN1_HUMAN	I	1	ENSP00000320302:M1I	ENSP00000320302:M1I	M	+	3	0	OR5AN1	58888510	0.011000	0.17503	0.656000	0.29637	0.038000	0.13279	1.208000	0.32345	0.930000	0.37217	0.651000	0.88453	ATG		PASS	0.398	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729	Missense_Mutation	18	151	18	151	---	---	---	---
OSBP	5007	broad.mit.edu	37	11	59368769	59368769	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:59368769T>G	ENST00000263847.1	-	5	1590	c.1111A>C	c.(1111-1113)Aat>Cat	p.N371H		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	371					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)	p.N371H(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGCCCAAATTTTCAGGCATG	0.378																																						uc001noc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1111-1113)AAT>CAT		oxysterol binding protein							122.0	110.0	114.0					11																	59368769		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59368769T>G	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1111A>C	11.37:g.59368769T>G	ENSP00000263847:p.Asn371His					OSBP_uc009ymr.1_5'Flank	p.N371H	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	5	1591	-		all_epithelial(135;0.000236)	371					Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.1111A>C	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443527	0.43429	.	.	ENSG00000110048	ENST00000263847	T	0.31247	1.5	5.52	5.52	0.82312	.	0.318234	0.36815	N	0.002400	T	0.17280	0.0415	N	0.11560	0.145	0.32900	D	0.513082	B	0.06786	0.001	B	0.06405	0.002	T	0.10086	-1.0645	10	0.54805	T	0.06	-19.5414	9.8021	0.40770	0.0:0.0774:0.0:0.9226	.	371	P22059	OSBP1_HUMAN	H	371	ENSP00000263847:N371H	ENSP00000263847:N371H	N	-	1	0	OSBP	59125345	0.542000	0.26426	0.999000	0.59377	0.997000	0.91878	3.047000	0.49854	2.111000	0.64477	0.533000	0.62120	AAT		PASS	0.378	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			21	122	21	122	---	---	---	---
OSBP	5007	broad.mit.edu	37	11	59368814	59368814	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:59368814C>G	ENST00000263847.1	-	5	1545	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	356					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)	p.E356Q(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AATTCATTCTCATCATCTTCA	0.393																																						uc001noc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1066-1068)GAG>CAG		oxysterol binding protein							146.0	131.0	136.0					11																	59368814		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59368814C>G	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1066G>C	11.37:g.59368814C>G	ENSP00000263847:p.Glu356Gln					OSBP_uc009ymr.1_5'Flank	p.E356Q	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	5	1546	-		all_epithelial(135;0.000236)	356					Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.1066G>C	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601856	0.87055	.	.	ENSG00000110048	ENST00000263847	T	0.35973	1.28	5.52	4.61	0.57282	.	0.138830	0.64402	D	0.000006	T	0.49012	0.1532	M	0.61703	1.905	0.54753	D	0.999989	D	0.53312	0.959	P	0.54590	0.756	T	0.45891	-0.9230	10	0.37606	T	0.19	-27.3575	13.9898	0.64359	0.0:0.9265:0.0:0.0735	.	356	P22059	OSBP1_HUMAN	Q	356	ENSP00000263847:E356Q	ENSP00000263847:E356Q	E	-	1	0	OSBP	59125390	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.792000	0.85828	1.353000	0.45828	0.655000	0.94253	GAG		PASS	0.393	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			21	143	21	143	---	---	---	---
MS4A8	83661	broad.mit.edu	37	11	60470904	60470904	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:60470904G>C	ENST00000300226.2	+	3	476	c.273G>C	c.(271-273)gcG>gcC	p.A91A		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	91						integral component of membrane (GO:0016021)		p.A91A(1)									CCATCATGGCGACGGTTCTCG	0.557																																						uc001npv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(271-273)GCG>GCC		membrane-spanning 4-domains, subfamily A, member							148.0	136.0	140.0					11																	60470904		2203	4300	6503	SO:0001819	synonymous_variant	83661					integral to membrane	receptor activity	g.chr11:60470904G>C	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.273G>C	11.37:g.60470904G>C						MS4A8B_uc009yne.1_Silent_p.A91A	p.A91A	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			3	476	+			91			Helical; (Potential).		Q8TCA5	Silent	SNP	ENST00000300226.2	37	c.273G>C	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	G	3.668	-0.068136	0.07228	.	.	ENSG00000166959	ENST00000525458	.	.	.	3.62	1.55	0.23275	.	.	.	.	.	T	0.36138	0.0956	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24190	-1.0167	4	.	.	.	0.0772	10.1899	0.43019	0.0:0.4792:0.5208:0.0	.	.	.	.	P	73	.	.	R	+	2	0	MS4A8B	60227480	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.448000	0.06820	0.093000	0.17368	0.491000	0.48974	CGA		PASS	0.557	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			39	209	39	209	---	---	---	---
SLC15A3	51296	broad.mit.edu	37	11	60714117	60714117	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:60714117G>C	ENST00000227880.3	-	2	968	c.735C>G	c.(733-735)ctC>ctG	p.L245L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	245					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.L245L(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGGTGGCAAAGAGGAAGATGA	0.572																																						uc001nqn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(733-735)CTC>CTG		solute carrier family 15, member 3							81.0	80.0	80.0					11																	60714117		2203	4299	6502	SO:0001819	synonymous_variant	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60714117G>C	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.735C>G	11.37:g.60714117G>C						SLC15A3_uc001nqo.2_Silent_p.L245L	p.L245L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN			2	969	-			245			Helical; (Potential).		Q9P2X9	Silent	SNP	ENST00000227880.3	37	c.735C>G	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	G	9.059	0.993958	0.19043	.	.	ENSG00000110446	ENST00000442626	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	T	0.65565	0.2703	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65236	-0.6217	5	0.46703	T	0.11	-40.8113	11.9829	0.53129	0.0:0.0:0.8264:0.1736	.	.	.	.	C	245	.	ENSP00000403318:S245C	S	-	2	0	SLC15A3	60470693	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.872000	0.28037	2.596000	0.87737	0.591000	0.81541	TCT		PASS	0.572	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		26	164	26	164	---	---	---	---
FTH1	2495	broad.mit.edu	37	11	61732578	61732578	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:61732578C>T	ENST00000273550.7	-	3	502	c.268G>A	c.(268-270)Gac>Aac	p.D90N	FTH1_ENST00000529191.1_Intron|FTH1_ENST00000532601.1_Missense_Mutation_p.D20N|FTH1_ENST00000529631.1_Intron|AP003733.1_ENST00000601917.1_5'Flank|FTH1_ENST00000526640.1_Missense_Mutation_p.D60N|BEST1_ENST00000449131.2_3'UTR	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	90	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)	p.D90N(1)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TCATCACAGTCTGGTTTCTGA	0.443																																						uc001nsu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(268-270)GAC>AAC		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						141.0	142.0	141.0					11																	61732578		1927	4151	6078	SO:0001583	missense	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732578C>T		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.268G>A	11.37:g.61732578C>T	ENSP00000273550:p.Asp90Asn						p.D90N	NM_002032	NP_002023	P02794	FRIH_HUMAN			3	503	-			90			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	c.268G>A	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	14.32	2.499061	0.44455	.	.	ENSG00000167996	ENST00000273550;ENST00000406545;ENST00000526640;ENST00000532601;ENST00000529548	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.5	4.5	0.54988	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.245067	0.46758	D	0.000265	T	0.72803	0.3506	M	0.86502	2.82	0.80722	D	1	B	0.14805	0.011	B	0.17979	0.02	T	0.75252	-0.3383	10	0.72032	D	0.01	.	17.3599	0.87347	0.0:1.0:0.0:0.0	.	90	P02794	FRIH_HUMAN	N	90;139;60;20;20	ENSP00000273550:D90N;ENSP00000433321:D60N;ENSP00000435111:D20N;ENSP00000436947:D20N	ENSP00000273550:D90N	D	-	1	0	FTH1	61489154	1.000000	0.71417	0.993000	0.49108	0.318000	0.28184	7.598000	0.82745	2.486000	0.83907	0.563000	0.77884	GAC		PASS	0.443	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		51	486	51	486	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62288670	62288670	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:62288670G>C	ENST00000378024.4	-	5	13493	c.13219C>G	c.(13219-13221)Ctg>Gtg	p.L4407V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4407					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.L4407V(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)				ACTTTGGGCAGAGAGACATCC	0.473																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(13219-13221)CTG>GTG		AHNAK nucleoprotein isoform 1							141.0	148.0	146.0					11																	62288670		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288670G>C	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	ENST00000378024.4:c.13219C>G	11.37:g.62288670G>C	ENSP00000367263:p.Leu4407Val					AHNAK_uc001ntk.1_Intron	p.L4407V	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13519	-		Melanoma(852;0.155)	4407					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13219C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	1.041	-0.678858	0.03378	.	.	ENSG00000124942	ENST00000378024	T	0.05382	3.45	4.6	0.507	0.16967	.	1.402050	0.05183	N	0.501688	T	0.11452	0.0279	L	0.28556	0.865	0.09310	N	1	D	0.67145	0.996	D	0.77557	0.99	T	0.24512	-1.0158	10	0.29301	T	0.29	.	1.25	0.01980	0.2523:0.2692:0.341:0.1375	.	4407	Q09666	AHNK_HUMAN	V	4407	ENSP00000367263:L4407V	ENSP00000367263:L4407V	L	-	1	2	AHNAK	62045246	0.000000	0.05858	0.162000	0.22713	0.521000	0.34408	-4.141000	0.00287	-0.105000	0.12132	0.551000	0.68910	CTG		PASS	0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		65	404	65	404	---	---	---	---
ZBTB3	79842	broad.mit.edu	37	11	62519630	62519630	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:62519630C>G	ENST00000394807.3	-	2	1782	c.1657G>C	c.(1657-1659)Gac>Cac	p.D553H		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	553					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.D553H(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CTCTGTCTGTCTGCTGTTGGG	0.552																																						uc001nuz.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1657-1659)GAC>CAC		zinc finger and BTB domain containing 3							86.0	82.0	83.0					11																	62519630		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62519630C>G	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1657G>C	11.37:g.62519630C>G	ENSP00000378286:p.Asp553His						p.D553H	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			2	1779	-			553						Missense_Mutation	SNP	ENST00000394807.3	37	c.1657G>C	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692489	0.48202	.	.	ENSG00000185670	ENST00000394807	T	0.12879	2.64	4.3	4.3	0.51218	.	0.410133	0.17804	N	0.161480	T	0.09158	0.0226	N	0.19112	0.55	0.24012	N	0.996174	P	0.48640	0.913	B	0.37780	0.258	T	0.17018	-1.0383	10	0.62326	D	0.03	.	12.6425	0.56716	0.0:1.0:0.0:0.0	.	553	Q9H5J0	ZBTB3_HUMAN	H	553	ENSP00000378286:D553H	ENSP00000378286:D553H	D	-	1	0	ZBTB3	62276206	0.986000	0.35501	0.945000	0.38365	0.991000	0.79684	1.192000	0.32150	2.130000	0.65690	0.561000	0.74099	GAC		PASS	0.552	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		30	121	30	121	---	---	---	---
TAF6L	10629	broad.mit.edu	37	11	62554031	62554031	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:62554031G>C	ENST00000294168.3	+	11	1333	c.1132G>C	c.(1132-1134)Gag>Cag	p.E378Q	TMEM179B_ENST00000533861.1_5'Flank|RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000333449.4_5'Flank	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	378					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E378Q(1)		endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCAGGCAGCAGAGCCCAACAG	0.612											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nvc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1132-1134)GAG>CAG		TAF6-like RNA polymerase II							16.0	17.0	17.0					11																	62554031		2201	4294	6495	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62554031G>C	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1132G>C	11.37:g.62554031G>C	ENSP00000294168:p.Glu378Gln		OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1062	TMEM179B_uc001nvd.3_5'Flank	p.E378Q	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN			11	1233	+			378					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.1132G>C	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072796	0.36566	.	.	ENSG00000162227	ENST00000294168	T	0.45668	0.89	4.21	4.21	0.49690	.	0.207411	0.41500	D	0.000865	T	0.34745	0.0908	N	0.04508	-0.205	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.09465	-1.0673	10	0.24483	T	0.36	-2.4453	9.7264	0.40335	0.0:0.0:0.7938:0.2062	.	378	Q9Y6J9	TAF6L_HUMAN	Q	378	ENSP00000294168:E378Q	ENSP00000294168:E378Q	E	+	1	0	TAF6L	62310607	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.883000	0.56168	2.634000	0.89283	0.655000	0.94253	GAG		PASS	0.612	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		7	20	7	20	---	---	---	---
SLC3A2	6520	broad.mit.edu	37	11	62650436	62650436	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:62650436T>C	ENST00000377890.2	+	6	1126	c.958T>C	c.(958-960)Tcc>Ccc	p.S320P	SLC3A2_ENST00000377889.2_Missense_Mutation_p.S258P|SLC3A2_ENST00000535296.1_Missense_Mutation_p.S289P|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377891.2_Missense_Mutation_p.S321P|SLC3A2_ENST00000377892.1_Missense_Mutation_p.S351P|SLC3A2_ENST00000338663.7_Missense_Mutation_p.S219P|SLC3A2_ENST00000536981.1_5'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	320				S -> F (in Ref. 5; AAA35489). {ECO:0000305}.	amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.S351P(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCGTGGTTCTCCACTCAGGT	0.532																																						uc001nwd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(958-960)TCC>CCC		solute carrier family 3, member 2 isoform c							151.0	120.0	131.0					11																	62650436		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62650436T>C		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.958T>C	11.37:g.62650436T>C	ENSP00000367122:p.Ser320Pro					SLC3A2_uc001nwb.2_Missense_Mutation_p.S351P|SLC3A2_uc001nwc.2_Missense_Mutation_p.S321P|SLC3A2_uc001nwe.2_Missense_Mutation_p.S289P|SLC3A2_uc001nwf.2_Missense_Mutation_p.S258P|SLC3A2_uc001nwg.2_Missense_Mutation_p.S219P|SLC3A2_uc010rml.1_RNA	p.S320P	NM_002394	NP_002385	P08195	4F2_HUMAN			6	1182	+			320	S -> F (in Ref. 5; AAA35489).		Extracellular (Potential).		Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.958T>C	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	T	9.905	1.207891	0.22205	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606	D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.88;-4.94;-4.94	4.75	2.72	0.32119	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);	2.053890	0.01738	N	0.029261	D	0.91821	0.7412	N	0.01640	-0.785	0.09310	N	0.999999	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.002;0.0;0.001	D	0.87699	0.2559	10	0.25106	T	0.35	-10.0569	3.2765	0.06901	0.1988:0.5483:0.0:0.2529	.	258;289;320;219;351	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	P	351;321;320;321;258;289;219;201	ENSP00000367124:S351P;ENSP00000367123:S321P;ENSP00000367122:S320P;ENSP00000367121:S258P;ENSP00000444236:S289P;ENSP00000340815:S219P	ENSP00000340815:S219P	S	+	1	0	SLC3A2	62407012	0.000000	0.05858	0.712000	0.30502	0.533000	0.34776	0.974000	0.29436	0.427000	0.26145	0.459000	0.35465	TCC		PASS	0.532	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		50	141	50	141	---	---	---	---
SLC22A25	387601	broad.mit.edu	37	11	62933655	62933655	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:62933655C>G	ENST00000306494.6	-	7	1145	c.1146G>C	c.(1144-1146)caG>caC	p.Q382H	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25									p.Q382H(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAAAGAGAGTCTGCAACAGGA	0.498																																						uc001nwr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1144-1146)CAG>CAC		putative UST1-like organic anion transporter							123.0	105.0	111.0					11																	62933655		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62933655C>G	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1146G>C	11.37:g.62933655C>G	ENSP00000307443:p.Gln382His					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_3'UTR	p.Q382H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			7	1146	-			382			Helical; Name=8; (Potential).			Missense_Mutation	SNP	ENST00000306494.6	37	c.1146G>C	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250092	0.39797	.	.	ENSG00000196600	ENST00000306494	T	0.57436	0.4	4.66	1.6	0.23607	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.060040	0.64402	N	0.000002	T	0.72859	0.3513	M	0.93375	3.41	0.19775	N	0.999958	D	0.89917	1.0	D	0.85130	0.997	T	0.62868	-0.6763	10	0.72032	D	0.01	.	3.7798	0.08676	0.1889:0.591:0.0:0.2202	.	382	Q6T423	S22AP_HUMAN	H	382	ENSP00000307443:Q382H	ENSP00000307443:Q382H	Q	-	3	2	SLC22A25	62690231	0.132000	0.22450	0.002000	0.10522	0.001000	0.01503	0.188000	0.17018	0.048000	0.15891	-0.232000	0.12228	CAG		PASS	0.498	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		23	78	23	78	---	---	---	---
LGALS12	85329	broad.mit.edu	37	11	63276044	63276044	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:63276044C>G	ENST00000394618.3	+	2	446	c.155C>G	c.(154-156)aCg>aGg	p.T52R	LGALS12_ENST00000340246.5_Missense_Mutation_p.T52R|LGALS12_ENST00000255684.5_Missense_Mutation_p.T52R|LGALS12_ENST00000425950.2_5'UTR|LGALS12_ENST00000415491.2_5'UTR	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	52	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.T52R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TATGTCACGACGATTTTTGGA	0.547																																						uc001nxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(154-156)ACG>AGG		lectin, galactoside-binding, soluble, 12 isoform							100.0	90.0	93.0					11																	63276044		2201	4298	6499	SO:0001583	missense	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63276044C>G	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.155C>G	11.37:g.63276044C>G	ENSP00000378116:p.Thr52Arg					LGALS12_uc001nxb.2_Missense_Mutation_p.T52R|LGALS12_uc001nxc.2_Missense_Mutation_p.T52R|LGALS12_uc001nxd.2_5'UTR|LGALS12_uc001nxe.2_5'UTR|LGALS12_uc009yot.2_Missense_Mutation_p.D14E	p.T52R	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN			2	496	+			52			Galectin 1.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	c.155C>G	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430789	0.43122	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246	T;T;T	0.05447	3.44;3.44;3.44	5.51	5.51	0.81932	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (3);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000009	T	0.08714	0.0216	L	0.35644	1.08	0.80722	D	1	B;B;P	0.44478	0.266;0.049;0.836	B;B;P	0.45343	0.082;0.046;0.477	T	0.41556	-0.9502	10	0.14252	T	0.57	-10.8291	17.2949	0.87168	0.0:1.0:0.0:0.0	.	52;52;52	G5E970;Q96DT0-3;Q96DT0	.;.;LEG12_HUMAN	R	52	ENSP00000255684:T52R;ENSP00000378116:T52R;ENSP00000339374:T52R	ENSP00000255684:T52R	T	+	2	0	LGALS12	63032620	0.978000	0.34361	0.102000	0.21198	0.441000	0.31987	5.840000	0.69402	2.779000	0.95612	0.655000	0.94253	ACG		PASS	0.547	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		17	76	17	76	---	---	---	---
STIP1	10963	broad.mit.edu	37	11	63961973	63961973	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:63961973C>G	ENST00000305218.4	+	4	531	c.384C>G	c.(382-384)ttC>ttG	p.F128L	STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.F128L|STIP1_ENST00000358794.5_Missense_Mutation_p.F175L|STIP1_ENST00000538945.1_Missense_Mutation_p.F104L	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	128					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F128L(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TGAACCCTTTCAACATGCCTA	0.438																																						uc001nyk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)	3						c.(382-384)TTC>TTG		stress-induced-phosphoprotein 1							113.0	108.0	109.0					11																	63961973		2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63961973C>G	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.384C>G	11.37:g.63961973C>G	ENSP00000305958:p.Phe128Leu					STIP1_uc001nyj.2_Missense_Mutation_p.F128L|STIP1_uc010rnb.1_Missense_Mutation_p.F104L	p.F128L	NM_006819	NP_006810	P31948	STIP1_HUMAN			4	531	+			128					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.384C>G	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.545017	0.65198	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000543847	T;T;T;T	0.21191	2.02;2.02;2.09;2.02	5.57	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.77313	2.365	0.58432	D	0.999991	B;B;B	0.30104	0.268;0.041;0.16	B;B;B	0.36186	0.178;0.034;0.219	T	0.06285	-1.0835	10	0.29301	T	0.29	-31.4336	13.6364	0.62225	0.0:0.9242:0.0:0.0758	.	104;128;128	F5H0T1;P31948;F5H783	.;STIP1_HUMAN;.	L	175;128;104;128	ENSP00000351646:F175L;ENSP00000305958:F128L;ENSP00000445957:F104L;ENSP00000442704:F128L	ENSP00000305958:F128L	F	+	3	2	STIP1	63718549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.024000	0.41049	1.490000	0.48466	0.650000	0.86243	TTC		PASS	0.438	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		4	143	4	143	---	---	---	---
STIP1	10963	broad.mit.edu	37	11	63963170	63963170	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:63963170A>T	ENST00000305218.4	+	5	704	c.557A>T	c.(556-558)gAt>gTt	p.D186V	STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.D186V|STIP1_ENST00000358794.5_Missense_Mutation_p.D233V|STIP1_ENST00000538945.1_Missense_Mutation_p.D162V	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	186					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D186V(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CTTGGGGTCGATCTGGGCAGT	0.468																																						uc001nyk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)	3						c.(556-558)GAT>GTT		stress-induced-phosphoprotein 1							100.0	93.0	95.0					11																	63963170		2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63963170A>T	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.557A>T	11.37:g.63963170A>T	ENSP00000305958:p.Asp186Val					STIP1_uc001nyj.2_Missense_Mutation_p.D186V|STIP1_uc010rnb.1_Missense_Mutation_p.D162V	p.D186V	NM_006819	NP_006810	P31948	STIP1_HUMAN			5	704	+			186					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.557A>T	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878808	0.72294	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000543847	T;T;T;T	0.74106	2.26;2.51;2.22;-0.81	5.41	5.41	0.78517	.	0.115677	0.64402	D	0.000017	D	0.83087	0.5178	M	0.76727	2.345	0.80722	D	1	P;P;P	0.47253	0.677;0.892;0.723	P;P;P	0.59056	0.558;0.682;0.851	T	0.81230	-0.1027	10	0.27082	T	0.32	-24.2616	14.7881	0.69819	1.0:0.0:0.0:0.0	.	162;186;186	F5H0T1;P31948;F5H783	.;STIP1_HUMAN;.	V	233;186;162;186	ENSP00000351646:D233V;ENSP00000305958:D186V;ENSP00000445957:D162V;ENSP00000442704:D186V	ENSP00000305958:D186V	D	+	2	0	STIP1	63719746	1.000000	0.71417	0.966000	0.40874	0.911000	0.54048	7.789000	0.85783	2.211000	0.71520	0.454000	0.30748	GAT		PASS	0.468	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		10	55	10	55	---	---	---	---
SLC22A20	440044	broad.mit.edu	37	11	64990981	64990981	+	RNA	SNP	T	T	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:64990981T>G	ENST00000525437.1	+	0	1011							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.L270R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TGTCTGCACCTCCAACTCAAT	0.542																																						uc010roc.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(973-975)TCC>GCC		solute carrier family 22, member 20							103.0	105.0	104.0					11																	64990981		1984	4153	6137			440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64990981T>G	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64990981T>G						SLC22A20_uc010rob.1_Missense_Mutation_p.L268R	p.S325A	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN			7	976	+			325			Cytoplasmic (Potential).		B9EJB2|Q6ZN88	Missense_Mutation	SNP	ENST00000525437.1	37	c.973T>G																																																																																					PASS	0.542	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		7	56	7	56	---	---	---	---
FRMD8	83786	broad.mit.edu	37	11	65161798	65161798	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:65161798C>G	ENST00000317568.5	+	6	646	c.483C>G	c.(481-483)taC>taG	p.Y161*	FRMD8_ENST00000416776.2_Nonsense_Mutation_p.Y127*|FRMD8_ENST00000355991.5_Nonsense_Mutation_p.Y105*	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	161	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.Y161*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CTGCACGGTACCCGTGCGACG	0.701																																						uc001odu.3																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(481-483)TAC>TAG		FERM domain containing 8							30.0	26.0	28.0					11																	65161798		2185	4290	6475	SO:0001587	stop_gained	83786					cytoskeleton	binding	g.chr11:65161798C>G	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.483C>G	11.37:g.65161798C>G	ENSP00000319726:p.Tyr161*					FRMD8_uc009yqj.2_Nonsense_Mutation_p.Y105*|FRMD8_uc010rof.1_Nonsense_Mutation_p.Y127*	p.Y161*	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN			6	675	+			161			FERM.		B4E2P1|Q86V56|Q8NCB5	Nonsense_Mutation	SNP	ENST00000317568.5	37	c.483C>G	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923063	0.52653	.	.	ENSG00000126391	ENST00000317568;ENST00000533782;ENST00000355991;ENST00000416776;ENST00000526201	.	.	.	4.81	3.89	0.44902	.	0.139018	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8107	10.6176	0.45460	0.0:0.8263:0.0:0.1737	.	.	.	.	X	161;105;105;127;119	.	ENSP00000319726:Y161X	Y	+	3	2	FRMD8	64918374	1.000000	0.71417	0.997000	0.53966	0.041000	0.13682	0.833000	0.27504	0.571000	0.29365	-1.164000	0.01763	TAC		PASS	0.701	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		3	8	3	8	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65308030	65308030	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:65308030C>T	ENST00000301873.5	-	22	3301	c.3033G>A	c.(3031-3033)gtG>gtA	p.V1011V	LTBP3_ENST00000532932.1_Silent_p.V441V|LTBP3_ENST00000529189.1_Silent_p.V14V|LTBP3_ENST00000530785.1_Silent_p.V14V|LTBP3_ENST00000536982.1_Silent_p.V637V|LTBP3_ENST00000322147.4_Silent_p.V1011V	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1011	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)	p.V1011V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCTGCGTGTTCACGCACTTGC	0.642											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oej.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|lung(1)	3						c.(3031-3033)GTG>GTA		latent transforming growth factor beta binding							83.0	69.0	74.0					11																	65308030		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65308030C>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3033G>A	11.37:g.65308030C>T			OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_uc001oef.2_Silent_p.V14V|LTBP3_uc001oeg.2_Silent_p.V14V|LTBP3_uc001oeh.2_Silent_p.V441V|LTBP3_uc010roi.1_Silent_p.V894V|LTBP3_uc001oei.2_Silent_p.V1011V|LTBP3_uc010roj.1_Silent_p.V712V|LTBP3_uc010rok.1_Silent_p.V922V	p.V1011V	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			22	3302	-			1011			EGF-like 10; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.3033G>A	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468367	0.26335	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.13	2.14	0.27477	.	.	.	.	.	T	0.54615	0.1869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47446	-0.9117	4	.	.	.	.	6.7863	0.23675	0.0:0.6453:0.2335:0.1212	.	.	.	.	K	662	.	.	E	-	1	0	LTBP3	65064606	0.003000	0.15002	1.000000	0.80357	0.985000	0.73830	-0.376000	0.07465	0.720000	0.32209	0.455000	0.32223	GAA		PASS	0.642	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		21	118	21	118	---	---	---	---
SSH3	54961	broad.mit.edu	37	11	67074336	67074336	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:67074336C>T	ENST00000308127.4	+	4	545	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	SSH3_ENST00000376757.5_Missense_Mutation_p.P123S|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.P123S	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	123					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P123S(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACCCCGGCCTCCCCGGCTCCG	0.652																																						uc001okj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(367-369)CCC>TCC		slingshot homolog 3							20.0	22.0	22.0					11																	67074336		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67074336C>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.367C>T	11.37:g.67074336C>T	ENSP00000312081:p.Pro123Ser					SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_5'UTR	p.P123S	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		4	545	+			123					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.367C>T	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	c	7.289	0.610728	0.14066	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.28454	3.91;1.61;3.95	4.92	3.05	0.35203	.	0.797548	0.11339	N	0.574242	T	0.21267	0.0512	L	0.34521	1.04	0.09310	N	1	B	0.19200	0.034	B	0.24394	0.053	T	0.34675	-0.9819	10	0.10902	T	0.67	-11.8535	7.9882	0.30224	0.0:0.7535:0.16:0.0864	.	123	Q8TE77	SSH3_HUMAN	S	123	ENSP00000312081:P123S;ENSP00000310055:P123S;ENSP00000365948:P123S	ENSP00000312081:P123S	P	+	1	0	SSH3	66830912	0.002000	0.14202	0.266000	0.24541	0.995000	0.86356	0.999000	0.29757	0.671000	0.31185	0.651000	0.88453	CCC		PASS	0.652	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		8	40	8	40	---	---	---	---
CHKA	1119	broad.mit.edu	37	11	67832066	67832066	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:67832066G>C	ENST00000265689.4	-	10	1184	c.1158C>G	c.(1156-1158)ttC>ttG	p.F386L	CHKA_ENST00000533728.1_5'Flank|CHKA_ENST00000356135.5_Missense_Mutation_p.F368L	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	386					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)	p.F386L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	AGTCATTTTGGAATGCAGGCA	0.294																																						uc001onj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1156-1158)TTC>TTG		choline kinase alpha isoform a	Choline(DB00122)						75.0	75.0	75.0					11																	67832066		2200	4294	6494	SO:0001583	missense	1119				lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity	g.chr11:67832066G>C	D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.1158C>G	11.37:g.67832066G>C	ENSP00000265689:p.Phe386Leu					CHKA_uc001onk.2_Missense_Mutation_p.F368L	p.F386L	NM_001277	NP_001268	P35790	CHKA_HUMAN			10	1372	-			386					Q8NE29	Missense_Mutation	SNP	ENST00000265689.4	37	c.1158C>G	CCDS8178.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730934	0.30684	.	.	ENSG00000110721	ENST00000265689;ENST00000356135	T;T	0.64085	-0.08;-0.08	5.67	4.71	0.59529	Protein kinase-like domain (1);	0.162599	0.56097	D	0.000025	T	0.46464	0.1394	L	0.33137	0.985	0.50313	D	0.999865	B;B	0.18610	0.019;0.029	B;B	0.20184	0.01;0.028	T	0.31308	-0.9948	10	0.10902	T	0.67	-11.0264	10.4691	0.44626	0.0724:0.1357:0.7919:0.0	.	368;386	P35790-2;P35790	.;CHKA_HUMAN	L	386;368	ENSP00000265689:F386L;ENSP00000348454:F368L	ENSP00000265689:F386L	F	-	3	2	CHKA	67588642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.861000	0.39438	2.668000	0.90789	0.655000	0.94253	TTC		PASS	0.294	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1	NM_001277		3	106	3	106	---	---	---	---
SUV420H1	51111	broad.mit.edu	37	11	67934503	67934503	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:67934503G>C	ENST00000304363.4	-	10	1473	c.1120C>G	c.(1120-1122)Caa>Gaa	p.Q374E	SUV420H1_ENST00000401547.2_Missense_Mutation_p.Q374E|SUV420H1_ENST00000405515.1_Missense_Mutation_p.Q374E|SUV420H1_ENST00000402789.1_Missense_Mutation_p.Q374E|SUV420H1_ENST00000402185.2_Missense_Mutation_p.Q351E	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	374					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.Q374E(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTGACAGATTGACTGTCTGAA	0.353																																						uc001onm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(1120-1122)CAA>GAA		suppressor of variegation 4-20 homolog 1 isoform							157.0	146.0	150.0					11																	67934503		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67934503G>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1120C>G	11.37:g.67934503G>C	ENSP00000305899:p.Gln374Glu					SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.Q202E|SUV420H1_uc009ysf.2_Missense_Mutation_p.Q134E|SUV420H1_uc001ono.1_Missense_Mutation_p.Q374E|SUV420H1_uc001onp.2_Missense_Mutation_p.Q374E|SUV420H1_uc010rqa.1_Missense_Mutation_p.Q351E|SUV420H1_uc001onq.2_Missense_Mutation_p.Q374E	p.Q374E	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			10	1376	-			374					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1120C>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712793	0.48517	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	T;T;T;T;T	0.44083	0.93;0.97;0.97;0.93;0.98	5.78	5.78	0.91487	.	0.174946	0.51477	D	0.000091	T	0.53997	0.1831	L	0.32530	0.975	0.53005	D	0.999969	B;B;B;D	0.54964	0.118;0.118;0.091;0.969	B;B;B;D	0.64877	0.026;0.054;0.036;0.93	T	0.40365	-0.9567	10	0.30078	T	0.28	-20.2403	20.0204	0.97499	0.0:0.0:1.0:0.0	.	351;374;374;374	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	E	374;374;374;374;351	ENSP00000305899:Q374E;ENSP00000385965:Q374E;ENSP00000385640:Q374E;ENSP00000385005:Q374E;ENSP00000384724:Q351E	ENSP00000305899:Q374E	Q	-	1	0	SUV420H1	67691079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.527000	0.81931	2.729000	0.93468	0.650000	0.86243	CAA		PASS	0.353	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		13	135	13	135	---	---	---	---
SUV420H1	51111	broad.mit.edu	37	11	67953375	67953375	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:67953375C>G	ENST00000304363.4	-	3	534	c.181G>C	c.(181-183)Gaa>Caa	p.E61Q	SUV420H1_ENST00000401547.2_Missense_Mutation_p.E61Q|SUV420H1_ENST00000405515.1_Missense_Mutation_p.E61Q|SUV420H1_ENST00000402789.1_Missense_Mutation_p.E61Q|SUV420H1_ENST00000402185.2_Missense_Mutation_p.E61Q	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	61					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.E61Q(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTCTGTCCTTCAAATCCCGAG	0.408																																						uc001onm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(181-183)GAA>CAA		suppressor of variegation 4-20 homolog 1 isoform							114.0	109.0	111.0					11																	67953375		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67953375C>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.181G>C	11.37:g.67953375C>G	ENSP00000305899:p.Glu61Gln					SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.E61Q|SUV420H1_uc001onp.2_Missense_Mutation_p.E61Q|SUV420H1_uc010rqa.1_Missense_Mutation_p.E61Q|SUV420H1_uc001onq.2_Missense_Mutation_p.E61Q	p.E61Q	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			3	437	-			61					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.181G>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294980	0.95574	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000434573	T;T;T;T;T;T	0.51817	0.93;0.93;0.93;0.93;0.69;0.93	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	0.985;0.995;0.994;1.0	P;D;D;D	0.69307	0.677;0.946;0.91;0.963	T	0.59778	-0.7390	10	0.52906	T	0.07	-42.8748	20.8794	0.99867	0.0:1.0:0.0:0.0	.	61;61;61;61	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	Q	61	ENSP00000305899:E61Q;ENSP00000385965:E61Q;ENSP00000385640:E61Q;ENSP00000385005:E61Q;ENSP00000384724:E61Q;ENSP00000402921:E61Q	ENSP00000305899:E61Q	E	-	1	0	SUV420H1	67709951	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.629000	0.83207	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.408	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		25	130	25	130	---	---	---	---
TPCN2	219931	broad.mit.edu	37	11	68855388	68855388	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:68855388G>A	ENST00000294309.3	+	25	2327	c.2226G>A	c.(2224-2226)ctG>ctA	p.L742L	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.L560L	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	742					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.L742L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGAGAGGCTGAGCCAGCACC	0.642																																						uc001oos.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2224-2226)CTG>CTA		two pore segment channel 2							25.0	31.0	29.0					11																	68855388		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68855388G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2226G>A	11.37:g.68855388G>A						TPCN2_uc010rqg.1_Silent_p.L560L|TPCN2_uc001oot.2_RNA	p.L742L	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		25	2342	+			742			Cytoplasmic (Potential).		Q9NT82	Silent	SNP	ENST00000294309.3	37	c.2226G>A	CCDS8189.1																																																																																				PASS	0.642	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		4	19	4	19	---	---	---	---
FADD	8772	broad.mit.edu	37	11	70049751	70049751	+	Silent	SNP	C	C	T	rs572559406	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:70049751C>T	ENST00000301838.4	+	1	483	c.186C>T	c.(184-186)ctC>ctT	p.L62L	RP11-805J14.5_ENST00000526174.1_RNA|RP11-805J14.5_ENST00000527232.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	62	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.L62L(1)		endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACACCGAGCTCCTGCGCGAGC	0.736																																						uc001opm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(184-186)CTC>CTT		Fas-associated via death domain							18.0	23.0	22.0					11																	70049751		2147	4227	6374	SO:0001819	synonymous_variant	8772				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	g.chr11:70049751C>T	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"""Fas-associating protein with death domain"", ""Fas-associating death domain-containing protein"", ""mediator of receptor-induced toxicity"", ""growth-inhibiting gene 3 protein"""	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.186C>T	11.37:g.70049751C>T							p.L62L	NM_003824	NP_003815	Q13158	FADD_HUMAN	LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		1	483	+	Esophageal squamous(2;1.19e-45)		62			DED.		Q14866|Q6IBR4	Silent	SNP	ENST00000301838.4	37	c.186C>T	CCDS8196.1																																																																																				PASS	0.736	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1	NM_003824		14	48	14	48	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70333442	70333442	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:70333442C>G	ENST00000423696.2	-	15	1855	c.1819G>C	c.(1819-1821)Gaa>Caa	p.E607Q	SHANK2_ENST00000449833.2_Missense_Mutation_p.E391Q|SHANK2_ENST00000338508.4_Missense_Mutation_p.E987Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.E390Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	607					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.E391Q(1)|p.E987Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TATGGGTTTTCTGGCATCTGG	0.602																																						uc001oqc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2956-2958)GAA>CAA		SH3 and multiple ankyrin repeat domains 2							136.0	142.0	140.0					11																	70333442		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333442C>G	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1819G>C	11.37:g.70333442C>G	ENSP00000394536:p.Glu607Gln					SHANK2_uc010rqn.1_Missense_Mutation_p.E398Q|SHANK2_uc001opz.2_Missense_Mutation_p.E391Q|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.E986Q	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3034	-			607					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.2956G>C		.	.	.	.	.	.	.	.	.	.	C	19.68	3.872842	0.72180	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.49720	2.09;2.09;2.78;0.77;2.21;2.21	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.978;0.999;0.99	T	0.73525	-0.3955	10	0.52906	T	0.07	.	18.305	0.90177	0.0:1.0:0.0:0.0	.	607;986;391	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Q	391;390;265;987;607;625;610	ENSP00000399423:E391Q;ENSP00000386491:E390Q;ENSP00000402944:E265Q;ENSP00000345193:E987Q;ENSP00000394536:E607Q;ENSP00000294018:E610Q	ENSP00000294018:E610Q	E	-	1	0	SHANK2	70011090	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	7.268000	0.78473	2.341000	0.79615	0.655000	0.94253	GAA		PASS	0.602	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		28	253	28	253	---	---	---	---
NADSYN1	55191	broad.mit.edu	37	11	71175151	71175151	+	Missense_Mutation	SNP	C	C	T	rs540999843		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:71175151C>T	ENST00000319023.2	+	5	558	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	124	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.R124C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	AGGCAACTACCGCGAGCTGCG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18457	0.0		0.001	False		,,,				2504	0.0				Ovarian(79;763 1781 6490 50276)	uc001oqn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(370-372)CGC>TGC		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						85.0	66.0	73.0					11																	71175151		2200	4293	6493	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71175151C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.370C>T	11.37:g.71175151C>T	ENSP00000326424:p.Arg124Cys					NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	p.R124C	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			5	496	+			124			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.370C>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254775	0.39896	.	.	ENSG00000172890	ENST00000319023	D	0.91792	-2.91	5.24	2.1	0.27182	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.197604	0.40908	D	0.000999	D	0.96747	0.8938	H	0.95611	3.695	0.58432	D	0.999997	D	0.65815	0.995	D	0.73380	0.98	D	0.96637	0.9471	10	0.72032	D	0.01	-15.0111	12.1915	0.54275	0.4392:0.5608:0.0:0.0	.	124	Q6IA69	NADE_HUMAN	C	124	ENSP00000326424:R124C	ENSP00000326424:R124C	R	+	1	0	NADSYN1	70852799	0.975000	0.34042	0.472000	0.27241	0.025000	0.11179	0.648000	0.24828	0.564000	0.29238	0.655000	0.94253	CGC		PASS	0.607	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		11	24	11	24	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71724238	71724238	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:71724238C>T	ENST00000393695.3	-	15	4642	c.4311G>A	c.(4309-4311)ctG>ctA	p.L1437L	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.L1437L	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.L1437L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGCATGCTCAGCTGCTCTG	0.637			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(4309-4311)CTG>CTA		nuclear mitotic apparatus protein 1							65.0	68.0	67.0					11																	71724238		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724238C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4311G>A	11.37:g.71724238C>T						NUMA1_uc009ysw.1_Silent_p.L1000L|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.L1437L|NUMA1_uc001orn.2_Silent_p.L1000L|NUMA1_uc009ysx.1_Silent_p.L1437L|NUMA1_uc001oro.1_Silent_p.L1437L	p.L1437L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	4483	-			1437			Potential.			Silent	SNP	ENST00000393695.3	37	c.4311G>A	CCDS31633.1																																																																																				PASS	0.637	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			26	142	26	142	---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71940529	71940529	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:71940529C>G	ENST00000298229.2	+	6	884	c.680C>G	c.(679-681)tCa>tGa	p.S227*	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	227					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.S227*(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAGGTCCTGTCAGGCCTGGAG	0.572																																						uc001osf.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(679-681)TCA>TGA		inositol polyphosphate phosphatase-like 1							118.0	119.0	118.0					11																	71940529		2200	4293	6493	SO:0001587	stop_gained	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71940529C>G	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.680C>G	11.37:g.71940529C>G	ENSP00000298229:p.Ser227*					INPPL1_uc001osg.2_5'UTR	p.S227*	NM_001567	NP_001558	O15357	SHIP2_HUMAN			6	827	+			227					B2RTX5|Q13577|Q13578	Nonsense_Mutation	SNP	ENST00000298229.2	37	c.680C>G	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	37	6.436634	0.97564	.	.	ENSG00000165458	ENST00000298229	.	.	.	5.55	5.55	0.83447	.	0.356515	0.26116	N	0.026251	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.2378	0.82389	0.0:1.0:0.0:0.0	.	.	.	.	X	227	.	ENSP00000298229:S227X	S	+	2	0	INPPL1	71618177	0.997000	0.39634	0.847000	0.33407	0.949000	0.60115	3.703000	0.54808	2.603000	0.88011	0.650000	0.86243	TCA		PASS	0.572	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		28	166	28	166	---	---	---	---
COA4	51287	broad.mit.edu	37	11	73584241	73584241	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:73584241G>C	ENST00000355693.4	-	2	430	c.183C>G	c.(181-183)ttC>ttG	p.F61L	COA4_ENST00000537581.1_5'Flank|COA4_ENST00000541455.1_Missense_Mutation_p.F70L|COA4_ENST00000545127.1_Missense_Mutation_p.F61L|COA4_ENST00000537289.1_Missense_Mutation_p.F61L	NM_016565.2	NP_057649.2	Q9NYJ1	COA4_HUMAN	cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)	61	CHCH.					mitochondrion (GO:0005739)		p.F61L(1)									TGCAATCCTTGAACGCCTGCA	0.617																																						uc001ouj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)TTC>TTG		coiled-coil-helix-coiled-coil-helix domain							86.0	70.0	75.0					11																	73584241		2200	4293	6493	SO:0001583	missense	51287							g.chr11:73584241G>C	AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Mitochondrial respiratory chain complex assembly factors"""	24604	protein-coding gene	gene with protein product		608016	"""coiled-coil-helix-coiled-coil-helix domain containing 8"""	CHCHD8		11085516, 20624914	Standard	NM_016565		Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000355693.4:c.183C>G	11.37:g.73584241G>C	ENSP00000347919:p.Phe61Leu					CHCHD8_uc009ytw.2_RNA	p.F61L	NM_016565	NP_057649	Q9NYJ1	CHCH8_HUMAN			2	288	-	Breast(11;7.42e-05)		61			CHCH.		B2RAA0|Q69YU4	Missense_Mutation	SNP	ENST00000355693.4	37	c.183C>G	CCDS8225.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807093	0.70797	.	.	ENSG00000181924	ENST00000355693;ENST00000545127;ENST00000541455;ENST00000537289	T;T;T	0.79352	-1.26;-1.26;-1.26	5.93	3.05	0.35203	CHCH (1);	0.000000	0.85682	D	0.000000	T	0.82010	0.4944	.	.	.	0.36162	D	0.848198	D	0.56746	0.977	P	0.57283	0.817	D	0.84263	0.0484	9	0.52906	T	0.07	-4.5209	8.488	0.33082	0.3047:0.0:0.6953:0.0	.	61	Q9NYJ1	CHCH8_HUMAN	L	61;61;70;61	ENSP00000347919:F61L;ENSP00000443795:F61L;ENSP00000437772:F61L	ENSP00000347919:F61L	F	-	3	2	CHCHD8	73261889	1.000000	0.71417	0.701000	0.30321	0.818000	0.46254	2.207000	0.42788	0.864000	0.35578	0.655000	0.94253	TTC		PASS	0.617	COA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397878.1	NM_016565		14	80	14	80	---	---	---	---
SLCO2B1	11309	broad.mit.edu	37	11	74862428	74862428	+	Start_Codon_SNP	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:74862428T>C	ENST00000289575.5	+	1	397	c.2T>C	c.(1-3)aTg>aCg	p.M1T	SLCO2B1_ENST00000525650.1_Start_Codon_SNP_p.M1T|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000531756.1_Start_Codon_SNP_p.M1T	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	1					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.M1T(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCAGCAGTCATGGGACCCAGG	0.552																																						uc001owb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1-3)ATG>ACG		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						48.0	43.0	44.0					11																	74862428		2200	4293	6493	SO:0001582	initiator_codon_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74862428T>C	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.2T>C	11.37:g.74862428T>C	ENSP00000289575:p.Met1Thr					SLCO2B1_uc010rrp.1_Intron|SLCO2B1_uc010rrq.1_Missense_Mutation_p.M1T|SLCO2B1_uc010rrr.1_Missense_Mutation_p.M1T|SLCO2B1_uc010rrs.1_5'UTR|SLCO2B1_uc001owc.2_5'UTR	p.M1T	NM_007256	NP_009187	O94956	SO2B1_HUMAN			1	389	+			1			Cytoplasmic (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.2T>C	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	T	6.487	0.457959	0.12342	.	.	ENSG00000137491	ENST00000289575;ENST00000531756;ENST00000525650	T;T;T	0.39592	1.23;1.17;1.07	3.75	3.75	0.43078	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.80722	D	1	B;P;B	0.39480	0.118;0.675;0.118	B;B;B	0.26864	0.05;0.074;0.05	T	0.21042	-1.0257	8	0.72032	D	0.01	.	9.1497	0.36955	0.0:0.0:0.0:1.0	.	1;1;1	E9PPU8;E9PPJ4;O94956	.;.;SO2B1_HUMAN	T	1	ENSP00000289575:M1T;ENSP00000432650:M1T;ENSP00000436324:M1T	ENSP00000289575:M1T	M	+	2	0	SLCO2B1	74540076	1.000000	0.71417	0.996000	0.52242	0.135000	0.20990	3.093000	0.50217	1.948000	0.56530	0.533000	0.62120	ATG		PASS	0.552	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	Missense_Mutation	8	27	8	27	---	---	---	---
DDIAS	220042	broad.mit.edu	37	11	82642927	82642927	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:82642927C>G	ENST00000533655.1	+	6	759	c.547C>G	c.(547-549)Caa>Gaa	p.Q183E	C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.Q183E	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		183					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q183E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CTACTTCCATCAACTTTTGCA	0.418																																						uc001ozt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(547-549)CAA>GAA		nitric oxide-inducible gene protein							177.0	179.0	178.0					11																	82642927		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82642927C>G																												ENST00000533655.1:c.547C>G	11.37:g.82642927C>G	ENSP00000435421:p.Gln183Glu					C11orf82_uc010rsr.1_Translation_Start_Site|C11orf82_uc010rss.1_Translation_Start_Site|C11orf82_uc009yvd.2_Intron	p.Q183E	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	791	+			183					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.547C>G	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880442	0.17467	.	.	ENSG00000165490	ENST00000430323;ENST00000533655	T;T	0.14766	2.48;2.48	5.45	5.45	0.79879	.	0.357786	0.25127	N	0.032927	T	0.16685	0.0401	L	0.56769	1.78	0.80722	D	1	P	0.43094	0.799	B	0.35931	0.214	T	0.03148	-1.1067	9	.	.	.	.	19.289	0.94090	0.0:1.0:0.0:0.0	.	183	Q8IXT1	NOXIN_HUMAN	E	183	ENSP00000414687:Q183E;ENSP00000435421:Q183E	.	Q	+	1	0	C11orf82	82320575	0.908000	0.30866	0.511000	0.27724	0.134000	0.20937	3.767000	0.55288	2.567000	0.86603	0.563000	0.77884	CAA		PASS	0.418	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			42	299	42	299	---	---	---	---
DDIAS	220042	broad.mit.edu	37	11	82643305	82643305	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:82643305G>C	ENST00000533655.1	+	6	1137	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q	C11orf82_ENST00000329143.3_Missense_Mutation_p.E8Q|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.E309Q	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		309					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E309Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GAGTACAGCAGAAAAGTTGGG	0.418																																						uc001ozt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(925-927)GAA>CAA		nitric oxide-inducible gene protein							78.0	79.0	79.0					11																	82643305		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643305G>C																												ENST00000533655.1:c.925G>C	11.37:g.82643305G>C	ENSP00000435421:p.Glu309Gln					C11orf82_uc010rsr.1_Missense_Mutation_p.E8Q|C11orf82_uc010rss.1_Missense_Mutation_p.E8Q|C11orf82_uc009yvd.2_Intron	p.E309Q	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	1169	+			309					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.925G>C	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	7.570	0.666494	0.14710	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.17213	2.54;2.54;2.29	5.79	4.89	0.63831	.	0.471774	0.21486	N	0.073760	T	0.05777	0.0151	N	0.01576	-0.805	0.09310	N	1	B	0.17852	0.024	B	0.12837	0.008	T	0.36962	-0.9726	9	.	.	.	.	9.1636	0.37038	0.0873:0.2049:0.7078:0.0	.	309	Q8IXT1	NOXIN_HUMAN	Q	309;309;8	ENSP00000414687:E309Q;ENSP00000435421:E309Q;ENSP00000329930:E8Q	.	E	+	1	0	C11orf82	82320953	0.918000	0.31147	0.840000	0.33206	0.866000	0.49608	0.666000	0.25097	1.474000	0.48178	0.557000	0.71058	GAA		PASS	0.418	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			28	142	28	142	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83170885	83170885	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:83170885C>A	ENST00000532653.1	-	23	2837	c.2535G>T	c.(2533-2535)tgG>tgT	p.W845C	DLG2_ENST00000376106.3_Missense_Mutation_p.W327C|DLG2_ENST00000537455.1_Missense_Mutation_p.W613C|DLG2_ENST00000330014.6_Missense_Mutation_p.W784C|DLG2_ENST00000418306.2_Missense_Mutation_p.W742C|DLG2_ENST00000404783.3_Missense_Mutation_p.W341C|DLG2_ENST00000376104.2_Missense_Mutation_p.W968C|DLG2_ENST00000398309.2_Missense_Mutation_p.W863C|DLG2_ENST00000280241.8_Missense_Mutation_p.W902C|DLG2_ENST00000426717.2_Missense_Mutation_p.W327C|DLG2_ENST00000543673.1_Missense_Mutation_p.W968C|DLG2_ENST00000524982.1_Missense_Mutation_p.W859C			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	569					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.W902C(1)|p.W968C(1)|p.W863C(1)|p.W742C(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTGAGGGAATCCAGATGAAAG	0.363																																						uc001paj.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(2587-2589)TGG>TGT		chapsyn-110 isoform 2							94.0	89.0	90.0					11																	83170885		1829	4081	5910	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83170885C>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2535G>T	11.37:g.83170885C>A	ENSP00000435849:p.Trp845Cys					DLG2_uc001pai.2_Missense_Mutation_p.W742C|DLG2_uc010rsy.1_Missense_Mutation_p.W812C|DLG2_uc010rsz.1_Missense_Mutation_p.W859C|DLG2_uc010rta.1_Missense_Mutation_p.W845C|DLG2_uc001pak.2_Missense_Mutation_p.W968C|DLG2_uc010rsw.1_Missense_Mutation_p.W327C|DLG2_uc010rsx.1_Missense_Mutation_p.W340C	p.W863C	NM_001364	NP_001355	Q15700	DLG2_HUMAN			23	2892	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	863					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.2589G>T		.	.	.	.	.	.	.	.	.	.	C	16.89	3.248685	0.59103	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021	T;T;T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000008	T	0.59582	0.2204	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;1.0;0.999;1.0;1.0	T	0.62950	-0.6745	9	.	.	.	.	19.9651	0.97262	0.0:1.0:0.0:0.0	.	845;859;784;341;968;863;742	B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;DLG2_HUMAN;.	C	863;327;968;742;968;902;341;784;613;327;859;845;968	ENSP00000381355:W863C;ENSP00000393049:W327C;ENSP00000365272:W968C;ENSP00000402275:W742C;ENSP00000441994:W968C;ENSP00000280241:W902C;ENSP00000385113:W341C;ENSP00000381353:W784C;ENSP00000443248:W613C;ENSP00000365274:W327C;ENSP00000432894:W859C;ENSP00000435849:W845C	.	W	-	3	0	DLG2	82848533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.793000	0.96121	0.655000	0.94253	TGG		PASS	0.363	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		24	85	24	85	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83641521	83641521	+	Missense_Mutation	SNP	G	G	A	rs185568966	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:83641521G>A	ENST00000532653.1	-	10	1333	c.1031C>T	c.(1030-1032)cCg>cTg	p.P344L	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.P98L|DLG2_ENST00000330014.6_Missense_Mutation_p.P283L|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.P383L|DLG2_ENST00000376104.2_Missense_Mutation_p.P449L|DLG2_ENST00000398309.2_Missense_Mutation_p.P344L|DLG2_ENST00000280241.8_Missense_Mutation_p.P383L|DLG2_ENST00000531015.1_Missense_Mutation_p.P311L|DLG2_ENST00000543673.1_Missense_Mutation_p.P449L|DLG2_ENST00000524982.1_Missense_Mutation_p.P344L			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.P383L(1)|p.P344L(1)|p.P449L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AACAGGTTCCGGAGGCCTGGT	0.458													G|||	3	0.000599042	0.0008	0.0	5008	,	,		20769	0.0		0.002	False		,,,				2504	0.0					uc001paj.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|skin(1)	6						c.(1030-1032)CCG>CTG		chapsyn-110 isoform 2		G	LEU/PRO,,LEU/PRO,LEU/PRO	1,3885		0,1,1942	118.0	119.0	119.0		1346,,1148,1031	5.7	1.0	11		119	11,8311		0,11,4150	yes	missense,intron,missense,missense	DLG2	NM_001142699.1,NM_001142700.1,NM_001206769.1,NM_001364.3	98,,98,98	0,12,6092	AA,AG,GG		0.1322,0.0257,0.0983	possibly-damaging,,possibly-damaging,possibly-damaging	449/976,,383/910,344/871	83641521	12,12196	1943	4161	6104	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83641521G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1031C>T	11.37:g.83641521G>A	ENSP00000435849:p.Pro344Leu					DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.P311L|DLG2_uc010rsz.1_Missense_Mutation_p.P344L|DLG2_uc010rta.1_Missense_Mutation_p.P344L|DLG2_uc001pak.2_Missense_Mutation_p.P449L|DLG2_uc010rtb.1_Missense_Mutation_p.P311L|DLG2_uc001pal.1_Missense_Mutation_p.P344L|DLG2_uc001pam.1_Missense_Mutation_p.P383L	p.P344L	NM_001364	NP_001355	Q15700	DLG2_HUMAN			10	1334	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	344					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1031C>T		3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	G	28.1	4.890871	0.91889	2.57E-4	0.001322	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T	0.26067	2.5;2.5;2.5;2.33;2.44;1.82;2.51;2.47;2.32;1.76	5.72	5.72	0.89469	PDZ-associated domain of NMDA receptors (1);	0.000000	0.64402	D	0.000006	T	0.53158	0.1779	M	0.71206	2.165	0.80722	D	1	D;D;D;D;B;D;D	0.89917	1.0;1.0;1.0;1.0;0.279;1.0;1.0	D;D;D;D;B;D;D	0.85130	0.997;0.997;0.997;0.997;0.022;0.995;0.997	T	0.46303	-0.9201	9	.	.	.	.	19.8751	0.96867	0.0:0.0:1.0:0.0	.	311;344;344;283;383;449;344	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700	.;.;.;.;.;.;DLG2_HUMAN	L	344;449;449;383;283;98;344;344;449;311;383	ENSP00000381355:P344L;ENSP00000365272:P449L;ENSP00000441994:P449L;ENSP00000280241:P383L;ENSP00000381353:P283L;ENSP00000443248:P98L;ENSP00000432894:P344L;ENSP00000435849:P344L;ENSP00000433848:P311L;ENSP00000381346:P383L	.	P	-	2	0	DLG2	83319169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.291000	0.96070	2.695000	0.91970	0.655000	0.94253	CCG		PASS	0.458	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		17	124	17	124	---	---	---	---
TYR	7299	broad.mit.edu	37	11	88911272	88911272	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:88911272G>A	ENST00000263321.5	+	1	653	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	51					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G51S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCAGCTTTCAGGCAGAGGTTC	0.562																																						uc001pcs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3	GRCh37	HM070075	TYR	M		c.(151-153)GGC>AGC		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						61.0	52.0	55.0					11																	88911272		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911272G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.151G>A	11.37:g.88911272G>A	ENSP00000263321:p.Gly51Ser						p.G51S	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	233	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	51			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.151G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364750	0.61513	.	.	ENSG00000077498	ENST00000263321	D	0.99454	-5.92	6.07	6.07	0.98685	.	0.095612	0.64402	D	0.000001	D	0.98887	0.9623	M	0.90870	3.155	0.53688	D	0.99997	P	0.35307	0.494	B	0.27608	0.081	D	0.98012	1.0366	9	.	.	.	.	14.2203	0.65823	0.0761:0.0:0.9239:0.0	.	51	P14679	TYRO_HUMAN	S	51	ENSP00000263321:G51S	.	G	+	1	0	TYR	88550920	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.945000	0.70226	2.885000	0.99019	0.655000	0.94253	GGC		PASS	0.562	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		7	70	7	70	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89073286	89073286	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:89073286C>T	ENST00000263317.4	-	15	1629	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	NOX4_ENST00000531342.1_Missense_Mutation_p.R117K|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000528341.1_Missense_Mutation_p.R439K|NOX4_ENST00000532825.1_Missense_Mutation_p.R400K|NOX4_ENST00000375979.3_Missense_Mutation_p.R157K|NOX4_ENST00000534731.1_Missense_Mutation_p.R424K|NOX4_ENST00000527956.1_Missense_Mutation_p.R440K|NOX4_ENST00000413594.2_Missense_Mutation_p.R485K|NOX4_ENST00000542487.1_Missense_Mutation_p.R440K|NOX4_ENST00000343727.5_Missense_Mutation_p.R440K|NOX4_ENST00000424319.1_Missense_Mutation_p.R440K|NOX4_ENST00000535633.1_Missense_Mutation_p.R440K|NOX4_ENST00000525196.1_Missense_Mutation_p.R228K			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	464	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.R464K(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTGGATATCTCTGCATACCCA	0.338																																						uc001pct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1390-1392)AGA>AAA		NADPH oxidase 4 isoform a							135.0	132.0	133.0					11																	89073286		2201	4299	6500	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89073286C>T	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1391G>A	11.37:g.89073286C>T	ENSP00000263317:p.Arg464Lys					NOX4_uc009yvr.2_Missense_Mutation_p.R439K|NOX4_uc001pcu.2_Missense_Mutation_p.R390K|NOX4_uc001pcw.2_Missense_Mutation_p.R157K|NOX4_uc001pcx.2_Missense_Mutation_p.R117K|NOX4_uc001pcv.2_Missense_Mutation_p.R424K|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.R228K|NOX4_uc010rtv.1_Missense_Mutation_p.R400K|NOX4_uc009yvq.2_Missense_Mutation_p.R440K	p.R464K	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			15	1630	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	464			Cytoplasmic (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1391G>A	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092675	0.76756	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.34	5.34	0.76211	Ferric reductase, NAD binding (1);	0.044796	0.85682	D	0.000000	D	0.96062	0.8717	L	0.31926	0.97	0.53688	D	0.999973	P;B;P;D;P;P;B	0.56287	0.554;0.092;0.509;0.975;0.804;0.929;0.283	P;B;P;P;P;P;B	0.58130	0.498;0.045;0.474;0.833;0.47;0.631;0.268	D	0.95292	0.8396	9	.	.	.	-12.0544	18.6274	0.91346	0.0:1.0:0.0:0.0	.	400;439;228;117;157;424;464	E9PMY6;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	K	440;440;440;424;228;464;400;440;440;439;485;117;157	ENSP00000412446:R440K;ENSP00000440172:R440K;ENSP00000344747:R440K;ENSP00000436892:R424K;ENSP00000436716:R228K;ENSP00000263317:R464K;ENSP00000434924:R400K;ENSP00000433797:R440K;ENSP00000439373:R440K;ENSP00000436970:R439K;ENSP00000405705:R485K;ENSP00000435039:R117K;ENSP00000365146:R157K	.	R	-	2	0	NOX4	88712934	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.585000	0.67497	2.500000	0.84329	0.460000	0.39030	AGA		PASS	0.338	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		29	185	29	185	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89135642	89135642	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:89135642C>G	ENST00000263317.4	-	9	936	c.698G>C	c.(697-699)aGc>aCc	p.S233T	NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.S67T|NOX4_ENST00000528341.1_Missense_Mutation_p.S208T|NOX4_ENST00000532825.1_Missense_Mutation_p.S209T|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.S233T|NOX4_ENST00000527956.1_Missense_Mutation_p.S209T|NOX4_ENST00000413594.2_Missense_Mutation_p.S254T|NOX4_ENST00000542487.1_Missense_Mutation_p.S209T|NOX4_ENST00000343727.5_Missense_Mutation_p.S209T|NOX4_ENST00000424319.1_Missense_Mutation_p.S209T|NOX4_ENST00000535633.1_Missense_Mutation_p.S209T|NOX4_ENST00000525196.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	233	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.S233T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATTCTGAGAGCTGGTTCGGTT	0.393																																						uc001pct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(697-699)AGC>ACC		NADPH oxidase 4 isoform a							97.0	109.0	105.0					11																	89135642		2200	4298	6498	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89135642C>G	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.698G>C	11.37:g.89135642C>G	ENSP00000263317:p.Ser233Thr					NOX4_uc009yvr.2_Missense_Mutation_p.S208T|NOX4_uc001pcu.2_Missense_Mutation_p.S159T|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.S233T|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Missense_Mutation_p.S67T|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.S209T|NOX4_uc009yvq.2_Missense_Mutation_p.S209T|NOX4_uc009yvs.1_RNA	p.S233T	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			9	937	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	233			Extracellular (Potential).|Ferric oxidoreductase.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.698G>C	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	3.147	-0.175048	0.06421	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.95205	-3.57;-3.57;-3.57;-3.55;-3.5;-3.64;-3.57;-3.57;-3.3;-3.54;-3.61	4.76	-7.73	0.01245	.	1.472120	0.04003	N	0.296871	D	0.84028	0.5382	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.001	B;B;B;B;B	0.12156	0.002;0.003;0.005;0.007;0.002	T	0.75494	-0.3298	9	.	.	.	2.2396	4.2217	0.10561	0.1052:0.1141:0.2474:0.5333	.	209;67;208;233;233	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	T	209;209;209;233;233;209;209;209;67;208;254	ENSP00000412446:S209T;ENSP00000440172:S209T;ENSP00000344747:S209T;ENSP00000436892:S233T;ENSP00000263317:S233T;ENSP00000434924:S209T;ENSP00000433797:S209T;ENSP00000439373:S209T;ENSP00000436093:S67T;ENSP00000436970:S208T;ENSP00000405705:S254T	.	S	-	2	0	NOX4	88775290	0.000000	0.05858	0.000000	0.03702	0.925000	0.55904	-2.375000	0.01071	-1.544000	0.01721	0.467000	0.42956	AGC		PASS	0.393	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		39	257	39	257	---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89882195	89882195	+	Missense_Mutation	SNP	G	G	C	rs375408506		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:89882195G>C	ENST00000534061.1	+	4	633	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	NAALAD2_ENST00000321955.4_Missense_Mutation_p.E135Q|NAALAD2_ENST00000375944.3_Missense_Mutation_p.E135Q|NAALAD2_ENST00000525171.1_Missense_Mutation_p.E135Q	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	135					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.E135Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATCATACCTTGAACCACCACC	0.318																																						uc001pdf.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(403-405)GAA>CAA		N-acetylated alpha-linked acidic dipeptidase 2							93.0	95.0	95.0					11																	89882195		2201	4296	6497	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89882195G>C	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.403G>C	11.37:g.89882195G>C	ENSP00000432481:p.Glu135Gln					NAALAD2_uc009yvx.2_Missense_Mutation_p.E135Q|NAALAD2_uc009yvy.2_Missense_Mutation_p.E135Q|NAALAD2_uc001pdd.2_Missense_Mutation_p.E135Q|NAALAD2_uc001pde.2_Missense_Mutation_p.E135Q	p.E135Q	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			4	512	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	135			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.403G>C	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589758	0.46214	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.37	5.37	0.77165	.	0.072851	0.56097	D	0.000033	T	0.70482	0.3229	M	0.77712	2.385	0.80722	D	1	P;P;D;D;D	0.89917	0.93;0.696;0.985;0.98;1.0	B;B;P;B;D	0.74674	0.337;0.24;0.544;0.413;0.984	T	0.71361	-0.4616	9	.	.	.	-20.1866	19.1945	0.93681	0.0:0.0:1.0:0.0	.	135;135;135;135;135	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	Q	135;135;135;135;81	ENSP00000432481:E135Q;ENSP00000320083:E135Q;ENSP00000435249:E135Q;ENSP00000365111:E135Q;ENSP00000435670:E81Q	.	E	+	1	0	NAALAD2	89521843	1.000000	0.71417	0.111000	0.21465	0.013000	0.08279	8.574000	0.90763	2.525000	0.85131	0.552000	0.68991	GAA		PASS	0.318	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		29	275	29	275	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101834523	101834523	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:101834523G>A	ENST00000263468.8	+	6	3027	c.2757G>A	c.(2755-2757)ccG>ccA	p.P919P	KIAA1377_ENST00000537689.1_Silent_p.P720P	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	919								p.P919P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAGTTATCCGTCTGTGACTC	0.403																																						uc001pgm.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(2755-2757)CCG>CCA		hypothetical protein LOC57562							87.0	93.0	91.0					11																	101834523		2203	4299	6502	SO:0001819	synonymous_variant	57562						protein binding	g.chr11:101834523G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2757G>A	11.37:g.101834523G>A						KIAA1377_uc001pgn.2_Silent_p.P875P|KIAA1377_uc010run.1_Silent_p.P720P|KIAA1377_uc009yxa.1_Silent_p.P720P	p.P919P	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	3027	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	919					Q4G0U6	Silent	SNP	ENST00000263468.8	37	c.2757G>A	CCDS31658.1																																																																																				PASS	0.403	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		38	253	38	253	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105797515	105797515	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:105797515C>T	ENST00000530497.1	+	12	1896	c.1896C>T	c.(1894-1896)ctC>ctT	p.L632L	GRIA4_ENST00000525187.1_Silent_p.L632L|GRIA4_ENST00000282499.5_Silent_p.L632L|GRIA4_ENST00000393127.2_Silent_p.L632L			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	632					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.L632L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TCTTTACACTCATCATTATAT	0.413																																						uc001pix.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1894-1896)CTC>CTT		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						141.0	141.0	141.0					11																	105797515		2202	4298	6500	SO:0001819	synonymous_variant	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105797515C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1896C>T	11.37:g.105797515C>T						GRIA4_uc001piw.2_Silent_p.L632L	p.L632L	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	13	2342	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	632			Helical; (Potential).		Q86XE8	Silent	SNP	ENST00000530497.1	37	c.1896C>T	CCDS8333.1																																																																																				PASS	0.413	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			32	217	32	217	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106888687	106888687	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:106888687G>A	ENST00000526355.2	-	1	563	c.95C>T	c.(94-96)tCt>tTt	p.S32F	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S32F|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S32F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	32					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.S32F(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GCAGAGCCTAGACAGGGGGCA	0.726																																						uc001pjg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(94-96)TCT>TTT		guanylate cyclase 1, soluble, alpha 2							10.0	12.0	11.0					11																	106888687		2161	4223	6384	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106888687G>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.95C>T	11.37:g.106888687G>A	ENSP00000431245:p.Ser32Phe					GUCY1A2_uc010rvo.1_Missense_Mutation_p.S32F|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S32F	p.S32F	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	1	485	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	32					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.95C>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327972	0.41197	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.87650	-1.95;-2.28;-1.96	3.34	3.34	0.38264	.	.	.	.	.	D	0.84651	0.5519	L	0.57536	1.79	0.36499	D	0.868897	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.86055	0.1528	9	0.72032	D	0.01	.	13.7864	0.63112	0.0:0.0:1.0:0.0	.	32;32;32	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	F	32	ENSP00000431245:S32F;ENSP00000282249:S32F;ENSP00000344874:S32F	ENSP00000282249:S32F	S	-	2	0	GUCY1A2	106393897	0.860000	0.29831	0.338000	0.25549	0.370000	0.29829	2.353000	0.44089	1.679000	0.50963	0.407000	0.27541	TCT		PASS	0.726	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			4	26	4	26	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107263540	107263540	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:107263540G>C	ENST00000282251.5	-	11	1726	c.1699C>G	c.(1699-1701)Ctg>Gtg	p.L567V	CWF19L2_ENST00000433523.1_Missense_Mutation_p.L567V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	567							catalytic activity (GO:0003824)	p.L567V(1)|p.L413V(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TGTGATTCCAGAGATTTTCCG	0.388																																						uc010rvp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1699-1701)CTG>GTG		CWF19-like 2, cell cycle control							114.0	110.0	112.0					11																	107263540		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107263540G>C	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1699C>G	11.37:g.107263540G>C	ENSP00000282251:p.Leu567Val					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.L567V	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	11	1729	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	567					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1699C>G	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	9.599	1.128204	0.21041	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.18174	2.92;2.23	6.04	1.46	0.22682	.	1.203310	0.05839	N	0.619031	T	0.14356	0.0347	L	0.50333	1.59	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.37888	-0.9686	10	0.16420	T	0.52	0.3396	3.0248	0.06087	0.1587:0.2552:0.4554:0.1307	.	567	Q2TBE0	C19L2_HUMAN	V	567	ENSP00000282251:L567V;ENSP00000387533:L567V	ENSP00000282251:L567V	L	-	1	2	CWF19L2	106768750	0.832000	0.29368	0.018000	0.16275	0.837000	0.47467	0.913000	0.28611	0.413000	0.25759	-0.142000	0.14014	CTG		PASS	0.388	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		14	88	14	88	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108383146	108383146	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:108383146G>A	ENST00000265843.4	-	6	3198	c.3088C>T	c.(3088-3090)Ctc>Ttc	p.L1030F	EXPH5_ENST00000443411.1_Missense_Mutation_p.L842F|EXPH5_ENST00000428840.1_Missense_Mutation_p.L954F|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.L1023F	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1030					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.L1030F(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCATGTATGAGAAAACTGCTT	0.408																																						uc001pkk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(3088-3090)CTC>TTC		exophilin 5 isoform a							81.0	77.0	78.0					11																	108383146		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383146G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3088C>T	11.37:g.108383146G>A	ENSP00000265843:p.Leu1030Phe					EXPH5_uc010rvy.1_Missense_Mutation_p.L842F|EXPH5_uc010rvz.1_Missense_Mutation_p.L874F|EXPH5_uc010rwa.1_Missense_Mutation_p.L954F	p.L1030F	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3199	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1030					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.3088C>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324344	0.24080	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.05580	3.99;3.91;3.77;3.99;3.82;3.42	5.87	3.97	0.46021	.	0.583164	0.16526	N	0.210586	T	0.09818	0.0241	L	0.52364	1.645	0.09310	N	1	P	0.48503	0.911	P	0.48873	0.593	T	0.15896	-1.0421	10	0.44086	T	0.13	-0.2294	6.6721	0.23074	0.0877:0.0:0.7343:0.178	.	1030	Q8NEV8	EXPH5_HUMAN	F	1030;954;842;1023;954;842	ENSP00000265843:L1030F;ENSP00000391966:L954F;ENSP00000411390:L842F;ENSP00000432546:L1023F;ENSP00000432683:L954F;ENSP00000446434:L842F	ENSP00000265843:L1030F	L	-	1	0	EXPH5	107888356	0.844000	0.29557	0.020000	0.16555	0.011000	0.07611	1.439000	0.35013	1.449000	0.47699	0.655000	0.94253	CTC		PASS	0.408	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		11	130	11	130	---	---	---	---
ANKK1	255239	broad.mit.edu	37	11	113265686	113265686	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:113265686G>A	ENST00000303941.3	+	3	610	c.516G>A	c.(514-516)caG>caA	p.Q172Q		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q172Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GGATGGAACAGTCCACCCGGA	0.567																																						uc001pny.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|stomach(1)|ovary(1)|breast(1)	8						c.(514-516)CAG>CAA		ankyrin repeat and kinase domain containing 1							47.0	46.0	46.0					11																	113265686		2000	4167	6167	SO:0001819	synonymous_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113265686G>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.516G>A	11.37:g.113265686G>A							p.Q172Q	NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	3	610	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	172			Protein kinase.			Silent	SNP	ENST00000303941.3	37	c.516G>A	CCDS44734.1																																																																																				PASS	0.567	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		7	26	7	26	---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	113934591	113934591	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:113934591C>T	ENST00000335953.4	+	2	949	c.569C>T	c.(568-570)tCa>tTa	p.S190L	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S190L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	190					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S190L(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GTCTCCACTTCATTTGGTCTT	0.567																																						uc001pop.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(568-570)TCA>TTA		promyelocytic leukemia zinc finger protein							51.0	54.0	53.0					11																	113934591		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:113934591C>T	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.569C>T	11.37:g.113934591C>T	ENSP00000338157:p.Ser190Leu					ZBTB16_uc001poo.1_Missense_Mutation_p.S190L|ZBTB16_uc001poq.2_Missense_Mutation_p.S190L	p.S190L	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	2	833	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	190					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.569C>T	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163898	0.57476	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.10382	2.88;2.88	5.67	5.67	0.87782	.	0.111779	0.64402	D	0.000006	T	0.12944	0.0314	L	0.27053	0.805	0.58432	D	0.999999	P;P	0.49090	0.651;0.919	B;P	0.45343	0.115;0.477	T	0.02424	-1.1161	10	0.36615	T	0.2	-4.7491	20.1272	0.97986	0.0:1.0:0.0:0.0	.	190;195	Q05516;Q59H43	ZBT16_HUMAN;.	L	190	ENSP00000338157:S190L;ENSP00000376721:S190L	ENSP00000309507:S190L	S	+	2	0	ZBTB16	113439801	1.000000	0.71417	0.973000	0.42090	0.942000	0.58702	7.705000	0.84606	2.828000	0.97474	0.655000	0.94253	TCA		PASS	0.567	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		6	101	6	101	---	---	---	---
PCSK7	9159	broad.mit.edu	37	11	117090469	117090469	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:117090469G>A	ENST00000320934.3	-	10	1791	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	PCSK7_ENST00000540028.1_Silent_p.T28T	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	387	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.T387T(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCCAGTCAGTGGTCACCTGGA	0.577			T	IGH@	MLCLS																																	uc001pqr.2				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		1	Substitution - coding silent(1)		lung(1)		0						c.(1159-1161)ACC>ACT		proprotein convertase subtilisin/kexin type 7							32.0	31.0	31.0					11																	117090469		2200	4295	6495	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117090469G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1161C>T	11.37:g.117090469G>A							p.T387T	NM_004716	NP_004707	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	10	1362	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	387			Catalytic.|Extracellular (Potential).		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.1161C>T	CCDS8382.1																																																																																				PASS	0.577	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		3	53	3	53	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117335878	117335878	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:117335878C>G	ENST00000321322.6	-	17	3226	c.3225G>C	c.(3223-3225)caG>caC	p.Q1075H	DSCAML1_ENST00000527706.1_Missense_Mutation_p.Q805H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1015	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.Q1075H(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGACACCGTTCTGCAGCTCCT	0.572																																						uc001prh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3223-3225)CAG>CAC		Down syndrome cell adhesion molecule like 1							80.0	71.0	74.0					11																	117335878		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117335878C>G		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3225G>C	11.37:g.117335878C>G	ENSP00000315465:p.Gln1075His						p.Q1075H	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	17	3227	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1015			Extracellular (Potential).|Fibronectin type-III 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3225G>C	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011172	0.54361	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.57436	0.4;0.4	4.78	3.85	0.44370	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59390	0.2190	L	0.31578	0.945	0.58432	D	0.999997	D	0.89917	1.0	D	0.79784	0.993	T	0.59674	-0.7410	9	0.44086	T	0.13	.	13.4484	0.61155	0.0:0.9233:0.0:0.0767	.	1015	Q8TD84	DSCL1_HUMAN	H	805;1075;782	ENSP00000434335:Q805H;ENSP00000315465:Q1075H	ENSP00000315465:Q1075H	Q	-	3	2	DSCAML1	116841088	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	2.046000	0.41260	1.203000	0.43233	0.561000	0.74099	CAG		PASS	0.572	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		4	114	4	114	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117351983	117351983	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:117351983G>C	ENST00000321322.6	-	13	2743	c.2742C>G	c.(2740-2742)ctC>ctG	p.L914L	DSCAML1_ENST00000527706.1_Silent_p.L644L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	854	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.L914L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAGCGGGCTTGAGCTGGGAGA	0.592																																						uc001prh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(2740-2742)CTC>CTG		Down syndrome cell adhesion molecule like 1							70.0	64.0	66.0					11																	117351983		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117351983G>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2742C>G	11.37:g.117351983G>C							p.L914L	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	13	2744	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	854			Extracellular (Potential).|Ig-like C2-type 9.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.2742C>G	CCDS8384.1																																																																																				PASS	0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		10	79	10	79	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117389208	117389208	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:117389208C>G	ENST00000321322.6	-	7	1664	c.1663G>C	c.(1663-1665)Gaa>Caa	p.E555Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E285Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	495	Ig-like C2-type 6.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.E555Q(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCTGATATTCAGCACTGCCC	0.522																																						uc001prh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1663-1665)GAA>CAA		Down syndrome cell adhesion molecule like 1							106.0	108.0	107.0					11																	117389208		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117389208C>G		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1663G>C	11.37:g.117389208C>G	ENSP00000315465:p.Glu555Gln					DSCAML1_uc001pri.1_Missense_Mutation_p.E359Q	p.E555Q	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	7	1665	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	495			Extracellular (Potential).|Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1663G>C	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204359	0.79127	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.69435	-0.4;-0.4	4.3	4.3	0.51218	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67373	0.2886	L	0.28458	0.855	0.80722	D	1	P;P	0.47677	0.877;0.899	P;P	0.57283	0.721;0.817	T	0.61441	-0.7062	9	0.13470	T	0.59	.	16.9379	0.86208	0.0:1.0:0.0:0.0	.	285;495	G3V1B5;Q8TD84	.;DSCL1_HUMAN	Q	285;555;262	ENSP00000434335:E285Q;ENSP00000315465:E555Q	ENSP00000315465:E555Q	E	-	1	0	DSCAML1	116894418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.818000	0.69236	2.203000	0.70933	0.555000	0.69702	GAA		PASS	0.522	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		7	176	7	176	---	---	---	---
TMPRSS4	56649	broad.mit.edu	37	11	117973862	117973862	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:117973862C>G	ENST00000437212.3	+	4	418	c.204C>G	c.(202-204)ctC>ctG	p.L68L	TMPRSS4_ENST00000523251.1_Silent_p.L28L|TMPRSS4_ENST00000534111.1_Silent_p.L66L|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000522824.1_Silent_p.L68L			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	68	LDL-receptor class A.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.L68L(1)		breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GGCAGCCTCTCCACTTCATCC	0.592																																						uc010rxo.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(202-204)CTC>CTG		transmembrane protease, serine 4 isoform 1							144.0	141.0	142.0					11																	117973862		2200	4296	6496	SO:0001819	synonymous_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117973862C>G	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.204C>G	11.37:g.117973862C>G						TMPRSS4_uc010rxp.1_Silent_p.L68L|TMPRSS4_uc010rxq.1_5'UTR|TMPRSS4_uc010rxr.1_Silent_p.L43L|TMPRSS4_uc010rxs.1_Silent_p.L28L|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.L43L	p.L68L	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	4	495	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	68			Extracellular (Potential).|LDL-receptor class A.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	c.204C>G	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	C	0.730	-0.780114	0.02929	.	.	ENSG00000137648	ENST00000517544	.	.	.	5.16	1.88	0.25563	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.19945	N	0.99994	.	.	.	.	.	.	T	0.22521	-1.0214	4	.	.	.	.	7.2928	0.26376	0.0:0.6274:0.1816:0.191	.	.	.	.	A	35	.	.	P	+	1	0	TMPRSS4	117479072	0.001000	0.12720	0.813000	0.32504	0.102000	0.19082	-0.218000	0.09240	0.428000	0.26173	0.462000	0.41574	CCA		PASS	0.592	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		5	283	5	283	---	---	---	---
UBE4A	9354	broad.mit.edu	37	11	118247311	118247311	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:118247311G>A	ENST00000431736.2	+	10	1566	c.1494G>A	c.(1492-1494)ttG>ttA	p.L498L	UBE4A_ENST00000545354.1_5'Flank|UBE4A_ENST00000252108.3_Silent_p.L491L					ubiquitination factor E4A									p.L498L(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAACCTGTTTGATCCCAGCTG	0.418																																						uc001psw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(1471-1473)TTG>TTA		ubiquitination factor E4A							115.0	117.0	117.0					11																	118247311		2200	4296	6496	SO:0001819	synonymous_variant	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118247311G>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1494G>A	11.37:g.118247311G>A						UBE4A_uc001psv.2_Silent_p.L498L	p.L491L	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	10	1602	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	491						Silent	SNP	ENST00000431736.2	37	c.1473G>A	CCDS8396.1																																																																																				PASS	0.418	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		85	183	85	183	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118521218	118521218	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:118521218C>T	ENST00000361417.2	+	21	4251	c.3840C>T	c.(3838-3840)ttC>ttT	p.F1280F	PHLDB1_ENST00000356063.5_Silent_p.F1233F|PHLDB1_ENST00000524713.1_Silent_p.F423F|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.F331F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1280	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.F1280F(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGTTTGTCTTCGACCGGCTCA	0.572																																						uc001ptr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(3838-3840)TTC>TTT		pleckstrin homology-like domain, family B,							138.0	121.0	127.0					11																	118521218		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118521218C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3840C>T	11.37:g.118521218C>T						PHLDB1_uc001pts.2_Silent_p.F1280F|PHLDB1_uc001ptt.2_Silent_p.F1233F|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.F1095F|PHLDB1_uc001ptw.1_Silent_p.F635F|PHLDB1_uc009zai.1_Silent_p.F316F|PHLDB1_uc001ptx.1_Silent_p.F316F	p.F1280F	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	21	4193	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1280			PH.		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.3840C>T	CCDS8401.1																																																																																				PASS	0.572	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		22	108	22	108	---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118919196	118919196	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:118919196C>G	ENST00000404233.3	-	19	2369	c.2245G>C	c.(2245-2247)Gag>Cag	p.E749Q	HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Missense_Mutation_p.E687Q|HYOU1_ENST00000529972.1_Missense_Mutation_p.E687Q|RP11-110I1.6_ENST00000531886.1_RNA	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	749					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.E749Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACCTGGGTCTCAAATATGAAT	0.562																																						uc001puu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2245-2247)GAG>CAG		hypoxia up-regulated 1 precursor							98.0	84.0	89.0					11																	118919196		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118919196C>G	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2245G>C	11.37:g.118919196C>G	ENSP00000384144:p.Glu749Gln					HYOU1_uc001put.2_Missense_Mutation_p.E714Q|HYOU1_uc010ryu.1_Missense_Mutation_p.E707Q|HYOU1_uc010ryv.1_Missense_Mutation_p.E638Q|HYOU1_uc001pux.3_Missense_Mutation_p.E749Q|HYOU1_uc010ryw.1_RNA	p.E749Q	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	19	2438	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	749					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.2245G>C	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688808	0.88639	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.00986	5.47;5.47;5.47	5.38	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.03959	0.0111	L	0.55213	1.73	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.77004	0.989;0.963;0.989;0.989	T	0.49652	-0.8917	10	0.66056	D	0.02	-34.1382	14.2852	0.66243	0.0:0.929:0.0:0.071	.	740;731;749;749	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	Q	749;740;687;598;687;730	ENSP00000384144:E749Q;ENSP00000437313:E687Q;ENSP00000433397:E687Q	ENSP00000278752:E740Q	E	-	1	0	HYOU1	118424406	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.804000	0.75186	1.525000	0.49052	0.655000	0.94253	GAG		PASS	0.562	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		22	160	22	160	---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118919543	118919543	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:118919543C>G	ENST00000404233.3	-	18	2172	c.2048G>C	c.(2047-2049)gGa>gCa	p.G683A	HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Missense_Mutation_p.G621A|HYOU1_ENST00000529972.1_Missense_Mutation_p.G621A	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	683					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.G683A(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CTTCTTCTCTCCCTCTGGGGC	0.612																																						uc001puu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2047-2049)GGA>GCA		hypoxia up-regulated 1 precursor							74.0	73.0	73.0					11																	118919543		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118919543C>G	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2048G>C	11.37:g.118919543C>G	ENSP00000384144:p.Gly683Ala					HYOU1_uc001put.2_Missense_Mutation_p.G648A|HYOU1_uc010ryu.1_Missense_Mutation_p.G641A|HYOU1_uc010ryv.1_Missense_Mutation_p.G572A|HYOU1_uc001pux.3_Missense_Mutation_p.G683A|HYOU1_uc010ryw.1_RNA	p.G683A	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	18	2241	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	683					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.2048G>C	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	1.871	-0.460185	0.04508	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01279	5.06;5.07;5.07	5.37	2.92	0.33932	.	0.197476	0.43110	D	0.000617	T	0.00608	0.0020	N	0.02391	-0.57	0.80722	D	1	B;B;B;B	0.13145	0.0;0.0;0.007;0.007	B;B;B;B	0.15484	0.001;0.001;0.013;0.013	T	0.50668	-0.8801	10	0.08837	T	0.75	-8.0766	4.2851	0.10851	0.1426:0.174:0.0:0.6834	.	674;665;683;683	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	A	683;674;621;532;621;664	ENSP00000384144:G683A;ENSP00000437313:G621A;ENSP00000433397:G621A	ENSP00000278752:G674A	G	-	2	0	HYOU1	118424753	0.994000	0.37717	0.983000	0.44433	0.379000	0.30106	0.966000	0.29331	0.423000	0.26033	-0.345000	0.07892	GGA		PASS	0.612	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		6	83	6	83	---	---	---	---
C2CD2L	9854	broad.mit.edu	37	11	118984642	118984642	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:118984642G>A	ENST00000528586.1	+	8	881	c.811G>A	c.(811-813)Gtg>Atg	p.V271M	C2CD2L_ENST00000336702.3_Missense_Mutation_p.V524M			O14523	C2C2L_HUMAN	C2CD2-like	523						integral component of membrane (GO:0016021)		p.V524M(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CAGTGGGCGGGTGGCCAAGAA	0.597																																						uc001pvo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1567-1569)GTG>ATG		transmembrane protein 24							57.0	59.0	59.0					11																	118984642		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118984642G>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.811G>A	11.37:g.118984642G>A	ENSP00000433600:p.Val271Met					C2CD2L_uc001pvn.2_Missense_Mutation_p.V524M	p.V523M	NM_014807	NP_055622	O14523	C2C2L_HUMAN			12	1926	+			523					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1567G>A		.	.	.	.	.	.	.	.	.	.	G	11.51	1.661395	0.29515	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.46451	0.87;0.87	5.25	2.29	0.28610	.	0.510541	0.21049	N	0.081025	T	0.24967	0.0606	N	0.14661	0.345	0.26041	N	0.981609	B;B	0.29590	0.25;0.25	B;B	0.37047	0.24;0.24	T	0.12268	-1.0554	10	0.32370	T	0.25	-1.8091	5.388	0.16227	0.2386:0.3441:0.4173:0.0	.	523;524	O14523;O14523-2	C2C2L_HUMAN;.	M	524;271	ENSP00000338885:V524M;ENSP00000433600:V271M	ENSP00000338885:V524M	V	+	1	0	C2CD2L	118489852	0.965000	0.33210	1.000000	0.80357	0.797000	0.45037	0.616000	0.24344	1.445000	0.47624	-0.137000	0.14449	GTG		PASS	0.597	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		17	66	17	66	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119029033	119029033	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:119029033C>G	ENST00000449422.2	+	10	1346	c.1158C>G	c.(1156-1158)ctC>ctG	p.L386L	ABCG4_ENST00000531739.1_Silent_p.L386L|ABCG4_ENST00000307417.3_Silent_p.L386L|AP002956.1_ENST00000599663.1_5'Flank	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	386	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L386L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGTCCATCCTCAGGGACACGG	0.582																																						uc001pvs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1156-1158)CTC>CTG		ATP-binding cassette, subfamily G, member 4							198.0	179.0	185.0					11																	119029033		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119029033C>G	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1158C>G	11.37:g.119029033C>G						ABCG4_uc009zar.2_Silent_p.L386L	p.L386L	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	1494	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	386			Cytoplasmic (Potential).|ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.1158C>G	CCDS8415.1																																																																																				PASS	0.582	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		61	305	61	305	---	---	---	---
POU2F3	25833	broad.mit.edu	37	11	120178198	120178198	+	Silent	SNP	G	G	A	rs377762447		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:120178198G>A	ENST00000543440.2	+	9	930	c.780G>A	c.(778-780)ccG>ccA	p.P260P	POU2F3_ENST00000260264.4_Silent_p.P262P	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	260					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.P260P(2)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGTCCTCTCCGTCAGACCCCT	0.577																																						uc001pxc.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(1)|skin(1)	2						c.(778-780)CCG>CCA		POU transcription factor				0,4406		0,0,2203	123.0	107.0	113.0		780	-7.8	0.3	11		113	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	POU2F3	NM_014352.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		260/437	120178198	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120178198G>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.780G>A	11.37:g.120178198G>A						POU2F3_uc010rzk.1_Silent_p.P214P|POU2F3_uc010rzl.1_Silent_p.P190P|POU2F3_uc001pxe.1_Silent_p.P45P	p.P260P	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	9	882	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	260					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	c.780G>A	CCDS8431.1																																																																																				PASS	0.577	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			27	157	27	157	---	---	---	---
ARHGEF12	23365	broad.mit.edu	37	11	120346150	120346150	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:120346150G>C	ENST00000397843.2	+	33	3377	c.3211G>C	c.(3211-3213)Gat>Cat	p.D1071H	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D968H|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1052H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1071	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1071H(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCTACAGCTGATAGCAAACA	0.408			T	MLL	AML																																	uc001pxl.1				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(3211-3213)GAT>CAT		Rho guanine nucleotide exchange factor (GEF) 12							200.0	184.0	189.0					11																	120346150		1987	4161	6148	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|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	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120346150G>C	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3211G>C	11.37:g.120346150G>C	ENSP00000380942:p.Asp1071His					ARHGEF12_uc009zat.2_Missense_Mutation_p.D1052H|ARHGEF12_uc010rzn.1_Missense_Mutation_p.D968H|ARHGEF12_uc009zau.1_Missense_Mutation_p.D968H	p.D1071H	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	33	3218	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1071			PH.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3211G>C	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573993	0.86542	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.66099	-0.19;-0.19;-0.19	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.50627	D	0.000109	T	0.81503	0.4836	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.77004	0.891;0.989;0.976	D	0.84153	0.0424	10	0.72032	D	0.01	-15.7515	19.0116	0.92875	0.0:0.0:1.0:0.0	.	968;1052;1071	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	H	1071;1052;968	ENSP00000380942:D1071H;ENSP00000349056:D1052H;ENSP00000432984:D968H	ENSP00000349056:D1052H	D	+	1	0	ARHGEF12	119851360	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	9.649000	0.98487	2.539000	0.85634	0.655000	0.94253	GAT		PASS	0.408	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		31	213	31	213	---	---	---	---
BSX	390259	broad.mit.edu	37	11	122850019	122850019	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:122850019T>A	ENST00000343035.2	-	2	457	c.409A>T	c.(409-411)Acg>Tcg	p.T137S		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	137					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T137S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CGTTCTGGCGTGGACAGGTAG	0.662																																						uc010rzs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)ACG>TCG		brain specific homeobox							63.0	74.0	70.0					11																	122850019		2078	4204	6282	SO:0001583	missense	390259							g.chr11:122850019T>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.409A>T	11.37:g.122850019T>A	ENSP00000344285:p.Thr137Ser						p.T137S	NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	2	409	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	137			Homeobox.			Missense_Mutation	SNP	ENST00000343035.2	37	c.409A>T	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848949	0.91277	.	.	ENSG00000188909	ENST00000343035	D	0.96041	-3.89	5.22	4.02	0.46733	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.100737	0.64402	D	0.000002	D	0.93363	0.7884	N	0.10629	0.01	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92074	0.5667	10	0.30854	T	0.27	.	11.7691	0.51947	0.0:0.0:0.147:0.853	.	137	Q3C1V8	BSH_HUMAN	S	137	ENSP00000344285:T137S	ENSP00000344285:T137S	T	-	1	0	BSX	122355229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.095000	0.57728	1.986000	0.57962	0.533000	0.62120	ACG		PASS	0.662	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		17	121	17	121	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123894542	123894542	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:123894542T>A	ENST00000375024.1	+	1	823	c.823T>A	c.(823-825)Tac>Aac	p.Y275N		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y275N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		GGCCATTTTCTACACTGTGCT	0.488																																						uc010sad.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(823-825)TAC>AAC		olfactory receptor, family 10, subfamily G,							149.0	135.0	140.0					11																	123894542		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894542T>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.823T>A	11.37:g.123894542T>A	ENSP00000364164:p.Tyr275Asn						p.Y275N	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	823	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	275			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000375024.1	37	c.823T>A	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	T	8.083	0.772792	0.16051	.	.	ENSG00000236981	ENST00000375024	T	0.00321	8.11	3.39	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36034	N	0.002828	T	0.00384	0.0012	M	0.67953	2.075	0.34613	D	0.717812	D	0.53619	0.961	P	0.62298	0.9	T	0.70890	-0.4749	10	0.37606	T	0.19	.	3.6316	0.08134	0.1929:0.1117:0.0:0.6954	.	275	Q8NGN4	O10G9_HUMAN	N	275	ENSP00000364164:Y275N	ENSP00000364164:Y275N	Y	+	1	0	OR10G9	123399752	0.945000	0.32115	1.000000	0.80357	0.332000	0.28634	1.354000	0.34056	0.500000	0.27991	0.482000	0.46254	TAC		PASS	0.488	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		33	168	33	168	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124766924	124766924	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:124766924C>A	ENST00000306534.3	-	2	789	c.304G>T	c.(304-306)Ggc>Tgc	p.G102C	ROBO4_ENST00000533054.1_5'UTR|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	102	Ig-like C2-type 1.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G102C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGGGCCTGGCCATCGTGGGCA	0.667																																						uc001qbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(304-306)GGC>TGC		roundabout homolog 4, magic roundabout							42.0	43.0	43.0					11																	124766924		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124766924C>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.304G>T	11.37:g.124766924C>A	ENSP00000304945:p.Gly102Cys					ROBO4_uc010sas.1_5'UTR|ROBO4_uc001qbh.2_Intron|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	p.G102C	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	2	444	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	102			Ig-like C2-type 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.304G>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099457	0.37048	.	.	ENSG00000154133	ENST00000306534	T	0.67171	-0.25	5.32	3.43	0.39272	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.560351	0.15058	N	0.282913	T	0.70736	0.3258	M	0.74546	2.27	0.80722	D	1	D	0.56968	0.978	P	0.50590	0.645	T	0.68961	-0.5271	10	0.59425	D	0.04	.	7.1358	0.25527	0.0:0.7342:0.1735:0.0923	.	102	Q8WZ75	ROBO4_HUMAN	C	102	ENSP00000304945:G102C	ENSP00000304945:G102C	G	-	1	0	ROBO4	124272134	0.000000	0.05858	0.130000	0.21974	0.105000	0.19272	0.512000	0.22755	0.611000	0.30052	0.561000	0.74099	GGC		PASS	0.667	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		10	38	10	38	---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125483013	125483013	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:125483013A>G	ENST00000529196.1	+	14	1701	c.1495A>G	c.(1495-1497)Agg>Ggg	p.R499G	STT3A_ENST00000531491.1_Missense_Mutation_p.R407G|STT3A_ENST00000392708.4_Missense_Mutation_p.R499G			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	499					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.R499G(1)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GGATGGCAGTAGGATCATATT	0.478																																						uc001qcd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1495-1497)AGG>GGG		integral membrane protein 1							165.0	155.0	158.0					11																	125483013		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125483013A>G	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1495A>G	11.37:g.125483013A>G	ENSP00000436962:p.Arg499Gly					STT3A_uc001qce.2_Missense_Mutation_p.R499G|STT3A_uc010sbg.1_Missense_Mutation_p.R407G|STT3A_uc009zbn.2_Missense_Mutation_p.R221G	p.R499G	NM_152713	NP_689926	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	13	1605	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	499			Lumenal (Potential).		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.1495A>G	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575210	0.65878	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.86	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.92833	3.35	0.80722	D	1	P;B	0.40534	0.72;0.436	B;B	0.39971	0.272;0.315	T	0.74472	-0.3654	9	0.45353	T	0.12	-17.7234	12.7377	0.57234	0.8626:0.1374:0.0:0.0	.	407;499	B4DJ24;P46977	.;STT3A_HUMAN	G	499;499;407	.	ENSP00000376472:R499G	R	+	1	2	STT3A	124988223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.138000	0.50570	0.994000	0.38892	0.460000	0.39030	AGG		PASS	0.478	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		50	276	50	276	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134086933	134086933	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:134086933G>C	ENST00000534548.2	-	3	343	c.279C>G	c.(277-279)ttC>ttG	p.F93L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	93					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.F93L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CAAAATGATAGAACAATGCCA	0.408																																						uc001qhd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(277-279)TTC>TTG		non-SMC condensin II complex, subunit D3							117.0	108.0	111.0					11																	134086933		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134086933G>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.279C>G	11.37:g.134086933G>C	ENSP00000433681:p.Phe93Leu					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	p.F93L	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	3	885	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	93					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.279C>G	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	3.149	-0.174560	0.06421	.	.	ENSG00000151503	ENST00000534548	T	0.14391	2.51	5.59	3.71	0.42584	.	0.122927	0.56097	D	0.000030	T	0.08133	0.0203	L	0.33137	0.985	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17137	-1.0379	10	0.02654	T	1	-18.8512	7.9218	0.29850	0.142:0.2662:0.5918:0.0	.	93	P42695	CNDD3_HUMAN	L	93	ENSP00000433681:F93L	ENSP00000431612:F93L	F	-	3	2	NCAPD3	133592143	0.994000	0.37717	0.994000	0.49952	0.768000	0.43524	0.114000	0.15520	0.723000	0.32274	0.585000	0.79938	TTC		PASS	0.408	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		17	107	17	107	---	---	---	---
THYN1	29087	broad.mit.edu	37	11	134118800	134118800	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:134118800G>C	ENST00000341541.3	-	6	995	c.534C>G	c.(532-534)ctC>ctG	p.L178L	THYN1_ENST00000352327.5_Intron|THYN1_ENST00000525677.1_5'Flank|THYN1_ENST00000392594.3_Silent_p.L178L|THYN1_ENST00000392595.2_Silent_p.L178L	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	178						nucleus (GO:0005634)		p.L178L(1)		endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		GATAGGATTTGAGCTCAGCCA	0.463																																						uc001qhf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(532-534)CTC>CTG		thymocyte nuclear protein 1 isoform 1							122.0	118.0	120.0					11																	134118800		2201	4297	6498	SO:0001819	synonymous_variant	29087					nucleus		g.chr11:134118800G>C	BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.534C>G	11.37:g.134118800G>C						THYN1_uc001qhg.2_Silent_p.L178L|THYN1_uc001qhh.2_Silent_p.L178L|THYN1_uc001qhi.2_Intron|THYN1_uc001qhj.2_Intron	p.L178L	NM_001037305	NP_001032382	Q9P016	THYN1_HUMAN		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)	7	636	-	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	178					Q567Q2|Q9H3L4|Q9HC20	Silent	SNP	ENST00000341541.3	37	c.534C>G	CCDS8496.1																																																																																				PASS	0.463	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393599.1	NM_014174		44	213	44	213	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	247613	247613	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:247613G>C	ENST00000538872.1	+	4	1202	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.E362Q|IQSEC3_ENST00000382841.2_Missense_Mutation_p.E59Q|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	362					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E362Q(1)|p.E59Q(1)|p.E59K(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		ACCCACGGCCGAGAGCCTGGC	0.677																																						uc001qhw.1																			3	Substitution - Missense(3)		lung(2)|urinary_tract(1)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(175-177)GAG>CAG		IQ motif and Sec7 domain 3							17.0	18.0	18.0					12																	247613		2199	4299	6498	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247613G>C	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1084G>C	12.37:g.247613G>C	ENSP00000437554:p.Glu362Gln					IQSEC3_uc001qhu.1_Missense_Mutation_p.E59Q|IQSEC3_uc001qht.1_Missense_Mutation_p.E144Q|uc001qhv.1_RNA	p.E59Q	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	181	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		362					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.175G>C	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641892	0.67244	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.75938	-0.98;-0.98;-0.98	5.04	5.04	0.67666	.	0.212421	0.51477	D	0.000097	D	0.85137	0.5628	M	0.77313	2.365	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.66351	0.879;0.943	D	0.83392	0.0018	10	0.26408	T	0.33	.	18.3827	0.90457	0.0:0.0:1.0:0.0	.	362;59	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	Q	362;362;59	ENSP00000437554:E362Q;ENSP00000315662:E362Q;ENSP00000372292:E59Q	ENSP00000315662:E362Q	E	+	1	0	IQSEC3	117874	1.000000	0.71417	0.989000	0.46669	0.258000	0.26162	9.731000	0.98807	2.341000	0.79615	0.462000	0.41574	GAG		PASS	0.677	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		7	23	7	23	---	---	---	---
ADIPOR2	79602	broad.mit.edu	37	12	1889746	1889746	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:1889746C>T	ENST00000357103.4	+	5	844	c.593C>T	c.(592-594)tCa>tTa	p.S198L		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	198					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)	p.S198L(1)		endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CTTTCTTTTTCATGGCTCTTC	0.438																																						uc001qjm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)TCA>TTA		adiponectin receptor 2							154.0	155.0	154.0					12																	1889746		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1889746C>T	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.593C>T	12.37:g.1889746C>T	ENSP00000349616:p.Ser198Leu					ADIPOR2_uc001qjn.2_Missense_Mutation_p.S198L	p.S198L	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		5	790	+	Ovarian(42;0.107)		198			Helical; Name=2; (Potential).		Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.593C>T	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328111	0.95733	.	.	ENSG00000006831	ENST00000357103	T	0.65549	-0.16	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.87285	0.6139	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90720	0.4634	10	0.87932	D	0	-8.4566	20.1865	0.98220	0.0:1.0:0.0:0.0	.	198	Q86V24	ADR2_HUMAN	L	198	ENSP00000349616:S198L	ENSP00000349616:S198L	S	+	2	0	ADIPOR2	1760007	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	7.818000	0.86416	2.775000	0.95449	0.655000	0.94253	TCA		PASS	0.438	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		150	647	150	647	---	---	---	---
RHNO1	83695	broad.mit.edu	37	12	2994677	2994677	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:2994677G>A	ENST00000489288.2	+	2	297	c.145G>A	c.(145-147)Gac>Aac	p.D49N	RHNO1_ENST00000464682.2_Intron|RHNO1_ENST00000461997.2_Intron	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1	Q9BSD3	RHNO1_HUMAN	RAD9-HUS1-RAD1 interacting nuclear orphan 1	49					cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|positive regulation of G0 to G1 transition (GO:0070318)|recombinational repair (GO:0000725)	chromosome (GO:0005694)|nucleus (GO:0005634)		p.D49N(1)									CAAGCCCATTGACCACAGCAC	0.468																																						uc001qlh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)GAC>AAC		RecName: Full=Uncharacterized protein C12orf32;							87.0	71.0	76.0					12																	2994677		2203	4300	6503	SO:0001583	missense	83695							g.chr12:2994677G>A	AK021945	CCDS8518.1, CCDS58199.1	12p13.33	2012-08-23	2012-08-23	2012-08-23	ENSG00000171792	ENSG00000171792			28206	protein-coding gene	gene with protein product	"""Rad9, Rad1, Hus1 interacting nuclear orphan"""	614085	"""chromosome 12 open reading frame 32"""	C12orf32		20811708, 21659603	Standard	NM_001252499		Approved	HKMT1188, MGC13204, RHINO	uc031qfq.1	Q9BSD3	OTTHUMG00000158557	ENST00000489288.2:c.145G>A	12.37:g.2994677G>A	ENSP00000438590:p.Asp49Asn					TULP3_uc010sef.1_Intron|C12orf32_uc010see.1_Intron|C12orf32_uc001qli.2_Intron	p.D49N	NR_027363				OV - Ovarian serous cystadenocarcinoma(31;0.000622)		2	313	+								B7Z989	Missense_Mutation	SNP	ENST00000489288.2	37	c.145G>A	CCDS8518.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996551	0.74818	.	.	ENSG00000171792	ENST00000538636;ENST00000489288;ENST00000366285;ENST00000538700	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82145	-0.0602	8	0.87932	D	0	-6.6618	15.7354	0.77839	0.0:0.0:1.0:0.0	.	49	Q9BSD3	RHINO_HUMAN	N	49	.	ENSP00000444654:D49N	D	+	1	0	C12orf32	2864938	0.998000	0.40836	0.669000	0.29828	0.663000	0.39108	5.071000	0.64382	2.486000	0.83907	0.591000	0.81541	GAC		PASS	0.468	RHNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351286.2	NM_031465		6	151	6	151	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5756892	5756893	+	Splice_Site	DNP	CC	CC	AA	rs376633667		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:5756892_5756893CC>AA	ENST00000356134.5	-	17	1694_1695	c.1623_1624GG>TT	c.(1621-1626)atGGtt>atTTtt	p.541_542MV>IF	ANO2_ENST00000327087.8_Splice_Site_p.540_541MV>IF|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Splice_Site_p.541_542MV>IF	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	545					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.?(4)|p.M541I(1)|p.M540I(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AAGGAAATTACCATGAATAAGA	0.446																																						uc001qnm.2																			6	Unknown(4)|Substitution - Missense(2)		lung(6)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.e16+1|c.(1618-1620)ATG>ATT		anoctamin 2																																				SO:0001630	splice_region_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5756892C>A|g.chr12:5756893C>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1623_1624delinsAA	12.37:g.5756892_5756893delinsAA							p.M540_splice|p.M540I	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			16	1692	-			|545			|Helical; (Potential).		C4N787|Q9H847	Splice_Site|Missense_Mutation	SNP	ENST00000356134.5	37	c.1620_splice|c.1620G>T																																																																																					PASS	0.446	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	Missense_Mutation	4	38	4	38	---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6657950	6657950	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:6657950G>A	ENST00000396840.2	-	5	1154	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	IFFO1_ENST00000356896.4_Silent_p.A374A|IFFO1_ENST00000465801.1_Silent_p.A67A|IFFO1_ENST00000436152.2_Silent_p.A67A|IFFO1_ENST00000336604.4_Silent_p.A374A			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	371						intermediate filament (GO:0005882)		p.A371A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CCTCCTCGACGGCAGCCTTGC	0.642																																						uc001qpd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1111-1113)GCC>GCT		intermediate filament family orphan isoform 2							34.0	31.0	32.0					12																	6657950		2203	4300	6503	SO:0001819	synonymous_variant	25900					intermediate filament		g.chr12:6657950G>A	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1113C>T	12.37:g.6657950G>A						IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Silent_p.A11A|IFFO1_uc001qpb.1_Silent_p.A48A|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.A382A|IFFO1_uc001qpf.1_Silent_p.A374A|IFFO1_uc001qoz.1_Silent_p.A11A|IFFO1_uc001qpc.1_Silent_p.A374A|IFFO1_uc001qpg.2_Silent_p.A11A	p.A371A	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN			5	1147	-			371					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37	c.1113C>T		.	.	.	.	.	.	.	.	.	.	G	10.69	1.422065	0.25639	.	.	ENSG00000010295	ENST00000416019	.	.	.	4.26	1.7	0.24286	.	.	.	.	.	T	0.46425	0.1392	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30060	-0.9991	4	.	.	.	-7.5715	3.9651	0.09428	0.2792:0.1847:0.5361:0.0	.	.	.	.	L	105	.	.	P	-	2	0	IFFO1	6528211	1.000000	0.71417	0.833000	0.33012	0.998000	0.95712	2.382000	0.44345	0.572000	0.29383	0.655000	0.94253	CCG		PASS	0.642	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		5	66	5	66	---	---	---	---
LAG3	3902	broad.mit.edu	37	12	6886553	6886553	+	Nonsense_Mutation	SNP	C	C	G	rs180706464		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:6886553C>G	ENST00000203629.2	+	6	1514	c.1181C>G	c.(1180-1182)tCa>tGa	p.S394*		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	394	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)	p.S394*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGGAGTTTCTCAGGACCTTGG	0.582																																						uc001qqt.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1180-1182)TCA>TGA		lymphocyte-activation protein 3 precursor							107.0	99.0	102.0					12																	6886553		2203	4300	6503	SO:0001587	stop_gained	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6886553C>G		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1181C>G	12.37:g.6886553C>G	ENSP00000203629:p.Ser394*					LAG3_uc001qqu.2_Nonsense_Mutation_p.S224*	p.S394*	NM_002286	NP_002277	P18627	LAG3_HUMAN			6	1530	+			394			Extracellular (Potential).|Ig-like C2-type 3.		A8K7T9|Q7Z643	Nonsense_Mutation	SNP	ENST00000203629.2	37	c.1181C>G	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126122	0.94429	.	.	ENSG00000089692	ENST00000203629	.	.	.	4.76	4.76	0.60689	.	0.561731	0.17434	N	0.174358	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-0.5093	13.1336	0.59397	0.0:1.0:0.0:0.0	.	.	.	.	X	394	.	ENSP00000203629:S394X	S	+	2	0	LAG3	6756814	0.015000	0.18098	0.128000	0.21923	0.040000	0.13550	1.220000	0.32491	2.479000	0.83701	0.561000	0.74099	TCA		PASS	0.582	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			37	347	37	347	---	---	---	---
TPI1	7167	broad.mit.edu	37	12	6976808	6976808	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:6976808C>T	ENST00000229270.4	+	1	526	c.189C>T	c.(187-189)atC>atT	p.I63I	TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000396705.5_Silent_p.I26I	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	63					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)	p.I26I(1)|p.I63I(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGGAGCTCATCGGCACTCTGA	0.701																																						uc001qrk.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(76-78)ATC>ATT		triosephosphate isomerase 1 isoform 1							18.0	21.0	20.0					12																	6976808		2197	4294	6491	SO:0001819	synonymous_variant	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6976808C>T		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.189C>T	12.37:g.6976808C>T						TPI1_uc010sfo.1_5'Flank	p.I26I	NM_000365	NP_000356	P60174	TPIS_HUMAN			1	116	+			26					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Silent	SNP	ENST00000229270.4	37	c.78C>T	CCDS53740.1																																																																																				PASS	0.701	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		4	66	4	66	---	---	---	---
TPI1	7167	broad.mit.edu	37	12	6978455	6978455	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:6978455G>C	ENST00000229270.4	+	4	806	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	TPI1_ENST00000488464.2_Missense_Mutation_p.E38Q|TPI1_ENST00000535434.1_Missense_Mutation_p.E38Q|TPI1_ENST00000396705.5_Missense_Mutation_p.E120Q	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	157					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)	p.E120Q(1)|p.E157Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TGCTCTGGCAGAGGGACTCGG	0.502											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qrk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(358-360)GAG>CAG		triosephosphate isomerase 1 isoform 1							182.0	193.0	189.0					12																	6978455		2203	4300	6503	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6978455G>C		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.469G>C	12.37:g.6978455G>C	ENSP00000229270:p.Glu157Gln		OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	TPI1_uc010sfo.1_Missense_Mutation_p.E38Q	p.E120Q	NM_000365	NP_000356	P60174	TPIS_HUMAN			4	396	+			120					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.358G>C	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693461	0.30052	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.94184	-3.37;-3.37;-3.37	4.53	4.53	0.55603	Aldolase-type TIM barrel (1);	0.359939	0.27645	U	0.018442	D	0.89234	0.6657	L	0.47078	1.49	0.43007	D	0.994537	B	0.27166	0.17	B	0.17979	0.02	D	0.86432	0.1761	10	0.09590	T	0.72	.	16.8714	0.86041	0.0:0.0:1.0:0.0	.	157	P60174	TPIS_HUMAN	Q	157;120;38	ENSP00000229270:E157Q;ENSP00000379933:E120Q;ENSP00000443599:E38Q	ENSP00000229270:E157Q	E	+	1	0	TPI1	6848716	1.000000	0.71417	0.992000	0.48379	0.922000	0.55478	6.285000	0.72658	2.068000	0.61886	0.462000	0.41574	GAG		PASS	0.502	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		10	851	10	851	---	---	---	---
C1RL	51279	broad.mit.edu	37	12	7249728	7249728	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:7249728C>G	ENST00000266542.4	-	6	815	c.723G>C	c.(721-723)caG>caC	p.Q241H	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_Missense_Mutation_p.R257T	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	241					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.Q241H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCGTCTGATTCTGGGCAATGG	0.627																																						uc001qsn.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(721-723)CAG>CAC		complement component 1, r subcomponent-like							30.0	36.0	34.0					12																	7249728		2201	4300	6501	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7249728C>G	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.723G>C	12.37:g.7249728C>G	ENSP00000266542:p.Gln241His					C1RL_uc009zft.2_Missense_Mutation_p.R257T	p.Q241H	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN			6	740	-			241					Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.723G>C	CCDS8573.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	9.458|9.458|9.458	1.092380|1.092380|1.092380	0.20471|0.20471|0.20471	.|.|.	.|.|.	ENSG00000139178|ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661|ENST00000544702	.|T|T	.|0.42131|0.35605	.|0.98|1.3	4.68|4.68|4.68	1.79|1.79|1.79	0.24919|0.24919|0.24919	.|Peptidase cysteine/serine, trypsin-like (1);|.	.|0.650809|.	.|0.14789|.	.|N|.	.|0.298313|.	T|T|T	0.20455|0.20455|0.20455	0.0492|0.0492|0.0492	L|L|L	0.41710|0.41710|0.41710	1.295|1.295|1.295	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B|B	.|0.02656|0.19331	.|0.0|0.035	.|B|B	.|0.04013|0.16289	.|0.001|0.015	T|T|T	0.31251|0.31251|0.31251	-0.9950|-0.9950|-0.9950	5|10|9	.|0.42905|0.07175	.|T|T	.|0.14|0.84	.|.|.	1.6539|1.6539|1.6539	0.02777|0.02777|0.02777	0.1589:0.3504:0.3094:0.1813|0.1589:0.3504:0.3094:0.1813|0.1589:0.3504:0.3094:0.1813	.|.|.	.|241|257	.|Q9NZP8|F5GWF3	.|C1RL_HUMAN|.	Q|H|T	74|241|257	.|ENSP00000266542:Q241H|ENSP00000441885:R257T	.|ENSP00000266542:Q241H|ENSP00000441885:R257T	E|Q|R	-|-|-	1|3|2	0|2|0	C1RL|C1RL|C1RL	7140870|7140870|7140870	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.077000|0.077000|0.077000	0.20336|0.20336|0.20336	0.860000|0.860000|0.860000	0.49131|0.49131|0.49131	0.253000|0.253000|0.253000	0.18296|0.18296|0.18296	0.197000|0.197000|0.197000	0.20387|0.20387|0.20387	0.511000|0.511000|0.511000	0.50034|0.50034|0.50034	GAA|CAG|AGA		PASS	0.627	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		10	97	10	97	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7651770	7651770	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:7651770C>G	ENST00000359156.4	-	4	674	c.472G>C	c.(472-474)Gaa>Caa	p.E158Q	CD163_ENST00000432237.2_Missense_Mutation_p.E158Q|CD163_ENST00000541972.1_Missense_Mutation_p.E146Q|CD163_ENST00000396620.3_Missense_Mutation_p.E158Q	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	158					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.E158Q(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGCCTCATTTCCAAATTGGAT	0.413																																						uc001qsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(472-474)GAA>CAA		CD163 antigen isoform a							144.0	144.0	144.0					12																	7651770		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651770C>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.472G>C	12.37:g.7651770C>G	ENSP00000352071:p.Glu158Gln					CD163_uc001qta.3_Missense_Mutation_p.E158Q|CD163_uc009zfw.2_Missense_Mutation_p.E158Q	p.E158Q	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			4	600	-			158			Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.472G>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	7.015	0.557638	0.13436	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.43	3.53	0.40419	Speract/scavenger receptor-related (1);	0.952049	0.08721	N	0.903482	T	0.30541	0.0768	L	0.31578	0.945	0.09310	N	0.999998	D;B;D	0.56968	0.978;0.053;0.977	P;B;P	0.51945	0.685;0.052;0.685	T	0.08617	-1.0713	10	0.16420	T	0.52	.	8.8336	0.35098	0.0:0.8946:0.0:0.1054	.	158;158;158	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	Q	158;146;158;158	ENSP00000352071:E158Q;ENSP00000444071:E146Q;ENSP00000379863:E158Q;ENSP00000403885:E158Q	ENSP00000352071:E158Q	E	-	1	0	CD163	7543037	0.192000	0.23301	0.974000	0.42286	0.248000	0.25809	0.948000	0.29096	1.209000	0.43321	0.650000	0.86243	GAA		PASS	0.413	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		47	714	47	714	---	---	---	---
APOBEC1	339	broad.mit.edu	37	12	7803718	7803718	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:7803718C>A	ENST00000229304.4	-	4	482	c.462G>T	c.(460-462)agG>agT	p.R154S		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	154					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R154S(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGACAAAATTCCTCCAGCAGT	0.448																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)AGG>AGT		apolipoprotein B mRNA editing enzyme							113.0	102.0	106.0					12																	7803718		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7803718C>A	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.462G>T	12.37:g.7803718C>A	ENSP00000229304:p.Arg154Ser					APOBEC1_uc001qtc.2_Missense_Mutation_p.R109S|APOBEC1_uc010sgf.1_Missense_Mutation_p.R154S	p.R154S	NM_001644	NP_001635	P41238	ABEC1_HUMAN			4	496	-			154					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.462G>T	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597123	0.28445	.	.	ENSG00000111701	ENST00000229304	T	0.62232	0.04	4.9	2.02	0.26589	APOBEC-like, C-terminal (1);	0.367256	0.23118	N	0.051733	T	0.54431	0.1858	M	0.61703	1.905	0.26367	N	0.976952	P	0.43231	0.801	B	0.41374	0.355	T	0.44436	-0.9328	10	0.29301	T	0.29	-10.2906	7.4828	0.27415	0.0:0.7039:0.0:0.2961	.	154	P41238	ABEC1_HUMAN	S	154	ENSP00000229304:R154S	ENSP00000229304:R154S	R	-	3	2	APOBEC1	7694985	0.982000	0.34865	0.998000	0.56505	0.461000	0.32589	0.725000	0.25970	0.593000	0.29745	0.655000	0.94253	AGG		PASS	0.448	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		14	263	14	263	---	---	---	---
NECAP1	25977	broad.mit.edu	37	12	8248226	8248226	+	Missense_Mutation	SNP	C	C	A	rs201797163		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:8248226C>A	ENST00000339754.5	+	7	784	c.706C>A	c.(706-708)Cct>Act	p.P236T		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	236					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)		p.P236T(1)		cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TTCTCCTGCTCCTGTCACGAC	0.453																																						uc001qtx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(706-708)CCT>ACT		NECAP endocytosis associated 1							110.0	105.0	107.0					12																	8248226		2203	4300	6503	SO:0001583	missense	25977				endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		g.chr12:8248226C>A	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.706C>A	12.37:g.8248226C>A	ENSP00000341737:p.Pro236Thr					NECAP1_uc001qty.2_Missense_Mutation_p.P94T	p.P236T	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN		Kidney(36;0.0915)	7	784	+			236					Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Missense_Mutation	SNP	ENST00000339754.5	37	c.706C>A	CCDS8589.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713161	0.30413	.	.	ENSG00000089818	ENST00000545179;ENST00000339754;ENST00000540291;ENST00000540083	T;T	0.31510	1.57;1.49	4.31	4.31	0.51392	.	0.222231	0.39274	N	0.001401	T	0.25494	0.0620	L	0.40543	1.245	0.42273	D	0.992066	B	0.18166	0.026	B	0.18263	0.021	T	0.05068	-1.0908	10	0.35671	T	0.21	.	12.4949	0.55923	0.0:1.0:0.0:0.0	.	236	Q8NC96	NECP1_HUMAN	T	236;236;94;94	ENSP00000341737:P236T;ENSP00000439319:P94T	ENSP00000341737:P236T	P	+	1	0	NECAP1	8139493	0.855000	0.29742	0.893000	0.35052	0.891000	0.51852	1.243000	0.32767	2.387000	0.81309	0.585000	0.79938	CCT		PASS	0.453	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509		15	317	15	317	---	---	---	---
KLRB1	3820	broad.mit.edu	37	12	9747874	9747874	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:9747874G>C	ENST00000229402.3	-	6	720	c.674C>G	c.(673-675)tCt>tGt	p.S225C		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	225					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S225C(1)		endometrium(2)|large_intestine(6)|lung(4)	12						TCATAGTCAAGAGTCAGGATA	0.378																																						uc010sgt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(673-675)TCT>TGT		killer cell lectin-like receptor subfamily B,							163.0	148.0	153.0					12																	9747874		2203	4300	6503	SO:0001583	missense	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9747874G>C	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.674C>G	12.37:g.9747874G>C	ENSP00000229402:p.Ser225Cys						p.S225C	NM_002258	NP_002249	Q12918	KLRB1_HUMAN			6	736	-			225			Extracellular (Potential).		Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	c.674C>G	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	.	11.82	1.751596	0.31046	.	.	ENSG00000111796	ENST00000229402	T	0.02395	4.31	3.24	0.351	0.16042	.	.	.	.	.	T	0.04815	0.0130	L	0.38175	1.15	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.41215	-0.9521	9	0.87932	D	0	.	5.6555	0.17640	0.3768:0.0:0.6232:0.0	.	225	Q12918	KLRB1_HUMAN	C	225	ENSP00000229402:S225C	ENSP00000229402:S225C	S	-	2	0	KLRB1	9639141	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.515000	0.06290	0.068000	0.16574	0.655000	0.94253	TCT		PASS	0.378	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		30	323	30	323	---	---	---	---
KLRC1	3821	broad.mit.edu	37	12	10603638	10603638	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:10603638A>G	ENST00000359151.3	-	2	299	c.118T>C	c.(118-120)Tat>Cat	p.Y40H	KLRC1_ENST00000544822.1_Missense_Mutation_p.Y40H|KLRC1_ENST00000536188.1_Missense_Mutation_p.Y40H|KLRC1_ENST00000347831.5_Missense_Mutation_p.Y40H|KLRC1_ENST00000408006.3_Missense_Mutation_p.Y40H	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	40					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.Y40H(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						AATTCCGCATAGGTTATTTCC	0.378																																						uc001qyl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)TAT>CAT		killer cell lectin-like receptor subfamily C,							179.0	176.0	177.0					12																	10603638		2203	4300	6503	SO:0001583	missense	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10603638A>G	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.118T>C	12.37:g.10603638A>G	ENSP00000352064:p.Tyr40His					KLRC1_uc009zhm.1_Missense_Mutation_p.Y40H|KLRC1_uc001qym.2_Missense_Mutation_p.Y40H|KLRC1_uc001qyn.2_Missense_Mutation_p.Y40H|KLRC1_uc001qyo.2_Missense_Mutation_p.Y40H	p.Y40H	NM_002259	NP_002250	P26715	NKG2A_HUMAN			2	282	-			40			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000359151.3	37	c.118T>C	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883184	0.51908	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33	3.96	3.96	0.45880	.	0.000000	0.46758	D	0.000262	T	0.22003	0.0530	M	0.92077	3.27	0.09310	N	1	P;P	0.49862	0.929;0.919	P;P	0.52189	0.692;0.536	T	0.14811	-1.0459	10	0.66056	D	0.02	.	9.7808	0.40647	1.0:0.0:0.0:0.0	.	40;40	P26715-2;P26715	.;NKG2A_HUMAN	H	40	ENSP00000441432:Y40H;ENSP00000352064:Y40H;ENSP00000385304:Y40H;ENSP00000256965:Y40H;ENSP00000438038:Y40H	ENSP00000256965:Y40H	Y	-	1	0	KLRC1	10494905	0.025000	0.19082	0.010000	0.14722	0.074000	0.17049	0.798000	0.27014	1.737000	0.51674	0.533000	0.62120	TAT		PASS	0.378	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		49	473	49	473	---	---	---	---
TAS2R9	50835	broad.mit.edu	37	12	10961880	10961880	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:10961880C>G	ENST00000240691.2	-	1	887	c.795G>C	c.(793-795)atG>atC	p.M265I	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	265					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)	p.M265I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGTCACCAATCATCAACACTA	0.403																																						uc001qyx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(793-795)ATG>ATC		taste receptor, type 2, member 9							128.0	120.0	123.0					12																	10961880		2203	4300	6503	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10961880C>G	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.795G>C	12.37:g.10961880C>G	ENSP00000240691:p.Met265Ile					TAS2R8_uc010shh.1_5'Flank	p.M265I	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN			1	888	-			265			Helical; Name=7; (Potential).		Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.795G>C	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.587196	0.00872	.	.	ENSG00000121381	ENST00000240691	T	0.00686	5.85	4.31	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.664574	0.12894	U	0.430350	T	0.00524	0.0017	N	0.05487	-0.04	0.09310	N	1	B	0.18610	0.029	B	0.26094	0.066	T	0.43426	-0.9392	10	0.08381	T	0.77	.	7.4246	0.27092	0.0:0.6643:0.0:0.3357	.	265	Q9NYW1	TA2R9_HUMAN	I	265	ENSP00000240691:M265I	ENSP00000240691:M265I	M	-	3	0	TAS2R9	10853147	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	-3.450000	0.00466	0.499000	0.27970	-0.355000	0.07637	ATG		PASS	0.403	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			27	303	27	303	---	---	---	---
TAS2R19	259294	broad.mit.edu	37	12	11174300	11174300	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:11174300G>C	ENST00000390673.2	-	1	919	c.871C>G	c.(871-873)Ctt>Gtt	p.L291V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	291					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L291V(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AAAACTGAAAGAAAGGTCTGT	0.428																																						uc010shj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(871-873)CTT>GTT		taste receptor, type 2, member 19							99.0	93.0	95.0					12																	11174300		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174300G>C	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.871C>G	12.37:g.11174300G>C	ENSP00000375091:p.Leu291Val					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L291V	NM_176888	NP_795369	P59542	T2R19_HUMAN			1	871	-			291			Cytoplasmic (Potential).		Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.871C>G	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261990	0.23051	.	.	ENSG00000212124	ENST00000390673	T	0.38560	1.13	2.85	1.91	0.25777	.	1.388490	0.05403	N	0.541043	T	0.49949	0.1587	M	0.70842	2.15	0.09310	N	1	P	0.39551	0.678	P	0.45712	0.491	T	0.38243	-0.9670	10	0.49607	T	0.09	.	6.1336	0.20219	0.1563:0.0:0.8437:0.0	.	291	P59542	T2R19_HUMAN	V	291	ENSP00000375091:L291V	ENSP00000375091:L291V	L	-	1	0	TAS2R19	11065567	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-0.124000	0.10595	0.502000	0.28037	0.405000	0.27470	CTT		PASS	0.428	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		33	248	33	248	---	---	---	---
TAS2R19	259294	broad.mit.edu	37	12	11174553	11174553	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:11174553G>C	ENST00000390673.2	-	1	666	c.618C>G	c.(616-618)ctC>ctG	p.L206L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	206					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L206L(2)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GCATCTTCTTGAGATGTTTAC	0.413																																						uc010shj.1																			2	Substitution - coding silent(2)		cervix(1)|lung(1)	skin(1)	1						c.(616-618)CTC>CTG		taste receptor, type 2, member 19							142.0	141.0	141.0					12																	11174553		2203	4300	6503	SO:0001819	synonymous_variant	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174553G>C	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.618C>G	12.37:g.11174553G>C						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L206L	NM_176888	NP_795369	P59542	T2R19_HUMAN			1	618	-			206			Cytoplasmic (Potential).		Q3MIJ4|Q645X8	Silent	SNP	ENST00000390673.2	37	c.618C>G	CCDS8640.1																																																																																				PASS	0.413	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		18	544	18	544	---	---	---	---
ETV6	2120	broad.mit.edu	37	12	12006363	12006363	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:12006363G>A	ENST00000396373.4	+	4	605	c.331G>A	c.(331-333)Gat>Aat	p.D111N		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	111	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D111N(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTTTCCAGGTGATGTGCTCTA	0.453			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	1	Substitution - Missense(1)		lung(1)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(331-333)GAT>AAT		ets variant 6							158.0	151.0	154.0					12																	12006363		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12006363G>A	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.331G>A	12.37:g.12006363G>A	ENSP00000379658:p.Asp111Asn						p.D111N	NM_001987	NP_001978	P41212	ETV6_HUMAN			4	605	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	111			PNT.		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.331G>A	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922113	0.92319	.	.	ENSG00000139083	ENST00000396373	T	0.35236	1.32	5.67	5.67	0.87782	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64219	-0.6459	10	0.87932	D	0	.	19.3681	0.94473	0.0:0.0:1.0:0.0	.	111	P41212	ETV6_HUMAN	N	111	ENSP00000379658:D111N	ENSP00000379658:D111N	D	+	1	0	ETV6	11897630	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.574000	0.82434	2.677000	0.91161	0.655000	0.94253	GAT		PASS	0.453	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		33	416	33	416	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13906545	13906545	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:13906545T>A	ENST00000609686.1	-	3	925	c.716A>T	c.(715-717)tAc>tTc	p.Y239F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	239					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.Y239F(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCAAAGATGTAGGTGGCTTC	0.512																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(715-717)TAC>TTC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						124.0	124.0	124.0					12																	13906545		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906545T>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.716A>T	12.37:g.13906545T>A	ENSP00000477455:p.Tyr239Phe						p.Y239F	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			3	895	-			239			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.716A>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.488600	0.26686	.	.	ENSG00000150086	ENST00000279593	D	0.92397	-3.03	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.115028	0.64402	D	0.000010	D	0.87233	0.6126	L	0.35414	1.06	0.43164	D	0.994955	B	0.06786	0.001	B	0.12156	0.007	T	0.82900	-0.0228	10	0.15499	T	0.54	.	16.0091	0.80385	0.0:0.0:0.0:1.0	.	239	Q13224	NMDE2_HUMAN	F	239	ENSP00000279593:Y239F	ENSP00000279593:Y239F	Y	-	2	0	GRIN2B	13797812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.960000	0.63673	2.185000	0.69588	0.459000	0.35465	TAC		PASS	0.512	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			57	190	57	190	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14796593	14796593	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:14796593C>G	ENST00000261170.3	-	17	1981	c.1845G>C	c.(1843-1845)ctG>ctC	p.L615L		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	615	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.L615L(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGGTAGATTTCAGACGACCAT	0.398																																						uc001rcd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(1843-1845)CTG>CTC		guanylate cyclase 2C precursor							162.0	153.0	156.0					12																	14796593		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14796593C>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1845G>C	12.37:g.14796593C>G							p.L615L	NM_004963	NP_004954	P25092	GUC2C_HUMAN			17	1982	-			615			Cytoplasmic (Potential).|Protein kinase.		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.1845G>C	CCDS8664.1																																																																																				PASS	0.398	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			63	371	63	371	---	---	---	---
RERG	85004	broad.mit.edu	37	12	15262294	15262294	+	Missense_Mutation	SNP	C	C	G	rs375905826		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:15262294C>G	ENST00000256953.2	-	5	686	c.350G>C	c.(349-351)gGa>gCa	p.G117A	RERG_ENST00000546331.1_Missense_Mutation_p.G98A|RERG_ENST00000538313.1_Missense_Mutation_p.G117A|RERG_ENST00000536465.1_Missense_Mutation_p.G117A	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	117					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G117A(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						AGCTTTGTTTCCAACCAAGAT	0.473																																						uc001rcs.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(349-351)GGA>GCA		RAS-like, estrogen-regulated, growth inhibitor							256.0	236.0	243.0					12																	15262294		2203	4300	6503	SO:0001583	missense	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262294C>G	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.350G>C	12.37:g.15262294C>G	ENSP00000256953:p.Gly117Ala					RERG_uc001rct.2_Missense_Mutation_p.G117A|RERG_uc010shu.1_Missense_Mutation_p.G98A	p.G117A	NM_032918	NP_116307	Q96A58	RERG_HUMAN			4	490	-			117					B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	c.350G>C	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974216	0.74246	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84991	0.5595	L	0.28400	0.85	0.80722	D	1	D;P	0.53885	0.963;0.508	P;P	0.53035	0.6;0.716	D	0.85123	0.0970	10	0.44086	T	0.13	.	17.948	0.89045	0.0:1.0:0.0:0.0	.	98;117	B4DI02;Q96A58	.;RERG_HUMAN	A	117;117;117;98	ENSP00000256953:G117A;ENSP00000441505:G117A;ENSP00000438280:G117A;ENSP00000444485:G98A	ENSP00000256953:G117A	G	-	2	0	RERG	15153561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.654000	0.90174	0.655000	0.94253	GGA		PASS	0.473	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		58	362	58	362	---	---	---	---
CAPZA3	93661	broad.mit.edu	37	12	18889229	18889229	+	5'Flank	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:18889229G>T	ENST00000317658.3	+	0	0				PLCZ1_ENST00000266505.7_Missense_Mutation_p.L21I|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L19I|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L19I|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L21I	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.L21I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GTTTTTTCTAGGTTAATTTTT	0.338																																						uc010sid.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(61-63)CTA>ATA		phospholipase C, zeta 1							76.0	77.0	77.0					12																	18889229		2203	4300	6503	SO:0001631	upstream_gene_variant	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18889229G>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001		12.37:g.18889229G>T	Exception_encountered					PLCZ1_uc001rdv.3_5'UTR|PLCZ1_uc001rdw.3_5'UTR|CAPZA3_uc001rdy.2_5'Flank	p.L21I	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			3	252	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		21					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.61C>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450317	0.26074	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875;ENST00000539072	T;T;T;T;T	0.45276	0.9;0.9;1.73;1.73;0.9	5.5	1.23	0.21249	EF-hand-like domain (1);	0.714558	0.12570	N	0.457373	T	0.37705	0.1013	L	0.53249	1.67	0.09310	N	0.999999	B	0.23058	0.079	B	0.23716	0.048	T	0.30031	-0.9992	10	0.39692	T	0.17	.	10.9036	0.47067	0.083:0.4619:0.4551:0.0	.	21	Q86YW0	PLCZ1_HUMAN	I	21;19;19;21;41	ENSP00000266505:L21I;ENSP00000402358:L19I;ENSP00000400504:L19I;ENSP00000445026:L21I;ENSP00000438629:L41I	ENSP00000266505:L21I	L	-	1	2	PLCZ1	18780496	0.104000	0.21937	0.035000	0.18076	0.672000	0.39443	0.265000	0.18515	0.224000	0.20940	0.313000	0.20887	CTA		PASS	0.338	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		22	67	22	67	---	---	---	---
RASSF8	11228	broad.mit.edu	37	12	26217997	26217997	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:26217997G>C	ENST00000405154.2	+	3	869	c.670G>C	c.(670-672)Gaa>Caa	p.E224Q	RASSF8_ENST00000541490.1_Missense_Mutation_p.E224Q|RASSF8_ENST00000282884.9_Missense_Mutation_p.E224Q|RASSF8_ENST00000381352.3_Missense_Mutation_p.E224Q|RASSF8_ENST00000542865.1_Missense_Mutation_p.E224Q	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	224	Glu-rich.				signal transduction (GO:0007165)			p.E224Q(2)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TGAGGAGGAAGAATTCTGGGA	0.328																																						uc001rgx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(670-672)GAA>CAA		Ras association (RalGDS/AF-6) domain family							70.0	77.0	74.0					12																	26217997		2203	4300	6503	SO:0001583	missense	11228				signal transduction			g.chr12:26217997G>C	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.670G>C	12.37:g.26217997G>C	ENSP00000384491:p.Glu224Gln					RASSF8_uc001rgy.2_Missense_Mutation_p.E224Q|RASSF8_uc001rgz.2_Missense_Mutation_p.E224Q|RASSF8_uc009zjd.1_Missense_Mutation_p.E224Q|RASSF8_uc009zje.1_Missense_Mutation_p.E224Q	p.E224Q	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN			3	891	+	Colorectal(261;0.0847)		224			Glu-rich.		A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	ENST00000405154.2	37	c.670G>C	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009961	0.75046	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000282884	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.0	5.0	0.66597	.	0.112663	0.64402	D	0.000004	D	0.94003	0.8079	L	0.50333	1.59	0.54753	D	0.999988	D;D	0.71674	0.974;0.998	P;D	0.75484	0.719;0.986	D	0.91217	0.5003	10	0.13108	T	0.6	-24.1521	17.6865	0.88257	0.0:0.0:1.0:0.0	.	224;224	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	Q	224	ENSP00000370756:E224Q;ENSP00000384491:E224Q;ENSP00000439839:E224Q;ENSP00000443096:E224Q;ENSP00000282884:E224Q	ENSP00000282884:E224Q	E	+	1	0	RASSF8	26109264	1.000000	0.71417	0.985000	0.45067	0.896000	0.52359	9.417000	0.97391	2.498000	0.84270	0.563000	0.77884	GAA		PASS	0.328	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		19	146	19	146	---	---	---	---
TM7SF3	51768	broad.mit.edu	37	12	27135731	27135731	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:27135731G>C	ENST00000343028.4	-	7	1155	c.930C>G	c.(928-930)ttC>ttG	p.F310L	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	310	Phe-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F310L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGTGTCCAAAGAAACAAATGA	0.368																																						uc010sjl.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)	2						c.(928-930)TTC>TTG		transmembrane 7 superfamily member 3 precursor							77.0	80.0	79.0					12																	27135731		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27135731G>C	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.930C>G	12.37:g.27135731G>C	ENSP00000342322:p.Phe310Leu						p.F310L	NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN			7	1168	-	Colorectal(261;0.0847)		310			Phe-rich.|Helical; (Potential).		B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.930C>G	CCDS8710.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.03|18.03	3.531318|3.531318	0.64972|0.64972	.|.	.|.	ENSG00000064115|ENSG00000064115	ENST00000343028;ENST00000543655;ENST00000535819|ENST00000545303	T;T;T|.	0.41758|.	1.32;0.99;0.99|.	5.21|5.21	3.39|3.39	0.38822|0.38822	.|.	0.046312|.	0.85682|.	D|.	0.000000|.	T|T	0.64962|0.64962	0.2646|0.2646	M|M	0.71581|0.71581	2.175|2.175	0.49687|0.49687	D|D	0.999817|0.999817	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.62378|0.62378	-0.6867|-0.6867	10|5	0.44086|.	T|.	0.13|.	-17.5639|-17.5639	9.9899|9.9899	0.41865|0.41865	0.2376:0.0:0.7624:0.0|0.2376:0.0:0.7624:0.0	.|.	310|.	Q9NS93|.	TM7S3_HUMAN|.	L|C	310;101;101|91	ENSP00000342322:F310L;ENSP00000441924:F101L;ENSP00000445156:F101L|.	ENSP00000342322:F310L|.	F|S	-|-	3|2	2|0	TM7SF3|TM7SF3	27026998|27026998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.311000|2.311000	0.43717|0.43717	0.710000|0.710000	0.31997|0.31997	0.591000|0.591000	0.81541|0.81541	TTC|TCT		PASS	0.368	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		7	40	7	40	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29639178	29639178	+	Splice_Site	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:29639178C>G	ENST00000318184.5	-	8	995		c.e8+1		OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.?(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TAGAACCACACATACCCTTTC	0.428																																						uc001rix.1																			1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.e8+1		ovochymase 1 precursor							93.0	88.0	89.0					12																	29639178		1849	4098	5947	SO:0001630	splice_region_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29639178C>G	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.995+1G>C	12.37:g.29639178C>G							p.I332_splice	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			8	995	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)								Splice_Site	SNP	ENST00000318184.5	37	c.995_splice		.	.	.	.	.	.	.	.	.	.	C	3.601	-0.081588	0.07141	.	.	ENSG00000187950	ENST00000318184	.	.	.	1.94	1.02	0.19986	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.999927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2497	0.10689	0.0:0.7911:0.0:0.2089	.	.	.	.	.	-1	.	.	.	-	.	.	OVCH1	29530445	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.230000	0.17852	0.359000	0.24239	0.563000	0.77884	.		PASS	0.428	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	Intron	19	128	19	128	---	---	---	---
PKP2	5318	broad.mit.edu	37	12	32945394	32945394	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:32945394G>T	ENST00000070846.6	-	14	2634	c.2610C>A	c.(2608-2610)agC>agA	p.S870R	PKP2_ENST00000340811.4_Missense_Mutation_p.S826R	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	870					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.S870R(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGCAGTCCGGCTGTTGACAA	0.398																																						uc001rlj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2608-2610)AGC>AGA		plakophilin 2 isoform 2b							128.0	122.0	124.0					12																	32945394		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32945394G>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2610C>A	12.37:g.32945394G>T	ENSP00000070846:p.Ser870Arg					PKP2_uc001rlk.3_Missense_Mutation_p.S826R|PKP2_uc010skj.1_Missense_Mutation_p.S823R	p.S870R	NM_004572	NP_004563	Q99959	PKP2_HUMAN			14	2725	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		870					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.2610C>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621007	0.46736	.	.	ENSG00000057294	ENST00000340811;ENST00000070846	T;T	0.81247	-1.47;-1.39	5.12	3.98	0.46160	.	0.329390	0.31963	N	0.006782	T	0.75117	0.3806	L	0.50333	1.59	0.28542	N	0.912073	P;P;P	0.49090	0.919;0.868;0.893	B;B;B	0.42422	0.316;0.168;0.387	T	0.74191	-0.3745	10	0.62326	D	0.03	-9.6761	11.0888	0.48104	0.1285:0.0:0.8715:0.0	.	826;826;870	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	R	826;870	ENSP00000342800:S826R;ENSP00000070846:S870R	ENSP00000070846:S870R	S	-	3	2	PKP2	32836661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.328000	0.43867	2.536000	0.85505	0.655000	0.94253	AGC		PASS	0.398	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		43	123	43	123	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40158639	40158639	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:40158639G>C	ENST00000280871.4	-	8	1517	c.1467C>G	c.(1465-1467)ttC>ttG	p.F489L		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	489					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.F470L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CTTCTGTTTTGAACTTGGTTT	0.328										HNSCC(50;0.14)																												uc010skm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1465-1467)TTC>TTG		solute carrier family 2 (facilitated glucose							108.0	123.0	118.0					12																	40158639		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40158639G>C	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1467C>G	12.37:g.40158639G>C	ENSP00000280871:p.Phe489Leu	HNSCC(50;0.14)				C12orf40_uc009zjv.1_Intron	p.F489L	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			8	1518	-		Lung NSC(34;0.105)|all_lung(34;0.123)	489			Extracellular (Potential).		Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1467C>G	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	8.706	0.910892	0.17833	.	.	ENSG00000151229	ENST00000280871	T	0.80738	-1.41	5.12	2.31	0.28768	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.462454	0.23569	N	0.046772	T	0.64023	0.2561	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49204	-0.8964	10	0.10902	T	0.67	-14.5343	10.2552	0.43392	0.2149:0.0:0.7851:0.0	.	489	Q96QE2	MYCT_HUMAN	L	489	ENSP00000280871:F489L	ENSP00000280871:F489L	F	-	3	2	SLC2A13	38444906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.316000	0.43761	0.198000	0.20407	0.650000	0.86243	TTC		PASS	0.328	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			9	90	9	90	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40637414	40637414	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:40637414A>G	ENST00000298910.7	+	7	827	c.769A>G	c.(769-771)Atg>Gtg	p.M257V	LRRK2_ENST00000343742.2_Missense_Mutation_p.M257V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	257					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.M257V(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTGGAAGCTATGAAAGCATT	0.363																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(769-771)ATG>GTG		leucine-rich repeat kinase 2							191.0	177.0	182.0					12																	40637414		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40637414A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.769A>G	12.37:g.40637414A>G	ENSP00000298910:p.Met257Val						p.M257V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			7	890	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	257					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.769A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.893962	0.72639	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.64260	-0.09;1.36;1.36	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	L	0.59436	1.845	0.46131	D	0.998883	D	0.59767	0.986	D	0.70227	0.968	T	0.76558	-0.2915	10	0.54805	T	0.06	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	257	Q5S007	LRRK2_HUMAN	V	141;257;257	ENSP00000398726:M141V;ENSP00000341930:M257V;ENSP00000298910:M257V	ENSP00000298910:M257V	M	+	1	0	LRRK2	38923681	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.938000	0.70170	2.282000	0.76494	0.533000	0.62120	ATG		PASS	0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		39	219	39	219	---	---	---	---
PUS7L	83448	broad.mit.edu	37	12	44148331	44148331	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:44148331C>A	ENST00000416848.2	-	2	1206	c.718G>T	c.(718-720)Gac>Tac	p.D240Y	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.D240Y|PUS7L_ENST00000551923.1_Missense_Mutation_p.D240Y|PUS7L_ENST00000344862.5_Missense_Mutation_p.D240Y	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	240					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.D240Y(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTTCTGTGGTCTTTGTTTGTA	0.328																																						uc001rnq.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(718-720)GAC>TAC		pseudouridylate synthase 7 homolog (S.							107.0	105.0	106.0					12																	44148331		2201	4299	6500	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148331C>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.718G>T	12.37:g.44148331C>A	ENSP00000415899:p.Asp240Tyr					PUS7L_uc001rnr.3_Missense_Mutation_p.D240Y|PUS7L_uc001rns.3_Missense_Mutation_p.D240Y|PUS7L_uc009zkb.2_Intron	p.D240Y	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1207	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	240					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.718G>T	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284243	0.59867	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.25749	1.81;1.81;1.81;1.78	5.35	4.46	0.54185	Pseudouridine synthase, catalytic domain (1);	0.249919	0.45606	D	0.000345	T	0.15739	0.0379	N	0.14661	0.345	0.80722	D	1	P	0.44195	0.828	B	0.36885	0.235	T	0.06338	-1.0832	10	0.72032	D	0.01	-4.4217	14.8028	0.69929	0.0:0.9296:0.0:0.0704	.	240	Q9H0K6	PUS7L_HUMAN	Y	240	ENSP00000415899:D240Y;ENSP00000343081:D240Y;ENSP00000447706:D240Y;ENSP00000446865:D240Y	ENSP00000343081:D240Y	D	-	1	0	PUS7L	42434598	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.465000	0.66725	1.591000	0.50007	0.655000	0.94253	GAC		PASS	0.328	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		32	187	32	187	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	44913929	44913929	+	Silent	SNP	C	C	A	rs139052675	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:44913929C>A	ENST00000429094.2	-	19	2763	c.2259G>T	c.(2257-2259)ccG>ccT	p.P753P	NELL2_ENST00000452445.2_Silent_p.P753P|NELL2_ENST00000395487.2_Silent_p.P752P|NELL2_ENST00000333837.4_Silent_p.P776P|NELL2_ENST00000551601.1_Silent_p.P705P|NELL2_ENST00000437801.2_Silent_p.P803P|NELL2_ENST00000549027.1_Silent_p.P752P	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	753	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.P803P(1)|p.P753P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGACACAGCGCGGGCAGCACT	0.537																																						uc001rog.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(2257-2259)CCG>CCT		NEL-like protein 2 isoform b precursor							94.0	78.0	83.0					12																	44913929		2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44913929C>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2259G>T	12.37:g.44913929C>A						NELL2_uc001rof.3_Silent_p.P752P|NELL2_uc001roh.2_Silent_p.P753P|NELL2_uc009zkd.2_Silent_p.P705P|NELL2_uc010skz.1_Silent_p.P803P|NELL2_uc010sla.1_Silent_p.P776P	p.P753P	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	19	2854	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	753			VWFC 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.2259G>T	CCDS8746.1																																																																																				PASS	0.537	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		6	52	6	52	---	---	---	---
ANO6	196527	broad.mit.edu	37	12	45744461	45744461	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:45744461C>G	ENST00000320560.8	+	7	969	c.767C>G	c.(766-768)tCa>tGa	p.S256*	ANO6_ENST00000425752.2_Nonsense_Mutation_p.S256*|ANO6_ENST00000423947.3_Nonsense_Mutation_p.S277*|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Nonsense_Mutation_p.S238*|ANO6_ENST00000435642.1_Nonsense_Mutation_p.S256*	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	256					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.S256*(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CGCCGTCAGTCAGAGGATCCC	0.443																																						uc001roo.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(766-768)TCA>TGA		anoctamin 6 isoform a							122.0	96.0	105.0					12																	45744461		2203	4300	6503	SO:0001587	stop_gained	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45744461C>G	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.767C>G	12.37:g.45744461C>G	ENSP00000320087:p.Ser256*					ANO6_uc010sld.1_Nonsense_Mutation_p.S256*|ANO6_uc010sle.1_Nonsense_Mutation_p.S256*|ANO6_uc010slf.1_Nonsense_Mutation_p.S277*|ANO6_uc010slg.1_Nonsense_Mutation_p.S238*	p.S256*	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			7	1102	+			256			Cytoplasmic (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Nonsense_Mutation	SNP	ENST00000320560.8	37	c.767C>G	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	39	7.668842	0.98422	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	.	.	.	4.91	4.91	0.64330	.	0.157296	0.48767	D	0.000169	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	18.9912	0.92793	0.0:1.0:0.0:0.0	.	.	.	.	X	256;277;256;256;238	.	ENSP00000320087:S256X	S	+	2	0	ANO6	44030728	1.000000	0.71417	0.391000	0.26233	0.329000	0.28539	5.740000	0.68629	2.654000	0.90174	0.650000	0.86243	TCA		PASS	0.443	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		7	46	7	46	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46231199	46231199	+	Splice_Site	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:46231199A>C	ENST00000334344.6	+	9	1291	c.1119A>C	c.(1117-1119)agA>agC	p.R373S	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Splice_Site_p.R2S|ARID2_ENST00000422737.1_Splice_Site_p.R224S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	373					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.R373S(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TAAAGATGAGAGGTGAGTTTT	0.308			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(1117-1119)AGA>AGC		AT rich interactive domain 2 (ARID, RFX-like)							67.0	72.0	70.0					12																	46231199		2202	4296	6498	SO:0001630	splice_region_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46231199A>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1120+1A>C	12.37:g.46231199A>C						ARID2_uc001ror.2_Missense_Mutation_p.R373S|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.R19S|ARID2_uc001rot.1_Missense_Mutation_p.R19S	p.R373S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	9	1119	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	373					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1119A>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002056	0.35320	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T;T	0.46819	0.86;0.86	5.33	2.01	0.26516	.	0.093072	0.64402	D	0.000001	T	0.48732	0.1516	L	0.28694	0.88	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.993	D;D;D	0.80764	0.994;0.974;0.977	T	0.34030	-0.9845	10	0.11182	T	0.66	0.007	10.5024	0.44813	0.3311:0.0:0.6689:0.0	.	373;224;373	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	S	373;224;2	ENSP00000335044:R373S;ENSP00000415650:R224S	ENSP00000335044:R373S	R	+	3	2	ARID2	44517466	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.458000	0.35223	0.612000	0.30071	0.260000	0.18958	AGA		PASS	0.308	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	Missense_Mutation	65	137	65	137	---	---	---	---
PCED1B	91523	broad.mit.edu	37	12	47629398	47629398	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:47629398G>C	ENST00000546455.1	+	4	1283	c.552G>C	c.(550-552)caG>caC	p.Q184H	PCED1B_ENST00000432328.1_Missense_Mutation_p.Q184H|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	184							hydrolase activity (GO:0016787)	p.Q184H(1)									TCCGGCGGCAGAAGGCCACCT	0.582																																						uc001rpn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(550-552)CAG>CAC		hypothetical protein LOC91523							31.0	27.0	28.0					12																	47629398		2203	4299	6502	SO:0001583	missense	91523						hydrolase activity	g.chr12:47629398G>C	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.552G>C	12.37:g.47629398G>C	ENSP00000446688:p.Gln184His					FAM113B_uc010slj.1_Missense_Mutation_p.Q64H|FAM113B_uc001rpq.2_Missense_Mutation_p.Q184H	p.Q184H	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	1283	+	Renal(347;0.138)|Lung SC(27;0.192)		184					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.552G>C	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	9.695	1.153015	0.21371	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T;T	0.17691	2.26;2.26;2.26	3.9	-7.8	0.01214	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	5.352410	0.00465	N	0.000103	T	0.10551	0.0258	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.18871	0.023	T	0.20505	-1.0273	10	0.44086	T	0.13	0.1418	11.0793	0.48051	0.0:0.5375:0.161:0.3015	.	184	Q96HM7	F113B_HUMAN	H	184;184;64;64	ENSP00000446688:Q184H;ENSP00000396040:Q184H;ENSP00000448693:Q64H	ENSP00000328560:Q64H	Q	+	3	2	FAM113B	45915665	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.516000	0.06282	-1.852000	0.01166	-0.305000	0.09177	CAG		PASS	0.582	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		3	54	3	54	---	---	---	---
WNT1	7471	broad.mit.edu	37	12	49375060	49375060	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:49375060C>A	ENST00000293549.3	+	4	786	c.750C>A	c.(748-750)ttC>ttA	p.F250L		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	250					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|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)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)	p.F250L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		GCGACCGCTTCGACGGCGCCT	0.726																																						uc001rsu.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(748-750)TTC>TTA		wingless-type MMTV integration site family,							12.0	12.0	12.0					12																	49375060		2196	4281	6477	SO:0001583	missense	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49375060C>A	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.750C>A	12.37:g.49375060C>A	ENSP00000293549:p.Phe250Leu						p.F250L	NM_005430	NP_005421	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	4	948	+			250					Q5U0N2	Missense_Mutation	SNP	ENST00000293549.3	37	c.750C>A	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874545	0.72180	.	.	ENSG00000125084	ENST00000293549;ENST00000380414	T	0.80653	-1.4	4.3	0.436	0.16549	.	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	M	0.87758	2.905	0.53688	D	0.999978	D	0.89917	1.0	D	0.87578	0.998	D	0.86355	0.1713	10	0.87932	D	0	.	8.0133	0.30365	0.0:0.5587:0.0:0.4413	.	250	P04628	WNT1_HUMAN	L	250;86	ENSP00000293549:F250L	ENSP00000293549:F250L	F	+	3	2	WNT1	47661327	0.681000	0.27614	0.999000	0.59377	0.854000	0.48673	-0.097000	0.11042	0.205000	0.20568	-0.258000	0.10820	TTC		PASS	0.726	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			3	11	3	11	---	---	---	---
AQP6	363	broad.mit.edu	37	12	50368169	50368169	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:50368169G>A	ENST00000315520.5	+	2	802	c.465G>A	c.(463-465)ctG>ctA	p.L155L	AQP6_ENST00000551733.1_De_novo_Start_InFrame	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	155					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)	p.L155L(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CCCTGCAGCTGGTGCTCTGTG	0.617											OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rvr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(463-465)CTG>CTA		aquaporin 6							96.0	85.0	89.0					12																	50368169		2203	4300	6503	SO:0001819	synonymous_variant	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50368169G>A	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.465G>A	12.37:g.50368169G>A			OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	969	AQP6_uc001rvp.1_5'UTR|AQP6_uc001rvq.1_RNA	p.L155L	NM_001652	NP_001643	Q13520	AQP6_HUMAN			2	802	+			155			Helical; (Potential).			Silent	SNP	ENST00000315520.5	37	c.465G>A	CCDS31798.1																																																																																				PASS	0.617	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		8	66	8	66	---	---	---	---
AQP6	363	broad.mit.edu	37	12	50369453	50369453	+	Nonstop_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:50369453G>C	ENST00000315520.5	+	4	1185	c.848G>C	c.(847-849)tGa>tCa	p.*283S	AQP6_ENST00000551733.1_Nonstop_Mutation_p.*109S	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	0					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)	p.*283S(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GAGAGTGTGTGAAACAGCCTA	0.672																																						uc001rvr.1																			1	Nonstop extension(1)		lung(1)		0						c.(847-849)TGA>TCA		aquaporin 6							18.0	21.0	20.0					12																	50369453		2198	4292	6490	SO:0001578	stop_lost	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50369453G>C	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.848G>C	12.37:g.50369453G>C	ENSP00000320247:p.*283Serext*35					AQP6_uc001rvp.1_Nonstop_Mutation_p.*109S|AQP6_uc001rvq.1_RNA	p.*283S	NM_001652	NP_001643	Q13520	AQP6_HUMAN			4	1185	+			283						Nonstop_Mutation	SNP	ENST00000315520.5	37	c.848G>C	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706317	0.30232	.	.	ENSG00000086159	ENST00000551733;ENST00000315520	.	.	.	3.78	1.9	0.25705	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3947	0.16263	0.1208:0.2532:0.6259:0.0	.	.	.	.	S	109;283	.	.	X	+	2	2	AQP6	48655720	0.424000	0.25490	0.176000	0.23000	0.292000	0.27327	0.927000	0.28818	0.536000	0.28733	0.557000	0.71058	TGA		PASS	0.672	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		3	20	3	20	---	---	---	---
METTL7A	25840	broad.mit.edu	37	12	51319290	51319290	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:51319290C>T	ENST00000548553.1	+	2	1450	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	METTL7A_ENST00000332160.4_Missense_Mutation_p.L157F			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	157						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)	p.L157F(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						GGAGCGGATTCTCCGCGAGGT	0.562																																						uc001rxb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)CTC>TTC		methyltransferase like 7A precursor							43.0	39.0	40.0					12																	51319290		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51319290C>T		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.469C>T	12.37:g.51319290C>T	ENSP00000448785:p.Leu157Phe					METTL7A_uc010smv.1_Intron	p.L157F	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN			1	757	+			157					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.469C>T	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295760	0.60086	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160	T;T;T	0.29655	1.56;3.2;1.56	5.55	4.61	0.57282	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.75777	2.31	0.80722	D	1	D	0.64830	0.994	D	0.70016	0.967	T	0.58042	-0.7706	10	0.72032	D	0.01	-11.6379	15.5611	0.76249	0.1376:0.8624:0.0:0.0	.	157	Q9H8H3	MET7A_HUMAN	F	157	ENSP00000448785:L157F;ENSP00000450239:L157F;ENSP00000331787:L157F	ENSP00000331787:L157F	L	+	1	0	METTL7A	49605557	0.772000	0.28567	0.172000	0.22920	0.067000	0.16453	1.511000	0.35801	2.785000	0.95823	0.591000	0.81541	CTC		PASS	0.562	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033		9	45	9	45	---	---	---	---
TFCP2	7024	broad.mit.edu	37	12	51495742	51495742	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:51495742C>G	ENST00000257915.5	-	11	1585	c.1127G>C	c.(1126-1128)aGa>aCa	p.R376T	TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000307660.4_Missense_Mutation_p.R325T|TFCP2_ENST00000548115.1_Missense_Mutation_p.R325T	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	376	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G374fs*6(1)|p.R376T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ATTAAAAAGTCTGATTCCATC	0.343																																						uc001rxw.2																			2	Substitution - Missense(1)|Deletion - Frameshift(1)		large_intestine(1)|lung(1)	ovary(1)	1						c.(1126-1128)AGA>ACA		transcription factor CP2							72.0	74.0	73.0					12																	51495742		2203	4299	6502	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51495742C>G	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1127G>C	12.37:g.51495742C>G	ENSP00000257915:p.Arg376Thr					TFCP2_uc001rxv.1_Missense_Mutation_p.R376T|TFCP2_uc009zlx.1_Missense_Mutation_p.R325T|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Missense_Mutation_p.R278T	p.R376T	NM_005653	NP_005644	Q12800	TFCP2_HUMAN			11	1586	-			376			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.1127G>C	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802373	0.90538	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000548115;ENST00000548108	T;T;T;T	0.63096	1.49;-0.01;-0.02;1.48	5.09	5.09	0.68999	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	M	0.84846	2.72	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.997;0.984	D;D;P	0.80764	0.994;0.947;0.833	T	0.82289	-0.0531	10	0.49607	T	0.09	-19.7084	17.7941	0.88564	0.0:1.0:0.0:0.0	.	325;376;376	Q12800-2;Q12800;Q12800-4	.;TFCP2_HUMAN;.	T	376;325;325;278	ENSP00000257915:R376T;ENSP00000304411:R325T;ENSP00000447991:R325T;ENSP00000449280:R278T	ENSP00000257915:R376T	R	-	2	0	TFCP2	49782009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.576000	0.82467	2.816000	0.96949	0.563000	0.77884	AGA		PASS	0.343	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		18	151	18	151	---	---	---	---
KRT77	374454	broad.mit.edu	37	12	53086361	53086361	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:53086361G>T	ENST00000341809.3	-	7	1299	c.1271C>A	c.(1270-1272)gCg>gAg	p.A424E	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.A191E	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	424	Coil 2.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.A424E(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTTCTGCCACGCATCCTGGAG	0.592																																						uc001saw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1270-1272)GCG>GAG		keratin 77							46.0	42.0	43.0					12																	53086361		2202	4268	6470	SO:0001583	missense	374454					keratin filament	structural molecule activity	g.chr12:53086361G>T	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1271C>A	12.37:g.53086361G>T	ENSP00000342710:p.Ala424Glu					KRT77_uc009zmi.2_Missense_Mutation_p.A182E	p.A424E	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN			7	1300	-			424			Rod.|Coil 2.		Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	c.1271C>A	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193247	0.58017	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	T;D	0.89552	-0.9;-2.53	4.29	4.29	0.51040	Filament (1);	.	.	.	.	D	0.96842	0.8969	H	0.98426	4.23	0.48236	D	0.999616	D	0.89917	1.0	D	0.91635	0.999	D	0.98977	1.0803	9	0.87932	D	0	.	17.1115	0.86676	0.0:0.0:1.0:0.0	.	424	Q7Z794	K2C1B_HUMAN	E	424;191	ENSP00000342710:A424E;ENSP00000440803:A191E	ENSP00000342710:A424E	A	-	2	0	KRT77	51372628	1.000000	0.71417	0.078000	0.20375	0.007000	0.05969	9.835000	0.99442	2.103000	0.63969	0.407000	0.27541	GCG		PASS	0.592	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		25	56	25	56	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53879117	53879117	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:53879117C>G	ENST00000267079.2	-	6	1090	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	MAP3K12_ENST00000547035.1_Missense_Mutation_p.E322Q|MAP3K12_ENST00000547488.1_Missense_Mutation_p.E322Q|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.E322Q(1)|p.E289Q(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCGACCTTCTCAGACACAGGT	0.552																																						uc001sdm.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(865-867)GAG>CAG		mitogen-activated protein kinase kinase kinase							132.0	124.0	127.0					12																	53879117		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53879117C>G	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.865G>C	12.37:g.53879117C>G	ENSP00000267079:p.Glu289Gln					MAP3K12_uc001sdn.1_Missense_Mutation_p.E322Q	p.E289Q	NM_006301	NP_006292	Q12852	M3K12_HUMAN			6	963	-			289			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.865G>C	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872626	0.91587	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.82893	-1.66;-1.66;-1.66	5.12	5.12	0.69794	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000412	D	0.89171	0.6639	L	0.53729	1.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.982;0.99	D	0.89441	0.3723	10	0.56958	D	0.05	.	17.7178	0.88342	0.0:1.0:0.0:0.0	.	322;289	G3V1Y2;Q12852	.;M3K12_HUMAN	Q	289;322;322	ENSP00000267079:E289Q;ENSP00000449038:E322Q;ENSP00000448689:E322Q	ENSP00000267079:E289Q	E	-	1	0	MAP3K12	52165384	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.573000	0.86826	0.561000	0.74099	GAG		PASS	0.552	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		7	283	7	283	---	---	---	---
HOXC10	3226	broad.mit.edu	37	12	54379177	54379177	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:54379177G>A	ENST00000303460.4	+	1	208	c.134G>A	c.(133-135)aGg>aAg	p.R45K	HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000514702.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000567780.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	45					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R45K(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GGGGTGATGAGGGGCTGCGGG	0.662																																						uc001sen.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(133-135)AGG>AAG		homeobox C10							36.0	42.0	40.0					12																	54379177		2203	4300	6503	SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379177G>A		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.134G>A	12.37:g.54379177G>A	ENSP00000307321:p.Arg45Lys						p.R45K	NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN			1	232	+			45					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.134G>A	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972130	0.53614	.	.	ENSG00000180818	ENST00000303460	T	0.28069	1.63	4.08	3.16	0.36331	.	0.181406	0.48286	D	0.000196	T	0.48447	0.1500	M	0.74258	2.255	0.34174	D	0.67011	P	0.38711	0.643	P	0.54210	0.745	T	0.61143	-0.7122	10	0.36615	T	0.2	.	12.208	0.54363	0.0:0.0:0.8278:0.1722	.	45	Q9NYD6	HXC10_HUMAN	K	45	ENSP00000307321:R45K	ENSP00000307321:R45K	R	+	2	0	HOXC10	52665444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.879000	0.56138	1.039000	0.40074	0.549000	0.68633	AGG		PASS	0.662	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			14	89	14	89	---	---	---	---
ANKRD52	283373	broad.mit.edu	37	12	56637078	56637078	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:56637078C>T	ENST00000267116.7	-	28	3200	c.3079G>A	c.(3079-3081)Gtc>Atc	p.V1027I	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	1027								p.V1027I(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AAAGGACTGACGGCGTCCTTG	0.627																																						uc001skm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3079-3081)GTC>ATC		ankyrin repeat domain 52							44.0	46.0	45.0					12																	56637078		2036	4158	6194	SO:0001583	missense	283373						protein binding	g.chr12:56637078C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.3079G>A	12.37:g.56637078C>T	ENSP00000267116:p.Val1027Ile						p.V1027I	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			28	3169	-			1027					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.3079G>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.476735	0.01035	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.63744	-0.06	4.07	4.07	0.47477	Ankyrin repeat-containing domain (1);	0.513392	0.20387	N	0.093333	T	0.35624	0.0938	N	0.08118	0	0.31985	N	0.605342	B	0.06786	0.001	B	0.04013	0.001	T	0.31752	-0.9932	10	0.21014	T	0.42	.	6.3678	0.21465	0.0:0.7965:0.0:0.2035	.	1027	Q8NB46	ANR52_HUMAN	I	1027	ENSP00000267116:V1027I	ENSP00000267116:V1027I	V	-	1	0	ANKRD52	54923345	0.997000	0.39634	0.999000	0.59377	0.024000	0.10985	0.573000	0.23699	2.293000	0.77203	0.555000	0.69702	GTC		PASS	0.627	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		10	33	10	33	---	---	---	---
STAT6	6778	broad.mit.edu	37	12	57490445	57490445	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:57490445C>G	ENST00000300134.3	-	22	2779	c.2454G>C	c.(2452-2454)ttG>ttC	p.L818F	STAT6_ENST00000543873.2_Missense_Mutation_p.L818F|STAT6_ENST00000556155.1_Missense_Mutation_p.L818F|STAT6_ENST00000454075.3_Missense_Mutation_p.L818F|STAT6_ENST00000538913.2_Missense_Mutation_p.L708F|STAT6_ENST00000537215.2_Missense_Mutation_p.L708F	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	818					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L818F(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCTGTGCCCCCAAGGACCCTC	0.607																																						uc009zpe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2452-2454)TTG>TTC		signal transducer and activator of transcription							50.0	53.0	52.0					12																	57490445		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57490445C>G	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2454G>C	12.37:g.57490445C>G	ENSP00000300134:p.Leu818Phe					STAT6_uc009zpf.2_Missense_Mutation_p.L818F|STAT6_uc001sna.2_Missense_Mutation_p.L818F|STAT6_uc010srb.1_Missense_Mutation_p.L708F|STAT6_uc010src.1_Missense_Mutation_p.L708F|STAT6_uc010srd.1_Missense_Mutation_p.L708F|STAT6_uc009zpg.2_Missense_Mutation_p.L867F	p.L818F	NM_003153	NP_003144	P42226	STAT6_HUMAN			22	2705	-			818					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.2454G>C	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.83|11.83	1.756488|1.756488	0.31137|0.31137	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000542721|ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721	.|D;D;D;D;D;D	.|0.94092	.|-3.07;-3.35;-3.07;-3.07;-3.35;-3.07	4.78|4.78	1.95|1.95	0.26073|0.26073	.|.	.|0.643074	.|0.12908	.|N	.|0.429178	.|D	.|0.84437	.|0.5472	N|N	0.19112|0.19112	0.55|0.55	0.23872|0.23872	N|N	0.996604|0.996604	.|P;B	.|0.38195	.|0.622;0.435	.|B;B	.|0.32393	.|0.145;0.088	.|T	.|0.76000	.|-0.3119	.|10	.|0.72032	.|D	.|0.01	.|-2.6849	6.0425|6.0425	0.19742|0.19742	0.0:0.6718:0.0:0.3282|0.0:0.6718:0.0:0.3282	.|.	.|818;818	.|A8K4S9;P42226	.|.;STAT6_HUMAN	.|F	-1|818;708;708;818;818;708;818;708	.|ENSP00000300134:L818F;ENSP00000445409:L708F;ENSP00000438451:L818F;ENSP00000451742:L818F;ENSP00000444530:L708F;ENSP00000401486:L818F	.|ENSP00000300134:L818F	.|L	-|-	.|3	.|2	STAT6|STAT6	55776712|55776712	0.583000|0.583000	0.26757|0.26757	0.942000|0.942000	0.38095|0.38095	0.698000|0.698000	0.40448|0.40448	0.434000|0.434000	0.21494|0.21494	0.232000|0.232000	0.21100|0.21100	0.561000|0.561000	0.74099|0.74099	.|TTG		PASS	0.607	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		13	88	13	88	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57857804	57857804	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:57857804C>A	ENST00000228682.2	+	3	214	c.123C>A	c.(121-123)tgC>tgA	p.C41*	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	41					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.C41*(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGCCCTTCTGCCACCAAGCTA	0.552																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2																			1	Substitution - Nonsense(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(121-123)TGC>TGA		GLI family zinc finger 1 isoform 1							170.0	171.0	171.0					12																	57857804		2203	4300	6503	SO:0001587	stop_gained	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57857804C>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.123C>A	12.37:g.57857804C>A	ENSP00000228682:p.Cys41*					GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_Intron|GLI1_uc009zpr.1_Intron	p.C41*	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		3	201	+			41					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Nonsense_Mutation	SNP	ENST00000228682.2	37	c.123C>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593728	0.86953	.	.	ENSG00000111087	ENST00000228682;ENST00000528432	.	.	.	4.28	2.44	0.29823	.	0.000000	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	6.6243	0.22820	0.0:0.7807:0.0:0.2193	.	.	.	.	X	41	.	ENSP00000228682:C41X	C	+	3	2	GLI1	56144071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.351000	0.34022	0.561000	0.29186	0.555000	0.69702	TGC		PASS	0.552	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		43	288	43	288	---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58127952	58127952	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:58127952G>A	ENST00000547588.1	-	5	1405	c.1406C>T	c.(1405-1407)tCa>tTa	p.S469L	AGAP2_ENST00000257897.3_Missense_Mutation_p.S133L	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	469	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.S469L(1)|p.S133L(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGCCCAGCCTGAGAACTTGCG	0.562																																						uc001spq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|breast(2)	5						c.(1405-1407)TCA>TTA		centaurin, gamma 1 isoform PIKE-L							52.0	49.0	50.0					12																	58127952		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58127952G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1406C>T	12.37:g.58127952G>A	ENSP00000449241:p.Ser469Leu					AGAP2_uc001spp.2_Missense_Mutation_p.S469L|AGAP2_uc001spr.2_Missense_Mutation_p.S133L	p.S469L	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			5	1406	-			469			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.1406C>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778183	0.90195	.	.	ENSG00000135439	ENST00000257897;ENST00000547588	T;T	0.64260	-0.09;-0.09	5.16	5.16	0.70880	Mitochondrial Rho-like (1);	0.424463	0.22763	N	0.055932	T	0.67627	0.2913	N	0.25245	0.725	0.44366	D	0.997267	D;D;D	0.65815	0.995;0.972;0.977	P;P;D	0.63877	0.868;0.813;0.919	T	0.71810	-0.4480	10	0.72032	D	0.01	.	17.8188	0.88643	0.0:0.0:1.0:0.0	.	133;469;469	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	L	133;469	ENSP00000257897:S133L;ENSP00000449241:S469L	ENSP00000257897:S133L	S	-	2	0	AGAP2	56414219	0.716000	0.27956	1.000000	0.80357	0.997000	0.91878	2.031000	0.41117	2.575000	0.86900	0.561000	0.74099	TCA		PASS	0.562	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		8	58	8	58	---	---	---	---
USP15	9958	broad.mit.edu	37	12	62790074	62790074	+	Splice_Site	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:62790074G>A	ENST00000280377.5	+	20	2628		c.e20-1		USP15_ENST00000393654.3_Splice_Site|USP15_ENST00000353364.3_Splice_Site	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15						BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTTTTAAACAGTGACTTGGAT	0.358																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1																			1	Unknown(1)		lung(1)	ovary(2)|lung(1)	3						c.e20-1		ubiquitin specific peptidase 15							114.0	111.0	112.0					12																	62790074		2203	4300	6503	SO:0001630	splice_region_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62790074G>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2571-1G>A	12.37:g.62790074G>A						USP15_uc001srb.1_Splice_Site_p.N828_splice	p.N857_splice	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	20	2580	+								Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Splice_Site	SNP	ENST00000280377.5	37	c.2571_splice	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170429	0.78452	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654;ENST00000549415	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6937	0.96012	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP15	61076341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.720000	0.93068	0.650000	0.86243	.		PASS	0.358	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	Intron	38	94	38	94	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62931381	62931381	+	Splice_Site	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:62931381G>T	ENST00000393632.2	+	16	2404		c.e16-1		MON2_ENST00000280379.6_Splice_Site|MON2_ENST00000546600.1_Splice_Site|MON2_ENST00000393630.3_Splice_Site|MON2_ENST00000552738.1_Splice_Site|MON2_ENST00000552115.1_Splice_Site|MON2_ENST00000393629.2_Splice_Site	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)						actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTAAAATATAGCTGACTTCCA	0.308																																						uc001sre.2																			1	Unknown(1)		lung(1)	central_nervous_system(2)	2						c.e16-1		MON2 homolog							79.0	79.0	79.0					12																	62931381		2203	4300	6503	SO:0001630	splice_region_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62931381G>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2014-1G>T	12.37:g.62931381G>T						MON2_uc009zqj.2_Splice_Site_p.L672_splice|MON2_uc010ssl.1_Splice_Site_p.L600_splice|MON2_uc010ssm.1_Splice_Site_p.L649_splice|MON2_uc010ssn.1_Splice_Site_p.L672_splice|MON2_uc001srf.2_Splice_Site_p.L435_splice	p.L672_splice	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	16	2405	+								A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Splice_Site	SNP	ENST00000393632.2	37	c.2014_splice	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541307	0.85917	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8395	0.96677	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MON2	61217648	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.743000	0.98849	2.676000	0.91093	0.655000	0.94253	.		PASS	0.308	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	Intron	45	128	45	128	---	---	---	---
C12orf66	144577	broad.mit.edu	37	12	64587969	64587969	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:64587969G>C	ENST00000398055.3	-	3	1044	c.991C>G	c.(991-993)Cac>Gac	p.H331D	C12orf66_ENST00000544871.1_Missense_Mutation_p.H278D|C12orf66_ENST00000311915.8_Missense_Mutation_p.H331D	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	331								p.H331D(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGGGGGTGGTGATAACCATGA	0.488																																						uc001srw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(991-993)CAC>GAC		hypothetical protein LOC144577							78.0	76.0	77.0					12																	64587969		1912	4127	6039	SO:0001583	missense	144577							g.chr12:64587969G>C		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.991C>G	12.37:g.64587969G>C	ENSP00000381132:p.His331Asp					C12orf66_uc009zql.2_Missense_Mutation_p.H278D	p.H331D	NM_152440	NP_689653	Q96MD2	CL066_HUMAN			3	1050	-			331					C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	c.991C>G	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686284	0.29962	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.38401	1.14;1.14;1.14	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.994;0.997	T	0.50398	-0.8833	9	.	.	.	-16.6513	20.6593	0.99626	0.0:0.0:1.0:0.0	.	278;331	F5H2Q3;Q96MD2	.;CL066_HUMAN	D	331;278;331	ENSP00000311486:H331D;ENSP00000445481:H278D;ENSP00000381132:H331D	.	H	-	1	0	C12orf66	62874236	1.000000	0.71417	0.997000	0.53966	0.030000	0.12068	9.787000	0.99055	2.885000	0.99019	0.655000	0.94253	CAC		PASS	0.488	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		41	191	41	191	---	---	---	---
GNS	2799	broad.mit.edu	37	12	65113896	65113896	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:65113896C>G	ENST00000258145.3	-	13	1656	c.1486G>C	c.(1486-1488)Gac>Cac	p.D496H	GNS_ENST00000543646.1_Missense_Mutation_p.D528H|GNS_ENST00000542058.1_Missense_Mutation_p.D476H|GNS_ENST00000418919.2_Missense_Mutation_p.D440H	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	496					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)	p.D496H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		AGCTCTGGGTCTATGGTTTTA	0.443																																						uc001ssg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1486-1488)GAC>CAC		glucosamine (N-acetyl)-6-sulfatase precursor							248.0	247.0	247.0					12																	65113896		2203	4300	6503	SO:0001583	missense	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65113896C>G		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1486G>C	12.37:g.65113896C>G	ENSP00000258145:p.Asp496His					GNS_uc001ssf.2_Missense_Mutation_p.D440H|GNS_uc010ssq.1_Missense_Mutation_p.D528H|GNS_uc010ssr.1_Missense_Mutation_p.D476H	p.D496H	NM_002076	NP_002067	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	13	1656	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		496					B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	c.1486G>C	CCDS8970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.888994|4.888994	0.91814|0.91814	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825|ENST00000540196	D;D;D;D|.	0.95821|.	-3.82;-3.82;-3.82;-3.82|.	5.39|5.39	5.39|5.39	0.77823|0.77823	Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76285|0.76285	0.3966|0.3966	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;0.997;1.0|.	D;D;D;D|.	0.87578|.	0.922;0.998;0.922;0.988|.	T|T	0.74671|0.74671	-0.3587|-0.3587	9|5	.|.	.|.	.|.	-28.7933|-28.7933	19.5406|19.5406	0.95272|0.95272	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	476;528;496;440|.	B4DYH8;F6S8M0;P15586;Q7Z3X3|.	.;.;GNS_HUMAN;.|.	H|T	440;496;528;476;413|281	ENSP00000413130:D440H;ENSP00000258145:D496H;ENSP00000438497:D528H;ENSP00000444819:D476H|.	.|.	D|R	-|-	1|2	0|0	GNS|GNS	63400163|63400163	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.946000|0.946000	0.59487|0.59487	7.708000|7.708000	0.84633|0.84633	2.699000|2.699000	0.92147|0.92147	0.561000|0.561000	0.74099|0.74099	GAC|AGA		PASS	0.443	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			70	450	70	450	---	---	---	---
GRIP1	23426	broad.mit.edu	37	12	66849292	66849292	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:66849292C>G	ENST00000398016.3	-	10	1163	c.1095G>C	c.(1093-1095)ctG>ctC	p.L365L	GRIP1_ENST00000359742.4_Silent_p.L417L|GRIP1_ENST00000286445.7_Silent_p.L417L	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.L365L(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCAGGGAACTCAGGCTGTATG	0.512																																						uc001stk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1093-1095)CTG>CTC		glutamate receptor interacting protein 1							134.0	137.0	136.0					12																	66849292		2041	4186	6227	SO:0001819	synonymous_variant	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66849292C>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1095G>C	12.37:g.66849292C>G						GRIP1_uc010sta.1_Silent_p.L309L|GRIP1_uc001stj.2_Silent_p.L147L|GRIP1_uc001stl.1_Intron|GRIP1_uc001stm.2_Silent_p.L365L	p.L365L	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	10	1336	-			417					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	c.1095G>C	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.106|9.106	1.005469|1.005469	0.19199|0.19199	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000543172|ENST00000538164	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|.	.|.	.|.	.|.	T|.	0.70281|.	0.3206|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68462|.	-0.5402|.	4|.	.|.	.|.	.|.	-10.0325|-10.0325	14.1954|14.1954	0.65667|0.65667	0.1495:0.8505:0.0:0.0|0.1495:0.8505:0.0:0.0	.|.	.|.	.|.	.|.	Q|S	185|232	.|.	.|.	E|X	-|-	1|2	0|2	GRIP1|GRIP1	65135559|65135559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.643000|2.643000	0.46604|0.46604	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	GAG|TGA		PASS	0.512	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			28	138	28	138	---	---	---	---
DYRK2	8445	broad.mit.edu	37	12	68051554	68051554	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:68051554G>A	ENST00000344096.3	+	3	1280	c.867G>A	c.(865-867)gaG>gaA	p.E289E	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Silent_p.E216E	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.E289E(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		ATATGCTGGAGAATTTCACCT	0.498																																						uc001str.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(865-867)GAG>GAA		dual-specificity tyrosine-(Y)-phosphorylation							146.0	138.0	140.0					12																	68051554		2203	4300	6503	SO:0001819	synonymous_variant	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68051554G>A	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.867G>A	12.37:g.68051554G>A						DYRK2_uc001sts.3_Silent_p.E216E	p.E289E	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1269	+			289			Protein kinase.		B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	c.867G>A	CCDS8978.1																																																																																				PASS	0.498	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			43	291	43	291	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72025649	72025649	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:72025649C>T	ENST00000378743.3	-	16	3737	c.3379G>A	c.(3379-3381)Gat>Aat	p.D1127N		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1127					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D1127N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTGACAAAATCCACATCTACA	0.343																																						uc001swo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(3379-3381)GAT>AAT		proline/serine-rich coiled-coil 2							90.0	83.0	85.0					12																	72025649		1810	4078	5888	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72025649C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3379G>A	12.37:g.72025649C>T	ENSP00000368017:p.Asp1127Asn						p.D1127N	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			16	3738	-			1127					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.3379G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500319	0.85176	.	.	ENSG00000133858	ENST00000378743	T	0.38401	1.14	5.58	5.58	0.84498	.	0.177263	0.48286	D	0.000191	T	0.55417	0.1919	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.39502	-0.9611	10	0.27785	T	0.31	.	19.9198	0.97084	0.0:1.0:0.0:0.0	.	1127	O60293	ZC3H1_HUMAN	N	1127	ENSP00000368017:D1127N	ENSP00000368017:D1127N	D	-	1	0	ZFC3H1	70311916	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.895000	0.75660	2.787000	0.95880	0.585000	0.79938	GAT		PASS	0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		24	154	24	154	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78598824	78598824	+	Missense_Mutation	SNP	G	G	T	rs552595814	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:78598824G>T	ENST00000397909.2	+	39	7117	c.6944G>T	c.(6943-6945)cGa>cTa	p.R2315L	NAV3_ENST00000266692.7_Missense_Mutation_p.R2116L|NAV3_ENST00000228327.6_Missense_Mutation_p.R2293L|NAV3_ENST00000541270.1_Missense_Mutation_p.R145L|NAV3_ENST00000536525.2_Missense_Mutation_p.R2293L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2315						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R2293L(1)|p.R2293Q(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTTCAGCTGCGACCAGAAGAT	0.507										HNSCC(70;0.22)																												uc001syp.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6943-6945)CGA>CTA		neuron navigator 3							77.0	80.0	79.0					12																	78598824		2055	4193	6248	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78598824G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6944G>T	12.37:g.78598824G>T	ENSP00000381007:p.Arg2315Leu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.R2293L|NAV3_uc010sub.1_Missense_Mutation_p.R1772L|NAV3_uc009zsf.2_Missense_Mutation_p.R1124L	p.R2315L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			39	7117	+			2315					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6944G>T		.	.	.	.	.	.	.	.	.	.	G	18.38	3.611689	0.66558	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270	T;T;T;T;T	0.50277	1.41;1.41;1.41;1.39;0.75	5.4	5.4	0.78164	.	0.000000	0.36628	U	0.002497	T	0.72953	0.3525	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.999;1.0	D;D;D;D	0.91635	0.999;0.992;0.994;0.998	T	0.76642	-0.2884	10	0.66056	D	0.02	-9.3303	19.1641	0.93546	0.0:0.0:1.0:0.0	.	2293;2116;2315;2293	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	2293;2315;2293;2116;145	ENSP00000446132:R2293L;ENSP00000381007:R2315L;ENSP00000228327:R2293L;ENSP00000266692:R2116L;ENSP00000444918:R145L	ENSP00000228327:R2293L	R	+	2	0	NAV3	77122955	1.000000	0.71417	0.588000	0.28705	0.010000	0.07245	9.869000	0.99810	2.532000	0.85374	0.591000	0.81541	CGA		PASS	0.507	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		18	43	18	43	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81675037	81675037	+	Splice_Site	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:81675037G>A	ENST00000549396.1	-	27	3371	c.3211C>T	c.(3211-3213)Cga>Tga	p.R1071*	PPFIA2_ENST00000548586.1_Splice_Site_p.R1065*|PPFIA2_ENST00000550359.2_Splice_Site_p.R918*|PPFIA2_ENST00000550584.2_Splice_Site_p.R1071*|PPFIA2_ENST00000333447.7_Splice_Site_p.R1056*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Splice_Site_p.R607*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000443686.3_Splice_Site_p.R966*|PPFIA2_ENST00000552948.1_Splice_Site_p.R1050*|PPFIA2_ENST00000549325.1_Splice_Site_p.R1056*|PPFIA2_ENST00000541017.1_Splice_Site_p.R257*|PPFIA2_ENST00000407050.4_Splice_Site_p.R970*	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1071	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R1071*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AACACCTACCGATGGAAACTA	0.313																																						uc001szo.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(3211-3213)CGA>TGA		PTPRF interacting protein alpha 2							59.0	56.0	57.0					12																	81675037		1801	4065	5866	SO:0001630	splice_region_variant	8499							g.chr12:81675037G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3212+1C>T	12.37:g.81675037G>A						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.R1071*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			27	3372	-			970					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	c.3211C>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	39	7.473709	0.98306	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.	.	.	5.42	3.46	0.39613	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2385	15.0553	0.71910	0.0:0.0:0.7438:0.2562	.	.	.	.	X	1071;1056;607;257;970;1082;1056;1065;966;1050	.	ENSP00000327416:R1056X	R	-	1	2	PPFIA2	80199168	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	3.251000	0.51453	1.406000	0.46857	0.484000	0.47621	CGA		PASS	0.313	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		Nonsense_Mutation	15	33	15	33	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85441104	85441104	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:85441104G>A	ENST00000393217.2	+	6	595	c.534G>A	c.(532-534)caG>caA	p.Q178Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	178	Glu-rich.							p.Q178Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGAGAAACAGAAGGAATTAG	0.353																																						uc001tac.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(532-534)CAG>CAA		leucine-rich repeats and IQ motif containing 1							76.0	84.0	81.0					12																	85441104		2203	4300	6503	SO:0001819	synonymous_variant	84125							g.chr12:85441104G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.534G>A	12.37:g.85441104G>A						LRRIQ1_uc001tab.1_Silent_p.Q178Q|LRRIQ1_uc001taa.1_Silent_p.Q178Q|LRRIQ1_uc001tad.2_Silent_p.Q86Q	p.Q178Q	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	6	645	+			178			Glu-rich.		Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.534G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	6.238	0.412060	0.11812	.	.	ENSG00000133640	ENST00000533414	.	.	.	5.08	1.64	0.23874	.	.	.	.	.	T	0.55289	0.1911	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46303	-0.9201	4	.	.	.	.	7.7855	0.29089	0.4939:0.0:0.5061:0.0	.	.	.	.	K	76	.	.	R	+	2	0	LRRIQ1	83965235	0.999000	0.42202	1.000000	0.80357	0.885000	0.51271	0.327000	0.19663	0.315000	0.23110	-0.225000	0.12378	AGA		PASS	0.353	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		18	117	18	117	---	---	---	---
POC1B	282809	broad.mit.edu	37	12	89861417	89861417	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:89861417C>A	ENST00000313546.3	-	8	984	c.856G>T	c.(856-858)Gca>Tca	p.A286S	POC1B_ENST00000549035.1_Missense_Mutation_p.A244S|POC1B_ENST00000541909.1_Missense_Mutation_p.A156S|POC1B_ENST00000549504.1_Missense_Mutation_p.L36F|POC1B_ENST00000393179.4_Missense_Mutation_p.A156S|POC1B_ENST00000378528.2_Missense_Mutation_p.L72F	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	286					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.A286S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						CCTCCTGATGCAAATAGCTCT	0.388																																						uc001tbc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(856-858)GCA>TCA		WD repeat domain 51B							74.0	70.0	71.0					12																	89861417		2203	4300	6503	SO:0001583	missense	282809				cell projection organization	centriole|microtubule basal body		g.chr12:89861417C>A	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.856G>T	12.37:g.89861417C>A	ENSP00000323302:p.Ala286Ser					POC1B_uc001tba.2_Missense_Mutation_p.A244S|POC1B_uc001tbb.2_Missense_Mutation_p.A156S|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_RNA	p.A286S	NM_172240	NP_758440	Q8TC44	POC1B_HUMAN			8	961	-			286			WD 7.		G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	c.856G>T	CCDS31869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.74|14.74	2.625566|2.625566	0.46840|0.46840	.|.	.|.	ENSG00000139323|ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909|ENST00000378528;ENST00000549504	T;T;T;T|T	0.70045|0.74209	-0.45;-0.45;-0.45;-0.45|-0.82	5.84|5.84	-11.7|-11.7	0.00046|0.00046	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.620027|.	0.16998|.	N|.	0.191031|.	T|T	0.81688|0.81688	0.4875|0.4875	M|M	0.91717|0.91717	3.235|3.235	0.20074|0.20074	N|N	0.999938|0.999938	B|.	0.10296|.	0.003|.	B|.	0.14578|.	0.011|.	T|T	0.82047|0.82047	-0.0651|-0.0651	10|7	0.66056|0.87932	D|D	0.02|0	.|.	11.8848|11.8848	0.52596|0.52596	0.3162:0.6027:0.0:0.0811|0.3162:0.6027:0.0:0.0811	.|.	286|.	Q8TC44|.	POC1B_HUMAN|.	S|F	156;286;244;156|72;36	ENSP00000376877:A156S;ENSP00000323302:A286S;ENSP00000447916:A244S;ENSP00000440301:A156S|ENSP00000367789:L72F	ENSP00000323302:A286S|ENSP00000367789:L72F	A|L	-|-	1|3	0|2	POC1B|POC1B	88385548|88385548	0.244000|0.244000	0.23889|0.23889	0.004000|0.004000	0.12327|0.12327	0.756000|0.756000	0.42949|0.42949	-0.497000|-0.497000	0.06428|0.06428	-2.800000|-2.800000	0.00352|0.00352	-0.150000|-0.150000	0.13652|0.13652	GCA|TTG		PASS	0.388	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		4	73	4	73	---	---	---	---
LUM	4060	broad.mit.edu	37	12	91498030	91498030	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:91498030C>A	ENST00000266718.4	-	3	1383	c.929G>T	c.(928-930)cGt>cTt	p.R310L	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	310					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.R310L(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GCCATCCAAACGCAAATGCTT	0.373																																						uc001tbm.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(928-930)CGT>CTT		lumican precursor							105.0	100.0	102.0					12																	91498030		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91498030C>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.929G>T	12.37:g.91498030C>A	ENSP00000266718:p.Arg310Leu					LUM_uc001tbn.2_RNA	p.R310L	NM_002345	NP_002336	P51884	LUM_HUMAN			3	1318	-			310			LRR 11.		B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.929G>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804628	0.90623	.	.	ENSG00000139329	ENST00000266718	T	0.18016	2.24	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49244	-0.8960	10	0.87932	D	0	-18.0187	18.3106	0.90199	0.0:1.0:0.0:0.0	.	310	P51884	LUM_HUMAN	L	310	ENSP00000266718:R310L	ENSP00000266718:R310L	R	-	2	0	LUM	90022161	1.000000	0.71417	0.980000	0.43619	0.790000	0.44656	7.146000	0.77373	2.398000	0.81561	0.591000	0.81541	CGT		PASS	0.373	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		22	122	22	122	---	---	---	---
MRPL42	28977	broad.mit.edu	37	12	93863109	93863109	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:93863109G>C	ENST00000549982.1	+	2	209	c.48G>C	c.(46-48)ttG>ttC	p.L16F	MRPL42_ENST00000552217.1_Missense_Mutation_p.L16F|MRPL42_ENST00000548545.1_Missense_Mutation_p.L16F|MRPL42_ENST00000547098.1_Missense_Mutation_p.L16F|MRPL42_ENST00000361630.2_Missense_Mutation_p.E10Q|MRPL42_ENST00000393128.4_Missense_Mutation_p.L16F	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	16					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E10Q(1)|p.L16F(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						GAACTATCTTGAAACATTTAT	0.279																																						uc001tcr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(46-48)TTG>TTC		mitochondrial ribosomal protein L42 isoform a							91.0	86.0	87.0					12																	93863109		2203	4300	6503	SO:0001583	missense	28977				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr12:93863109G>C	AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"""Mitochondrial ribosomal proteins / large subunits"", ""Mitochondrial ribosomal proteins / small subunits"""	14493	protein-coding gene	gene with protein product	"""mitochondrial ribosomal protein S32"""	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.48G>C	12.37:g.93863109G>C	ENSP00000449884:p.Leu16Phe					MRPL42_uc001tcq.2_Missense_Mutation_p.E10Q|MRPL42_uc001tcs.2_Missense_Mutation_p.L16F|MRPL42_uc001tct.2_RNA	p.L16F	NM_172177	NP_751917	Q9Y6G3	RM42_HUMAN			2	206	+			16					Q6FID1|Q96Q48|Q9P0S1	Missense_Mutation	SNP	ENST00000549982.1	37	c.48G>C	CCDS9045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.789|3.789	-0.044054|-0.044054	0.07452|0.07452	.|.	.|.	ENSG00000198015|ENSG00000198015	ENST00000361630|ENST00000549982;ENST00000552217;ENST00000393128	.|.	.|.	.|.	4.94|4.94	3.11|3.11	0.35812|0.35812	.|.	.|2.405460	.|0.01608	.|N	.|0.022398	T|T	0.43299|0.43299	0.1241|0.1241	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	P|B	0.34522|0.10296	0.455|0.003	B|B	0.30029|0.12156	0.11|0.007	T|T	0.32295|0.32295	-0.9912|-0.9912	8|9	0.46703|0.59425	T|D	0.11|0.04	0.2161|0.2161	8.2509|8.2509	0.31717|0.31717	0.1872:0.0:0.8128:0.0|0.1872:0.0:0.8128:0.0	.|.	10|16	A6NCI0|Q9Y6G3	.|RM42_HUMAN	Q|F	10|16	.|.	ENSP00000355202:E10Q|ENSP00000351506:L16F	E|L	+|+	1|3	0|2	MRPL42|MRPL42	92387240|92387240	0.994000|0.994000	0.37717|0.37717	0.691000|0.691000	0.30163|0.30163	0.016000|0.016000	0.09150|0.09150	1.702000|1.702000	0.37836|0.37836	0.766000|0.766000	0.33244|0.33244	-0.781000|-0.781000	0.03364|0.03364	GAA|TTG		PASS	0.279	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407715.1	NM_014050		17	84	17	84	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94976028	94976028	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:94976028G>A	ENST00000261226.4	-	2	496	c.365C>T	c.(364-366)tCa>tTa	p.S122L	TMCC3_ENST00000551457.1_Missense_Mutation_p.S91L	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	122						integral component of membrane (GO:0016021)		p.S122L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGAGTGAGCTGATTTCTGATT	0.488																																						uc001tdj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(364-366)TCA>TTA		transmembrane and coiled-coil domain family 3							119.0	108.0	112.0					12																	94976028		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94976028G>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.365C>T	12.37:g.94976028G>A	ENSP00000261226:p.Ser122Leu					TMCC3_uc001tdi.2_Missense_Mutation_p.S91L	p.S122L	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			2	483	-			122			Potential.		Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.365C>T	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295966	0.95574	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.54071	0.66;0.66;0.59	5.74	5.74	0.90152	.	0.053661	0.85682	D	0.000000	T	0.56140	0.1965	M	0.74467	2.265	0.80722	D	1	P	0.40398	0.716	B	0.35039	0.194	T	0.63963	-0.6518	10	0.72032	D	0.01	-12.237	20.2825	0.98528	0.0:0.0:1.0:0.0	.	122	Q9ULS5	TMCC3_HUMAN	L	122;91;91	ENSP00000261226:S122L;ENSP00000449888:S91L;ENSP00000450078:S91L	ENSP00000261226:S122L	S	-	2	0	TMCC3	93500159	1.000000	0.71417	0.872000	0.34217	0.924000	0.55760	9.629000	0.98417	2.873000	0.98535	0.561000	0.74099	TCA		PASS	0.488	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		31	167	31	167	---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95676299	95676299	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:95676299G>A	ENST00000436874.1	+	8	1312	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.E355K	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	403					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.E403K(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TCGGTACTTTGAAACTCAGCA	0.453																																						uc001tdz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1207-1209)GAA>AAA		vezatin, adherens junctions transmembrane							154.0	143.0	146.0					12																	95676299		1925	4139	6064	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95676299G>A	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1207G>A	12.37:g.95676299G>A	ENSP00000410083:p.Glu403Lys					VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_Intron|VEZT_uc001tdy.2_RNA	p.E403K	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			8	1312	+			403					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.1207G>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195175	0.94960	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.45668	0.89;0.89;0.89	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61667	-0.7016	10	0.48119	T	0.1	-29.9393	20.0591	0.97667	0.0:0.0:1.0:0.0	.	403	Q9HBM0	VEZA_HUMAN	K	403;355;359;403	ENSP00000410083:E403K;ENSP00000261219:E355K;ENSP00000380894:E359K	ENSP00000261219:E355K	E	+	1	0	VEZT	94200430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.496000	0.81526	2.739000	0.93911	0.491000	0.48974	GAA		PASS	0.453	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		92	234	92	234	---	---	---	---
DEPDC4	120863	broad.mit.edu	37	12	100656172	100656172	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:100656172C>T	ENST00000416321.1	-	3	572	c.570G>A	c.(568-570)atG>atA	p.M190I		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	190					intracellular signal transduction (GO:0035556)			p.M190I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GATTTGAAATCATTTCATATC	0.289																																						uc001thi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)ATG>ATA		DEP domain containing 4							85.0	84.0	84.0					12																	100656172		2203	4300	6503	SO:0001583	missense	120863				intracellular signal transduction			g.chr12:100656172C>T	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.570G>A	12.37:g.100656172C>T	ENSP00000396234:p.Met190Ile					DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.M123I|DEPDC4_uc009ztv.1_Missense_Mutation_p.M190I|DEPDC4_uc001thk.1_Missense_Mutation_p.M1I|DEPDC4_uc001thl.1_RNA	p.M190I	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN			3	573	-			190					Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	c.570G>A	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	C	5.341	0.248262	0.10130	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.29397	1.59;1.57;1.6;1.59	4.36	-0.422	0.12329	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.394230	0.04394	N	0.362915	T	0.14657	0.0354	N	0.08118	0	0.09310	N	0.99999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.18587	-1.0332	10	0.18710	T	0.47	.	4.6967	0.12808	0.5215:0.3026:0.0:0.176	.	190;190;123;190	E9PGM3;A4FU15;Q3ZCN8;Q8N2C3	.;.;.;DEPD4_HUMAN	I	190;123;190;190;123;183	ENSP00000396234:M190I;ENSP00000448385:M190I;ENSP00000448338:M123I;ENSP00000449590:M183I	ENSP00000367490:M190I	M	-	3	0	DEPDC4	99180303	0.564000	0.26602	0.508000	0.27688	0.962000	0.63368	-0.416000	0.07097	-0.531000	0.06340	0.514000	0.50259	ATG		PASS	0.289	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		5	157	5	157	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101721006	101721006	+	Silent	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:101721006T>A	ENST00000261637.4	+	26	3363	c.3189T>A	c.(3187-3189)ccT>ccA	p.P1063P		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1063					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.P1063P(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGTTTGAACCTGTGAGGCATT	0.512																																						uc001tia.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(3187-3189)CCT>CCA		down-regulated in metastasis							138.0	127.0	131.0					12																	101721006		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101721006T>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3189T>A	12.37:g.101721006T>A							p.P1063P	NM_014503	NP_055318	O75691	UTP20_HUMAN			26	3345	+			1063					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.3189T>A	CCDS9081.1																																																																																				PASS	0.512	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		81	213	81	213	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104134505	104134505	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:104134505G>A	ENST00000388887.2	+	55	6056	c.5852G>A	c.(5851-5853)tGc>tAc	p.C1951Y		NM_017564.9	NP_060034.9			stabilin 2									p.C1951Y(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCCAGGTGCTGCAAGGGCTAC	0.567																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(5851-5853)TGC>TAC		stabilin 2 precursor							108.0	97.0	101.0					12																	104134505		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104134505G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5852G>A	12.37:g.104134505G>A	ENSP00000373539:p.Cys1951Tyr					STAB2_uc009zug.2_RNA	p.C1951Y	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			55	6038	+			1951			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.5852G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865635	0.91511	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.89875	-2.58	5.46	5.46	0.80206	.	0.111999	0.64402	D	0.000009	D	0.93831	0.8027	M	0.77820	2.39	0.58432	D	0.999998	D	0.60160	0.987	P	0.60068	0.868	D	0.93888	0.7177	10	0.56958	D	0.05	.	19.3245	0.94256	0.0:0.0:1.0:0.0	.	1951	Q8WWQ8	STAB2_HUMAN	Y	1951;638	ENSP00000373539:C1951Y	ENSP00000258495:C638Y	C	+	2	0	STAB2	102658635	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.297000	0.89942	2.549000	0.85964	0.655000	0.94253	TGC		PASS	0.567	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			32	153	32	153	---	---	---	---
HSP90B1	7184	broad.mit.edu	37	12	104331551	104331551	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:104331551C>G	ENST00000299767.5	+	6	1004	c.822C>G	c.(820-822)ttC>ttG	p.F274L		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	274					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.F274L(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ATTCACAGTTCATAAACTTTC	0.284																																						uc001tkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(820-822)TTC>TTG		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						46.0	48.0	47.0					12																	104331551		2202	4299	6501	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104331551C>G	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.822C>G	12.37:g.104331551C>G	ENSP00000299767:p.Phe274Leu					HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.F274L	p.F274L	NM_003299	NP_003290	P14625	ENPL_HUMAN			6	927	+			274					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.822C>G	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362216	0.82353	.	.	ENSG00000166598	ENST00000299767;ENST00000537375	T	0.17213	2.29	5.67	2.45	0.29901	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72874	-0.4160	10	0.87932	D	0	.	12.0738	0.53632	0.0:0.7808:0.0:0.2192	.	300;274	Q59FC6;P14625	.;ENPL_HUMAN	L	274	ENSP00000299767:F274L	ENSP00000299767:F274L	F	+	3	2	HSP90B1	102855681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.099000	0.41767	0.760000	0.33108	0.655000	0.94253	TTC		PASS	0.284	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		5	44	5	44	---	---	---	---
APPL2	55198	broad.mit.edu	37	12	105583854	105583854	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:105583854C>G	ENST00000258530.3	-	15	1546	c.1321G>C	c.(1321-1323)Gag>Cag	p.E441Q	APPL2_ENST00000551662.1_Missense_Mutation_p.E447Q|APPL2_ENST00000539978.2_Missense_Mutation_p.E398Q	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.E441Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATCAGCTCCTCTGCTTCAGGT	0.453																																						uc001tlf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1321-1323)GAG>CAG		adaptor protein, phosphotyrosine interaction, PH							124.0	117.0	119.0					12																	105583854		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105583854C>G	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1321G>C	12.37:g.105583854C>G	ENSP00000258530:p.Glu441Gln					APPL2_uc010swt.1_Missense_Mutation_p.E398Q|APPL2_uc001tlg.1_Missense_Mutation_p.E195Q|APPL2_uc010swu.1_Missense_Mutation_p.E447Q|APPL2_uc009zuq.2_Missense_Mutation_p.E398Q	p.E441Q	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			15	1539	-			441					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1321G>C	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381920	0.42207	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.23552	2.7;1.9;2.48	5.42	4.53	0.55603	.	0.378995	0.31709	N	0.007200	T	0.24470	0.0593	L	0.39898	1.24	0.21627	N	0.99962	B;B;B	0.24823	0.056;0.112;0.112	B;B;B	0.34093	0.175;0.085;0.085	T	0.16188	-1.0411	10	0.48119	T	0.1	-4.5571	10.9115	0.47112	0.0:0.8577:0.0:0.1423	.	447;398;441	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	Q	441;398;447	ENSP00000258530:E441Q;ENSP00000444472:E398Q;ENSP00000446917:E447Q	ENSP00000258530:E441Q	E	-	1	0	APPL2	104107984	0.996000	0.38824	0.064000	0.19789	0.053000	0.15095	4.157000	0.58144	2.552000	0.86080	0.558000	0.71614	GAG		PASS	0.453	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		21	116	21	116	---	---	---	---
RIC8B	55188	broad.mit.edu	37	12	107208966	107208966	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:107208966G>C	ENST00000392839.2	+	3	731	c.625G>C	c.(625-627)Gaa>Caa	p.E209Q	RIC8B_ENST00000355478.2_Missense_Mutation_p.E169Q|RIC8B_ENST00000392837.4_Missense_Mutation_p.E209Q|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	209					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E209Q(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CGATGAGTATGAATCGGCCAT	0.512																																						uc001tlx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(625-627)GAA>CAA		resistance to inhibitors of cholinesterase 8							147.0	130.0	135.0					12																	107208966		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107208966G>C	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.625G>C	12.37:g.107208966G>C	ENSP00000376583:p.Glu209Gln					RIC8B_uc001tlw.2_Missense_Mutation_p.E209Q|RIC8B_uc001tly.2_Missense_Mutation_p.E169Q|RIC8B_uc001tlz.2_RNA	p.E209Q	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			3	750	+			209					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.625G>C	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524831	0.44969	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478	T;T;T	0.49432	0.78;0.78;0.78	5.91	5.01	0.66863	Armadillo-type fold (1);	0.134218	0.64402	D	0.000002	T	0.34337	0.0894	L	0.41492	1.28	0.80722	D	1	B;B;B	0.22080	0.041;0.051;0.064	B;B;B	0.29942	0.027;0.081;0.109	T	0.20874	-1.0262	10	0.15499	T	0.54	-7.5963	4.8237	0.13405	0.1552:0.2079:0.6369:0.0	.	169;209;209	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	Q	209;209;169	ENSP00000376582:E209Q;ENSP00000376583:E209Q;ENSP00000347662:E169Q	ENSP00000347662:E169Q	E	+	1	0	RIC8B	105733096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.974000	0.56852	2.813000	0.96785	0.655000	0.94253	GAA		PASS	0.512	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		38	172	38	172	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109510129	109510129	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:109510129C>G	ENST00000257548.5	+	6	692	c.599C>G	c.(598-600)cCc>cGc	p.P200R	USP30_ENST00000392784.2_Missense_Mutation_p.P169R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	200	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.P191R(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GAAATAACTCCCAAACAAATT	0.368																																						uc010sxi.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(598-600)CCC>CGC		ubiquitin specific peptidase 30							81.0	81.0	81.0					12																	109510129		2203	4300	6503	SO:0001583	missense	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109510129C>G	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.599C>G	12.37:g.109510129C>G	ENSP00000257548:p.Pro200Arg					USP30_uc001tnu.3_Missense_Mutation_p.P169R	p.P200R	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN			6	703	+			200			Cytoplasmic (Potential).		Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.599C>G	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942995	0.34283	.	.	ENSG00000135093	ENST00000392784;ENST00000257548;ENST00000536723;ENST00000536393	T;T;T	0.35973	1.29;1.28;1.59	4.82	2.86	0.33363	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.423140	0.26435	N	0.024394	T	0.27454	0.0674	L	0.45470	1.425	0.18873	N	0.999987	B	0.13145	0.007	B	0.15484	0.013	T	0.10590	-1.0623	10	0.45353	T	0.12	-25.2935	6.5023	0.22176	0.2891:0.6147:0.0:0.0962	.	200	Q70CQ3	UBP30_HUMAN	R	169;200;169;139	ENSP00000376535:P169R;ENSP00000257548:P200R;ENSP00000443678:P169R	ENSP00000257548:P200R	P	+	2	0	USP30	107994512	0.150000	0.22732	0.853000	0.33588	0.995000	0.86356	0.944000	0.29043	2.220000	0.72140	0.462000	0.41574	CCC		PASS	0.368	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		17	99	17	99	---	---	---	---
TRPV4	59341	broad.mit.edu	37	12	110252356	110252356	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:110252356G>A	ENST00000418703.2	-	1	340	c.246C>T	c.(244-246)ccC>ccT	p.P82P	TRPV4_ENST00000541794.1_Silent_p.P82P|TRPV4_ENST00000544971.1_Silent_p.P82P|TRPV4_ENST00000392719.2_Silent_p.P82P|TRPV4_ENST00000261740.2_Silent_p.P82P|TRPV4_ENST00000537083.1_Silent_p.P82P|TRPV4_ENST00000536838.1_Silent_p.P48P|TRPV4_ENST00000536570.1_5'Flank|TRPV4_ENST00000346520.2_Silent_p.P82P	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	82					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.P82P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCAGATCGATGGGGTTGGGCA	0.622																																						uc001tpj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(244-246)CCC>CCT		transient receptor potential cation channel,							54.0	56.0	55.0					12																	110252356		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110252356G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.246C>T	12.37:g.110252356G>A						TRPV4_uc001tpg.1_Silent_p.P48P|TRPV4_uc001tph.1_Silent_p.P82P|TRPV4_uc001tpi.1_Silent_p.P82P|TRPV4_uc001tpk.1_Silent_p.P82P|TRPV4_uc001tpl.1_Silent_p.P82P	p.P82P	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			1	341	-			82			Cytoplasmic (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.246C>T	CCDS9134.1																																																																																				PASS	0.622	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		5	73	5	73	---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110643430	110643430	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:110643430G>C	ENST00000242591.5	+	17	2253	c.1747G>C	c.(1747-1749)Gat>Cat	p.D583H	IFT81_ENST00000552912.1_Missense_Mutation_p.D583H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	583					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.D583H(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TCGTGCTACTGATGAGATGAA	0.313																																						uc001tqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1747-1749)GAT>CAT		intraflagellar transport 81-like isoform 1							153.0	148.0	150.0					12																	110643430		1812	4074	5886	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110643430G>C	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1747G>C	12.37:g.110643430G>C	ENSP00000242591:p.Asp583His					IFT81_uc001tqh.2_Missense_Mutation_p.D583H|IFT81_uc001tqj.2_RNA	p.D583H	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			17	1877	+			583			Potential.		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1747G>C	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632205	0.46944	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.65	4.76	0.60689	.	0.275149	0.46145	D	0.000312	T	0.60547	0.2277	M	0.61703	1.905	0.37776	D	0.926867	B	0.14438	0.01	B	0.18561	0.022	T	0.62091	-0.6927	9	0.46703	T	0.11	-11.9264	14.2991	0.66334	0.0722:0.0:0.9278:0.0	.	583	Q8WYA0	IFT81_HUMAN	H	583;583;14	.	ENSP00000242591:D583H	D	+	1	0	IFT81	109127813	1.000000	0.71417	0.889000	0.34880	0.941000	0.58515	6.570000	0.73996	1.395000	0.46643	0.563000	0.77884	GAT		PASS	0.313	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		44	265	44	265	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112143635	112143635	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:112143635C>G	ENST00000313698.4	+	4	585	c.430C>G	c.(430-432)Caa>Gaa	p.Q144E	ACAD10_ENST00000549590.1_Missense_Mutation_p.Q144E|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.Q144E|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	144						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.Q144E(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCCATAACTCAAATTCGGGC	0.453																																						uc001tsq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(430-432)CAA>GAA		acyl-Coenzyme A dehydrogenase family, member 10							150.0	136.0	141.0					12																	112143635		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112143635C>G	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.430C>G	12.37:g.112143635C>G	ENSP00000325137:p.Gln144Glu					ACAD10_uc009zvw.2_Missense_Mutation_p.Q144E|ACAD10_uc001tso.3_Missense_Mutation_p.Q144E|ACAD10_uc001tsp.2_Missense_Mutation_p.Q144E|ACAD10_uc009zvx.2_Missense_Mutation_p.Q144E	p.Q144E	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			4	630	+			144					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.430C>G	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088230	0.36855	.	.	ENSG00000111271	ENST00000509936;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000507135;ENST00000313698	T;T;T	0.05139	3.49;3.49;3.49	5.98	5.98	0.97165	Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.246908	0.29218	N	0.012784	T	0.03827	0.0108	N	0.15975	0.35	0.43841	D	0.996428	B;B;B;B;P	0.35226	0.288;0.049;0.285;0.417;0.491	B;B;B;B;B	0.29862	0.079;0.017;0.096;0.085;0.108	T	0.49808	-0.8900	10	0.44086	T	0.13	.	8.2535	0.31741	0.0:0.8139:0.0:0.1861	.	144;144;144;144;144	G3XAJ0;F8VZG7;Q6JQN1;Q6JQN1-2;Q6JQN1-4	.;.;ACD10_HUMAN;.;.	E	144	ENSP00000446959:Q144E;ENSP00000389813:Q144E;ENSP00000325137:Q144E	ENSP00000325137:Q144E	Q	+	1	0	ACAD10	110628018	0.981000	0.34729	0.325000	0.25375	0.951000	0.60555	3.029000	0.49712	2.833000	0.97629	0.655000	0.94253	CAA		PASS	0.453	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		7	138	7	138	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114793393	114793393	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:114793393G>C	ENST00000310346.4	-	9	2167	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	TBX5_ENST00000405440.2_Missense_Mutation_p.Q501E|TBX5_ENST00000349716.5_Missense_Mutation_p.Q451E	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	501				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)	p.Q501E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAGTGGTACTGATGAGGGGAT	0.562																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1501-1503)CAG>GAG		T-box 5 isoform 1							56.0	54.0	55.0					12																	114793393		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793393G>C	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1501C>G	12.37:g.114793393G>C	ENSP00000309913:p.Gln501Glu					TBX5_uc001tvp.2_Missense_Mutation_p.Q501E|TBX5_uc001tvq.2_Missense_Mutation_p.Q451E	p.Q501E	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1996	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		501	PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592).				A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1501C>G	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542400	0.85917	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440	D;D;D	0.88896	-2.38;-2.44;-2.44	5.42	5.42	0.78866	.	0.120160	0.64402	D	0.000015	D	0.93135	0.7814	L	0.59436	1.845	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	D	0.93552	0.6887	10	0.87932	D	0	.	19.2304	0.93836	0.0:0.0:1.0:0.0	.	501	Q99593	TBX5_HUMAN	E	451;501;501	ENSP00000337723:Q451E;ENSP00000309913:Q501E;ENSP00000384152:Q501E	ENSP00000309913:Q501E	Q	-	1	0	TBX5	113277776	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.476000	0.97823	2.540000	0.85666	0.655000	0.94253	CAG		PASS	0.562	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		20	53	20	53	---	---	---	---
PXN	5829	broad.mit.edu	37	12	120652667	120652667	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:120652667G>C	ENST00000228307.7	-	9	1380	c.1239C>G	c.(1237-1239)ttC>ttG	p.F413L	PXN_ENST00000458477.2_Missense_Mutation_p.F246L|PXN_ENST00000267257.7_Missense_Mutation_p.F427L|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000424649.2_Missense_Mutation_p.F379L|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000397506.3_Missense_Mutation_p.F225L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Missense_Mutation_p.F411L	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	413	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.			F -> S (in Ref. 5; CAI46024). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.F413L(1)|p.F379L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCGCGGGGAGAAGAGGTTGT	0.607																																						uc001txt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1237-1239)TTC>TTG		paxillin isoform 1							140.0	165.0	157.0					12																	120652667		2096	4217	6313	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120652667G>C	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1239C>G	12.37:g.120652667G>C	ENSP00000228307:p.Phe413Leu					PXN_uc001txu.2_Missense_Mutation_p.F225L|PXN_uc001txv.2_Missense_Mutation_p.F294L|PXN_uc001txx.2_Missense_Mutation_p.F246L|PXN_uc001txy.2_Missense_Mutation_p.F379L|PXN_uc001txz.2_RNA	p.F413L	NM_001080855	NP_001074324	P49023	PAXI_HUMAN			9	1370	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		413	F -> S (in Ref. 5; CAI46024).		LIM zinc-binding 1.		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.1239C>G	CCDS44997.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.791967|4.791967	0.90453|0.90453	.|.	.|.	ENSG00000089159|ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000331257;ENST00000541856|ENST00000550795	D;D;D;D;D;D|.	0.88741|.	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42|.	5.18|5.18	4.29|4.29	0.51040|0.51040	Zinc finger, LIM-type (3);|.	.|.	.|.	.|.	.|.	D|D	0.84488|0.84488	0.5483|0.5483	M|M	0.93978|0.93978	3.48|3.48	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.58970|.	0.984;0.984;0.847;0.966|.	P;P;P;P|.	0.60068|.	0.868;0.828;0.627;0.838|.	D|D	0.88313|0.88313	0.2957|0.2957	9|5	0.87932|.	D|.	0|.	.|.	13.5251|13.5251	0.61591|0.61591	0.0755:0.0:0.9245:0.0|0.0755:0.0:0.9245:0.0	.|.	379;427;225;413|.	P49023-2;P49023-3;E7EMK8;P49023|.	.;.;.;PAXI_HUMAN|.	L|C	246;413;379;411;427;225;41;138|162	ENSP00000395536:F246L;ENSP00000228307:F413L;ENSP00000391283:F379L;ENSP00000443887:F411L;ENSP00000267257:F427L;ENSP00000380643:F225L|.	ENSP00000228307:F413L|.	F|S	-|-	3|2	2|0	PXN|PXN	119137050|119137050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.452000|3.452000	0.52971|0.52971	1.180000|1.180000	0.42898|0.42898	0.551000|0.551000	0.68910|0.68910	TTC|TCT		PASS	0.607	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		12	66	12	66	---	---	---	---
PXN	5829	broad.mit.edu	37	12	120652718	120652718	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:120652718G>C	ENST00000228307.7	-	9	1329	c.1188C>G	c.(1186-1188)ttC>ttG	p.F396L	PXN_ENST00000458477.2_Missense_Mutation_p.F229L|PXN_ENST00000267257.7_Missense_Mutation_p.F410L|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000424649.2_Missense_Mutation_p.F362L|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000397506.3_Missense_Mutation_p.F208L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Missense_Mutation_p.F394L	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	396	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.F362L(1)|p.F396L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCGCTCGAAGAAGTTCCGGG	0.592																																						uc001txt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1186-1188)TTC>TTG		paxillin isoform 1							122.0	142.0	135.0					12																	120652718		2099	4214	6313	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120652718G>C	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1188C>G	12.37:g.120652718G>C	ENSP00000228307:p.Phe396Leu					PXN_uc001txu.2_Missense_Mutation_p.F208L|PXN_uc001txv.2_Missense_Mutation_p.F277L|PXN_uc001txx.2_Missense_Mutation_p.F229L|PXN_uc001txy.2_Missense_Mutation_p.F362L|PXN_uc001txz.2_RNA	p.F396L	NM_001080855	NP_001074324	P49023	PAXI_HUMAN			9	1319	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		396			LIM zinc-binding 1.		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.1188C>G	CCDS44997.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.710479|4.710479	0.89018|0.89018	.|.	.|.	ENSG00000089159|ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000331257;ENST00000541856|ENST00000550795	D;D;D;D;D;D|.	0.88431|.	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38|.	5.18|5.18	3.32|3.32	0.38043|0.38043	Zinc finger, LIM-type (4);|.	.|.	.|.	.|.	.|.	T|T	0.75895|0.75895	0.3912|0.3912	M|M	0.89163|0.89163	3.01|3.01	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.996;0.994;0.994;0.997|.	T|T	0.75878|0.75878	-0.3162|-0.3162	9|5	0.87932|.	D|.	0|.	.|.	8.9147|8.9147	0.35574|0.35574	0.2301:0.0:0.7699:0.0|0.2301:0.0:0.7699:0.0	.|.	362;410;208;396|.	P49023-2;P49023-3;E7EMK8;P49023|.	.;.;.;PAXI_HUMAN|.	L|C	229;396;362;394;410;208;24;121|145	ENSP00000395536:F229L;ENSP00000228307:F396L;ENSP00000391283:F362L;ENSP00000443887:F394L;ENSP00000267257:F410L;ENSP00000380643:F208L|.	ENSP00000228307:F396L|.	F|S	-|-	3|2	2|0	PXN|PXN	119137101|119137101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.186000|4.186000	0.58337|0.58337	0.555000|0.555000	0.29079|0.29079	0.551000|0.551000	0.68910|0.68910	TTC|TCT		PASS	0.592	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		5	54	5	54	---	---	---	---
OASL	8638	broad.mit.edu	37	12	121465579	121465579	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:121465579G>C	ENST00000257570.5	-	4	969	c.699C>G	c.(697-699)ctC>ctG	p.L233L	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	233					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)	p.L233L(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGAGCATAGAGAGGGGGCA	0.488																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(697-699)CTC>CTG		2'-5'-oligoadenylate synthetase-like isoform a							66.0	58.0	61.0					12																	121465579		2203	4300	6503	SO:0001819	synonymous_variant	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121465579G>C	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.699C>G	12.37:g.121465579G>C						OASL_uc001tzk.1_Intron	p.L233L	NM_003733	NP_003724	Q15646	OASL_HUMAN			4	705	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		233					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Silent	SNP	ENST00000257570.5	37	c.699C>G	CCDS9211.1																																																																																				PASS	0.488	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		17	66	17	66	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122803817	122803817	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:122803817C>A	ENST00000540338.1	-	17	3369	c.3328G>T	c.(3328-3330)Gag>Tag	p.E1110*	CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E988*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.E1099*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E685*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E1099*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E1064*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1110					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E1099*(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGGTGTCCTCCAAGGAGGCC	0.403																																						uc001ucg.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)	3						c.(3328-3330)GAG>TAG		restin isoform a							202.0	171.0	181.0					12																	122803817		2203	4300	6503	SO:0001587	stop_gained	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122803817C>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3328G>T	12.37:g.122803817C>A	ENSP00000439093:p.Glu1110*					CLIP1_uc001uch.1_Nonsense_Mutation_p.E1099*|CLIP1_uc001uci.1_Nonsense_Mutation_p.E1064*|CLIP1_uc001ucj.1_Nonsense_Mutation_p.E685*	p.E1110*	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	17	3434	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1110			Potential.		A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	ENST00000540338.1	37	c.3328G>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	43	10.376251	0.99393	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	.	.	.	5.34	5.34	0.76211	.	0.314625	0.34879	N	0.003615	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.2937	17.5803	0.87965	0.0:1.0:0.0:0.0	.	.	.	.	X	685;1099;1099;829;141;1064;1110	.	ENSP00000303585:E1099X	E	-	1	0	CLIP1	121369770	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.685000	0.68204	2.658000	0.90341	0.563000	0.77884	GAG		PASS	0.403	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		48	112	48	112	---	---	---	---
RSRC2	65117	broad.mit.edu	37	12	122991435	122991435	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:122991435C>T	ENST00000331738.7	-	9	1216	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L	RSRC2_ENST00000354654.2_Silent_p.L309L|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	357							poly(A) RNA binding (GO:0044822)	p.L357L(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTCCAAAATTCAATTTTTCCC	0.318																																						uc001ucr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1069-1071)TTG>TTA		arginine/serine-rich coiled-coil 2 isoform a							157.0	154.0	155.0					12																	122991435		2203	4300	6503	SO:0001819	synonymous_variant	65117							g.chr12:122991435C>T	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1071G>A	12.37:g.122991435C>T						RSRC2_uc001uco.2_Silent_p.L126L|RSRC2_uc001ucp.2_Silent_p.L298L|RSRC2_uc001ucq.2_Silent_p.L125L|RSRC2_uc001ucs.2_Silent_p.L126L|RSRC2_uc001uct.2_Silent_p.L309L|RSRC2_uc001ucu.2_Silent_p.L358L	p.L357L	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	9	1217	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		357					Q6N040|Q6NW16|Q9H864	Silent	SNP	ENST00000331738.7	37	c.1071G>A	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	C	8.843	0.942606	0.18281	.	.	ENSG00000111011	ENST00000418773	.	.	.	5.73	-0.42	0.12336	.	.	.	.	.	T	0.55609	0.1931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48703	-0.9012	5	0.27082	T	0.32	.	10.8958	0.47021	0.0:0.4398:0.0:0.5602	.	.	.	.	K	359	.	ENSP00000398858:E359K	E	-	1	0	RSRC2	121557388	0.509000	0.26163	0.985000	0.45067	0.995000	0.86356	-0.278000	0.08490	-0.056000	0.13221	-0.140000	0.14226	GAA		PASS	0.318	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		17	151	17	151	---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123805125	123805125	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:123805125G>A	ENST00000602398.1	-	19	2648	c.2521C>T	c.(2521-2523)Ctt>Ttt	p.L841F	SBNO1_ENST00000267176.4_Missense_Mutation_p.L840F|SBNO1_ENST00000420886.2_Missense_Mutation_p.L841F|SBNO1_ENST00000602750.1_Missense_Mutation_p.L840F			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	841					regulation of transcription, DNA-templated (GO:0006355)			p.L840F(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTTGTTATAAGGCTACTGTTA	0.353																																						uc010tap.1																			1	Substitution - Missense(1)		lung(1)	breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(2521-2523)CTT>TTT		sno, strawberry notch homolog 1							141.0	139.0	139.0					12																	123805125		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123805125G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2521C>T	12.37:g.123805125G>A	ENSP00000473665:p.Leu841Phe					SBNO1_uc010tao.1_Missense_Mutation_p.L840F|SBNO1_uc010taq.1_Intron	p.L841F	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	18	2521	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		841					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.2521C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248795	0.22880	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.31769	1.48;1.48	5.72	4.83	0.62350	.	0.228496	0.38548	N	0.001656	T	0.15696	0.0378	N	0.22421	0.69	0.40892	D	0.984088	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16158	-1.0412	10	0.09843	T	0.71	-17.5572	5.4668	0.16648	0.2663:0.0:0.7337:0.0	.	841;840	A3KN83;A3KN83-2	SBNO1_HUMAN;.	F	841;840	ENSP00000387361:L841F;ENSP00000267176:L840F	ENSP00000267176:L840F	L	-	1	0	SBNO1	122371078	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.970000	0.76099	2.693000	0.91896	0.655000	0.94253	CTT		PASS	0.353	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		39	270	39	270	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124297756	124297756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:124297756C>T	ENST00000409039.3	+	19	2861	c.2836C>T	c.(2836-2838)Cag>Tag	p.Q946*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	946	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q946*(1)|p.Q764*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGCCCACCTCAGAAGGGGGA	0.388																																						uc001uft.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2836-2838)CAG>TAG		dynein, axonemal, heavy chain 10							54.0	56.0	55.0					12																	124297756		2203	4300	6503	SO:0001587	stop_gained	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124297756C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2836C>T	12.37:g.124297756C>T	ENSP00000386770:p.Gln946*					DNAH10_uc010tav.1_Nonsense_Mutation_p.Q488*|DNAH10_uc010taw.1_Nonsense_Mutation_p.Q431*	p.Q946*	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	19	2861	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		946			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	c.2836C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	40	7.933288	0.98568	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	19.8145	0.96560	0.0:1.0:0.0:0.0	.	.	.	.	X	946	.	ENSP00000386770:Q946X	Q	+	1	0	DNAH10	122863709	1.000000	0.71417	0.972000	0.41901	0.726000	0.41606	7.818000	0.86416	2.683000	0.91414	0.563000	0.77884	CAG		PASS	0.388	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			20	77	20	77	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124311323	124311323	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:124311323C>G	ENST00000409039.3	+	24	3940	c.3915C>G	c.(3913-3915)ctC>ctG	p.L1305L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1305	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1305L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGGGCTCTCAGAAAGCTAC	0.453																																						uc001uft.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3913-3915)CTC>CTG		dynein, axonemal, heavy chain 10							137.0	133.0	134.0					12																	124311323		1881	4110	5991	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124311323C>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3915C>G	12.37:g.124311323C>G							p.L1305L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	24	3940	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1305			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.3915C>G	CCDS9255.2																																																																																				PASS	0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			22	172	22	172	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130884263	130884263	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:130884263G>A	ENST00000261655.4	-	18	3256	c.3093C>T	c.(3091-3093)caC>caT	p.H1031H		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1031					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.H1031H(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTTGAGAGTAGTGGGATGGAG	0.458																																						uc001uil.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(3091-3093)CAC>CAT		RIM-binding protein 2							149.0	129.0	136.0					12																	130884263		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130884263G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.3093C>T	12.37:g.130884263G>A							p.H1031H	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	18	3257	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	1031					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.3093C>T	CCDS31925.1																																																																																				PASS	0.458	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		34	145	34	145	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130926707	130926707	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:130926707A>T	ENST00000261655.4	-	8	1302	c.1139T>A	c.(1138-1140)cTg>cAg	p.L380Q	RIMBP2_ENST00000535703.1_Missense_Mutation_p.L288Q|RIMBP2_ENST00000536002.1_Missense_Mutation_p.L288Q	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	380	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.L380Q(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGTGCACTGCAGCTCATCCGA	0.642																																						uc001uil.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1138-1140)CTG>CAG		RIM-binding protein 2							116.0	105.0	108.0					12																	130926707		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130926707A>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1139T>A	12.37:g.130926707A>T	ENSP00000261655:p.Leu380Gln					RIMBP2_uc001uim.2_Missense_Mutation_p.L288Q|RIMBP2_uc001uin.1_Missense_Mutation_p.L39Q	p.L380Q	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1303	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	380					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1139T>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	a	15.55	2.866660	0.51588	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.54479	0.57;0.57;0.57	4.23	4.23	0.50019	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.71417	0.3337	M	0.77313	2.365	0.44745	D	0.997744	D;D;D	0.76494	0.997;0.972;0.999	D;P;D	0.85130	0.916;0.861;0.997	T	0.74575	-0.3620	10	0.52906	T	0.07	-23.6799	13.3303	0.60483	1.0:0.0:0.0:0.0	.	288;288;380	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	Q	380;288;288;288	ENSP00000261655:L380Q;ENSP00000440347:L288Q;ENSP00000439159:L288Q	ENSP00000261655:L380Q	L	-	2	0	RIMBP2	129492660	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	7.521000	0.81832	1.522000	0.49001	0.439000	0.28862	CTG		PASS	0.642	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		16	55	16	55	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130935770	130935770	+	Silent	SNP	G	G	A	rs562917018		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:130935770G>A	ENST00000261655.4	-	5	586	c.423C>T	c.(421-423)tcC>tcT	p.S141S	RIMBP2_ENST00000535703.1_Silent_p.S49S|RIMBP2_ENST00000536002.1_Silent_p.S49S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	141					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S141S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTGCGCTACCGGATCTCGACA	0.637																																						uc001uil.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(421-423)TCC>TCT		RIM-binding protein 2							66.0	61.0	63.0					12																	130935770		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130935770G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.423C>T	12.37:g.130935770G>A						RIMBP2_uc001uim.2_Silent_p.S49S	p.S141S	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	5	587	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	141					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.423C>T	CCDS31925.1																																																																																				PASS	0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		19	57	19	57	---	---	---	---
PGAM5	192111	broad.mit.edu	37	12	133294611	133294611	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:133294611C>T	ENST00000498926.2	+	5	682	c.624C>T	c.(622-624)ttC>ttT	p.F208F	PGAM5_ENST00000317555.2_Silent_p.F208F|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000541034.1_3'UTR|PGAM5_ENST00000543955.1_Silent_p.F59F|PGAM5_ENST00000454808.2_Silent_p.F59F	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	208					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)	p.F208F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		AGGCCGCCTTCCGGAACTACA	0.617																																						uc009zyv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(622-624)TTC>TTT		phosphoglycerate mutase family member 5							79.0	68.0	72.0					12																	133294611		2203	4299	6502	SO:0001819	synonymous_variant	192111					integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity	g.chr12:133294611C>T	BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.624C>T	12.37:g.133294611C>T						PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Silent_p.F208F	p.F208F	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)	5	651	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		208					A9LN06|C9IZY7|Q96JB0	Silent	SNP	ENST00000498926.2	37	c.624C>T	CCDS53845.1																																																																																				PASS	0.617	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575		13	87	13	87	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133373127	133373127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr12:133373127G>A	ENST00000450791.2	-	9	2281	c.2098C>T	c.(2098-2100)Cag>Tag	p.Q700*	GOLGA3_ENST00000545875.1_Nonsense_Mutation_p.Q700*|GOLGA3_ENST00000537452.1_Nonsense_Mutation_p.Q700*|GOLGA3_ENST00000456883.2_Nonsense_Mutation_p.Q700*|GOLGA3_ENST00000204726.3_Nonsense_Mutation_p.Q700*			Q08378	GOGA3_HUMAN	golgin A3	700	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.Q700*(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGACTTACCTGCTCCAGCTGC	0.647																																						uc001ukz.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2098-2100)CAG>TAG		Golgi autoantigen, golgin subfamily a, 3							83.0	86.0	85.0					12																	133373127		2203	4300	6503	SO:0001587	stop_gained	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133373127G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2098C>T	12.37:g.133373127G>A	ENSP00000410378:p.Gln700*					GOLGA3_uc001ula.1_Nonsense_Mutation_p.Q700*|GOLGA3_uc001ulb.2_Nonsense_Mutation_p.Q700*	p.Q700*	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	10	2657	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	700			Gln-rich.|Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Nonsense_Mutation	SNP	ENST00000450791.2	37	c.2098C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	42	9.485663	0.99184	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.5734	0.33583	0.076:0.0:0.7707:0.1532	.	.	.	.	X	700	.	ENSP00000204726:Q700X	Q	-	1	0	GOLGA3	131883200	1.000000	0.71417	0.999000	0.59377	0.261000	0.26267	6.209000	0.72171	2.563000	0.86464	0.655000	0.94253	CAG		PASS	0.647	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		24	117	24	117	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23912025	23912025	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:23912025G>C	ENST00000382292.3	-	9	6263	c.5990C>G	c.(5989-5991)tCt>tGt	p.S1997C	SACS_ENST00000382298.3_Missense_Mutation_p.S1997C|SACS_ENST00000402364.1_Missense_Mutation_p.S1247C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1997					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S1997C(1)|p.S1850C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTAAGTATAGAGTCATCTAG	0.378																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(5989-5991)TCT>TGT		sacsin							44.0	45.0	45.0					13																	23912025		2202	4299	6501	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912025G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5990C>G	13.37:g.23912025G>C	ENSP00000371729:p.Ser1997Cys					SACS_uc001uoo.2_Missense_Mutation_p.S1850C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S1997C	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6579	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1997					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5990C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	1.270	-0.613467	0.03690	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89050	-2.3;-2.46;-2.3	5.79	1.81	0.25067	.	0.498129	0.22557	N	0.058508	T	0.80939	0.4720	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.68538	-0.5382	10	0.45353	T	0.12	.	14.9842	0.71332	0.0:0.3822:0.5196:0.0982	.	1997	Q9NZJ4	SACS_HUMAN	C	1997;1247;1997	ENSP00000371729:S1997C;ENSP00000385844:S1247C;ENSP00000371735:S1997C	ENSP00000371729:S1997C	S	-	2	0	SACS	22810025	0.913000	0.31002	0.113000	0.21522	0.479000	0.33129	2.551000	0.45820	0.374000	0.24650	-1.273000	0.01405	TCT		PASS	0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		20	83	20	83	---	---	---	---
GPR12	2835	broad.mit.edu	37	13	27333804	27333804	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:27333804G>C	ENST00000381436.2	-	1	623	c.161C>G	c.(160-162)tCg>tGg	p.S54W	GPR12_ENST00000405846.3_Missense_Mutation_p.S54W			P47775	GPR12_HUMAN	G protein-coupled receptor 12	54					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.S54W(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GAGGGTTCCCGAGGTACACAA	0.572																																						uc010aal.2																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)TCG>TGG		G protein-coupled receptor 12							101.0	99.0	100.0					13																	27333804		2203	4300	6503	SO:0001583	missense	2835					integral to plasma membrane		g.chr13:27333804G>C	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.161C>G	13.37:g.27333804G>C	ENSP00000370844:p.Ser54Trp					GPR12_uc010tdl.1_Intron	p.S54W	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	383	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	54			Helical; Name=1; (Potential).		Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.161C>G	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318739	0.81469	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.37915	1.17;1.17	5.36	5.36	0.76844	.	0.059503	0.64402	D	0.000001	T	0.59865	0.2225	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.61941	-0.6959	10	0.72032	D	0.01	.	19.0843	0.93196	0.0:0.0:1.0:0.0	.	54	P47775	GPR12_HUMAN	W	54	ENSP00000384932:S54W;ENSP00000370844:S54W	ENSP00000370844:S54W	S	-	2	0	GPR12	26231804	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.696000	0.98695	2.532000	0.85374	0.561000	0.74099	TCG		PASS	0.572	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			31	97	31	97	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28964033	28964033	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:28964033G>C	ENST00000282397.4	-	13	2120	c.1869C>G	c.(1867-1869)atC>atG	p.I623M	FLT1_ENST00000541932.1_Missense_Mutation_p.I623M	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	623	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.I623M(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAACATTCATGATGGTAAGAT	0.413																																						uc001usb.3																			2	Substitution - Missense(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(1867-1869)ATC>ATG		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						270.0	230.0	244.0					13																	28964033		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28964033G>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1869C>G	13.37:g.28964033G>C	ENSP00000282397:p.Ile623Met					FLT1_uc010aar.1_Missense_Mutation_p.I623M|FLT1_uc001usc.3_Missense_Mutation_p.I623M|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.I106M	p.I623M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	13	2154	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	623			Ig-like C2-type 6.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1869C>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497175	0.26861	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.79033	-1.23;-1.23	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198379	0.44902	D	0.000403	T	0.80763	0.4685	M	0.74467	2.265	0.80722	D	1	P;P;B	0.39831	0.544;0.69;0.069	B;B;B	0.41036	0.297;0.346;0.079	T	0.77135	-0.2699	10	0.25106	T	0.35	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	623;623;623	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	M	623	ENSP00000282397:I623M;ENSP00000437631:I623M	ENSP00000282397:I623M	I	-	3	3	FLT1	27862033	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	5.586000	0.67503	2.880000	0.98712	0.650000	0.86243	ATC		PASS	0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			64	213	64	213	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29599656	29599656	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:29599656C>A	ENST00000431530.3	+	1	909	c.851C>A	c.(850-852)aCa>aAa	p.T284K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	274						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.T284K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGTGAGCACACATCACATTCC	0.512																																						uc001usl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)ACA>AAA		hypothetical protein LOC23281 isoform a							46.0	47.0	46.0					13																	29599656		2145	4258	6403	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599656C>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.851C>A	13.37:g.29599656C>A	ENSP00000392057:p.Thr284Lys						p.T284K	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	909	+			274					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.851C>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	8.308	0.821395	0.16678	.	.	ENSG00000132938	ENST00000431530	T	0.13196	2.61	4.48	0.633	0.17712	.	0.644259	0.14049	N	0.344915	T	0.11707	0.0285	L	0.51422	1.61	0.26060	N	0.981366	B	0.06786	0.001	B	0.13407	0.009	T	0.32348	-0.9910	9	.	.	.	.	7.3314	0.26584	0.1215:0.6554:0.0:0.2231	.	274	Q5JR59	MTUS2_HUMAN	K	284	ENSP00000392057:T284K	.	T	+	2	0	MTUS2	28497656	0.514000	0.26202	0.001000	0.08648	0.001000	0.01503	0.859000	0.27858	-0.366000	0.08064	-1.134000	0.01955	ACA		PASS	0.512	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		5	24	5	24	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35644898	35644898	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:35644898C>T	ENST00000400445.3	+	10	2014	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	NBEA_ENST00000379939.2_Missense_Mutation_p.H494Y|NBEA_ENST00000310336.4_Missense_Mutation_p.H494Y|NBEA_ENST00000540320.1_Missense_Mutation_p.H494Y	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	494					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.H494Y(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGTGCAATTCATTCAATTGG	0.333																																						uc001uvb.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(1480-1482)CAT>TAT		neurobeachin							99.0	99.0	99.0					13																	35644898		2203	4300	6503	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35644898C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1480C>T	13.37:g.35644898C>T	ENSP00000383295:p.His494Tyr						p.H494Y	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	11	1686	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	494					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1480C>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360186	0.82353	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.68135	-0.5489	10	0.22706	T	0.39	.	19.1725	0.93585	0.0:1.0:0.0:0.0	.	494	Q5T321	.	Y	494	ENSP00000440951:H494Y;ENSP00000383295:H494Y;ENSP00000369271:H494Y;ENSP00000308534:H494Y	ENSP00000308534:H494Y	H	+	1	0	NBEA	34542898	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.580000	0.82523	2.620000	0.88729	0.305000	0.20034	CAT		PASS	0.333	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		55	75	55	75	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39433451	39433451	+	Missense_Mutation	SNP	G	G	C	rs563216892		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:39433451G>C	ENST00000280481.7	+	14	7459	c.7243G>C	c.(7243-7245)Gat>Cat	p.D2415H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2415					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2415H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCAGACTACGATAAAACAGG	0.498																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(7243-7245)GAT>CAT		FRAS1-related extracellular matrix protein 2							144.0	126.0	132.0					13																	39433451		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39433451G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7243G>C	13.37:g.39433451G>C	ENSP00000280481:p.Asp2415His					FREM2_uc001uww.2_Missense_Mutation_p.D501H	p.D2415H	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	14	7552	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2415			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7243G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710553	0.89112	.	.	ENSG00000150893	ENST00000280481	T	0.76448	-1.02	6.16	5.32	0.75619	.	0.340953	0.33023	N	0.005375	D	0.88381	0.6421	M	0.82517	2.595	0.58432	D	0.999999	D;D	0.76494	0.999;0.981	D;P	0.71656	0.974;0.832	D	0.89850	0.4009	10	0.62326	D	0.03	.	15.4928	0.75624	0.0659:0.0:0.9341:0.0	.	2415;2415	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	H	2415	ENSP00000280481:D2415H	ENSP00000280481:D2415H	D	+	1	0	FREM2	38331451	1.000000	0.71417	0.965000	0.40720	0.901000	0.52897	7.989000	0.88205	1.617000	0.50277	0.650000	0.86243	GAT		PASS	0.498	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		39	158	39	158	---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42873499	42873499	+	Splice_Site	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:42873499G>C	ENST00000025301.2	+	8	792	c.617G>C	c.(616-618)gGa>gCa	p.G206A		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	206					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.G206A(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTTCCTATAGGAATGAACATT	0.318																																						uc001uys.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(616-618)GGA>GCA		A-kinase anchor protein 11							44.0	43.0	43.0					13																	42873499		2202	4299	6501	SO:0001630	splice_region_variant	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42873499G>C	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.617-1G>C	13.37:g.42873499G>C							p.G206A	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	792	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	206					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.617G>C	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818012	0.32145	.	.	ENSG00000023516	ENST00000025301	T	0.14766	2.48	5.67	4.82	0.62117	.	0.303026	0.31102	N	0.008253	T	0.20780	0.0500	L	0.44542	1.39	0.29675	N	0.842158	D	0.71674	0.998	P	0.57152	0.814	T	0.04128	-1.0975	9	.	.	.	.	8.7239	0.34458	0.2293:0.0:0.7707:0.0	.	206	Q9UKA4	AKA11_HUMAN	A	206	ENSP00000025301:G206A	.	G	+	2	0	AKAP11	41771499	1.000000	0.71417	0.999000	0.59377	0.327000	0.28475	2.966000	0.49208	1.508000	0.48769	0.655000	0.94253	GGA		PASS	0.318	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	Missense_Mutation	21	58	21	58	---	---	---	---
KLF5	688	broad.mit.edu	37	13	73649905	73649905	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:73649905G>C	ENST00000377687.4	+	4	1791	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	KLF5_ENST00000539231.1_Missense_Mutation_p.E328Q	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	419					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E419Q(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCGATCGGATGAGCTGACCCG	0.592																																						uc001vje.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1255-1257)GAG>CAG		Kruppel-like factor 5							61.0	60.0	61.0					13																	73649905		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73649905G>C	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1255G>C	13.37:g.73649905G>C	ENSP00000366915:p.Glu419Gln					KLF5_uc001vjd.2_Missense_Mutation_p.E328Q	p.E419Q	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	4	1579	+		Prostate(6;0.00187)|Breast(118;0.0735)	419			C2H2-type 2.		L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.1255G>C	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794267	0.90453	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.51817	0.69;0.69	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	N	0.16567	0.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62416	-0.6859	10	0.87932	D	0	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	419	Q13887	KLF5_HUMAN	Q	328;419;399	ENSP00000440407:E328Q;ENSP00000366915:E419Q	ENSP00000366915:E419Q	E	+	1	0	KLF5	72547906	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAG		PASS	0.592	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			12	67	12	67	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77695532	77695532	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:77695532C>G	ENST00000544440.2	-	55	8019	c.8002G>C	c.(8002-8004)Gat>Cat	p.D2668H	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D2706H|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2668H|MYCBP2_ENST00000360084.5_Missense_Mutation_p.D131H					MYC binding protein 2, E3 ubiquitin protein ligase									p.D2668H(2)|p.D131H(1)|p.D2706H(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGTCCATAATCAAATCCTTGG	0.358																																						uc001vkf.2																			4	Substitution - Missense(4)		lung(4)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(8002-8004)GAT>CAT		MYC binding protein 2							82.0	84.0	83.0					13																	77695532		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77695532C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8002G>C	13.37:g.77695532C>G	ENSP00000444596:p.Asp2668His					MYCBP2_uc010aev.2_Missense_Mutation_p.D2072H|MYCBP2_uc001vkg.1_Missense_Mutation_p.D131H	p.D2668H	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	8093	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2668						Missense_Mutation	SNP	ENST00000544440.2	37	c.8002G>C		.	.	.	.	.	.	.	.	.	.	C	26.8	4.769059	0.90020	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.55234	1.42;1.42;1.42;0.53	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.66697	-0.5858	10	0.66056	D	0.02	.	19.6027	0.95569	0.0:1.0:0.0:0.0	.	2668;2668	O75592-2;O75592	.;MYCB2_HUMAN	H	2668;2706;2668;131	ENSP00000349892:D2668H;ENSP00000384288:D2706H;ENSP00000444596:D2668H;ENSP00000353197:D131H	ENSP00000349892:D2668H	D	-	1	0	MYCBP2	76593533	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.471000	0.80985	2.611000	0.88343	0.650000	0.86243	GAT		PASS	0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		9	167	9	167	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329935	88329935	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:88329935C>T	ENST00000325089.6	+	2	2511	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	SLITRK5_ENST00000400028.3_Silent_p.I523I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	764					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.I764I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AAAACCCCATCTACCGCTCCC	0.617																																						uc001vln.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2290-2292)ATC>ATT		SLIT and NTRK-like family, member 5 precursor							73.0	72.0	72.0					13																	88329935		2203	4298	6501	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329935C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2292C>T	13.37:g.88329935C>T						SLITRK5_uc010tic.1_Silent_p.I523I	p.I764I	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2511	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		764			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.2292C>T	CCDS9465.1																																																																																				PASS	0.617	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			15	68	15	68	---	---	---	---
TPP2	7174	broad.mit.edu	37	13	103296993	103296993	+	Silent	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:103296993G>T	ENST00000376065.4	+	18	2298	c.2262G>T	c.(2260-2262)ggG>ggT	p.G754G	TPP2_ENST00000376052.3_Silent_p.G754G	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	754					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.G754G(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTCCATGGGATAGTGTGTA	0.368																																						uc001vpi.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2260-2262)GGG>GGT		tripeptidyl peptidase II							166.0	140.0	148.0					13																	103296993		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103296993G>T	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2262G>T	13.37:g.103296993G>T							p.G754G	NM_003291	NP_003282	P29144	TPP2_HUMAN			18	2365	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		754					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.2262G>T	CCDS9502.1																																																																																				PASS	0.368	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			22	104	22	104	---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113730391	113730391	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:113730391G>C	ENST00000375608.3	+	13	1568	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	MCF2L_ENST00000397030.1_Missense_Mutation_p.E507Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.E472Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.E480Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.E531Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.E504Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.E474Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.E472Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.E478Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.E478Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	504					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E478Q(1)|p.E531Q(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAAGTTTTTGGAGACCGGTGC	0.532																																						uc001vsu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(1591-1593)GAG>CAG		MCF.2 cell line derived transforming							84.0	79.0	81.0					13																	113730391		2203	4300	6503	SO:0001583	missense	23263				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|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113730391G>C	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1510G>C	13.37:g.113730391G>C	ENSP00000364758:p.Glu504Gln					MCF2L_uc001vsq.2_Missense_Mutation_p.E531Q|MCF2L_uc010tjr.1_Missense_Mutation_p.E474Q|MCF2L_uc001vsr.2_Missense_Mutation_p.E478Q|MCF2L_uc001vss.3_Missense_Mutation_p.E472Q|MCF2L_uc010tjs.1_Missense_Mutation_p.E472Q|MCF2L_uc001vst.1_Missense_Mutation_p.E436Q	p.E531Q	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			12	1613	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	504			Potential.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.1591G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.17|15.17	2.755131|2.755131	0.49362|0.49362	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017	T;T;T;T;T;T;T;T;T;T|.	0.24723|.	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.165787|.	0.51477|.	D|.	0.000090|.	T|T	0.78578|0.78578	0.4305|0.4305	M|M	0.80422|0.80422	2.495|2.495	0.35433|0.35433	D|D	0.7942|0.7942	P;P;D;P;P;P|.	0.55800|.	0.907;0.907;0.973;0.57;0.75;0.913|.	P;P;P;B;P;P|.	0.53450|.	0.642;0.642;0.726;0.317;0.624;0.536|.	D|D	0.84038|0.84038	0.0363|0.0363	10|5	0.46703|.	T|.	0.11|.	.|.	18.9722|18.9722	0.92719|0.92719	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	472;474;531;436;472;504|.	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068|.	.;.;.;.;.;MCF2L_HUMAN|.	Q|A	504;504;531;507;474;478;478;480;472;472;315|134	ENSP00000364758:E504Q;ENSP00000401422:E504Q;ENSP00000364754:E531Q;ENSP00000380225:E507Q;ENSP00000440374:E474Q;ENSP00000397285:E478Q;ENSP00000364751:E478Q;ENSP00000407722:E480Q;ENSP00000405639:E472Q;ENSP00000364747:E472Q|.	ENSP00000364747:E472Q|.	E|G	+|+	1|2	0|0	MCF2L|MCF2L	112778392|112778392	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.013000|0.013000	0.08279|0.08279	6.165000|6.165000	0.71891|0.71891	2.478000|2.478000	0.83669|0.83669	0.650000|0.650000	0.86243|0.86243	GAG|GGA		PASS	0.532	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			12	36	12	36	---	---	---	---
CDC16	8881	broad.mit.edu	37	13	115009418	115009418	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:115009418C>A	ENST00000356221.3	+	8	829	c.721C>A	c.(721-723)Cat>Aat	p.H241N	CDC16_ENST00000375308.1_Missense_Mutation_p.H147N|CDC16_ENST00000252457.5_Missense_Mutation_p.H240N|MIR548AR_ENST00000582191.1_RNA|CDC16_ENST00000375312.3_Missense_Mutation_p.H147N|CDC16_ENST00000360383.3_Missense_Mutation_p.H241N|CDC16_ENST00000375310.1_Missense_Mutation_p.H147N|CDC16_ENST00000252458.6_Missense_Mutation_p.H147N			Q13042	CDC16_HUMAN	cell division cycle 16	241					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)		p.H240N(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AGCTGAGAGACATTATTATAA	0.378																																						uc001vuk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(721-723)CAT>AAT		anaphase-promoting complex, subunit 6							215.0	198.0	204.0					13																	115009418		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115009418C>A	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.721C>A	13.37:g.115009418C>A	ENSP00000348554:p.His241Asn					CDC16_uc001vul.1_Missense_Mutation_p.H241N|CDC16_uc001vum.1_Missense_Mutation_p.H147N|CDC16_uc001vun.1_Missense_Mutation_p.H240N|CDC16_uc001vuo.1_Missense_Mutation_p.H240N	p.H241N	NM_003903	NP_003894	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		8	919	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	241					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.721C>A	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829728	0.50845	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T	0.52526	0.66;0.66	5.85	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	L	0.34521	1.04	0.58432	D	0.999999	B;B;B	0.30605	0.287;0.153;0.19	B;B;B	0.37833	0.259;0.182;0.088	T	0.18023	-1.0350	9	.	.	.	-24.4945	14.7662	0.69640	0.1437:0.8563:0.0:0.0	.	240;240;241	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	N	241;147;241;147;240;147;147	ENSP00000364459:H147N;ENSP00000364457:H147N	.	H	+	1	0	CDC16	114027520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.372000	0.66156	2.772000	0.95346	0.637000	0.83480	CAT		PASS	0.378	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		24	101	24	101	---	---	---	---
OR6S1	341799	broad.mit.edu	37	14	21109424	21109424	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:21109424A>C	ENST00000320704.3	-	1	426	c.427T>G	c.(427-429)Tgc>Ggc	p.C143G		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C143G(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		ACACGAAAGCACACAGCCCCA	0.607																																						uc001vxv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(427-429)TGC>GGC		olfactory receptor, family 6, subfamily S,							94.0	74.0	81.0					14																	21109424		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109424A>C	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.427T>G	14.37:g.21109424A>C	ENSP00000313110:p.Cys143Gly						p.C143G	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	427	-	all_cancers(95;0.00304)		143			Cytoplasmic (Potential).		Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.427T>G	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.151898	0.38021	.	.	ENSG00000181803	ENST00000320704	T	0.00224	8.51	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000049	T	0.00845	0.0028	H	0.94503	3.545	0.19300	N	0.999971	D	0.71674	0.998	D	0.73708	0.981	T	0.25641	-1.0126	10	0.87932	D	0	-16.2299	14.0276	0.64594	1.0:0.0:0.0:0.0	.	143	Q8NH40	OR6S1_HUMAN	G	143	ENSP00000313110:C143G	ENSP00000313110:C143G	C	-	1	0	OR6S1	20179264	0.999000	0.42202	0.961000	0.40146	0.538000	0.34931	4.638000	0.61353	2.193000	0.70182	0.533000	0.62120	TGC		PASS	0.607	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			9	55	9	55	---	---	---	---
RNASE3	6037	broad.mit.edu	37	14	21359978	21359978	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:21359978C>G	ENST00000304639.3	+	2	191	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	45	Required for nearly all of the bactericidal activity; partially involved in LPS-binding and bacterial membrane depolarization.				antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)	p.L45V(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GCACATCAGTCTGAACCCCCC	0.488																																						uc001vyj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)CTG>GTG		ribonuclease, RNase A family, 3 (eosinophil	Pranlukast(DB01411)						109.0	115.0	113.0					14																	21359978		2191	4300	6491	SO:0001583	missense	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21359978C>G	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.133C>G	14.37:g.21359978C>G	ENSP00000302324:p.Leu45Val						p.L45V	NM_002935	NP_002926	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	187	+	all_cancers(95;0.00453)		45					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Missense_Mutation	SNP	ENST00000304639.3	37	c.133C>G	CCDS9560.1	.	.	.	.	.	.	.	.	.	.	c	0.095	-1.160463	0.01686	.	.	ENSG00000169397	ENST00000304639	T	0.72505	-0.66	2.56	-0.0173	0.13968	Ribonuclease A, domain (4);	3.012850	0.01674	N	0.025788	T	0.53061	0.1773	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35649	-0.9780	10	0.12766	T	0.61	.	8.834	0.35102	0.3781:0.6219:0.0:0.0	.	45	P12724	ECP_HUMAN	V	45	ENSP00000302324:L45V	ENSP00000302324:L45V	L	+	1	2	RNASE3	20429818	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.132000	0.03235	-0.314000	0.08716	-2.738000	0.00128	CTG		PASS	0.488	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		34	179	34	179	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21552086	21552086	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:21552086G>A	ENST00000298694.4	+	17	3793	c.3666G>A	c.(3664-3666)ctG>ctA	p.L1222L	ARHGEF40_ENST00000298693.3_Silent_p.L1222L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1222	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1222L(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGGAGCTCCTGAGGGAAGCTG	0.667																																						uc001vzp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3664-3666)CTG>CTA		hypothetical protein LOC55701							28.0	30.0	30.0					14																	21552086		2203	4300	6503	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21552086G>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.3666G>A	14.37:g.21552086G>A						FLJ10357_uc001vzo.1_Silent_p.L301L|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Silent_p.L508L	p.L1222L	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	17	3695	+	all_cancers(95;0.00185)		1222			DH.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.3666G>A	CCDS32041.1																																																																																				PASS	0.667	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			12	66	12	66	---	---	---	---
PRMT5	10419	broad.mit.edu	37	14	23393852	23393852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:23393852G>A	ENST00000324366.8	-	9	1229	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397440.4_Nonsense_Mutation_p.Q165*|PRMT5_ENST00000553641.1_5'Flank|PRMT5_ENST00000553897.1_Nonsense_Mutation_p.Q292*|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397441.2_Nonsense_Mutation_p.Q319*|PRMT5_ENST00000538452.1_Nonsense_Mutation_p.Q230*|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Nonsense_Mutation_p.Q275*|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	336	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.Q336E(1)|p.Q336*(1)|p.Q319*(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TGCTGGTACTGAGAGTATTTG	0.493																																						uc001whm.1																			3	Substitution - Nonsense(2)|Substitution - Missense(1)	p.Q336E(1)	lung(2)|ovary(1)	ovary(1)	1						c.(1006-1008)CAG>TAG		protein arginine methyltransferase 5 isoform a							102.0	91.0	95.0					14																	23393852		2203	4300	6503	SO:0001587	stop_gained	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23393852G>A	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1006C>T	14.37:g.23393852G>A	ENSP00000319169:p.Gln336*					PRMT5_uc001whl.1_Nonsense_Mutation_p.Q319*|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Nonsense_Mutation_p.Q230*|PRMT5_uc010tng.1_Nonsense_Mutation_p.Q275*|PRMT5_uc010tnh.1_Nonsense_Mutation_p.Q292*|PRMT5_uc001whn.1_Nonsense_Mutation_p.Q165*	p.Q336*	NM_006109	NP_006100	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	9	1097	-	all_cancers(95;2.76e-05)		336					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Nonsense_Mutation	SNP	ENST00000324366.8	37	c.1006C>T	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111515	0.77210	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530;ENST00000556043;ENST00000553550	.	.	.	5.92	5.92	0.95590	.	0.154543	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-12.8612	19.0921	0.93231	0.0:0.0:1.0:0.0	.	.	.	.	X	336;319;165;275;230;292;79;231;88;182	.	ENSP00000216350:Q275X	Q	-	1	0	PRMT5	22463692	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.550000	0.90675	2.813000	0.96785	0.561000	0.74099	CAG		PASS	0.493	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			10	112	10	112	---	---	---	---
AP1G2	8906	broad.mit.edu	37	14	24030804	24030804	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:24030804C>T	ENST00000308724.5	-	17	2529	c.1774G>A	c.(1774-1776)Ggc>Agc	p.G592S	RP11-66N24.4_ENST00000553985.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.G592S|RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	592					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.G592S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GCCTGAGGGCCATCTCGCTCC	0.552																																						uc001wkl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1774-1776)GGC>AGC		adaptor-related protein complex 1, gamma 2							67.0	57.0	60.0					14																	24030804		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24030804C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1774G>A	14.37:g.24030804C>T	ENSP00000312442:p.Gly592Ser					AP1G2_uc001wkj.2_Missense_Mutation_p.G211S|AP1G2_uc001wkk.3_Missense_Mutation_p.G520S|AP1G2_uc001wkn.2_Missense_Mutation_p.G211S|uc001wko.1_RNA|AP1G2_uc001wkp.1_RNA	p.G592S	NM_003917	NP_003908	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	18	2111	-	all_cancers(95;0.000251)		592					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.1774G>A	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361785	0.24684	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852;ENST00000554477	T;T	0.12361	2.69;2.69	4.9	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.765681	0.12478	N	0.465426	T	0.10937	0.0267	L	0.41710	1.295	0.09310	N	1	B;B	0.15473	0.003;0.013	B;B	0.12156	0.004;0.007	T	0.38585	-0.9654	10	0.13470	T	0.59	-2.4336	9.2099	0.37311	0.0:0.8232:0.0:0.1768	.	592;447	O75843;Q86V28	AP1G2_HUMAN;.	S	592;592;361;447;54	ENSP00000312442:G592S;ENSP00000380309:G592S	ENSP00000312442:G592S	G	-	1	0	AP1G2	23100644	0.000000	0.05858	0.031000	0.17742	0.678000	0.39670	0.060000	0.14342	0.685000	0.31468	0.511000	0.50034	GGC		PASS	0.552	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		5	79	5	79	---	---	---	---
PSME2	5721	broad.mit.edu	37	14	24614467	24614467	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:24614467G>C	ENST00000216802.5	-	5	886	c.247C>G	c.(247-249)Cag>Gag	p.Q83E	PSME2_ENST00000471700.2_5'UTR|RNF31_ENST00000324103.6_5'Flank|PSME2_ENST00000560410.1_Missense_Mutation_p.Q72E|RNF31_ENST00000559275.1_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	83					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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)		p.Q83E(1)		endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TTCTTCTCCTGCTTATCTGTT	0.458																																						uc001wmj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)CAG>GAG		proteasome activator subunit 2							127.0	130.0	129.0					14																	24614467		2203	4300	6503	SO:0001583	missense	5721				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|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex		g.chr14:24614467G>C		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"""Proteasome (prosome, macropain) subunits"""	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.247C>G	14.37:g.24614467G>C	ENSP00000216802:p.Gln83Glu					PSME2_uc001wmk.2_Missense_Mutation_p.Q6E|RNF31_uc001wml.1_5'Flank|RNF31_uc001wmm.1_5'Flank|RNF31_uc001wmn.1_5'Flank|RNF31_uc010alg.1_5'Flank	p.Q83E	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	5	312	-			83					Q15129	Missense_Mutation	SNP	ENST00000216802.5	37	c.247C>G	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	G	0.689	-0.795134	0.02862	.	.	ENSG00000100911	ENST00000216802	T	0.21031	2.03	4.97	4.97	0.65823	.	0.593556	0.19601	N	0.110391	T	0.08935	0.0221	N	0.04132	-0.27	0.29025	N	0.886042	B	0.02656	0.0	B	0.01281	0.0	T	0.10520	-1.0626	10	0.02654	T	1	-26.7468	13.597	0.61996	0.0:0.0:1.0:0.0	.	83	Q9UL46	PSME2_HUMAN	E	83	ENSP00000216802:Q83E	ENSP00000216802:Q83E	Q	-	1	0	PSME2	23684307	0.997000	0.39634	0.999000	0.59377	0.999000	0.98932	1.782000	0.38654	2.570000	0.86706	0.655000	0.94253	CAG		PASS	0.458	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818		21	134	21	134	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24723420	24723420	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:24723420G>A	ENST00000206765.6	-	14	2286	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	TGM1_ENST00000544573.1_Silent_p.L279L	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	721					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.L721L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CGACATTGGTGAGGGTGACGG	0.572																																						uc001wod.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2161-2163)CTC>CTT		transglutaminase 1	L-Glutamine(DB00130)						94.0	69.0	77.0					14																	24723420		2203	4300	6503	SO:0001819	synonymous_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24723420G>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.2163C>T	14.37:g.24723420G>A						TGM1_uc010tog.1_Silent_p.L279L	p.L721L	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	14	2287	-			721					B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	c.2163C>T	CCDS9622.1																																																																																				PASS	0.572	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		13	48	13	48	---	---	---	---
COCH	1690	broad.mit.edu	37	14	31354661	31354661	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:31354661G>C	ENST00000396618.3	+	10	851	c.795G>C	c.(793-795)ggG>ggC	p.G265G	RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000216361.4_Silent_p.G265G|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000382493.4_Silent_p.G116G|COCH_ENST00000460581.2_Silent_p.G153G|COCH_ENST00000475087.1_Silent_p.G265G|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000556786.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	265	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.G265G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TAAGAAAAGGGATCCCCAAAG	0.418																																						uc001wqr.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(793-795)GGG>GGC		cochlin precursor							150.0	137.0	142.0					14																	31354661		2203	4300	6503	SO:0001819	synonymous_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31354661G>C		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.795G>C	14.37:g.31354661G>C						COCH_uc001wqp.2_Silent_p.G265G|COCH_uc001wqq.3_Silent_p.G265G|uc001wqs.2_RNA|COCH_uc001wqt.1_Silent_p.G116G	p.G265G	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	10	875	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		265			VWFA 1.		A8K9K9|D3DS84|Q96IU6	Silent	SNP	ENST00000396618.3	37	c.795G>C	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095884	0.36952	.	.	ENSG00000100473	ENST00000468826	T	0.40756	1.02	5.6	1.25	0.21368	.	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07481	-1.0770	6	.	.	.	-9.7623	2.508	0.04650	0.2444:0.3205:0.3288:0.1063	.	.	.	.	A	149	ENSP00000452284:G149A	.	G	+	2	0	COCH	30424412	0.546000	0.26457	1.000000	0.80357	0.995000	0.86356	-0.125000	0.10579	0.280000	0.22209	0.650000	0.86243	GGA		PASS	0.418	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		20	172	20	172	---	---	---	---
COCH	1690	broad.mit.edu	37	14	31355340	31355340	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:31355340C>T	ENST00000396618.3	+	11	1355	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000216361.4_Silent_p.V433V|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000382493.4_Silent_p.V284V|COCH_ENST00000460581.2_Silent_p.V321V|COCH_ENST00000475087.1_Silent_p.V433V|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000556786.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	433	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.V433V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCCTAGCTGTCATCAGAAACA	0.463																																						uc001wqr.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1297-1299)GTC>GTT		cochlin precursor							149.0	124.0	133.0					14																	31355340		2203	4300	6503	SO:0001819	synonymous_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355340C>T		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1299C>T	14.37:g.31355340C>T						COCH_uc001wqp.2_Silent_p.V433V|COCH_uc001wqq.3_Silent_p.V433V|uc001wqs.2_RNA|COCH_uc001wqt.1_Silent_p.V284V	p.V433V	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	11	1379	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		433			VWFA 2.		A8K9K9|D3DS84|Q96IU6	Silent	SNP	ENST00000396618.3	37	c.1299C>T	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	T	8.700	0.909588	0.17833	.	.	ENSG00000100473	ENST00000468826	.	.	.	6.02	-3.12	0.05282	.	.	.	.	.	T	0.51160	0.1658	.	.	.	0.46725	D	0.999179	.	.	.	.	.	.	T	0.48222	-0.9054	4	.	.	.	-15.7345	7.8161	0.29260	0.0:0.3127:0.2737:0.4136	.	.	.	.	L	317	.	.	S	+	2	0	COCH	30425091	0.674000	0.27549	0.554000	0.28268	0.658000	0.38924	-0.019000	0.12546	-0.405000	0.07599	-1.189000	0.01698	TCA		PASS	0.463	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		30	211	30	211	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35263991	35263991	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:35263991C>G	ENST00000382422.2	-	10	1654	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	BAZ1A_ENST00000360310.1_Missense_Mutation_p.D443H|BAZ1A_ENST00000358716.4_Missense_Mutation_p.D443H			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	443	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				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.D443H(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)		TCTTGAAGATCAAAAAGTTCC	0.373																																						uc001wsk.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(1327-1329)GAT>CAT		bromodomain adjacent to zinc finger domain, 1A							95.0	91.0	93.0					14																	35263991		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35263991C>G	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.1327G>C	14.37:g.35263991C>G	ENSP00000371859:p.Asp443His					BAZ1A_uc001wsl.2_Missense_Mutation_p.D443H	p.D443H	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)	11	1895	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		443			DDT.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.1327G>C	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931915	0.92389	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.57107	0.42;0.42;0.42	5.92	5.92	0.95590	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	0.048650	0.85682	D	0.000000	T	0.68622	0.3021	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.60250	-0.7300	10	0.25751	T	0.34	.	20.3151	0.98650	0.0:1.0:0.0:0.0	.	443;443	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	H	443;443;443;127	ENSP00000351555:D443H;ENSP00000371859:D443H;ENSP00000353458:D443H	ENSP00000351555:D443H	D	-	1	0	BAZ1A	34333742	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.771000	0.85420	2.809000	0.96659	0.467000	0.42956	GAT		PASS	0.373	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			15	160	15	160	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35295249	35295249	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:35295249G>C	ENST00000382422.2	-	3	833	c.506C>G	c.(505-507)tCa>tGa	p.S169*	BAZ1A_ENST00000360310.1_Nonsense_Mutation_p.S169*|BAZ1A_ENST00000553853.1_5'Flank|BAZ1A_ENST00000358716.4_Nonsense_Mutation_p.S169*			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	169					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.S169*(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)		TTGTGTTTCTGAATCATCACT	0.313																																						uc001wsk.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(505-507)TCA>TGA		bromodomain adjacent to zinc finger domain, 1A							76.0	63.0	68.0					14																	35295249		2202	4300	6502	SO:0001587	stop_gained	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35295249G>C	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.506C>G	14.37:g.35295249G>C	ENSP00000371859:p.Ser169*					BAZ1A_uc001wsl.2_Nonsense_Mutation_p.S169*|BAZ1A_uc001wsm.1_Nonsense_Mutation_p.S169*	p.S169*	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)	4	1074	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		169					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Nonsense_Mutation	SNP	ENST00000382422.2	37	c.506C>G	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	G	42	9.192936	0.99096	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	.	.	.	5.5	5.5	0.81552	.	0.134936	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.5856	0.87980	0.0:0.0:1.0:0.0	.	.	.	.	X	169	.	ENSP00000351555:S169X	S	-	2	0	BAZ1A	34365000	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.955000	0.70306	2.579000	0.87056	0.655000	0.94253	TCA		PASS	0.313	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			5	21	5	21	---	---	---	---
NKX2-1	7080	broad.mit.edu	37	14	36986504	36986504	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:36986504C>T	ENST00000518149.1	-	3	1700	c.1095G>A	c.(1093-1095)ttG>ttA	p.L365L	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_Silent_p.L365L|NKX2-1_ENST00000522719.2_Silent_p.L365L|NKX2-1_ENST00000354822.5_Silent_p.L395L			P43699	NKX21_HUMAN	NK2 homeobox 1	365					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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 migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L365L(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GACCGTATAGCAAGGTGGAGC	0.697			A		NSCLC																																	uc001wtt.2				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1093-1095)TTG>TTA		thyroid transcription factor 1 isoform 2							31.0	26.0	27.0					14																	36986504		2203	4300	6503	SO:0001819	synonymous_variant	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36986504C>T		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.1095G>A	14.37:g.36986504C>T						SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Silent_p.L395L|NKX2-1_uc001wtv.2_Silent_p.L365L|uc001wtw.1_5'Flank	p.L365L	NM_003317	NP_003308	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	2	1436	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		365					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Silent	SNP	ENST00000518149.1	37	c.1095G>A	CCDS9659.1																																																																																				PASS	0.697	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		3	12	3	12	---	---	---	---
PNN	5411	broad.mit.edu	37	14	39649715	39649715	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:39649715G>C	ENST00000216832.4	+	9	869	c.802G>C	c.(802-804)Gaa>Caa	p.E268Q	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	268	Glu-rich.|Necessary for interaction with RNPS1.|Sufficient for PSAP complex assembly.			E -> D (in Ref. 1; AAB48304). {ECO:0000305}.	cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E268Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AGCTTTATTTGAAGGTAGACG	0.318																																						uc001wuw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(802-804)GAA>CAA		pinin, desmosome associated protein							39.0	42.0	41.0					14																	39649715		2201	4300	6501	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39649715G>C	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.802G>C	14.37:g.39649715G>C	ENSP00000216832:p.Glu268Gln						p.E268Q	NM_002687	NP_002678	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	9	899	+	Hepatocellular(127;0.213)		268	E -> D (in Ref. 1; AAB48304).		Necessary for interaction with RNPS1.|Glu-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.802G>C	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409289	0.62399	.	.	ENSG00000100941	ENST00000216832	T	0.38077	1.16	5.76	5.76	0.90799	.	0.044163	0.85682	D	0.000000	T	0.51227	0.1662	L	0.59436	1.845	0.80722	D	1	D	0.59357	0.985	P	0.53006	0.715	T	0.50162	-0.8860	10	0.62326	D	0.03	-11.0311	19.9664	0.97271	0.0:0.0:1.0:0.0	.	268	Q9H307	PININ_HUMAN	Q	268	ENSP00000216832:E268Q	ENSP00000216832:E268Q	E	+	1	0	PNN	38719466	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.994000	0.76251	2.718000	0.92993	0.655000	0.94253	GAA		PASS	0.318	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		9	72	9	72	---	---	---	---
MIA2	117153	broad.mit.edu	37	14	39722273	39722273	+	Splice_Site	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:39722273A>T	ENST00000280082.3	+	6	1985		c.e6-1		RP11-407N17.3_ENST00000553728.1_Splice_Site	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2						cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.?(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATAAATCAACAGAAGATGCTT	0.254																																						uc001wux.2																			1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e6-2		melanoma inhibitory activity 2							42.0	45.0	44.0					14																	39722273		2191	4283	6474	SO:0001630	splice_region_variant	117153					extracellular region		g.chr14:39722273A>T	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1787-1A>T	14.37:g.39722273A>T							p.E596_splice	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	6	1981	+	Hepatocellular(127;0.213)							A1L4H0|Q9H6C1	Splice_Site	SNP	ENST00000280082.3	37	c.1787_splice	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677302	0.68042	.	.	ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000553728	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5383	0.56154	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MIA2;RP11-407N17.3	38792024	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.990000	0.49401	2.055000	0.61198	0.477000	0.44152	.		PASS	0.254	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	Intron	23	53	23	53	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975997	44975997	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:44975997C>A	ENST00000340446.4	-	1	485	c.194G>T	c.(193-195)gGa>gTa	p.G65V	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	65						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.G65V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CATTTCCTGTCCATGCTTTCT	0.418																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(193-195)GGA>GTA		fibrous sheath CABYR binding protein							168.0	163.0	164.0					14																	44975997		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975997C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.194G>T	14.37:g.44975997C>A	ENSP00000344579:p.Gly65Val						p.G65V	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	503	-			65					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.194G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	3.239	-0.155733	0.06544	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14766	2.48	5.25	0.784	0.18578	.	.	.	.	.	T	0.06554	0.0168	N	0.04018	-0.295	0.23795	N	0.996823	P	0.41393	0.748	B	0.38562	0.276	T	0.37619	-0.9698	9	0.25751	T	0.34	-1.4842	12.4952	0.55923	0.4682:0.5318:0.0:0.0	.	65	Q5H9T9	FSCB_HUMAN	V	65	ENSP00000344579:G65V	ENSP00000344579:G65V	G	-	2	0	FSCB	44045747	0.002000	0.14202	0.082000	0.20525	0.243000	0.25628	-0.001000	0.12947	0.227000	0.20999	0.555000	0.69702	GGA		PASS	0.418	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		50	329	50	329	---	---	---	---
KLHDC1	122773	broad.mit.edu	37	14	50176427	50176427	+	Splice_Site	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:50176427G>A	ENST00000359332.2	+	3	258	c.168G>A	c.(166-168)tgG>tgA	p.W56*	RP11-831F12.2_ENST00000557160.1_RNA	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	56						cytoplasm (GO:0005737)		p.W56*(1)		kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					CTTGCTGCAGGAGAATGCACC	0.413																																						uc001www.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(166-168)TGG>TGA		kelch domain containing 1							93.0	84.0	87.0					14																	50176427		2203	4300	6503	SO:0001630	splice_region_variant	122773					cytoplasm		g.chr14:50176427G>A	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.168-1G>A	14.37:g.50176427G>A						SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_Missense_Mutation_p.G20E|KLHDC1_uc010tqh.1_5'UTR	p.W56*	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN			3	196	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		56			Kelch 1.		B3KXD9|Q8WYI1	Nonsense_Mutation	SNP	ENST00000359332.2	37	c.168G>A	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437497	0.96168	.	.	ENSG00000197776	ENST00000359332	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2844	0.94065	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	.	W	+	3	0	KLHDC1	49246177	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.991000	0.88244	2.616000	0.88540	0.551000	0.68910	TGG		PASS	0.413	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193	Nonsense_Mutation	23	88	23	88	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51223634	51223634	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:51223634C>G	ENST00000382041.3	-	18	4304	c.4114G>C	c.(4114-4116)Gag>Cag	p.E1372Q	NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.E1372Q|NIN_ENST00000453196.1_Missense_Mutation_p.E1372Q|NIN_ENST00000245441.5_Missense_Mutation_p.E1372Q|NIN_ENST00000530997.2_Missense_Mutation_p.E1372Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1372					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.E1372Q(2)|p.E1378Q(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ggcacacactcttccagtgtc	0.468			T	PDGFRB	MPD																																	uc001wym.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(4114-4116)GAG>CAG		ninein isoform 5							56.0	42.0	47.0					14																	51223634		2191	4271	6462	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51223634C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4114G>C	14.37:g.51223634C>G	ENSP00000371472:p.Glu1372Gln					NIN_uc001wyi.2_Missense_Mutation_p.E1372Q|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.E1378Q|NIN_uc001wyo.2_Missense_Mutation_p.E1372Q	p.E1372Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			18	4305	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1372					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.4114G>C	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.11|12.11	1.838433|1.838433	0.32513|0.32513	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.08984|.	3.3;3.03;3.03;3.03|.	5.32|5.32	3.44|3.44	0.39384|0.39384	.|.	0.456211|.	0.21420|.	N|.	0.074835|.	T|T	0.46852|0.46852	0.1414|0.1414	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.34015|.	0.066;0.013;0.063;0.435|.	B;B;B;B|.	0.31101|.	0.02;0.01;0.022;0.124|.	T|T	0.32666|0.32666	-0.9898|-0.9898	10|5	0.48119|.	T|.	0.1|.	-4.2069|-4.2069	10.7308|10.7308	0.46096|0.46096	0.0:0.7471:0.1665:0.0864|0.0:0.7471:0.1665:0.0864	.|.	1378;1372;1372;1372|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	Q|T	1372;1355;1378;1372;1372;1372|862	ENSP00000245441:E1372Q;ENSP00000371472:E1372Q;ENSP00000324210:E1372Q;ENSP00000412391:E1372Q|.	ENSP00000245441:E1372Q|.	E|R	-|-	1|2	0|0	NIN|NIN	50293384|50293384	0.172000|0.172000	0.23043|0.23043	0.019000|0.019000	0.16419|0.16419	0.090000|0.090000	0.18270|0.18270	2.172000|2.172000	0.42463|0.42463	1.234000|1.234000	0.43709|0.43709	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.468	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		3	12	3	12	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51224085	51224085	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:51224085T>A	ENST00000382041.3	-	18	3853	c.3663A>T	c.(3661-3663)aaA>aaT	p.K1221N	NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.K1221N|NIN_ENST00000453196.1_Missense_Mutation_p.K1221N|NIN_ENST00000245441.5_Missense_Mutation_p.K1221N|NIN_ENST00000530997.2_Missense_Mutation_p.K1221N	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1221					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.K1221N(2)|p.K1227N(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTAGGTCCTGTTTCTTTTCAG	0.418			T	PDGFRB	MPD																																	uc001wym.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(3661-3663)AAA>AAT		ninein isoform 5							99.0	102.0	101.0					14																	51224085		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224085T>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3663A>T	14.37:g.51224085T>A	ENSP00000371472:p.Lys1221Asn					NIN_uc001wyi.2_Missense_Mutation_p.K1221N|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.K1227N|NIN_uc001wyo.2_Missense_Mutation_p.K1221N	p.K1221N	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			18	3854	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1221			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.3663A>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.10|16.10	3.027469|3.027469	0.54683|0.54683	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.08634|.	3.34;3.07;3.07;3.07|.	5.93|5.93	-4.44|-4.44	0.03557|0.03557	.|.	0.550974|.	0.19830|.	N|.	0.105102|.	T|T	0.41236|0.41236	0.1150|0.1150	M|M	0.67953|0.67953	2.075|2.075	0.21627|0.21627	N|N	0.999616|0.999616	B;B;D;D|.	0.89917|.	0.404;0.404;1.0;1.0|.	B;B;D;D|.	0.85130|.	0.285;0.178;0.997;0.996|.	T|T	0.47560|0.47560	-0.9108|-0.9108	10|5	0.21014|.	T|.	0.42|.	-26.9462|-26.9462	5.7081|5.7081	0.17919|0.17919	0.1564:0.4873:0.0899:0.2664|0.1564:0.4873:0.0899:0.2664	.|.	1227;1221;1221;1221|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	N|S	1221;1204;1227;1221;1221;1221|712	ENSP00000245441:K1221N;ENSP00000371472:K1221N;ENSP00000324210:K1221N;ENSP00000412391:K1221N|.	ENSP00000245441:K1221N|.	K|T	-|-	3|1	2|0	NIN|NIN	50293835|50293835	0.024000|0.024000	0.19004|0.19004	0.953000|0.953000	0.39169|0.39169	0.924000|0.924000	0.55760|0.55760	-1.446000|-1.446000	0.02398|0.02398	-0.661000|-0.661000	0.05345|0.05345	0.460000|0.460000	0.39030|0.39030	AAA|ACA		PASS	0.418	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		62	314	62	314	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53521243	53521243	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:53521243C>G	ENST00000323669.5	-	11	2349	c.2350G>C	c.(2350-2352)Gag>Cag	p.E784Q	DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000395606.1_Missense_Mutation_p.E791Q|DDHD1_ENST00000357758.3_Missense_Mutation_p.E784Q	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	784	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.E784Q(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GGCTTCTTCTCATCTTCCATT	0.453																																						uc001xai.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2350-2352)GAG>CAG		DDHD domain containing 1 isoform c							239.0	169.0	192.0					14																	53521243		2203	4300	6503	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53521243C>G	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2350G>C	14.37:g.53521243C>G	ENSP00000327104:p.Glu784Gln					DDHD1_uc001xaj.2_Missense_Mutation_p.E791Q|DDHD1_uc001xah.2_Missense_Mutation_p.E784Q|DDHD1_uc001xag.2_Missense_Mutation_p.E366Q|DDHD1_uc001xak.1_Missense_Mutation_p.E180Q	p.E784Q	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			11	2580	-	Breast(41;0.037)		784			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2350G>C	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109606	0.56398	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.71	4.81	0.61882	DDHD (2);	0.349138	0.36338	N	0.002641	T	0.51415	0.1673	L	0.46157	1.445	0.29205	N	0.874986	B;P;P;P	0.44734	0.175;0.842;0.615;0.817	B;P;P;P	0.50617	0.16;0.452;0.646;0.636	T	0.48736	-0.9009	9	0.35671	T	0.21	-6.7143	14.1112	0.65121	0.0:0.928:0.0:0.072	.	180;791;784;784	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	Q	784;791;784;655	.	ENSP00000327104:E784Q	E	-	1	0	DDHD1	52590993	0.995000	0.38212	0.958000	0.39756	0.204000	0.24138	3.384000	0.52478	2.683000	0.91414	0.650000	0.86243	GAG		PASS	0.453	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			24	146	24	146	---	---	---	---
WDHD1	11169	broad.mit.edu	37	14	55475034	55475034	+	Splice_Site	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:55475034C>A	ENST00000360586.3	-	6	569	c.504G>T	c.(502-504)caG>caT	p.Q168H	WDHD1_ENST00000421192.1_Splice_Site_p.Q45H|WDHD1_ENST00000420358.2_Splice_Site_p.Q45H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	168					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.Q168H(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTGAGTTTACCTGATCTGAAA	0.328																																						uc001xbm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(502-504)CAG>CAT		WD repeat and HMG-box DNA binding protein 1							44.0	42.0	42.0					14																	55475034		2203	4299	6502	SO:0001630	splice_region_variant	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55475034C>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.504+1G>T	14.37:g.55475034C>A						WDHD1_uc001xbn.1_Missense_Mutation_p.Q45H	p.Q168H	NM_007086	NP_009017	O75717	WDHD1_HUMAN			6	582	-			168			WD 4.		C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.504G>T	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.381097	0.82792	.	.	ENSG00000198554	ENST00000360586;ENST00000421192;ENST00000420358;ENST00000455555	T;T;T;T	0.75154	5.0;-0.1;-0.1;-0.91	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79405	0.4440	L	0.33710	1.025	0.80722	D	1	D	0.64830	0.994	D	0.64144	0.922	T	0.76495	-0.2938	9	.	.	.	.	18.9058	0.92460	0.0:1.0:0.0:0.0	.	168	O75717	WDHD1_HUMAN	H	168;45;45;168	ENSP00000353793:Q168H;ENSP00000391049:Q45H;ENSP00000399349:Q45H;ENSP00000413435:Q168H	.	Q	-	3	2	WDHD1	54544784	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.390000	0.52523	2.785000	0.95823	0.591000	0.81541	CAG		PASS	0.328	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	Missense_Mutation	13	72	13	72	---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510378	55510378	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:55510378G>C	ENST00000395472.2	+	2	951	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q	SOCS4_ENST00000555846.1_Missense_Mutation_p.E207Q|SOCS4_ENST00000339298.2_Missense_Mutation_p.E207Q	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	207					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.E207Q(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TTTGTGTAGAGAAGGTCCTAT	0.383																																						uc001xbo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(619-621)GAA>CAA		suppressor of cytokine signaling 4							117.0	108.0	111.0					14																	55510378		2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510378G>C	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.619G>C	14.37:g.55510378G>C	ENSP00000378855:p.Glu207Gln					SOCS4_uc001xbp.2_Missense_Mutation_p.E207Q	p.E207Q	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN			3	1184	+			207						Missense_Mutation	SNP	ENST00000395472.2	37	c.619G>C	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.629865	0.00813	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.29655	1.56;1.56;1.56	4.86	0.567	0.17325	.	1.060550	0.07349	N	0.882094	T	0.13372	0.0324	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29488	-1.0010	10	0.25751	T	0.34	-3.6285	2.3883	0.04371	0.1598:0.2146:0.45:0.1755	.	207	Q8WXH5	SOCS4_HUMAN	Q	207	ENSP00000378855:E207Q;ENSP00000452522:E207Q;ENSP00000341327:E207Q	ENSP00000341327:E207Q	E	+	1	0	SOCS4	54580131	0.334000	0.24739	0.033000	0.17914	0.008000	0.06430	0.566000	0.23593	0.257000	0.21650	0.460000	0.39030	GAA		PASS	0.383	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			34	198	34	198	---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510516	55510516	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:55510516G>T	ENST00000395472.2	+	2	1089	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	SOCS4_ENST00000555846.1_Missense_Mutation_p.D253Y|SOCS4_ENST00000339298.2_Missense_Mutation_p.D253Y	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	253					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.D253Y(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GGATTTGGATGATGAAATCCT	0.383																																						uc001xbo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(757-759)GAT>TAT		suppressor of cytokine signaling 4							104.0	90.0	95.0					14																	55510516		2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510516G>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.757G>T	14.37:g.55510516G>T	ENSP00000378855:p.Asp253Tyr					SOCS4_uc001xbp.2_Missense_Mutation_p.D253Y	p.D253Y	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN			3	1322	+			253						Missense_Mutation	SNP	ENST00000395472.2	37	c.757G>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285220	0.40394	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.32988	1.43;1.43;1.43	5.98	5.09	0.68999	.	0.421368	0.23881	N	0.043655	T	0.26195	0.0639	N	0.19112	0.55	0.41152	D	0.986031	P	0.36789	0.57	B	0.40101	0.319	T	0.09930	-1.0652	10	0.59425	D	0.04	-6.765	15.3226	0.74135	0.0668:0.0:0.9332:0.0	.	253	Q8WXH5	SOCS4_HUMAN	Y	253	ENSP00000378855:D253Y;ENSP00000452522:D253Y;ENSP00000341327:D253Y	ENSP00000341327:D253Y	D	+	1	0	SOCS4	54580269	1.000000	0.71417	0.148000	0.22405	0.964000	0.63967	6.923000	0.75817	1.534000	0.49203	0.650000	0.86243	GAT		PASS	0.383	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			24	107	24	107	---	---	---	---
ACTR10	55860	broad.mit.edu	37	14	58701237	58701237	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:58701237C>T	ENST00000254286.4	+	13	1302	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	408					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)		p.L408L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TCAACCACCTCTGATGAAGAG	0.348																																						uc001xdf.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1222-1224)CTG>TTG		uncharacterized hypothalamus protein HARP11							86.0	81.0	83.0					14																	58701237		2203	4300	6503	SO:0001819	synonymous_variant	55860					cytoplasm		g.chr14:58701237C>T	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.1222C>T	14.37:g.58701237C>T						C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Silent_p.L210L|ACTR10_uc001xdh.2_Silent_p.L210L|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Silent_p.L198L	p.L408L	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN			13	1325	+			408					Q9H9Y5|Q9NWY2	Silent	SNP	ENST00000254286.4	37	c.1222C>T	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	C	6.683	0.494639	0.12702	.	.	ENSG00000131966	ENST00000554642	.	.	.	5.78	3.0	0.34707	.	.	.	.	.	T	0.54013	0.1832	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44817	-0.9303	4	.	.	.	-20.6035	5.6771	0.17755	0.1366:0.6499:0.0:0.2135	.	.	.	.	F	139	.	.	S	+	2	0	ACTR10	57770990	0.026000	0.19158	0.996000	0.52242	0.778000	0.44026	0.399000	0.20916	0.470000	0.27294	0.655000	0.94253	TCT		PASS	0.348	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			30	150	30	150	---	---	---	---
L3HYPDH	112849	broad.mit.edu	37	14	59951017	59951017	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:59951017C>T	ENST00000247194.4	-	1	131	c.18G>A	c.(16-18)gcG>gcA	p.A6A	JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000554271.1_5'Flank|JKAMP_ENST00000356057.5_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank|JKAMP_ENST00000556985.1_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	6					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)	p.A6A(1)								L-Proline(DB00172)	GCCGGGGCACCGCCAGCGCGC	0.706																																						uc001xee.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(16-18)GCG>GCA		proline racemase-like	L-Proline(DB00172)						21.0	24.0	23.0					14																	59951017		1959	3875	5834	SO:0001819	synonymous_variant	112849						proline racemase activity	g.chr14:59951017C>T	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.18G>A	14.37:g.59951017C>T						C14orf149_uc010trx.1_Silent_p.A6A|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank|JKAMP_uc001xej.3_5'Flank	p.A6A	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.14)	1	57	-			6					Q96LJ5	Silent	SNP	ENST00000247194.4	37	c.18G>A	CCDS9739.1																																																																																				PASS	0.706	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		9	38	9	38	---	---	---	---
SIX4	51804	broad.mit.edu	37	14	61180302	61180302	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:61180302C>A	ENST00000216513.4	-	3	2228	c.2169G>T	c.(2167-2169)gaG>gaT	p.E723D		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	723					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E723D(2)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATAAGAAATTCTCTTTCATGT	0.423																																						uc001xfc.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	breast(3)|ovary(1)	4						c.(2167-2169)GAG>GAT		sine oculis homeobox homolog 4							112.0	107.0	109.0					14																	61180302		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61180302C>A	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.2169G>T	14.37:g.61180302C>A	ENSP00000216513:p.Glu723Asp						p.E723D	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	3	2169	-			723					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.2169G>T	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822237	0.50739	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.93811	-3.29;0.35	5.63	-0.73	0.11154	.	0.125415	0.36066	N	0.002808	T	0.82079	0.4959	N	0.19112	0.55	0.80722	D	1	B	0.32071	0.355	B	0.24974	0.057	T	0.68949	-0.5274	10	0.87932	D	0	.	2.4645	0.04549	0.1137:0.4621:0.1104:0.3139	.	723	Q9UIU6	SIX4_HUMAN	D	723;396	ENSP00000216513:E723D;ENSP00000451537:E396D	ENSP00000216513:E723D	E	-	3	2	SIX4	60250055	0.809000	0.29036	0.933000	0.37362	0.938000	0.57974	-0.229000	0.09098	-0.336000	0.08438	-0.471000	0.05019	GAG		PASS	0.423	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			20	108	20	108	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64416564	64416564	+	Missense_Mutation	SNP	C	C	G	rs142000273	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:64416564C>G	ENST00000344113.4	+	7	642	c.430C>G	c.(430-432)Ctt>Gtt	p.L144V	SYNE2_ENST00000341472.5_Missense_Mutation_p.L144V|SYNE2_ENST00000356081.3_Missense_Mutation_p.L144V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L144V|SYNE2_ENST00000358025.3_Missense_Mutation_p.L144V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	144	Actin-binding.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L144V(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCCCAGACTCTTTCTTGCAA	0.423													C|||	9	0.00179712	0.0068	0.0	5008	,	,		22568	0.0		0.0	False		,,,				2504	0.0					uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(430-432)CTT>GTT		spectrin repeat containing, nuclear envelope 2		C	VAL/LEU,VAL/LEU	26,3820		0,26,1897	209.0	206.0	207.0		430,430	4.8	1.0	14	dbSNP_134	207	1,8291		0,1,4145	yes	missense,missense	SYNE2	NM_015180.4,NM_182914.2	32,32	0,27,6042	GG,GC,CC		0.0121,0.676,0.2224	probably-damaging,probably-damaging	144/6886,144/6908	64416564	27,12111	1923	4146	6069	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64416564C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.430C>G	14.37:g.64416564C>G	ENSP00000341781:p.Leu144Val					SYNE2_uc001xgk.2_Missense_Mutation_p.L144V|SYNE2_uc001xgl.2_Missense_Mutation_p.L144V	p.L144V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	7	660	+			144			Cytoplasmic (Potential).|Actin-binding.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.430C>G	CCDS41963.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	16.60	3.167378	0.57476	0.00676	1.21E-4	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83	5.7	4.8	0.61643	Calponin homology domain (1);	0.277746	0.25307	N	0.031613	D	0.95360	0.8494	L	0.51914	1.62	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.70227	0.93;0.968;0.959	D	0.94913	0.8066	10	0.72032	D	0.01	.	15.0127	0.71560	0.0:0.8582:0.1418:0.0	.	144;144;144	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	V	144	ENSP00000350719:L144V;ENSP00000341781:L144V;ENSP00000344528:L144V;ENSP00000348382:L144V;ENSP00000452570:L144V	ENSP00000261678:L144V	L	+	1	0	SYNE2	63486317	0.992000	0.36948	0.954000	0.39281	0.976000	0.68499	2.414000	0.44627	1.394000	0.46624	0.655000	0.94253	CTT		PASS	0.423	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		50	308	50	308	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64644158	64644158	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:64644158C>T	ENST00000344113.4	+	96	17725	c.17513C>T	c.(17512-17514)cCa>cTa	p.P5838L	SYNE2_ENST00000357395.3_Missense_Mutation_p.P2223L|SYNE2_ENST00000554584.1_Missense_Mutation_p.P5703L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.P2223L|SYNE2_ENST00000358025.3_Missense_Mutation_p.P5838L|SYNE2_ENST00000555002.1_Missense_Mutation_p.P2472L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5838					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.P5838L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATCCTCTTCCAGAGCTTCAC	0.393																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(17512-17514)CCA>CTA		spectrin repeat containing, nuclear envelope 2							87.0	88.0	88.0					14																	64644158		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64644158C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17513C>T	14.37:g.64644158C>T	ENSP00000341781:p.Pro5838Leu					SYNE2_uc001xgl.2_Missense_Mutation_p.P5838L|SYNE2_uc010apy.2_Missense_Mutation_p.P2223L|SYNE2_uc001xgn.2_Missense_Mutation_p.P800L|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Missense_Mutation_p.P203L	p.P5838L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	96	17743	+			5838			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.17513C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818550	0.90790	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.75050	-0.89;-0.89;-0.89;-0.9;-0.89;-0.89	6.07	6.07	0.98685	.	0.000000	0.56097	D	0.000029	D	0.87783	0.6264	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.992;0.999;1.0;0.998	D	0.86513	0.1811	10	0.49607	T	0.09	.	20.6452	0.99591	0.0:1.0:0.0:0.0	.	2223;226;5703;5838;5838	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	L	5838;2223;5838;5703;5709;2472;2223	ENSP00000350719:P5838L;ENSP00000349969:P2223L;ENSP00000341781:P5838L;ENSP00000452570:P5703L;ENSP00000450831:P2472L;ENSP00000378249:P2223L	ENSP00000261678:P5709L	P	+	2	0	SYNE2	63713911	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.243000	0.65395	2.885000	0.99019	0.650000	0.86243	CCA		PASS	0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		24	110	24	110	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68256264	68256264	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:68256264G>C	ENST00000347230.4	-	16	2945	c.2807C>G	c.(2806-2808)tCt>tGt	p.S936C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S936C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	936					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.S936C(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGGGTCTCCAGAGGTGTTGAG	0.522																																						uc001xka.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)	11						c.(2806-2808)TCT>TGT		zinc finger, FYVE domain containing 26							116.0	121.0	119.0					14																	68256264		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68256264G>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2807C>G	14.37:g.68256264G>C	ENSP00000251119:p.Ser936Cys					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S936C	p.S936C	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	16	2946	-			936					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.2807C>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724086	0.89298	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.31510	1.64;1.49	5.74	5.74	0.90152	.	0.174899	0.52532	D	0.000078	T	0.53883	0.1824	M	0.65975	2.015	0.44976	D	0.997998	D;D	0.71674	0.998;0.993	P;P	0.61592	0.891;0.72	T	0.52571	-0.8558	10	0.59425	D	0.04	-9.7808	19.9351	0.97137	0.0:0.0:1.0:0.0	.	936;936	G3V2D8;Q68DK2	.;ZFY26_HUMAN	C	936;915;936	ENSP00000251119:S936C;ENSP00000450603:S936C	ENSP00000251119:S936C	S	-	2	0	ZFYVE26	67326017	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.551000	0.82182	2.703000	0.92315	0.655000	0.94253	TCT		PASS	0.522	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		6	179	6	179	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71444958	71444958	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:71444958C>G	ENST00000304743.2	+	6	2350	c.1904C>G	c.(1903-1905)tCt>tGt	p.S635C	PCNX_ENST00000238570.5_Missense_Mutation_p.S635C|PCNX_ENST00000439984.3_Missense_Mutation_p.S635C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	635	Ser-rich.					integral component of membrane (GO:0016021)		p.S635C(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCCTGTCAGTCTCCTGAGGGC	0.463																																						uc001xmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1903-1905)TCT>TGT		pecanex-like 1							104.0	95.0	98.0					14																	71444958		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444958C>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1904C>G	14.37:g.71444958C>G	ENSP00000304192:p.Ser635Cys					PCNX_uc001xmn.3_Missense_Mutation_p.S635C|PCNX_uc010are.1_Missense_Mutation_p.S635C	p.S635C	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2350	+			635			Ser-rich.		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1904C>G	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983516	0.53827	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.01051	5.4;5.4;5.4	5.87	5.87	0.94306	.	0.120356	0.64402	D	0.000017	T	0.07279	0.0184	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.993;0.993;0.999	T	0.01661	-1.1301	10	0.87932	D	0	.	20.207	0.98280	0.0:1.0:0.0:0.0	.	635;635;635	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	C	635	ENSP00000304192:S635C;ENSP00000238570:S635C;ENSP00000396617:S635C	ENSP00000238570:S635C	S	+	2	0	PCNX	70514711	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.294000	0.78760	2.779000	0.95612	0.655000	0.94253	TCT		PASS	0.463	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		26	148	26	148	---	---	---	---
DPF3	8110	broad.mit.edu	37	14	73190343	73190343	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:73190343G>A	ENST00000556509.1	-	5	522	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	DPF3_ENST00000541685.1_Missense_Mutation_p.R175W|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.R185W	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	175					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.R175W(2)|p.R174W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CAACTTACCCGTCCTCTAGTC	0.478																																						uc001xnc.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(523-525)CGG>TGG		D4, zinc and double PHD fingers, family 3							229.0	235.0	233.0					14																	73190343		1911	4141	6052	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73190343G>A	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.523C>T	14.37:g.73190343G>A	ENSP00000450518:p.Arg175Trp					DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.R175W|DPF3_uc010ttq.1_Missense_Mutation_p.R185W	p.R175W	NM_012074	NP_036206	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	5	536	-			175					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.523C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.378151	0.82682	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91237	-2.81;-0.29;-0.25	5.07	5.07	0.68467	.	.	.	.	.	D	0.93919	0.8054	M	0.61703	1.905	0.46849	D	0.999222	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.77557	0.99;0.985;0.73	D	0.94328	0.7559	9	0.87932	D	0	.	13.4501	0.61165	0.0:0.0:0.8435:0.1565	.	185;175;175	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	W	175;175;174;175;185	ENSP00000450518:R175W;ENSP00000441640:R175W;ENSP00000444662:R185W	ENSP00000381791:R230W	R	-	1	2	DPF3	72260096	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.162000	0.58177	2.364000	0.80123	0.561000	0.74099	CGG		PASS	0.478	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			49	235	49	235	---	---	---	---
PTGR2	145482	broad.mit.edu	37	14	74340877	74340877	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:74340877G>T	ENST00000555661.1	+	4	453	c.308G>T	c.(307-309)tGg>tTg	p.W103L	PTGR2_ENST00000267568.4_Missense_Mutation_p.W103L|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.W103L|PTGR2_ENST00000555228.1_Missense_Mutation_p.W103L|PTGR2_ENST00000553813.1_Intron			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	103					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)	p.W103L(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	TATTGGCCCTGGCAAACCAAG	0.353																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	uc001xow.2																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)TGG>TTG		prostaglandin reductase 2							90.0	91.0	91.0					14																	74340877		2203	4300	6503	SO:0001583	missense	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74340877G>T	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.308G>T	14.37:g.74340877G>T	ENSP00000452280:p.Trp103Leu					PTGR2_uc010tue.1_Missense_Mutation_p.W103L|PTGR2_uc001xox.2_Missense_Mutation_p.W103L|ZNF410_uc001xoy.1_RNA	p.W103L	NM_001146154	NP_001139626	Q8N8N7	PTGR2_HUMAN			4	468	+			103					Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	c.308G>T	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250053	0.95305	.	.	ENSG00000140043	ENST00000555228;ENST00000555661;ENST00000555976;ENST00000267568	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.81	5.81	0.92471	GroES-like (1);	0.000000	0.85682	D	0.000000	D	0.83151	0.5192	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.86768	0.1971	10	0.87932	D	0	0.4933	20.0825	0.97783	0.0:0.0:1.0:0.0	.	103	Q8N8N7	PTGR2_HUMAN	L	103	ENSP00000450975:W103L;ENSP00000452280:W103L;ENSP00000450517:W103L;ENSP00000267568:W103L	ENSP00000267568:W103L	W	+	2	0	PTGR2	73410630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.116000	0.94341	2.746000	0.94184	0.655000	0.94253	TGG		PASS	0.353	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			16	159	16	159	---	---	---	---
ZNF410	57862	broad.mit.edu	37	14	74370752	74370752	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:74370752G>C	ENST00000555044.1	+	6	864	c.670G>C	c.(670-672)Gaa>Caa	p.E224Q	ZNF410_ENST00000540593.1_Missense_Mutation_p.E151Q|RP5-1021I20.5_ENST00000554009.1_RNA|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.E171Q|RP5-1021I20.6_ENST00000602874.1_RNA|ZNF410_ENST00000324593.6_Missense_Mutation_p.E224Q|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.E241Q|Y_RNA_ENST00000362602.1_RNA	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	224					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.E224Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GTGTACAGTTGAAGGTTGTGA	0.453																																						uc001xoz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(670-672)GAA>CAA		zinc finger protein 410							128.0	113.0	118.0					14																	74370752		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74370752G>C	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.670G>C	14.37:g.74370752G>C	ENSP00000451763:p.Glu224Gln					ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_Intron|ZNF410_uc010tug.1_5'UTR|ZNF410_uc010tuh.1_Missense_Mutation_p.E151Q|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Missense_Mutation_p.E241Q|ZNF410_uc001xpa.1_Missense_Mutation_p.L37F|ZNF410_uc001xpb.1_Missense_Mutation_p.E224Q|ZNF410_uc001xpc.1_Missense_Mutation_p.E171Q|ZNF410_uc010tuj.1_Missense_Mutation_p.L37F	p.E224Q	NM_021188	NP_067011	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	6	852	+			224			C2H2-type 1.		B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.670G>C	CCDS9821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.280730|4.280730	0.80692|0.80692	.|.	.|.	ENSG00000119725|ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521|ENST00000555602	T;T;T;T;T|.	0.36340|.	1.26;1.26;1.26;1.26;1.26|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.35262|.	U|.	0.003328|.	T|T	0.68988|0.68988	0.3061|0.3061	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P;D;P;B|.	0.64830|.	0.533;0.994;0.518;0.384|.	B;D;B;B|.	0.72982|.	0.076;0.979;0.162;0.125|.	T|T	0.67534|0.67534	-0.5646|-0.5646	9|4	0.46703|.	T|.	0.11|.	.|.	13.8327|13.8327	0.63391|0.63391	0.0:0.153:0.847:0.0|0.0:0.153:0.847:0.0	.|.	151;241;224;224|.	B4DR78;B4DDV5;Q86VK4-3;Q86VK4|.	.;.;.;ZN410_HUMAN|.	Q|F	151;224;213;241;224;171|37	ENSP00000442228:E151Q;ENSP00000323293:E224Q;ENSP00000407130:E241Q;ENSP00000451763:E224Q;ENSP00000334170:E171Q|.	ENSP00000323293:E224Q|.	E|L	+|+	1|3	0|2	ZNF410|ZNF410	73440505|73440505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.984000|5.984000	0.70548|0.70548	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GAA|TTG		PASS	0.453	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		5	154	5	154	---	---	---	---
CCDC176	80127	broad.mit.edu	37	14	74516731	74516731	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:74516731G>C	ENST00000394009.3	+	8	1242	c.1119G>C	c.(1117-1119)caG>caC	p.Q373H	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Missense_Mutation_p.Q98H	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	373					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.Q72H(1)|p.Q373H(1)									TGAAGCAACAGATCCTAATTA	0.398																																						uc010tup.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1117-1119)CAG>CAC		hypothetical protein LOC80127							90.0	87.0	88.0					14																	74516731		2203	4300	6503	SO:0001583	missense	80127							g.chr14:74516731G>C	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1119G>C	14.37:g.74516731G>C	ENSP00000377577:p.Gln373His					C14orf45_uc001xpm.1_RNA	p.Q373H	NM_025057	NP_079333	Q8ND07	CN045_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00351)	8	1242	+			373					Q0P604|Q9H5P8	Missense_Mutation	SNP	ENST00000394009.3	37	c.1119G>C	CCDS32119.2	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282093	0.59867	.	.	ENSG00000119636	ENST00000394009;ENST00000553773	T;T	0.49139	2.17;0.79	5.66	3.82	0.43975	.	0.205916	0.49305	D	0.000156	T	0.54208	0.1844	M	0.64997	1.995	0.32376	N	0.555178	D	0.53151	0.958	P	0.51135	0.66	T	0.68424	-0.5412	10	0.72032	D	0.01	-3.8962	12.405	0.55434	0.1376:0.0:0.8624:0.0	.	373	Q8ND07	CN045_HUMAN	H	373;98	ENSP00000377577:Q373H;ENSP00000451097:Q98H	ENSP00000377577:Q373H	Q	+	3	2	C14orf45	73586484	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.892000	0.48625	1.415000	0.47037	0.549000	0.68633	CAG		PASS	0.398	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		12	78	12	78	---	---	---	---
AREL1	9870	broad.mit.edu	37	14	75151330	75151330	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:75151330C>G	ENST00000356357.4	-	4	585	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	24					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E24Q(1)									GCGGCAAGCTCAAAGAGGAAC	0.502																																						uc001xqb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(70-72)GAG>CAG		hypothetical protein LOC9870							50.0	50.0	50.0					14																	75151330		1983	4175	6158	SO:0001583	missense	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75151330C>G	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.70G>C	14.37:g.75151330C>G	ENSP00000348714:p.Glu24Gln					KIAA0317_uc010tut.1_Intron|KIAA0317_uc001xqc.2_Missense_Mutation_p.E24Q|KIAA0317_uc001xqd.1_Intron	p.E24Q	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	4	575	-			24					B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.70G>C	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828169	0.90955	.	.	ENSG00000119682	ENST00000356357;ENST00000555249	T;T	0.53206	0.63;0.63	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	N	0.08118	0	0.80722	D	1	D;D	0.67145	0.996;0.974	D;P	0.75484	0.986;0.621	T	0.60515	-0.7248	10	0.49607	T	0.09	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	24;24	O15033-2;O15033	.;K0317_HUMAN	Q	24	ENSP00000348714:E24Q;ENSP00000450458:E24Q	ENSP00000348714:E24Q	E	-	1	0	KIAA0317	74221083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.730000	0.93505	0.655000	0.94253	GAG		PASS	0.502	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		9	52	9	52	---	---	---	---
NEK9	91754	broad.mit.edu	37	14	75574085	75574085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:75574085G>A	ENST00000238616.5	-	11	1446	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	430					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.Q430*(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CATGACACCTGACGGATAGCT	0.473																																						uc001xrl.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|stomach(2)|ovary(1)	5						c.(1288-1290)CAG>TAG		NIMA-related kinase 9							242.0	169.0	194.0					14																	75574085		2203	4300	6503	SO:0001587	stop_gained	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75574085G>A	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1288C>T	14.37:g.75574085G>A	ENSP00000238616:p.Gln430*					NEK9_uc001xrk.2_5'UTR	p.Q430*	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	11	1442	-			430			RCC1 1.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Nonsense_Mutation	SNP	ENST00000238616.5	37	c.1288C>T	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	G	38	7.058123	0.98032	.	.	ENSG00000119638	ENST00000238616;ENST00000540227	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	18.9521	0.92644	0.0:0.0:1.0:0.0	.	.	.	.	X	430;412	.	ENSP00000238616:Q430X	Q	-	1	0	NEK9	74643838	1.000000	0.71417	0.956000	0.39512	0.823000	0.46562	9.869000	0.99810	2.472000	0.83506	0.655000	0.94253	CAG		PASS	0.473	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		20	96	20	96	---	---	---	---
NGB	58157	broad.mit.edu	37	14	77732898	77732898	+	Missense_Mutation	SNP	C	C	G	rs150881015		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:77732898C>G	ENST00000298352.4	-	4	811	c.437G>C	c.(436-438)cGa>cCa	p.R146P	MIR1260A_ENST00000408827.1_RNA	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	146	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.R146P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		ATCCCAGCCTCGACTCATGGC	0.632																																						uc001xtg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)CGA>CCA		neuroglobin							54.0	51.0	52.0					14																	77732898		2203	4300	6503	SO:0001583	missense	58157					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr14:77732898C>G	AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.437G>C	14.37:g.77732898C>G	ENSP00000298352:p.Arg146Pro						p.R146P	NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	4	812	-			146			Globin.			Missense_Mutation	SNP	ENST00000298352.4	37	c.437G>C	CCDS9856.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827059	0.90955	.	.	ENSG00000165553	ENST00000298352	.	.	.	4.76	4.76	0.60689	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	P	0.58577	0.841	T	0.66048	-0.6020	9	0.51188	T	0.08	.	16.5645	0.84575	0.0:1.0:0.0:0.0	.	146	Q9NPG2	NGB_HUMAN	P	146	.	ENSP00000298352:R146P	R	-	2	0	NGB	76802651	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	2.758000	0.47565	2.186000	0.69663	0.561000	0.74099	CGA		PASS	0.632	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414194.1	NM_021257		9	73	9	73	---	---	---	---
TMED8	283578	broad.mit.edu	37	14	77808183	77808183	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:77808183G>C	ENST00000216468.7	-	6	964	c.909C>G	c.(907-909)ctC>ctG	p.L303L		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	303	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L303L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGTCGAACTTGAGCAGGTAGA	0.587																																						uc001xto.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(907-909)CTC>CTG		transmembrane emp24 protein transport domain							143.0	123.0	130.0					14																	77808183		2203	4300	6503	SO:0001819	synonymous_variant	283578				transport	integral to membrane		g.chr14:77808183G>C	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.909C>G	14.37:g.77808183G>C						TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Silent_p.L147L	p.L303L	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	6	909	-			303			GOLD.		B3KTI6|Q3MJB0|Q9P1V9	Silent	SNP	ENST00000216468.7	37	c.909C>G	CCDS32125.1																																																																																				PASS	0.587	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		11	73	11	73	---	---	---	---
ISM2	145501	broad.mit.edu	37	14	77948773	77948773	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:77948773C>G	ENST00000342219.4	-	4	921	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	ISM2_ENST00000429906.1_Missense_Mutation_p.E208Q|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000393684.3_Missense_Mutation_p.E201Q|ISM2_ENST00000412904.1_Missense_Mutation_p.E208Q	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	289						extracellular region (GO:0005576)		p.E289Q(1)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						tcatcttcctctttgtcctct	0.552																																						uc001xtz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(865-867)GAG>CAG		isthmin 2 homolog isoform 1							163.0	132.0	142.0					14																	77948773		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77948773C>G	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.865G>C	14.37:g.77948773C>G	ENSP00000341490:p.Glu289Gln					ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Missense_Mutation_p.E201Q|ISM2_uc010tvl.1_Missense_Mutation_p.E208Q	p.E289Q	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			4	939	-			289					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.865G>C	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667711	0.47677	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.25085	1.82;1.85;1.86;2.17	4.62	4.62	0.57501	.	3.757260	0.01498	U	0.017360	T	0.27663	0.0680	N	0.22421	0.69	0.09310	N	1	D;P	0.53151	0.958;0.93	P;B	0.47981	0.563;0.36	T	0.23190	-1.0195	10	0.28530	T	0.3	-8.6594	10.6522	0.45655	0.0:0.9062:0.0:0.0938	.	208;289	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	Q	289;208;208;201	ENSP00000341490:E289Q;ENSP00000416773:E208Q;ENSP00000395387:E208Q;ENSP00000377289:E201Q	ENSP00000341490:E289Q	E	-	1	0	ISM2	77018526	0.024000	0.19004	0.010000	0.14722	0.004000	0.04260	2.799000	0.47892	2.272000	0.75746	0.491000	0.48974	GAG		PASS	0.552	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		19	70	19	70	---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91110546	91110546	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:91110546C>G	ENST00000328459.6	-	15	1718	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	RP11-1078H9.5_ENST00000553826.1_RNA|TTC7B_ENST00000554654.1_5'UTR|RP11-1078H9.5_ENST00000557007.1_RNA|TTC7B_ENST00000357056.2_Missense_Mutation_p.E533Q	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	533								p.E533Q(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCCAGAGCCTCTGGGATCTGG	0.502																																						uc001xyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1597-1599)GAG>CAG		tetratricopeptide repeat domain 7B							84.0	82.0	83.0					14																	91110546		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91110546C>G	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1597G>C	14.37:g.91110546C>G	ENSP00000336127:p.Glu533Gln					TTC7B_uc001xyo.2_5'UTR|TTC7B_uc010ats.2_RNA|uc001xyq.2_Intron	p.E533Q	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			15	1719	-		Melanoma(154;0.222)	533			TPR 6.		Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.1597G>C	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149578	0.94645	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972;ENST00000540938	D;D;T	0.84944	-1.92;-1.92;0.92	5.8	5.8	0.92144	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.86656	0.1901	10	0.15952	T	0.53	-25.3609	20.063	0.97692	0.0:1.0:0.0:0.0	.	533	Q86TV6	TTC7B_HUMAN	Q	431;533;533;3;275	ENSP00000349564:E533Q;ENSP00000336127:E533Q;ENSP00000451440:E3Q	ENSP00000336127:E533Q	E	-	1	0	TTC7B	90180299	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.487000	0.81328	2.735000	0.93741	0.655000	0.94253	GAG		PASS	0.502	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			25	121	25	121	---	---	---	---
CCDC88C	440193	broad.mit.edu	37	14	91779949	91779949	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:91779949C>A	ENST00000389857.6	-	15	2297	c.2211G>T	c.(2209-2211)aaG>aaT	p.K737N		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	737					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.K737N(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCAGCTCCTCCTTCTCACGCT	0.617																																						uc010aty.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2209-2211)AAG>AAT		DVL-binding protein DAPLE							78.0	81.0	80.0					14																	91779949		2176	4270	6446	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91779949C>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2211G>T	14.37:g.91779949C>A	ENSP00000374507:p.Lys737Asn						p.K737N	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			15	2310	-		all_cancers(154;0.0468)	737			Potential.		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.2211G>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760489	0.31137	.	.	ENSG00000015133	ENST00000389857	T	0.15603	2.41	5.29	5.29	0.74685	.	0.000000	0.49305	U	0.000143	T	0.15089	0.0364	L	0.41356	1.27	0.80722	D	1	B	0.28439	0.212	B	0.28916	0.096	T	0.03374	-1.1043	10	0.59425	D	0.04	-37.3916	9.3377	0.38060	0.0:0.8351:0.0:0.1649	.	737	Q9P219	DAPLE_HUMAN	N	737	ENSP00000374507:K737N	ENSP00000374507:K737N	K	-	3	2	CCDC88C	90849702	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	0.731000	0.26058	2.478000	0.83669	0.561000	0.74099	AAG		PASS	0.617	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		46	99	46	99	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94084612	94084612	+	Silent	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:94084612G>T	ENST00000393151.2	+	29	4299	c.4299G>T	c.(4297-4299)gcG>gcT	p.A1433A	UNC79_ENST00000256339.4_Silent_p.A1256A|UNC79_ENST00000553484.1_Silent_p.A1455A|UNC79_ENST00000555664.1_Silent_p.A1433A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1433					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1455A(1)|p.A1256A(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CACTCAATGCGCAGTATCATA	0.428																																						uc001ybv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(3832-3834)GCG>GCT		hypothetical protein LOC57578							109.0	91.0	97.0					14																	94084612		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94084612G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4299G>T	14.37:g.94084612G>T						KIAA1409_uc001ybs.1_Silent_p.A1256A	p.A1278A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	27	3917	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1433					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.3834G>T																																																																																					PASS	0.428	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		13	91	13	91	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94158226	94158226	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:94158226G>A	ENST00000393151.2	+	47	7521	c.7521G>A	c.(7519-7521)ctG>ctA	p.L2507L	UNC79_ENST00000256339.4_Silent_p.L2330L|UNC79_ENST00000553484.1_Silent_p.L2529L|UNC79_ENST00000555664.1_Silent_p.L2468L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2507					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2529L(1)|p.L2330L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGGCGATACTGACAGCACTAG	0.473																																						uc001ybv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(7054-7056)CTG>CTA		hypothetical protein LOC57578							141.0	129.0	133.0					14																	94158226		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94158226G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7521G>A	14.37:g.94158226G>A						KIAA1409_uc001ybs.1_Silent_p.L2330L	p.L2352L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	45	7139	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2507					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.7056G>A																																																																																					PASS	0.473	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		19	114	19	114	---	---	---	---
IFI27	3429	broad.mit.edu	37	14	94578051	94578051	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:94578051C>T	ENST00000555744.1	+	2	211	c.23C>T	c.(22-24)tCa>tTa	p.S8L	IFI27_ENST00000557634.1_Missense_Mutation_p.S8L|IFI27_ENST00000448882.1_Missense_Mutation_p.S8L|IFI27_ENST00000444961.1_Missense_Mutation_p.S8L|IFI27_ENST00000557098.1_Intron|IFI27_ENST00000298902.5_Missense_Mutation_p.S8L			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	8					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.S8L(1)		breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		GCTCTCACCTCATCAGCAGTG	0.602																																					GBM(128;797 1667 20895 29868 47129)	uc010tws.1																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)CTC>CTT		interferon, alpha-inducible protein 27 isoform							138.0	112.0	121.0					14																	94578051		2203	4300	6503	SO:0001583	missense	3429				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		g.chr14:94578051C>T	X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.23C>T	14.37:g.94578051C>T	ENSP00000451956:p.Ser8Leu					IFI27_uc001ycm.1_RNA|IFI27_uc001ycn.1_Intron|IFI27_uc001yco.2_Missense_Mutation_p.S8L	p.L30L	NM_005532	NP_005523	P40305	IFI27_HUMAN		Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)	2	211	+			Error:Variant_position_missing_in_P40305_after_alignment					Q53YA6|Q6IEC1|Q96BK3	Silent	SNP	ENST00000555744.1	37	c.90C>T	CCDS32148.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279957	0.23392	.	.	ENSG00000165949	ENST00000554448;ENST00000444961;ENST00000448882;ENST00000554800;ENST00000556544;ENST00000298902;ENST00000555819;ENST00000557634;ENST00000555744	T;T;T;T;T;T	0.51325	1.24;1.22;0.71;1.25;1.21;1.25	1.8	0.642	0.17765	.	.	.	.	.	T	0.22936	0.0554	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16012	-1.0417	9	0.48119	T	0.1	.	3.0727	0.06236	0.0:0.5362:0.0:0.4638	.	8	P40305	IFI27_HUMAN	L	8	ENSP00000413536:S8L;ENSP00000410901:S8L;ENSP00000451875:S8L;ENSP00000298902:S8L;ENSP00000452560:S8L;ENSP00000451956:S8L	ENSP00000298902:S8L	S	+	2	0	IFI27	93647804	0.000000	0.05858	0.004000	0.12327	0.043000	0.13939	0.039000	0.13884	0.186000	0.20125	0.393000	0.25936	TCA		PASS	0.602	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532		15	59	15	59	---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95669505	95669505	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:95669505G>C	ENST00000298912.4	-	9	2294	c.2181C>G	c.(2179-2181)ttC>ttG	p.F727L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	727					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.F727L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GTGGGAAATAGAAGAGGTCGT	0.517																																						uc001yef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2179-2181)TTC>TTG		calmin							42.0	45.0	44.0					14																	95669505		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95669505G>C	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2181C>G	14.37:g.95669505G>C	ENSP00000298912:p.Phe727Leu						p.F727L	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	2297	-			727					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.2181C>G	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834722	0.32421	.	.	ENSG00000165959	ENST00000298912	D	0.97710	-4.5	5.16	3.32	0.38043	.	0.000000	0.43416	D	0.000574	D	0.95937	0.8677	M	0.65498	2.005	0.80722	D	1	P	0.48294	0.908	B	0.41860	0.368	D	0.94676	0.7861	10	0.87932	D	0	.	9.1608	0.37021	0.1697:0.0:0.8303:0.0	.	727	Q96JQ2	CLMN_HUMAN	L	727	ENSP00000298912:F727L	ENSP00000298912:F727L	F	-	3	2	CLMN	94739258	1.000000	0.71417	0.997000	0.53966	0.067000	0.16453	1.667000	0.37471	1.176000	0.42840	-0.362000	0.07510	TTC		PASS	0.517	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			23	65	23	65	---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95670395	95670395	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:95670395C>G	ENST00000298912.4	-	9	1404	c.1291G>C	c.(1291-1293)Gac>Cac	p.D431H		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	431					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.D431H(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TTGTAGGTGTCAGCCTCAAAG	0.473																																						uc001yef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1291-1293)GAC>CAC		calmin							124.0	118.0	120.0					14																	95670395		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670395C>G	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1291G>C	14.37:g.95670395C>G	ENSP00000298912:p.Asp431His						p.D431H	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1407	-			431					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.1291G>C	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995651	0.54147	.	.	ENSG00000165959	ENST00000298912	D	0.95482	-3.72	5.91	5.02	0.67125	.	0.000000	0.43747	D	0.000526	D	0.96658	0.8909	M	0.66939	2.045	0.35096	D	0.764811	D	0.76494	0.999	D	0.65573	0.936	D	0.99899	1.1156	10	0.72032	D	0.01	.	11.1357	0.48373	0.0:0.9157:0.0:0.0843	.	431	Q96JQ2	CLMN_HUMAN	H	431	ENSP00000298912:D431H	ENSP00000298912:D431H	D	-	1	0	CLMN	94740148	0.024000	0.19004	0.032000	0.17829	0.051000	0.14879	1.470000	0.35354	1.503000	0.48686	0.655000	0.94253	GAC		PASS	0.473	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			24	162	24	162	---	---	---	---
BDKRB2	624	broad.mit.edu	37	14	96706942	96706942	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:96706942G>C	ENST00000306005.3	+	3	473	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	BDKRB2_ENST00000542454.2_Missense_Mutation_p.E66Q|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Missense_Mutation_p.E66Q|BDKRB2_ENST00000554311.1_Missense_Mutation_p.E93Q	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	93					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.E93Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CACGGTGGCAGAGATCTACCT	0.612																																						uc010avm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|kidney(1)	5						c.(277-279)GAG>CAG		bradykinin receptor B2							100.0	100.0	100.0					14																	96706942		2203	4300	6503	SO:0001583	missense	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96706942G>C	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.277G>C	14.37:g.96706942G>C	ENSP00000307713:p.Glu93Gln					BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.E66Q|BDKRB2_uc001yfg.2_Missense_Mutation_p.E93Q	p.E93Q	NM_000623	NP_000614	P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	473	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	93			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000306005.3	37	c.277G>C	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562148	0.86335	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.053822	0.64402	D	0.000001	T	0.60077	0.2241	M	0.68728	2.09	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.65121	-0.6245	10	0.87932	D	0	-30.2783	17.9557	0.89068	0.0:0.0:1.0:0.0	.	93	P30411	BKRB2_HUMAN	Q	66;93;93;66	ENSP00000439459:E66Q;ENSP00000450482:E93Q;ENSP00000307713:E93Q;ENSP00000438376:E66Q	ENSP00000307713:E93Q	E	+	1	0	BDKRB2	95776695	1.000000	0.71417	0.915000	0.36163	0.896000	0.52359	9.695000	0.98691	2.317000	0.78254	0.561000	0.74099	GAG		PASS	0.612	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			6	270	6	270	---	---	---	---
AK7	122481	broad.mit.edu	37	14	96937902	96937902	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:96937902G>A	ENST00000267584.4	+	13	1489	c.1445G>A	c.(1444-1446)gGa>gAa	p.G482E		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	482	Adenylate kinase.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.G482E(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATTTTGGATGGATTCCCAAAG	0.303																																						uc001yfn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1444-1446)GGA>GAA		adenylate kinase 7							88.0	85.0	86.0					14																	96937902		2203	4298	6501	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96937902G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1445G>A	14.37:g.96937902G>A	ENSP00000267584:p.Gly482Glu						p.G482E	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	13	1489	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	482			Adenylate kinase.		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.1445G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916623	0.73098	.	.	ENSG00000140057	ENST00000267584	D	0.93488	-3.23	5.15	5.15	0.70609	.	0.092904	0.64402	D	0.000001	D	0.97451	0.9166	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98296	1.0516	10	0.72032	D	0.01	-33.5477	18.2105	0.89868	0.0:0.0:1.0:0.0	.	482	Q96M32	KAD7_HUMAN	E	482	ENSP00000267584:G482E	ENSP00000267584:G482E	G	+	2	0	AK7	96007655	1.000000	0.71417	0.992000	0.48379	0.607000	0.37147	9.310000	0.96267	2.419000	0.82065	0.305000	0.20034	GGA		PASS	0.303	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			6	108	6	108	---	---	---	---
SETD3	84193	broad.mit.edu	37	14	99865289	99865289	+	Missense_Mutation	SNP	C	C	G	rs532987474		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:99865289C>G	ENST00000331768.5	-	13	1671	c.1512G>C	c.(1510-1512)gaG>gaC	p.E504D		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	504					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.E504D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CAAGGTTACTCTCTTCATATT	0.522																																						uc001ygc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1510-1512)GAG>GAC		SET domain containing 3 isoform a							151.0	152.0	152.0					14																	99865289		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99865289C>G	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1512G>C	14.37:g.99865289C>G	ENSP00000327436:p.Glu504Asp						p.E504D	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			13	1682	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	504					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1512G>C	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461171	0.63513	.	.	ENSG00000183576	ENST00000331768	T	0.26518	1.73	5.12	5.12	0.69794	Rubisco LS methyltransferase, substrate-binding domain (2);	0.050218	0.85682	D	0.000000	T	0.29423	0.0733	M	0.61703	1.905	0.80722	D	1	P	0.40909	0.732	B	0.40285	0.325	T	0.07908	-1.0748	10	0.62326	D	0.03	-12.3221	11.9818	0.53123	0.0:0.9209:0.0:0.0791	.	504	Q86TU7	SETD3_HUMAN	D	504	ENSP00000327436:E504D	ENSP00000327436:E504D	E	-	3	2	SETD3	98935042	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	1.290000	0.33319	2.387000	0.81309	0.655000	0.94253	GAG		PASS	0.522	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		78	376	78	376	---	---	---	---
MIR377	494326	broad.mit.edu	37	14	101526956	101526956	+	RNA	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:101526956T>C	ENST00000362145.2	+	0	0				MIR496_ENST00000385226.1_RNA|MIR154_ENST00000385243.1_RNA	NR_029869.1				microRNA 377																		GTGTTCATTTTATTTATGATG	0.537																																						hsa-mir-496|MI0003136																			0					0															93.0	81.0	85.0					14																	101526956		1567	3582	5149			574454							g.chr14:101526956T>C			14q32.31	2011-09-12		2008-12-18	ENSG00000199015	ENSG00000199015		"""ncRNAs / Micro RNAs"""	31870	non-coding RNA	RNA, micro				MIRN377			Standard	NR_029869		Approved	hsa-mir-377	uc010awh.1				14.37:g.101526956T>C						uc010awh.1_5'Flank|MIR377_hsa-mir-377|MI0000785_5'Flank										+									RNA	SNP	ENST00000362145.2	37	c.47T>C																																																																																					PASS	0.537	MIR377-201	KNOWN	basic	miRNA	miRNA		NR_029869		6	23	6	23	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102481630	102481630	+	Missense_Mutation	SNP	A	A	C	rs150888094	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:102481630A>C	ENST00000360184.4	+	35	7367	c.7203A>C	c.(7201-7203)aaA>aaC	p.K2401N		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2401	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.K2401N(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTAAGGGCAAAGAGGATGAGG	0.602																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(7201-7203)AAA>AAC		cytoplasmic dynein 1 heavy chain 1		A	ASN/LYS	0,4406		0,0,2203	40.0	36.0	38.0		7203	-3.3	1.0	14	dbSNP_134	38	4,8596	3.7+/-12.6	0,4,4296	yes	missense	DYNC1H1	NM_001376.4	94	0,4,6499	CC,CA,AA		0.0465,0.0,0.0308	benign	2401/4647	102481630	4,13002	2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102481630A>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7203A>C	14.37:g.102481630A>C	ENSP00000348965:p.Lys2401Asn					DYNC1H1_uc001ykt.1_5'UTR	p.K2401N	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			35	7367	+			2401			AAA 2 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.7203A>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.757328	0.31137	0.0	4.65E-4	ENSG00000197102	ENST00000360184	T	0.28895	1.59	5.32	-3.31	0.04988	.	0.048785	0.85682	D	0.000000	T	0.16685	0.0401	L	0.27053	0.805	0.44048	D	0.996789	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	10	0.13108	T	0.6	.	13.3155	0.60405	0.4824:0.0:0.5176:0.0	.	2401	Q14204	DYHC1_HUMAN	N	2401	ENSP00000348965:K2401N	ENSP00000348965:K2401N	K	+	3	2	DYNC1H1	101551383	0.164000	0.22935	0.988000	0.46212	0.965000	0.64279	-0.323000	0.07997	-0.536000	0.06298	0.459000	0.35465	AAA		PASS	0.602	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		3	32	3	32	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104209151	104209151	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:104209151C>G	ENST00000202556.9	-	10	1442	c.1160G>C	c.(1159-1161)gGa>gCa	p.G387A	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	387					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G387A(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGGCCAGTTTCCATCATTAGC	0.443																																						uc001yof.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1159-1161)GGA>GCA		apoptosis-stimulating protein of p53, 1							78.0	76.0	76.0					14																	104209151		1942	4148	6090	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104209151C>G	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1160G>C	14.37:g.104209151C>G	ENSP00000202556:p.Gly387Ala					PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.G254A	p.G387A	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			10	1443	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	387					B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.1160G>C	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609130	0.28623	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	T	0.48201	0.82	5.93	5.93	0.95920	.	0.120878	0.53938	D	0.000056	T	0.27489	0.0675	N	0.08118	0	0.80722	D	1	B	0.17268	0.021	B	0.17979	0.02	T	0.14924	-1.0455	10	0.07990	T	0.79	.	15.7836	0.78286	0.0:0.8646:0.1354:0.0	.	387	Q96KQ4	ASPP1_HUMAN	A	387;254	ENSP00000202556:G387A	ENSP00000202556:G387A	G	-	2	0	PPP1R13B	103278904	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.282000	0.58971	2.815000	0.96918	0.561000	0.74099	GGA		PASS	0.443	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		5	175	5	175	---	---	---	---
TDRD9	122402	broad.mit.edu	37	14	104472825	104472825	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:104472825C>G	ENST00000409874.4	+	16	1861	c.1813C>G	c.(1813-1815)Cag>Gag	p.Q605E	TDRD9_ENST00000339063.5_Missense_Mutation_p.Q605E	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	605					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.Q605E(1)|p.Q320E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TCCTGTAAATCAGCAACTTGG	0.408																																						uc001yom.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1813-1815)CAG>GAG		tudor domain containing 9							87.0	88.0	88.0					14																	104472825		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104472825C>G	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1813C>G	14.37:g.104472825C>G	ENSP00000387303:p.Gln605Glu					TDRD9_uc001yon.3_Missense_Mutation_p.Q343E	p.Q605E	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			16	1843	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	605					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.1813C>G	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.15|11.15	1.552969|1.552969	0.27739|0.27739	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000409874;ENST00000339063|ENST00000557332	T;T|.	0.29142|.	1.58;1.58|.	5.48|5.48	4.58|4.58	0.56647|0.56647	Helicase-associated domain (2);|.	0.102692|.	0.41605|.	D|.	0.000842|.	T|.	0.19087|.	0.0458|.	N|N	0.08118|0.08118	0|0	0.26477|0.26477	N|N	0.975179|0.975179	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.15052|.	0.004;0.012|.	T|.	0.19321|.	-1.0309|.	10|.	0.52906|.	T|.	0.07|.	.|.	7.9094|7.9094	0.29782|0.29782	0.0:0.7241:0.1353:0.1406|0.0:0.7241:0.1353:0.1406	.|.	605;605|.	Q8NDG6-2;Q8NDG6|.	.;TDRD9_HUMAN|.	E|X	605|331	ENSP00000387303:Q605E;ENSP00000343545:Q605E|.	ENSP00000343545:Q605E|.	Q|S	+|+	1|2	0|0	TDRD9|TDRD9	103542578|103542578	0.964000|0.964000	0.33143|0.33143	0.811000|0.811000	0.32455|0.32455	0.606000|0.606000	0.37113|0.37113	2.256000|2.256000	0.43231|0.43231	1.282000|1.282000	0.44496|0.44496	0.563000|0.563000	0.77884|0.77884	CAG|TCA		PASS	0.408	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		20	92	20	92	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105415937	105415937	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:105415937G>C	ENST00000333244.5	-	7	5970	c.5851C>G	c.(5851-5853)Ctg>Gtg	p.L1951V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1951						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.L1951V(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)			ATGCTGGGCAGAGACACCTCG	0.622																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(5851-5853)CTG>GTG		AHNAK nucleoprotein 2							130.0	142.0	138.0					14																	105415937		1980	4115	6095	SO:0001583	missense	113146					nucleus		g.chr14:105415937G>C	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.5851C>G	14.37:g.105415937G>C	ENSP00000353114:p.Leu1951Val					AHNAK2_uc001ypx.2_Missense_Mutation_p.L1851V	p.L1951V	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	5971	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1951					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5851C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	8.975	0.973807	0.18736	.	.	ENSG00000185567	ENST00000333244	T	0.01246	5.11	3.3	2.39	0.29439	.	.	.	.	.	T	0.01730	0.0055	L	0.54908	1.71	0.09310	N	1	B	0.22346	0.068	B	0.19391	0.025	T	0.47923	-0.9079	9	0.15066	T	0.55	-20.0438	7.2263	0.26018	0.2117:0.0:0.7882:0.0	.	1951	Q8IVF2	AHNK2_HUMAN	V	1951	ENSP00000353114:L1951V	ENSP00000353114:L1951V	L	-	1	2	AHNAK2	104486982	0.000000	0.05858	0.021000	0.16686	0.016000	0.09150	-1.712000	0.01885	0.387000	0.25024	0.485000	0.47835	CTG		PASS	0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		50	278	50	278	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105420834	105420834	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:105420834C>G	ENST00000333244.5	-	7	1073	c.954G>C	c.(952-954)caG>caC	p.Q318H	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	318						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.Q318H(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)			TCCGCCTCCTCTGGCTGCCCG	0.642																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(952-954)CAG>CAC		AHNAK nucleoprotein 2							27.0	31.0	30.0					14																	105420834		2120	4210	6330	SO:0001583	missense	113146					nucleus		g.chr14:105420834C>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.954G>C	14.37:g.105420834C>G	ENSP00000353114:p.Gln318His					AHNAK2_uc001ypx.2_Missense_Mutation_p.Q218H	p.Q318H	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	1074	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	318					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.954G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.57	2.275233	0.40194	.	.	ENSG00000185567	ENST00000333244	T	0.02916	4.11	4.48	2.64	0.31445	.	.	.	.	.	T	0.07728	0.0194	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.33111	-0.9881	9	0.33940	T	0.23	.	6.2056	0.20600	0.0:0.6154:0.0:0.3846	.	318	Q8IVF2	AHNK2_HUMAN	H	318	ENSP00000353114:Q318H	ENSP00000353114:Q318H	Q	-	3	2	AHNAK2	104491879	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.131000	0.10482	0.452000	0.26830	-0.145000	0.13849	CAG		PASS	0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		3	20	3	20	---	---	---	---
BTBD6	90135	broad.mit.edu	37	14	105716777	105716777	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:105716777G>T	ENST00000392554.3	+	4	1523	c.1226G>T	c.(1225-1227)gGa>gTa	p.G409V	BTBD6_ENST00000536364.1_Missense_Mutation_p.G409V|BRF1_ENST00000446501.2_5'Flank|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000463376.2_Missense_Mutation_p.G334V|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000392557.4_5'Flank|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.G334V			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	409						cytoplasm (GO:0005737)		p.G334V(1)		endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		ATGTCAGACGGATCCAGTAAC	0.567																																						uc010tyq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1225-1227)GGA>GTA		BTB domain protein BDPL							101.0	73.0	83.0					14																	105716777		2202	4300	6502	SO:0001583	missense	90135					cytoplasmic mRNA processing body		g.chr14:105716777G>T	AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"""BTB/POZ domain containing"""	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.1226G>T	14.37:g.105716777G>T	ENSP00000376337:p.Gly409Val					BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	p.G409V	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)	5	1334	+		Melanoma(154;0.226)	409					Q8IVQ7|Q9BR94	Missense_Mutation	SNP	ENST00000392554.3	37	c.1226G>T	CCDS10002.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394455	0.83011	.	.	ENSG00000184887	ENST00000536364;ENST00000392554;ENST00000327471	T;T;T	0.78003	-1.14;-1.14;-0.98	5.16	5.16	0.70880	PHR (1);	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.91687	0.5363	9	.	.	.	-27.5925	16.1589	0.81683	0.0:0.0:1.0:0.0	.	409	Q96KE9	BTBD6_HUMAN	V	409;409;334	ENSP00000443091:G409V;ENSP00000376337:G409V;ENSP00000329361:G334V	.	G	+	2	0	BTBD6	104787822	1.000000	0.71417	0.983000	0.44433	0.898000	0.52572	9.659000	0.98597	2.392000	0.81423	0.655000	0.94253	GGA		PASS	0.567	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4			4	100	4	100	---	---	---	---
MTA1	9112	broad.mit.edu	37	14	105905016	105905016	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr14:105905016C>G	ENST00000331320.7	+	2	250	c.36C>G	c.(34-36)gtC>gtG	p.V12V	MTA1_ENST00000405646.1_Silent_p.V12V|MTA1_ENST00000406191.1_Silent_p.V12V	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	12	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V12V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CAGACTACGTCTACTTTGAGA	0.617																																						uc001yqx.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(34-36)GTC>GTG		metastasis associated protein							149.0	147.0	148.0					14																	105905016		2203	4300	6503	SO:0001819	synonymous_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105905016C>G	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.36C>G	14.37:g.105905016C>G						MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_5'UTR|MTA1_uc001yra.1_5'UTR	p.V12V	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	2	223	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	12			BAH.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Silent	SNP	ENST00000331320.7	37	c.36C>G	CCDS32169.1																																																																																				PASS	0.617	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			43	229	43	229	---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22962537	22962537	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:22962537A>T	ENST00000313077.7	+	20	2382	c.2257A>T	c.(2257-2259)Agg>Tgg	p.R753W	CYFIP1_ENST00000435939.2_Missense_Mutation_p.R322W|CYFIP1_ENST00000560848.1_Missense_Mutation_p.R753W	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.R753W(1)|p.R322W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCTGAAGCAGAGGCATGTGCA	0.562																																						uc001yus.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(2257-2259)AGG>TGG		cytoplasmic FMR1 interacting protein 1 isoform							47.0	44.0	45.0					15																	22962537		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22962537A>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2257A>T	15.37:g.22962537A>T	ENSP00000324549:p.Arg753Trp					CYFIP1_uc001yut.2_Missense_Mutation_p.R753W|CYFIP1_uc010aya.1_Missense_Mutation_p.R781W|CYFIP1_uc001yuu.2_Missense_Mutation_p.R322W	p.R753W	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	20	2361	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	753						Missense_Mutation	SNP	ENST00000313077.7	37	c.2257A>T	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176017	0.78564	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.27256	1.68;1.68	5.23	4.09	0.47781	.	0.081919	0.52532	D	0.000067	T	0.55752	0.1940	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.997	D;D;D	0.83275	0.957;0.996;0.964	T	0.62845	-0.6768	10	0.87932	D	0	-29.0945	12.3023	0.54880	0.8583:0.1417:0.0:0.0	.	781;322;753	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	W	753;781;322	ENSP00000324549:R753W;ENSP00000405956:R322W	ENSP00000324549:R753W	R	+	1	2	CYFIP1	20513978	1.000000	0.71417	0.997000	0.53966	0.807000	0.45602	5.696000	0.68287	0.815000	0.34398	0.459000	0.35465	AGG		PASS	0.562	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		7	48	7	48	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23890133	23890133	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:23890133C>G	ENST00000532292.1	-	1	1042	c.948G>C	c.(946-948)ctG>ctC	p.L316L		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	199	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.L316L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCCAGTCACTCAGATTTAGAT	0.612																																						uc001ywj.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(946-948)CTG>CTC		MAGE-like protein 2							53.0	60.0	58.0					15																	23890133		2041	4218	6259	SO:0001819	synonymous_variant	54551							g.chr15:23890133C>G	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.948G>C	15.37:g.23890133C>G							p.L316L	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1043	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.948G>C		.	.	.	.	.	.	.	.	.	.	C	1.425	-0.571908	0.03882	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.94	0.902	0.19290	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8086	0.23792	0.3552:0.4725:0.1724:0.0	.	.	.	.	S	348	.	.	X	-	2	2	MAGEL2	21441226	0.000000	0.05858	0.001000	0.08648	0.211000	0.24417	0.205000	0.17356	0.204000	0.20548	0.655000	0.94253	TGA		PASS	0.612	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		19	91	19	91	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931634	23931634	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:23931634T>C	ENST00000331837.4	-	1	816	c.731A>G	c.(730-732)tAc>tGc	p.Y244C		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	244	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y244C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GTACTTCAGGTAATTCATTTG	0.587									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)TAC>TGC		necdin							42.0	40.0	41.0					15																	23931634		2203	4300	6503	SO:0001583	missense	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931634T>C	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.731A>G	15.37:g.23931634T>C	ENSP00000332643:p.Tyr244Cys						p.Y244C	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	817	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	244			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.731A>G	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.172152	0.57584	.	.	ENSG00000182636	ENST00000331837	T	0.31247	1.5	3.36	3.36	0.38483	.	0.000000	0.64402	D	0.000001	T	0.55194	0.1905	M	0.87456	2.885	0.45284	D	0.998289	D	0.76494	0.999	D	0.72625	0.978	T	0.60647	-0.7222	10	0.72032	D	0.01	.	8.4471	0.32849	0.0:0.0:0.0:1.0	.	244	Q99608	NECD_HUMAN	C	244	ENSP00000332643:Y244C	ENSP00000332643:Y244C	Y	-	2	0	NDN	21482727	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.517000	0.53443	1.762000	0.52044	0.459000	0.35465	TAC		PASS	0.587	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		18	51	18	51	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931908	23931908	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:23931908G>T	ENST00000331837.4	-	1	542	c.457C>A	c.(457-459)Ctg>Atg	p.L153M		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	153	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L153M(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTCAGGTGCAGCCCGAACACC	0.622									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)CTG>ATG		necdin							37.0	39.0	38.0					15																	23931908		2203	4300	6503	SO:0001583	missense	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931908G>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.457C>A	15.37:g.23931908G>T	ENSP00000332643:p.Leu153Met						p.L153M	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	543	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	153			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.457C>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698160	0.68386	.	.	ENSG00000182636	ENST00000331837	T	0.05513	3.43	4.08	4.08	0.47627	.	0.084385	0.48767	D	0.000176	T	0.18882	0.0453	L	0.56340	1.77	0.34847	D	0.741272	D	0.76494	0.999	D	0.75484	0.986	T	0.09357	-1.0678	10	0.87932	D	0	.	12.5323	0.56122	0.0:0.0:1.0:0.0	.	153	Q99608	NECD_HUMAN	M	153	ENSP00000332643:L153M	ENSP00000332643:L153M	L	-	1	2	NDN	21483001	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.892000	0.28322	2.222000	0.72286	0.561000	0.74099	CTG		PASS	0.622	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		9	31	9	31	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28228542	28228542	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:28228542G>A	ENST00000354638.3	-	14	1607	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	OCA2_ENST00000353809.5_Silent_p.I460I|OCA2_ENST00000382996.2_Silent_p.I484I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	484					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.I484I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAGGGTCCCCGATGGCAGTGG	0.493									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1450-1452)ATC>ATT		oculocutaneous albinism II							143.0	119.0	127.0					15																	28228542		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28228542G>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1452C>T	15.37:g.28228542G>A						OCA2_uc010ayv.2_Silent_p.I460I	p.I484I	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	14	1562	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	484			Extracellular (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1452C>T	CCDS10020.1																																																																																				PASS	0.493	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		14	92	14	92	---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33359865	33359865	+	Intron	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:33359865G>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Missense_Mutation_p.S74Y|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.S74Y			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S74Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GCCATTGCTGGAATCATCCTG	0.458																																						uc001zhf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)TCC>TAC		formin 1							72.0	70.0	71.0					15																	33359865		1924	4167	6091	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33359865G>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2590C>A	15.37:g.33359865G>T						FMN1_uc001zhg.2_Missense_Mutation_p.S74Y	p.S74Y	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	221	-		all_lung(180;1.14e-07)	Error:Variant_position_missing_in_Q68DA7_after_alignment					Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.221C>A		.	.	.	.	.	.	.	.	.	.	G	1.530	-0.544493	0.04024	.	.	ENSG00000248905	ENST00000334528	T	0.38560	1.13	4.84	1.29	0.21616	.	.	.	.	.	T	0.28466	0.0704	.	.	.	.	.	.	B;B	0.14805	0.011;0.011	B;B	0.19946	0.027;0.027	T	0.28073	-1.0055	7	0.54805	T	0.06	.	3.9912	0.09538	0.0815:0.2915:0.411:0.216	.	74;74	Q68DA7-3;Q68DA7-5	.;.	Y	74	ENSP00000333950:S74Y	ENSP00000333950:S74Y	S	-	2	0	FMN1	31147157	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	0.261000	0.18442	0.560000	0.29169	-0.282000	0.10007	TCC		PASS	0.458	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		17	104	17	104	---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40902467	40902467	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:40902467G>C	ENST00000346991.5	+	6	612	c.222G>C	c.(220-222)atG>atC	p.M74I	CASC5_ENST00000527044.1_Missense_Mutation_p.M74I|snoU13_ENST00000459027.1_RNA|CASC5_ENST00000399668.2_Missense_Mutation_p.M74I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	74	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.M74I(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGTCTCATATGAAAATAGTGA	0.308																																						uc010bbs.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|central_nervous_system(1)|skin(1)	5						c.(220-222)ATG>ATC		cancer susceptibility candidate 5 isoform 1							92.0	88.0	90.0					15																	40902467		1800	4066	5866	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40902467G>C	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.222G>C	15.37:g.40902467G>C	ENSP00000335463:p.Met74Ile					CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.2_Missense_Mutation_p.M74I|CASC5_uc010bbt.1_Missense_Mutation_p.M74I	p.M74I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	6	383	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	74			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.222G>C	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453888	0.43531	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000527044;ENST00000399668	T;T;T	0.25085	1.82;1.82;1.82	4.77	2.73	0.32206	.	0.483378	0.19199	N	0.120223	T	0.18257	0.0438	L	0.46157	1.445	0.21675	N	0.999591	B;B;B	0.32829	0.386;0.386;0.386	B;B;B	0.28011	0.085;0.085;0.085	T	0.11494	-1.0585	10	0.37606	T	0.19	.	6.148	0.20296	0.2331:0.0:0.7669:0.0	.	74;74;74	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	I	74	ENSP00000335463:M74I;ENSP00000432654:M74I;ENSP00000382576:M74I	ENSP00000260369:M74I	M	+	3	0	CASC5	38689759	0.888000	0.30383	0.969000	0.41365	0.979000	0.70002	0.792000	0.26929	1.211000	0.43351	0.563000	0.77884	ATG		PASS	0.308	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		37	152	37	152	---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40912985	40912985	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:40912985A>C	ENST00000346991.5	+	11	991	c.601A>C	c.(601-603)Acc>Ccc	p.T201P	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.T175P			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	201	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T201P(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGAAAAGTCCACCAAGATAGA	0.363																																						uc010bbs.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|central_nervous_system(1)|skin(1)	5						c.(601-603)ACC>CCC		cancer susceptibility candidate 5 isoform 1							79.0	77.0	77.0					15																	40912985		1829	4080	5909	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40912985A>C	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.601A>C	15.37:g.40912985A>C	ENSP00000335463:p.Thr201Pro					CASC5_uc010ucq.1_Missense_Mutation_p.T25P|CASC5_uc001zme.2_Missense_Mutation_p.T175P|CASC5_uc010bbt.1_Missense_Mutation_p.T175P	p.T201P	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	762	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	201			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.601A>C	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568840	0.45798	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05513	3.43;3.43	6.04	0.389	0.16269	.	0.980624	0.08362	N	0.957531	T	0.06690	0.0171	L	0.55481	1.735	0.09310	N	1	B;B;B	0.18610	0.01;0.01;0.029	B;B;B	0.16289	0.015;0.015;0.015	T	0.42531	-0.9446	10	0.52906	T	0.07	.	2.2506	0.04042	0.5452:0.1019:0.1343:0.2186	.	175;201;175	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	P	201;175;175	ENSP00000335463:T201P;ENSP00000382576:T175P	ENSP00000260369:T175P	T	+	1	0	CASC5	38700277	0.000000	0.05858	0.005000	0.12908	0.966000	0.64601	0.534000	0.23098	0.150000	0.19136	0.460000	0.39030	ACC		PASS	0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		19	125	19	125	---	---	---	---
SPINT1	6692	broad.mit.edu	37	15	41146845	41146845	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:41146845G>C	ENST00000344051.4	+	8	1357	c.1123G>C	c.(1123-1125)Ggc>Cgc	p.G375R	SPINT1_ENST00000562057.1_Missense_Mutation_p.G359R|SPINT1_ENST00000431806.1_Missense_Mutation_p.G359R			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	375					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.G375R(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)		AGACACGAGTGGCTTTGACGA	0.592																																						uc001zna.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1123-1125)GGC>CGC		serine peptidase inhibitor, Kunitz type 1							126.0	119.0	121.0					15																	41146845		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146845G>C		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.1123G>C	15.37:g.41146845G>C	ENSP00000342098:p.Gly375Arg					SPINT1_uc001znb.2_Missense_Mutation_p.G359R|SPINT1_uc001znc.2_Missense_Mutation_p.G359R|SPINT1_uc010ucs.1_Missense_Mutation_p.G366R	p.G375R	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)	8	1327	+		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)	375					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.1123G>C	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864687	0.51482	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95821	-3.8;-3.82	4.97	2.07	0.26955	.	0.638180	0.17374	N	0.176579	D	0.93936	0.8059	L	0.52126	1.63	0.30124	N	0.805423	D;B;P	0.60160	0.987;0.098;0.495	P;B;B	0.53450	0.726;0.046;0.079	D	0.88518	0.3094	10	0.22706	T	0.39	-19.9718	7.3832	0.26868	0.2743:0.0:0.7257:0.0	.	359;359;375	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	R	375;342;359	ENSP00000342098:G375R;ENSP00000409935:G359R	ENSP00000342098:G375R	G	+	1	0	SPINT1	38934137	0.898000	0.30612	0.583000	0.28640	0.949000	0.60115	1.540000	0.36115	0.238000	0.21222	0.557000	0.71058	GGC		PASS	0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		34	145	34	145	---	---	---	---
EHD4	30844	broad.mit.edu	37	15	42192959	42192959	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:42192959A>C	ENST00000220325.4	-	6	1593	c.1510T>G	c.(1510-1512)Ttc>Gtc	p.F504V	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	504	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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.F504V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GCCAGCGCGAACTCCTCCTCA	0.632																																						uc001zot.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1510-1512)TTC>GTC		EH-domain containing 4							64.0	55.0	58.0					15																	42192959		2203	4299	6502	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42192959A>C	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1510T>G	15.37:g.42192959A>C	ENSP00000220325:p.Phe504Val						p.F504V	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1573	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	504			EF-hand.|EH.		Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.1510T>G	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266385	0.80358	.	.	ENSG00000103966	ENST00000220325	T	0.60171	0.21	4.83	3.67	0.42095	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.050603	0.85682	N	0.000000	D	0.86192	0.5874	H	0.99842	4.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89667	0.3881	10	0.87932	D	0	-19.5983	11.7749	0.51981	0.8526:0.1474:0.0:0.0	.	504	Q9H223	EHD4_HUMAN	V	504	ENSP00000220325:F504V	ENSP00000220325:F504V	F	-	1	0	EHD4	39980251	1.000000	0.71417	0.994000	0.49952	0.874000	0.50279	9.267000	0.95665	0.763000	0.33175	0.443000	0.29094	TTC		PASS	0.632	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		24	43	24	43	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43044761	43044761	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:43044761C>G	ENST00000267890.6	-	14	2791	c.2683G>C	c.(2683-2685)Gac>Cac	p.D895H		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	895					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D895H(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTAGAGAGGTCTCCTTGATGA	0.418																																						uc001zqo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(2683-2685)GAC>CAC		tau tubulin kinase 2							81.0	81.0	81.0					15																	43044761		1881	4109	5990	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044761C>G	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2683G>C	15.37:g.43044761C>G	ENSP00000267890:p.Asp895His					TTBK2_uc010bcy.2_Missense_Mutation_p.D826H	p.D895H	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	3122	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	895					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.2683G>C	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727300	0.48833	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39056	1.1	5.87	5.87	0.94306	.	0.236934	0.41001	D	0.000964	T	0.44414	0.1292	L	0.54323	1.7	0.33254	D	0.558854	P;P	0.41569	0.755;0.641	P;B	0.44946	0.465;0.365	T	0.61768	-0.6995	10	0.72032	D	0.01	.	10.5651	0.45167	0.0:0.8576:0.0:0.1424	.	826;895	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	H	895;825;1300	ENSP00000267890:D895H	ENSP00000263802:D1300H	D	-	1	0	TTBK2	40832053	0.997000	0.39634	0.994000	0.49952	0.991000	0.79684	2.480000	0.45206	2.785000	0.95823	0.655000	0.94253	GAC		PASS	0.418	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		40	144	40	144	---	---	---	---
ZSCAN29	146050	broad.mit.edu	37	15	43661911	43661911	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:43661911C>G	ENST00000396976.2	-	1	335	c.201G>C	c.(199-201)ctG>ctC	p.L67L	TUBGCP4_ENST00000570081.1_Intron|ZSCAN29_ENST00000562072.1_Silent_p.L66L|ZSCAN29_ENST00000563508.1_5'Flank|ZSCAN29_ENST00000396972.1_Silent_p.L67L|TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank|ZSCAN29_ENST00000568898.1_Silent_p.L66L	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	67	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L67L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GTAAGACGGTCAGGAACTGCT	0.522																																						uc001zrk.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(199-201)CTG>CTC		zinc finger protein 690							100.0	99.0	99.0					15																	43661911		2201	4299	6500	SO:0001819	synonymous_variant	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43661911C>G	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.201G>C	15.37:g.43661911C>G						ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Silent_p.L66L|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Silent_p.L66L|ZSCAN29_uc001zrm.2_Silent_p.L66L|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	p.L67L	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	1	348	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	67			SCAN box.		B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	ENST00000396976.2	37	c.201G>C	CCDS10095.2																																																																																				PASS	0.522	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		28	161	28	161	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43821418	43821418	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:43821418G>A	ENST00000300231.5	+	4	8197	c.7747G>A	c.(7747-7749)Gag>Aag	p.E2583K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E2583K|MAP1A_ENST00000382031.1_Missense_Mutation_p.E2821K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2583					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.E2583K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCTGACCCCGAGGGGCTCAG	0.667																																						uc001zrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(7747-7749)GAG>AAG		microtubule-associated protein 1A	Estramustine(DB01196)						29.0	33.0	32.0					15																	43821418		1864	4080	5944	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821418G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7747G>A	15.37:g.43821418G>A	ENSP00000300231:p.Glu2583Lys						p.E2583K	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	8214	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2583					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.7747G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908701	0.52439	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02498	4.34;4.27;4.34	4.95	4.95	0.65309	.	.	.	.	.	T	0.12220	0.0297	L	0.57536	1.79	0.51012	D	0.999903	D	0.76494	0.999	D	0.63488	0.915	T	0.00394	-1.1767	9	0.72032	D	0.01	-19.0772	18.3795	0.90445	0.0:0.0:1.0:0.0	.	2583	P78559	MAP1A_HUMAN	K	2821;2583;2583	ENSP00000371462:E2821K;ENSP00000382380:E2583K;ENSP00000300231:E2583K	ENSP00000300231:E2583K	E	+	1	0	MAP1A	41608710	1.000000	0.71417	0.961000	0.40146	0.978000	0.69477	4.880000	0.63107	2.557000	0.86248	0.462000	0.41574	GAG		PASS	0.667	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		9	43	9	43	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44943814	44943814	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:44943814T>C	ENST00000261866.7	-	6	1347	c.1331A>G	c.(1330-1332)gAa>gGa	p.E444G	SPG11_ENST00000427534.2_Missense_Mutation_p.E444G|SPG11_ENST00000559193.1_Missense_Mutation_p.E444G|SPG11_ENST00000535302.2_Missense_Mutation_p.E444G|SPG11_ENST00000558319.1_Missense_Mutation_p.E444G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	444					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.E444G(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCCCATCCTTTCCACTTCCCA	0.453																																						uc001ztx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1330-1332)GAA>GGA		spatacsin isoform 1							211.0	187.0	195.0					15																	44943814		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44943814T>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1331A>G	15.37:g.44943814T>C	ENSP00000261866:p.Glu444Gly					SPG11_uc010ueh.1_Missense_Mutation_p.E444G|SPG11_uc010uei.1_Missense_Mutation_p.E444G|SPG11_uc001zua.1_Missense_Mutation_p.E444G	p.E444G	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	6	1362	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	444			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.1331A>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	7.455	0.643459	0.14451	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78003	-1.14;-0.88;-0.88	6.17	2.66	0.31614	.	0.468619	0.22829	N	0.055137	T	0.63827	0.2544	L	0.28740	0.885	0.09310	N	1	B;B;B;B	0.11235	0.001;0.002;0.004;0.001	B;B;B;B	0.08055	0.002;0.003;0.003;0.002	T	0.52208	-0.8606	10	0.41790	T	0.15	.	8.4518	0.32875	0.0:0.2126:0.0:0.7874	.	444;444;444;444	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	G	444	ENSP00000261866:E444G;ENSP00000445278:E444G;ENSP00000396110:E444G	ENSP00000261866:E444G	E	-	2	0	SPG11	42731106	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	0.668000	0.25127	0.213000	0.20722	0.533000	0.62120	GAA		PASS	0.453	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			39	284	39	284	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51828679	51828679	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:51828679C>G	ENST00000251076.5	-	12	2285	c.1998G>C	c.(1996-1998)ttG>ttC	p.L666F	DMXL2_ENST00000449909.3_Missense_Mutation_p.L666F|DMXL2_ENST00000543779.2_Missense_Mutation_p.L666F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	666						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.L666F(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GAGAGGATGTCAATAACAGTG	0.363																																						uc002abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)	9						c.(1996-1998)TTG>TTC		Dmx-like 2							92.0	91.0	91.0					15																	51828679		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51828679C>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1998G>C	15.37:g.51828679C>G	ENSP00000251076:p.Leu666Phe					DMXL2_uc010ufy.1_Missense_Mutation_p.L666F|DMXL2_uc010bfa.2_Missense_Mutation_p.L666F	p.L666F	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	12	2223	-			666					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.1998G>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232149	0.58777	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.12361	2.69;2.69;2.69	5.24	1.8	0.24995	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.30696	0.0773	M	0.82517	2.595	0.23581	N	0.997368	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.996	T	0.10800	-1.0614	10	0.87932	D	0	.	1.616	0.02704	0.1837:0.4378:0.1817:0.1968	.	666;666;666	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	F	666	ENSP00000251076:L666F;ENSP00000441858:L666F;ENSP00000400855:L666F	ENSP00000251076:L666F	L	-	3	2	DMXL2	49615971	0.985000	0.35326	0.976000	0.42696	0.982000	0.71751	0.226000	0.17776	1.127000	0.42034	0.655000	0.94253	TTG		PASS	0.363	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		31	155	31	155	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54847657	54847657	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:54847657G>C	ENST00000260323.11	+	28	5905	c.5905G>C	c.(5905-5907)Ggt>Cgt	p.G1969R	UNC13C_ENST00000537900.1_Missense_Mutation_p.G1967R|UNC13C_ENST00000545554.1_Missense_Mutation_p.G1969R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1969	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.G1969R(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGATGCCAGGGGTCTGACGCC	0.423																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(5905-5907)GGT>CGT		unc-13 homolog C							78.0	76.0	77.0					15																	54847657		1957	4136	6093	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54847657G>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5905G>C	15.37:g.54847657G>C	ENSP00000260323:p.Gly1969Arg						p.G1969R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	27	5905	+			1969			MHD2.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5905G>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975021	0.53720	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.73152	-0.72;-0.72;-0.72	5.69	4.77	0.60923	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.149509	0.56097	D	0.000021	T	0.65386	0.2686	N	0.24115	0.695	0.34468	D	0.702545	D	0.54772	0.968	P	0.55303	0.773	T	0.72959	-0.4133	10	0.44086	T	0.13	.	7.4374	0.27164	0.2541:0.0:0.7459:0.0	.	1969	Q8NB66	UN13C_HUMAN	R	1969;1969;1967	ENSP00000260323:G1969R;ENSP00000438156:G1969R;ENSP00000442569:G1967R	ENSP00000260323:G1969R	G	+	1	0	UNC13C	52634949	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.640000	0.54350	1.406000	0.46857	0.655000	0.94253	GGT		PASS	0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		7	48	7	48	---	---	---	---
PIGB	9488	broad.mit.edu	37	15	55611485	55611485	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:55611485G>C	ENST00000164305.5	+	1	328	c.37G>C	c.(37-39)Ggg>Cgg	p.G13R	RAB27A_ENST00000561545.1_5'Flank|RP11-139H15.1_ENST00000565225.1_RNA|RP11-139H15.1_ENST00000436697.2_RNA|PIGB_ENST00000569909.1_3'UTR|RP11-139H15.1_ENST00000567948.1_RNA|PIGB_ENST00000539642.1_5'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	13					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|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)	mannosyltransferase activity (GO:0000030)	p.G13R(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		AATGGAGCCGGGGGGCGGAGA	0.577																																						uc002act.2																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)GGG>CGG		phosphatidylinositol glycan, class B							21.0	25.0	24.0					15																	55611485		1914	4131	6045	SO:0001583	missense	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55611485G>C	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.37G>C	15.37:g.55611485G>C	ENSP00000164305:p.Gly13Arg					uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR	p.G13R	NM_004855	NP_004846	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	1	353	+			13					Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37	c.37G>C		.	.	.	.	.	.	.	.	.	.	G	11.56	1.676425	0.29783	.	.	ENSG00000069943	ENST00000164305	T	0.53206	0.63	4.67	1.64	0.23874	.	0.676714	0.13450	N	0.386947	T	0.22859	0.0552	N	0.08118	0	0.20489	N	0.999896	B	0.12013	0.005	B	0.14023	0.01	T	0.21965	-1.0230	10	0.16420	T	0.52	-0.9084	7.0313	0.24969	0.0941:0.3313:0.5746:0.0	.	13	Q92521	PIGB_HUMAN	R	13	ENSP00000164305:G13R	ENSP00000164305:G13R	G	+	1	0	PIGB	53398777	0.154000	0.22792	0.002000	0.10522	0.005000	0.04900	0.959000	0.29240	0.555000	0.29079	0.591000	0.81541	GGG		PASS	0.577	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		3	11	3	11	---	---	---	---
TPM1	7168	broad.mit.edu	37	15	63356324	63356324	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:63356324C>G	ENST00000403994.3	+	9	914	c.834C>G	c.(832-834)ctC>ctG	p.L278L	TPM1_ENST00000559281.1_Silent_p.L242L|TPM1_ENST00000288398.6_Silent_p.L278L|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000559397.1_Intron	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	278					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.L278L(1)		endometrium(1)|large_intestine(1)|lung(2)	4						ACCACGCTCTCAACGATATGA	0.502																																						uc002alg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(832-834)CTC>CTG		tropomyosin 1 alpha chain isoform 1							141.0	105.0	117.0					15																	63356324		2203	4300	6503	SO:0001819	synonymous_variant	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63356324C>G	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.834C>G	15.37:g.63356324C>G						TPM1_uc002alh.2_Silent_p.L278L|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Intron|TPM1_uc002alj.2_Intron|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Intron|TPM1_uc010uie.1_Silent_p.L278L|TPM1_uc002alp.2_Silent_p.L278L|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Intron|TPM1_uc010uig.1_Intron|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron	p.L278L	NM_001018005	NP_001018005	P09493	TPM1_HUMAN			9	1025	+			278			By similarity.		B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Silent	SNP	ENST00000403994.3	37	c.834C>G	CCDS45273.1																																																																																				PASS	0.502	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		5	42	5	42	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967613	64967613	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:64967613G>T	ENST00000326648.3	+	4	2688	c.2560G>T	c.(2560-2562)Gat>Tat	p.D854Y		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	854						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.D854Y(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCTGGGGAGGATGGGGAGGG	0.522																																						uc002ann.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(2560-2562)GAT>TAT		zinc finger protein 609							69.0	73.0	71.0					15																	64967613		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64967613G>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2560G>T	15.37:g.64967613G>T	ENSP00000316527:p.Asp854Tyr						p.D854Y	NM_015042	NP_055857	O15014	ZN609_HUMAN			4	2560	+			854					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.2560G>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762329	0.69763	.	.	ENSG00000180357	ENST00000326648	T	0.66280	-0.2	5.63	5.63	0.86233	.	0.041214	0.85682	D	0.000000	T	0.79335	0.4428	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80462	-0.1372	10	0.87932	D	0	-19.6774	19.6835	0.95972	0.0:0.0:1.0:0.0	.	854	O15014	ZN609_HUMAN	Y	854	ENSP00000316527:D854Y	ENSP00000316527:D854Y	D	+	1	0	ZNF609	62754666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.654000	0.90174	0.561000	0.74099	GAT		PASS	0.522	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		23	124	23	124	---	---	---	---
ANKDD1A	348094	broad.mit.edu	37	15	65235752	65235752	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:65235752G>T	ENST00000380230.3	+	11	1068	c.1039G>T	c.(1039-1041)Ggg>Tgg	p.G347W	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.G347W|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.G347W|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.G256W	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	347					signal transduction (GO:0007165)			p.G347W(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CCTCATTGCTGGGGTTGACTT	0.552																																						uc002aoa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1039-1041)GGG>TGG		ankyrin repeat and death domain containing 1A							203.0	194.0	197.0					15																	65235752		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65235752G>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1039G>T	15.37:g.65235752G>T	ENSP00000369579:p.Gly347Trp					ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.G256W	p.G347W	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN			11	1068	+			347			ANK 10.		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.1039G>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610897	0.66558	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	T;T;T;T	0.37235	1.62;1.62;1.62;1.21	5.42	4.5	0.54988	Ankyrin repeat-containing domain (4);	0.086766	0.44688	D	0.000428	T	0.70911	0.3278	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81536	-0.0888	10	0.87932	D	0	-37.17	15.1387	0.72590	0.0:0.1418:0.8582:0.0	.	347	Q495B1	AKD1A_HUMAN	W	347;347;347;256	ENSP00000369579:G347W;ENSP00000350329:G347W;ENSP00000379070:G347W;ENSP00000379073:G256W	ENSP00000350329:G347W	G	+	1	0	ANKDD1A	63022805	1.000000	0.71417	0.168000	0.22838	0.647000	0.38526	5.717000	0.68446	1.514000	0.48869	0.655000	0.94253	GGG		PASS	0.552	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		74	391	74	391	---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65793003	65793003	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:65793003G>C	ENST00000341861.5	-	4	2115	c.535C>G	c.(535-537)Ctg>Gtg	p.L179V	Y_RNA_ENST00000516408.1_RNA|DPP8_ENST00000300141.6_Missense_Mutation_p.L163V|DPP8_ENST00000339244.5_Missense_Mutation_p.L179V|DPP8_ENST00000559233.1_Missense_Mutation_p.L179V|DPP8_ENST00000321147.6_Missense_Mutation_p.L179V|DPP8_ENST00000358939.4_Missense_Mutation_p.L163V|DPP8_ENST00000321118.7_Missense_Mutation_p.L179V	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	179					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.L163V(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTTGAAACAGAAATGTTCCA	0.403																																						uc002aov.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(535-537)CTG>GTG		dipeptidyl peptidase 8 isoform 1							192.0	181.0	185.0					15																	65793003		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65793003G>C	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.535C>G	15.37:g.65793003G>C	ENSP00000339208:p.Leu179Val					DPP8_uc002aow.2_Missense_Mutation_p.L179V|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.L163V|DPP8_uc002aoy.2_Missense_Mutation_p.L179V|DPP8_uc002aoz.2_Missense_Mutation_p.L163V|DPP8_uc010bhj.2_Missense_Mutation_p.L179V|DPP8_uc002apa.2_Missense_Mutation_p.L76V	p.L179V	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			4	2113	-			179					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.535C>G	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550649	0.45383	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.91	3.73	0.42828	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.56097	D	0.000022	T	0.46151	0.1378	L	0.43152	1.355	0.20873	N	0.999839	P;D;P;P	0.67145	0.712;0.996;0.815;0.756	B;D;B;P	0.75484	0.327;0.986;0.421;0.456	T	0.23119	-1.0197	10	0.23891	T	0.37	-0.1877	9.9181	0.41448	0.278:0.0:0.722:0.0	.	163;163;179;179	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	V	179;163;163;179;179;179;179	ENSP00000339208:L179V;ENSP00000351817:L163V;ENSP00000300141:L163V;ENSP00000318111:L179V;ENSP00000316373:L179V;ENSP00000341230:L179V;ENSP00000379013:L179V	ENSP00000300141:L163V	L	-	1	2	DPP8	63580056	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.167000	0.42415	1.505000	0.48720	0.650000	0.86243	CTG		PASS	0.403	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		63	282	63	282	---	---	---	---
RPL4	6124	broad.mit.edu	37	15	66793360	66793360	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:66793360C>T	ENST00000307961.6	-	7	852	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	SNORD18B_ENST00000365659.1_RNA|SNORD18A_ENST00000363753.1_RNA|SNORD18C_ENST00000362704.1_RNA|SNORD16_ENST00000362803.1_RNA|RPL4_ENST00000568588.1_Missense_Mutation_p.E160K	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	254					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.E254K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						AAAGCACTTTCAGTCCAAATG	0.418																																						uc002apv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)GAA>AAA		ribosomal protein L4							70.0	68.0	69.0					15																	66793360		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66793360C>T	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.760G>A	15.37:g.66793360C>T	ENSP00000311430:p.Glu254Lys					RPL4_uc010bhr.2_Missense_Mutation_p.E160K|RPL4_uc002apw.2_Missense_Mutation_p.E160K|RPL4_uc002apx.2_Missense_Mutation_p.E160K|RPL4_uc010ujq.1_3'UTR	p.E254K	NM_000968	NP_000959	P36578	RL4_HUMAN			7	816	-			254					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.760G>A	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843203	0.71488	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.5	5.5	0.81552	Ribosomal protein L4 domain (2);	0.103186	0.64402	D	0.000004	T	0.51958	0.1705	L	0.28115	0.83	0.80722	D	1	B	0.23249	0.082	B	0.26517	0.07	T	0.45440	-0.9261	9	0.15499	T	0.54	-22.6703	19.425	0.94737	0.0:1.0:0.0:0.0	.	254	P36578	RL4_HUMAN	K	254	.	ENSP00000311430:E254K	E	-	1	0	RPL4	64580414	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.698000	0.84413	2.584000	0.87258	0.563000	0.77884	GAA		PASS	0.418	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		24	130	24	130	---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74573101	74573101	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:74573101A>G	ENST00000398814.3	+	9	1413	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E	CCDC33_ENST00000321288.5_Missense_Mutation_p.K531E	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	531	C2.							p.K328E(1)|p.K531E(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGACAGGGAAAGGCTTGGA	0.642																																						uc002axo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(982-984)AAA>GAA		coiled-coil domain containing 33 isoform 1							74.0	83.0	80.0					15																	74573101		1956	4150	6106	SO:0001583	missense	80125						protein binding	g.chr15:74573101A>G	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.982A>G	15.37:g.74573101A>G	ENSP00000381795:p.Lys328Glu					CCDC33_uc002axp.2_Missense_Mutation_p.K150E	p.K328E	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			9	1376	+			531	K -> E (in Ref. 1; BAG51911).				A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.982A>G	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.519134	0.44866	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.24538	1.85;2.19	4.84	3.62	0.41486	.	0.582285	0.16713	N	0.202595	T	0.44159	0.1280	M	0.68317	2.08	0.09310	N	1	D;D	0.67145	0.979;0.996	P;D	0.77557	0.525;0.99	T	0.12477	-1.0546	10	0.45353	T	0.12	.	8.1466	0.31115	0.7962:0.2038:0.0:0.0	.	531;328	C9JFX2;Q8N5R6-6	.;.	E	531;328	ENSP00000325012:K531E;ENSP00000381795:K328E	ENSP00000325012:K531E	K	+	1	0	CCDC33	72360154	0.624000	0.27102	0.673000	0.29887	0.419000	0.31324	0.625000	0.24477	1.936000	0.56123	0.482000	0.46254	AAA		PASS	0.642	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		19	104	19	104	---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75652298	75652298	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:75652298C>T	ENST00000267978.5	-	15	1784	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M	MAN2C1_ENST00000569482.1_Missense_Mutation_p.V580M|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V481M|MAN2C1_ENST00000565683.1_Missense_Mutation_p.V580M|MAN2C1_ENST00000563539.1_5'Flank	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	580					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V580M(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTCCAGTCACCACATCATGG	0.577																																						uc002baf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1738-1740)GTG>ATG		mannosidase, alpha, class 2C, member 1							55.0	56.0	56.0					15																	75652298		2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75652298C>T	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.1738G>A	15.37:g.75652298C>T	ENSP00000267978:p.Val580Met					MAN2C1_uc002bag.2_Missense_Mutation_p.V580M|MAN2C1_uc002bah.2_Missense_Mutation_p.V580M|MAN2C1_uc010bkk.2_Missense_Mutation_p.V481M|MAN2C1_uc010umi.1_Missense_Mutation_p.V362M	p.V580M	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			15	1755	-			580					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.1738G>A	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224565	0.39300	.	.	ENSG00000140400	ENST00000267978	T	0.78816	-1.21	4.63	2.48	0.30137	Glycoside hydrolase, family 38, central domain (2);	0.182212	0.35677	N	0.003048	T	0.74160	0.3680	N	0.21373	0.66	0.34340	D	0.688701	P;P;P	0.42993	0.797;0.748;0.748	P;B;B	0.54889	0.763;0.328;0.328	T	0.80139	-0.1507	10	0.72032	D	0.01	-15.5901	9.3756	0.38281	0.1273:0.4844:0.3884:0.0	.	362;580;580	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	M	580	ENSP00000267978:V580M	ENSP00000267978:V580M	V	-	1	0	MAN2C1	73439351	0.009000	0.17119	1.000000	0.80357	0.994000	0.84299	0.137000	0.15995	0.902000	0.36520	0.462000	0.41574	GTG		PASS	0.577	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			8	36	8	36	---	---	---	---
CHRNB4	1143	broad.mit.edu	37	15	78922232	78922232	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:78922232C>A	ENST00000261751.3	-	5	526	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	139					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.G139C(1)|p.G139S(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	AGGACGCTGCCGTTGGACCGG	0.572																																						uc002bed.1																			2	Substitution - Missense(2)		lung(2)		0						c.(415-417)GGC>TGC		cholinergic receptor, nicotinic, beta 4							41.0	44.0	43.0					15																	78922232		2196	4292	6488	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78922232C>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.415G>T	15.37:g.78922232C>A	ENSP00000261751:p.Gly139Cys					CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	p.G139C	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	527	-			139			Extracellular (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.415G>T	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101873	0.56183	.	.	ENSG00000117971	ENST00000261751	D	0.97404	-4.37	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99211	0.9726	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98742	1.0717	10	0.87932	D	0	.	18.2167	0.89887	0.0:1.0:0.0:0.0	.	139	P30926	ACHB4_HUMAN	C	139	ENSP00000261751:G139C	ENSP00000261751:G139C	G	-	1	0	CHRNB4	76709287	1.000000	0.71417	0.956000	0.39512	0.065000	0.16274	7.766000	0.85320	2.301000	0.77427	0.655000	0.94253	GGC		PASS	0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			15	41	15	41	---	---	---	---
BNC1	646	broad.mit.edu	37	15	83933054	83933054	+	Missense_Mutation	SNP	T	T	C	rs185901046		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:83933054T>C	ENST00000345382.2	-	4	1034	c.949A>G	c.(949-951)Agc>Ggc	p.S317G	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.S310G	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	317					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S317G(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAATGGGTGCTGTCTTCTTTT	0.428													T|||	1	0.000199681	0.0	0.0	5008	,	,		21095	0.0		0.001	False		,,,				2504	0.0					uc002bjt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(949-951)AGC>GGC		basonuclin 1							118.0	119.0	118.0					15																	83933054		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83933054T>C	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.949A>G	15.37:g.83933054T>C	ENSP00000307041:p.Ser317Gly					BNC1_uc010uos.1_Missense_Mutation_p.S305G	p.S317G	NM_001717	NP_001708	Q01954	BNC1_HUMAN			4	1037	-			317					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.949A>G	CCDS10324.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	7.883	0.730658	0.15507	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.45668	0.89	5.23	-1.27	0.09347	.	0.856075	0.10940	N	0.617355	T	0.33440	0.0863	L	0.60455	1.87	0.09310	N	1	B;B	0.15930	0.015;0.0	B;B	0.12837	0.008;0.0	T	0.29336	-1.0015	10	0.33940	T	0.23	-0.4962	5.7333	0.18053	0.1954:0.5434:0.0:0.2612	.	310;317	F5GY04;Q01954	.;BNC1_HUMAN	G	317;310	ENSP00000307041:S317G	ENSP00000307041:S317G	S	-	1	0	BNC1	81724058	0.000000	0.05858	0.005000	0.12908	0.733000	0.41908	0.234000	0.17930	-0.119000	0.11830	0.533000	0.62120	AGC		PASS	0.428	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		62	139	62	139	---	---	---	---
ZNF592	9640	broad.mit.edu	37	15	85326210	85326210	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:85326210C>T	ENST00000560079.2	+	4	592	c.304C>T	c.(304-306)Cca>Tca	p.P102S	ZNF592_ENST00000299927.3_Missense_Mutation_p.P102S	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	102					cell death (GO:0008219)|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.P102S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGATCTGCCTCCAGATCCCCA	0.502																																						uc002bld.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(304-306)CCA>TCA		zinc finger protein 592							59.0	62.0	61.0					15																	85326210		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326210C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.304C>T	15.37:g.85326210C>T	ENSP00000452877:p.Pro102Ser					ZNF592_uc010upb.1_RNA	p.P102S	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	640	+			102					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.304C>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	3.920	-0.018329	0.07681	.	.	ENSG00000166716	ENST00000299927	T	0.00603	6.28	6.06	-4.09	0.03951	.	0.929670	0.09353	N	0.813903	T	0.00300	0.0009	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.36016	-0.9765	10	0.19147	T	0.46	0.7139	6.1687	0.20404	0.0963:0.177:0.5356:0.1911	.	102	Q92610	ZN592_HUMAN	S	102	ENSP00000299927:P102S	ENSP00000299927:P102S	P	+	1	0	ZNF592	83127214	0.000000	0.05858	0.055000	0.19348	0.995000	0.86356	-0.808000	0.04515	-1.156000	0.02818	-0.140000	0.14226	CCA		PASS	0.502	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		37	88	37	88	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85478750	85478750	+	Splice_Site	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:85478750G>A	ENST00000286749.3	+	14	1671		c.e14+1		RNU6-339P_ENST00000384310.1_RNA|SLC28A1_ENST00000394573.1_Splice_Site|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000537624.1_Splice_Site			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1						nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.?(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GTGGATCTCCGTGAGTGTCCC	0.647																																						uc002blg.2																			1	Unknown(1)		lung(1)	skin(2)|ovary(1)	3						c.e15+1		solute carrier family 28, member 1 isoform 1							77.0	76.0	76.0					15																	85478750		2203	4299	6502	SO:0001630	splice_region_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478750G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1581+1G>A	15.37:g.85478750G>A						SLC28A1_uc010bnb.2_Splice_Site_p.S527_splice|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Splice_Site_p.S527_splice|SLC28A1_uc010upg.1_Splice_Site_p.S527_splice	p.S527_splice	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		15	1783	+								A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Splice_Site	SNP	ENST00000286749.3	37	c.1581_splice	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306505	0.40795	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2565	0.82519	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC28A1	83279754	1.000000	0.71417	0.964000	0.40570	0.053000	0.15095	9.280000	0.95786	2.698000	0.92095	0.455000	0.32223	.		PASS	0.647	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		Intron	56	93	56	93	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86807964	86807964	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:86807964C>A	ENST00000441037.2	+	10	1519	c.1424C>A	c.(1423-1425)aCc>aAc	p.T475N	AGBL1_ENST00000421325.2_Missense_Mutation_p.T475N|AGBL1_ENST00000389298.3_Missense_Mutation_p.T206N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	475					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.T475N(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCCAGAAGAACCAGCTCTGTG	0.483																																						uc002blz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1423-1425)ACC>AAC		ATP/GTP binding protein-like 1							116.0	115.0	115.0					15																	86807964		1925	4121	6046	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86807964C>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1424C>A	15.37:g.86807964C>A	ENSP00000413001:p.Thr475Asn					AGBL1_uc002bma.1_Missense_Mutation_p.T206N|AGBL1_uc002bmb.1_Missense_Mutation_p.T169N	p.T475N	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			10	1504	+			475					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1424C>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806405	0.50421	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.30714	1.52;1.52	5.81	5.81	0.92471	Armadillo-type fold (1);	0.054593	0.64402	D	0.000001	T	0.56978	0.2022	M	0.79123	2.44	0.32603	N	0.525688	D;D;D	0.89917	1.0;1.0;0.981	D;D;P	0.85130	0.997;0.997;0.77	T	0.68462	-0.5402	10	0.87932	D	0	-21.499	14.2743	0.66170	0.0:0.927:0.0:0.073	.	174;206;475	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	N	504;475;206	ENSP00000397173:T475N;ENSP00000373949:T206N	ENSP00000373949:T206N	T	+	2	0	AGBL1	84608968	1.000000	0.71417	0.426000	0.26672	0.079000	0.17450	3.158000	0.50723	2.755000	0.94549	0.650000	0.86243	ACC		PASS	0.483	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		70	148	70	148	---	---	---	---
DET1	55070	broad.mit.edu	37	15	89074044	89074044	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:89074044C>A	ENST00000268148.8	-	2	1038	c.893G>T	c.(892-894)cGg>cTg	p.R298L	DET1_ENST00000564406.1_Missense_Mutation_p.R309L|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.R309L|DET1_ENST00000558413.1_3'UTR	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	298						nucleus (GO:0005634)		p.R309Q(1)|p.R309L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TACCAGCAACCGGTGTTTGAG	0.532																																						uc002bmr.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(1)|pancreas(1)	2						c.(892-894)CGG>CTG		de-etiolated 1 isoform 2							43.0	44.0	43.0					15																	89074044		1944	4149	6093	SO:0001583	missense	55070					nucleus		g.chr15:89074044C>A	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.893G>T	15.37:g.89074044C>A	ENSP00000268148:p.Arg298Leu					DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.R309L	p.R298L	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		2	1045	-	Lung NSC(78;0.105)|all_lung(78;0.182)		298					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.893G>T	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809516	0.90707	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84924	0.5580	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70935	0.971;0.971	D	0.85992	0.1489	9	0.87932	D	0	-37.6227	19.8676	0.96824	0.0:1.0:0.0:0.0	.	298;309	Q7L5Y6;B3KNN6	DET1_HUMAN;.	L	309;298	.	ENSP00000268148:R298L	R	-	2	0	DET1	86875048	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.097000	0.76967	2.941000	0.99782	0.655000	0.94253	CGG		PASS	0.532	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		12	72	12	72	---	---	---	---
TICRR	90381	broad.mit.edu	37	15	90149999	90149999	+	Splice_Site	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:90149999G>C	ENST00000268138.7	+	14	2770	c.2665G>C	c.(2665-2667)Gag>Cag	p.E889Q	KIF7_ENST00000558928.1_5'Flank|TICRR_ENST00000560985.1_Splice_Site_p.E888Q			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	889					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E889Q(1)									CATGTTTCAGGAGAACTCTCA	0.358																																						uc002boe.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(2665-2667)GAG>CAG		leucine-rich repeat kinase 1							86.0	78.0	81.0					15																	90149999		1821	4092	5913	SO:0001630	splice_region_variant	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90149999G>C	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2665-1G>C	15.37:g.90149999G>C							p.E889Q	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		14	2665	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		889					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.2665G>C	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392275	0.83011	.	.	ENSG00000140534	ENST00000268138	T	0.16073	2.37	5.93	5.93	0.95920	.	0.119220	0.56097	D	0.000024	T	0.40670	0.1126	M	0.64997	1.995	0.46078	D	0.998851	D	0.89917	1.0	D	0.77004	0.989	T	0.01652	-1.1303	9	.	.	.	-15.7172	17.5099	0.87757	0.0:0.0:1.0:0.0	.	889	Q7Z2Z1	TICRR_HUMAN	Q	889	ENSP00000268138:E889Q	.	E	+	1	0	C15orf42	87951003	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	5.108000	0.64609	2.826000	0.97356	0.655000	0.94253	GAG		PASS	0.358	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	Missense_Mutation	8	82	8	82	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	90996132	90996132	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:90996132C>G	ENST00000268182.5	+	12	1412	c.1288C>G	c.(1288-1290)Cag>Gag	p.Q430E	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	430					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.Q430E(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CGATCTCTATCAGAAGGAGCT	0.512																																						uc002bpl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(1288-1290)CAG>GAG		IQ motif containing GTPase activating protein 1							66.0	65.0	65.0					15																	90996132		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90996132C>G	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1288C>G	15.37:g.90996132C>G	ENSP00000268182:p.Gln430Glu						p.Q430E	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		12	1389	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		430					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.1288C>G	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942425	0.92526	.	.	ENSG00000140575	ENST00000268182	T	0.12465	2.68	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	M	0.83312	2.635	0.80722	D	1	B	0.34181	0.44	B	0.40329	0.326	T	0.08289	-1.0729	10	0.66056	D	0.02	-20.9909	17.8311	0.88683	0.0:1.0:0.0:0.0	.	430	P46940	IQGA1_HUMAN	E	430	ENSP00000268182:Q430E	ENSP00000268182:Q430E	Q	+	1	0	IQGAP1	88797136	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.585000	0.82584	2.674000	0.91012	0.655000	0.94253	CAG		PASS	0.512	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		4	53	4	53	---	---	---	---
SV2B	9899	broad.mit.edu	37	15	91827444	91827444	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:91827444G>C	ENST00000394232.1	+	11	2171	c.1701G>C	c.(1699-1701)aaG>aaC	p.K567N	SV2B_ENST00000545111.2_Missense_Mutation_p.K416N|SV2B_ENST00000330276.4_Missense_Mutation_p.K567N	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	567					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.K567N(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GAAGGCTCAAGATGATTGGTG	0.473																																						uc002bqv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1699-1701)AAG>AAC		synaptic vesicle protein 2B homolog							84.0	78.0	80.0					15																	91827444		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91827444G>C	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1701G>C	15.37:g.91827444G>C	ENSP00000377779:p.Lys567Asn					SV2B_uc010uqv.1_Missense_Mutation_p.K416N|SV2B_uc002bqu.3_RNA	p.K567N	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		10	2092	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		567			Helical; (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.1701G>C	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.877736	0.33162	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.21734	1.99;1.99;1.99	5.82	3.97	0.46021	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.143251	0.64402	D	0.000013	T	0.19167	0.0460	L	0.47716	1.5	0.51482	D	0.999923	B	0.24258	0.1	B	0.25405	0.06	T	0.03278	-1.1053	10	0.25751	T	0.34	-28.8978	11.6597	0.51339	0.1342:0.0:0.8658:0.0	.	567	Q7L1I2	SV2B_HUMAN	N	416;567;567	ENSP00000443243:K416N;ENSP00000377779:K567N;ENSP00000332818:K567N	ENSP00000332818:K567N	K	+	3	2	SV2B	89628448	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.185000	0.42584	0.836000	0.34901	-0.482000	0.04802	AAG		PASS	0.473	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		28	139	28	139	---	---	---	---
CERS3	204219	broad.mit.edu	37	15	100996212	100996212	+	Silent	SNP	G	G	C	rs149637953		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr15:100996212G>C	ENST00000394113.1	-	13	1575	c.885C>G	c.(883-885)ctC>ctG	p.L295L	CERS3_ENST00000538112.2_Silent_p.L295L|CERS3_ENST00000284382.4_Silent_p.L295L|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	295	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.L295L(1)									AGAAAGGCTCGAGGTGATACA	0.388																																						uc002bvz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(883-885)CTC>CTG		LAG1 longevity assurance homolog 3							105.0	96.0	99.0					15																	100996212		2203	4300	6503	SO:0001819	synonymous_variant	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:100996212G>C		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.885C>G	15.37:g.100996212G>C						LASS3_uc002bwa.2_Silent_p.L306L|LASS3_uc002bwb.2_Silent_p.L295L	p.L295L	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		12	1387	-	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		295			TLC.		Q8NE64|Q8NEN6	Silent	SNP	ENST00000394113.1	37	c.885C>G	CCDS10384.1																																																																																				PASS	0.388	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		18	63	18	63	---	---	---	---
RAB11FIP3	9727	broad.mit.edu	37	16	553072	553072	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:553072G>C	ENST00000262305.4	+	7	1758	c.1370G>C	c.(1369-1371)gGc>gCc	p.G457A	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.G502A|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.G161A	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	457					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.G457A(1)		breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CTCATGGAGGGCCCAGAGGAG	0.602																																					Melanoma(160;2366 2595 4474 8099)	uc002chf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1369-1371)GGC>GCC		rab11-family interacting protein 3 isoform 1							68.0	67.0	67.0					16																	553072		2202	4300	6502	SO:0001583	missense	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:553072G>C	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1370G>C	16.37:g.553072G>C	ENSP00000262305:p.Gly457Ala					RAB11FIP3_uc010uuf.1_Missense_Mutation_p.G161A|RAB11FIP3_uc010uug.1_Missense_Mutation_p.G192A	p.G457A	NM_014700	NP_055515	O75154	RFIP3_HUMAN			7	1709	+		Hepatocellular(16;0.0218)	457					B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	ENST00000262305.4	37	c.1370G>C	CCDS32351.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.397532	0.01175	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585;ENST00000450428;ENST00000452814;ENST00000448401	.	.	.	5.79	4.84	0.62591	.	.	.	.	.	T	0.36991	0.0987	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17465	0.022;0.0;0.005	B;B;B	0.18871	0.023;0.003;0.005	T	0.21109	-1.0255	8	0.15952	T	0.53	-15.737	11.647	0.51267	0.0823:0.0:0.9177:0.0	.	502;161;457	O75154-3;O75154-2;O75154	.;.;RFIP3_HUMAN	A	457;502;378;161;147;161	.	ENSP00000262305:G457A	G	+	2	0	RAB11FIP3	493073	0.028000	0.19301	0.008000	0.14137	0.688000	0.40055	2.069000	0.41481	1.456000	0.47831	0.650000	0.86243	GGC		PASS	0.602	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		20	114	20	114	---	---	---	---
MSLN	10232	broad.mit.edu	37	16	815722	815722	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:815722C>T	ENST00000382862.3	+	10	922	c.827C>T	c.(826-828)tCt>tTt	p.S276F	MSLN_ENST00000563941.1_Missense_Mutation_p.S276F|MSLN_ENST00000545450.2_Missense_Mutation_p.S276F|MSLN_ENST00000566549.1_Missense_Mutation_p.S276F	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	276	Required for megakaryocyte-potentiating factor activity.				cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S276F(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAACGCTCCTCTCGGGACCCA	0.716																																						uc002cjw.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(826-828)TCT>TTT		mesothelin isoform 2 preproprotein							21.0	25.0	24.0					16																	815722		2176	4279	6455	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:815722C>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.827C>T	16.37:g.815722C>T	ENSP00000372313:p.Ser276Phe					MSLN_uc002cjt.1_Missense_Mutation_p.S276F|MSLN_uc002cju.1_Missense_Mutation_p.S276F|MSLN_uc010brd.1_Missense_Mutation_p.S275F|MSLN_uc002cjv.1_Missense_Mutation_p.S276F|MSLN_uc002cjx.1_Missense_Mutation_p.S276F|MSLN_uc002cjy.1_5'Flank	p.S276F	NM_013404	NP_037536	Q13421	MSLN_HUMAN			10	878	+		Hepatocellular(780;0.00335)	276			Required for megakaryocyte-potentiating factor activity.		D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.827C>T	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621508	0.46736	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.17854	2.25;2.25	4.67	-1.77	0.07982	.	1.359800	0.04991	U	0.467355	T	0.29256	0.0728	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.59357	0.981;0.985;0.981;0.981	P;D;P;P	0.63877	0.867;0.919;0.867;0.867	T	0.26883	-1.0090	10	0.38643	T	0.18	-7.6659	2.6096	0.04887	0.3551:0.2859:0.0:0.3591	.	275;276;276;276	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	F	276	ENSP00000442965:S276F;ENSP00000372313:S276F	ENSP00000372313:S276F	S	+	2	0	MSLN	755723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.874000	0.04210	-0.094000	0.12374	-1.167000	0.01749	TCT		PASS	0.716	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			5	46	5	46	---	---	---	---
RPUSD1	113000	broad.mit.edu	37	16	837161	837161	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:837161C>G	ENST00000561734.1	-	3	568	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	RPUSD1_ENST00000007264.2_Missense_Mutation_p.E109Q|RPUSD1_ENST00000565809.1_Intron|CHTF18_ENST00000455171.2_5'Flank|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000567114.1_5'UTR			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	109					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.E109Q(1)		endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				ACCCGGCTCTCCTGGATGTGC	0.662																																						uc002cka.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GAG>CAG		RNA pseudouridylate synthase domain containing							43.0	39.0	41.0					16																	837161		2189	4296	6485	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:837161C>G	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.325G>C	16.37:g.837161C>G	ENSP00000455026:p.Glu109Gln					RPUSD1_uc002ckb.2_Missense_Mutation_p.E109Q|RPUSD1_uc002ckc.2_5'UTR|RPUSD1_uc002ckd.2_Intron|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	p.E109Q	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN			3	559	-		Hepatocellular(780;0.00335)	109					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.325G>C	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657479	0.29425	.	.	ENSG00000007376	ENST00000007264	T	0.16324	2.35	4.4	4.4	0.53042	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.283745	0.37483	N	0.002066	T	0.12902	0.0313	L	0.27053	0.805	0.80722	D	1	B	0.21452	0.056	B	0.20955	0.032	T	0.06338	-1.0832	10	0.41790	T	0.15	-12.7896	12.4276	0.55556	0.0:0.8293:0.1707:0.0	.	109	Q9UJJ7	RUSD1_HUMAN	Q	109	ENSP00000007264:E109Q	ENSP00000007264:E109Q	E	-	1	0	RPUSD1	777162	0.088000	0.21588	0.988000	0.46212	0.816000	0.46133	1.097000	0.30988	2.277000	0.76020	0.549000	0.68633	GAG		PASS	0.662	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		3	24	3	24	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1257399	1257399	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:1257399T>C	ENST00000348261.5	+	14	3280	c.3032T>C	c.(3031-3033)gTg>gCg	p.V1011A	RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1011A|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1011A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1011					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.V1011A(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AACCTGCTGGTGGCCATCCTC	0.647																																						uc002cks.2																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(3031-3033)GTG>GCG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						41.0	40.0	41.0					16																	1257399		2024	4164	6188	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1257399T>C	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3032T>C	16.37:g.1257399T>C	ENSP00000334198:p.Val1011Ala					CACNA1H_uc002ckt.2_Missense_Mutation_p.V1011A|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank	p.V1011A	NM_021098	NP_066921	O95180	CAC1H_HUMAN			14	3280	+		Hepatocellular(780;0.00369)	1011			II.|Helical; Name=S6 of repeat II; (Potential).		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.3032T>C	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460564	0.84317	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98762	-5.12;-5.12	3.3	3.3	0.37823	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99017	0.9664	M	0.87269	2.87	0.43673	D	0.996107	D;D	0.89917	1.0;0.985	D;D	0.87578	0.998;0.981	D	0.99445	1.0939	10	0.87932	D	0	.	11.0082	0.47646	0.0:0.0:0.0:1.0	.	1011;1011	O95180-2;O95180	.;CAC1H_HUMAN	A	1011	ENSP00000334198:V1011A;ENSP00000351401:V1011A	ENSP00000334198:V1011A	V	+	2	0	CACNA1H	1197400	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.971000	0.70440	1.390000	0.46547	0.459000	0.35465	GTG		PASS	0.647	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	22	4	22	---	---	---	---
TRAF7	84231	broad.mit.edu	37	16	2223818	2223818	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:2223818G>A	ENST00000326181.6	+	12	1248	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	372					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L372L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						ACGCGCGGCTGAACATGGGCA	0.697																																						uc002cow.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1114-1116)CTG>CTA		TNF receptor-associated factor 7							37.0	37.0	37.0					16																	2223818		2197	4299	6496	SO:0001819	synonymous_variant	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2223818G>A	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1116G>A	16.37:g.2223818G>A							p.L372L	NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN			12	1215	+			372					Q9H073	Silent	SNP	ENST00000326181.6	37	c.1116G>A	CCDS10461.1																																																																																				PASS	0.697	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		3	35	3	35	---	---	---	---
MLST8	64223	broad.mit.edu	37	16	2257038	2257038	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:2257038C>T	ENST00000569417.1	+	5	701	c.347C>T	c.(346-348)tCc>tTc	p.S116F	MLST8_ENST00000564088.1_Missense_Mutation_p.S116F|MLST8_ENST00000397124.1_Missense_Mutation_p.S116F|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000565250.1_Missense_Mutation_p.S116F|MLST8_ENST00000301724.10_Missense_Mutation_p.S116F|MLST8_ENST00000301725.7_Missense_Mutation_p.S135F|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000382450.4_Missense_Mutation_p.S115F	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	116					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S116F(3)		large_intestine(3)|lung(2)|skin(1)	6						GCCCGCAGGTCCCGGAACCTG	0.662																																						uc002coz.2																			3	Substitution - Missense(3)		lung(3)		0						c.(346-348)TCC>TTC		G protein beta subunit-like							43.0	48.0	47.0					16																	2257038		1952	4133	6085	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2257038C>T		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.347C>T	16.37:g.2257038C>T	ENSP00000456405:p.Ser116Phe					MLST8_uc002coy.2_Missense_Mutation_p.S116F|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Missense_Mutation_p.S115F|MLST8_uc010uvx.1_Missense_Mutation_p.S50F|MLST8_uc002cpc.2_Missense_Mutation_p.S116F|MLST8_uc002cpd.2_Missense_Mutation_p.S50F|MLST8_uc002cpe.2_Missense_Mutation_p.S116F|MLST8_uc002cpg.2_Missense_Mutation_p.S135F|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.S116F	p.S116F	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN			5	466	+			116			WD 3.		B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.347C>T	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776690	0.90195	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T	0.75154	1.42;-0.91;-0.11	4.81	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89757	0.6807	H	0.94886	3.595	0.80722	D	1	D;D;D	0.64830	0.994;0.986;0.987	D;P;P	0.74348	0.983;0.748;0.838	D	0.92832	0.6281	10	0.87932	D	0	-34.9677	16.4218	0.83760	0.0:1.0:0.0:0.0	.	135;50;116	Q9BVC4-4;Q9BVC4-3;Q9BVC4	.;.;LST8_HUMAN	F	116;116;116;135	ENSP00000301724:S116F;ENSP00000380313:S116F;ENSP00000301725:S135F	ENSP00000301724:S116F	S	+	2	0	MLST8	2197039	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.922000	0.63404	2.205000	0.71048	0.462000	0.41574	TCC		PASS	0.662	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		36	117	36	117	---	---	---	---
BRICD5	283870	broad.mit.edu	37	16	2260557	2260557	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:2260557C>G	ENST00000562360.1	-	2	145	c.146G>C	c.(145-147)gGa>gCa	p.G49A	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000566018.1_Missense_Mutation_p.G49A|BRICD5_ENST00000328540.3_Missense_Mutation_p.G49A			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	49						integral component of membrane (GO:0016021)		p.G49A(1)									AAGAAGCCCTCCAGCCACAAC	0.657																																						uc010bsh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(145-147)GGA>GCA		hypothetical protein LOC283870							26.0	32.0	30.0					16																	2260557		2196	4298	6494	SO:0001583	missense	283870					integral to membrane		g.chr16:2260557C>G	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.146G>C	16.37:g.2260557C>G	ENSP00000455052:p.Gly49Ala					C16orf79_uc002cpi.1_Missense_Mutation_p.G49A	p.G49A	NM_182563	NP_872369	Q6PL45	CP079_HUMAN			2	323	-			49			Helical; (Potential).		C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	c.146G>C	CCDS10463.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233111	0.39498	.	.	ENSG00000182685	ENST00000328540	T	0.25579	1.79	5.48	4.53	0.55603	.	0.153314	0.46145	D	0.000319	T	0.38427	0.1040	L	0.39245	1.2	0.41018	D	0.985059	D;D	0.89917	0.999;1.0	D;D	0.77557	0.978;0.99	T	0.06092	-1.0846	10	0.46703	T	0.11	-16.5092	10.6813	0.45815	0.0:0.9113:0.0:0.0887	.	49;49	Q6PL45;Q6PL45-2	CP079_HUMAN;.	A	49	ENSP00000332389:G49A	ENSP00000332389:G49A	G	-	2	0	C16orf79	2200558	0.060000	0.20803	0.907000	0.35723	0.819000	0.46315	1.310000	0.33551	2.571000	0.86741	0.655000	0.94253	GGA		PASS	0.657	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		11	24	11	24	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2814714	2814714	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:2814714G>A	ENST00000301740.8	+	11	4734	c.4185G>A	c.(4183-4185)ggG>ggA	p.G1395G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1395	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.G1395G(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAAAGGCAGGGATGTCTTCAA	0.458																																						uc002crk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4183-4185)GGG>GGA		splicing coactivator subunit SRm300							231.0	228.0	229.0					16																	2814714		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814714G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4185G>A	16.37:g.2814714G>A						SRRM2_uc002crj.1_Silent_p.G1299G|SRRM2_uc002crl.1_Silent_p.G1395G|SRRM2_uc010bsu.1_Silent_p.G1299G	p.G1395G	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	4734	+			1395			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.4185G>A	CCDS32373.1																																																																																				PASS	0.458	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			284	384	284	384	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2818169	2818169	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:2818169C>G	ENST00000301740.8	+	11	8189	c.7640C>G	c.(7639-7641)tCa>tGa	p.S2547*	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2547	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.S2547*(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						tcttcttcatcatcgtcgtcg	0.612																																						uc002crk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(7639-7641)TCA>TGA		splicing coactivator subunit SRm300							73.0	63.0	66.0					16																	2818169		2198	4300	6498	SO:0001587	stop_gained	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2818169C>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7640C>G	16.37:g.2818169C>G	ENSP00000301740:p.Ser2547*					SRRM2_uc002crj.1_Nonsense_Mutation_p.S2451*|SRRM2_uc002crl.1_Nonsense_Mutation_p.S2547*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.S2451*	p.S2547*	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	8189	+			2547			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	ENST00000301740.8	37	c.7640C>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434077	0.43224	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	.	.	.	5.91	5.91	0.95273	.	0.331604	0.22223	N	0.062940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.3125	15.8054	0.78501	0.0:1.0:0.0:0.0	.	.	.	.	X	2547;2129;1799	.	ENSP00000301740:S2547X	S	+	2	0	SRRM2	2758170	0.737000	0.28175	0.298000	0.25002	0.015000	0.08874	2.842000	0.48230	2.808000	0.96608	0.655000	0.94253	TCA		PASS	0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			5	40	5	40	---	---	---	---
MEFV	4210	broad.mit.edu	37	16	3304485	3304485	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:3304485C>G	ENST00000219596.1	-	2	622	c.583G>C	c.(583-585)Gag>Cag	p.E195Q	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	195					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.E195Q(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TGGCCCCCCTCTAGCGCCCTG	0.781																																						uc002cun.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(583-585)GAG>CAG		Mediterranean fever protein	Colchicine(DB01394)						5.0	7.0	6.0					16																	3304485		1934	3796	5730	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304485C>G	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.583G>C	16.37:g.3304485C>G	ENSP00000219596:p.Glu195Gln						p.E195Q	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	623	-			195					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.583G>C	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578918	0.28180	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.64438	-0.1	4.52	2.55	0.30701	.	1.513510	0.03508	N	0.219126	T	0.44973	0.1319	L	0.27053	0.805	0.09310	N	0.999999	P	0.40144	0.704	B	0.28011	0.085	T	0.44159	-0.9346	10	0.52906	T	0.07	-28.2181	5.5525	0.17099	0.2097:0.6908:0.0:0.0995	.	195	O15553	MEFV_HUMAN	Q	195	ENSP00000219596:E195Q	ENSP00000219596:E195Q	E	-	1	0	MEFV	3244486	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.260000	0.18424	0.811000	0.34303	0.655000	0.94253	GAG		PASS	0.781	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		3	17	3	17	---	---	---	---
ZNF75A	7627	broad.mit.edu	37	16	3367379	3367379	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:3367379G>C	ENST00000574298.1	+	6	874	c.401G>C	c.(400-402)aGa>aCa	p.R134T	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	134					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.R134T(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						GTGAAGAAAAGAAAGAAACTT	0.398																																						uc002cut.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(400-402)AGA>ACA		zinc finger protein 75a							61.0	60.0	60.0					16																	3367379		2197	4300	6497	SO:0001583	missense	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367379G>C	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.401G>C	16.37:g.3367379G>C	ENSP00000459566:p.Arg134Thr					ZNF75A_uc002cuv.3_RNA	p.R134T	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN			6	927	+			134					Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	c.401G>C	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	G	5.056	0.195936	0.09599	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.57	-0.982	0.10266	.	0.277450	0.26244	N	0.025489	T	0.30324	0.0761	L	0.47190	1.495	0.21355	N	0.999718	B	0.23058	0.079	B	0.18871	0.023	T	0.21245	-1.0251	9	0.62326	D	0.03	.	7.4897	0.27454	0.5351:0.0:0.4649:0.0	.	134	Q96N20	ZN75A_HUMAN	T	134	.	ENSP00000293995:R134T	R	+	2	0	ZNF75A	3307380	0.968000	0.33430	0.974000	0.42286	0.943000	0.58893	0.201000	0.17276	-0.219000	0.10003	-0.259000	0.10710	AGA		PASS	0.398	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		18	95	18	95	---	---	---	---
ZNF75A	7627	broad.mit.edu	37	16	3367399	3367399	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:3367399A>C	ENST00000574298.1	+	6	894	c.421A>C	c.(421-423)Aaa>Caa	p.K141Q	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	141					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.K141Q(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTCAACCTGGAAACAAGAGCT	0.398																																						uc002cut.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(421-423)AAA>CAA		zinc finger protein 75a							62.0	61.0	61.0					16																	3367399		2197	4300	6497	SO:0001583	missense	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367399A>C	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.421A>C	16.37:g.3367399A>C	ENSP00000459566:p.Lys141Gln					ZNF75A_uc002cuv.3_RNA	p.K141Q	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN			6	947	+			141					Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	c.421A>C	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971906	0.34754	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.57	4.57	0.56435	.	0.000000	0.47852	D	0.000212	T	0.31104	0.0786	N	0.05230	-0.09	0.28822	N	0.897622	D	0.65815	0.995	P	0.60682	0.878	T	0.13282	-1.0515	9	0.19147	T	0.46	.	12.1866	0.54243	1.0:0.0:0.0:0.0	.	141	Q96N20	ZN75A_HUMAN	Q	141	.	ENSP00000293995:K141Q	K	+	1	0	ZNF75A	3307400	0.964000	0.33143	1.000000	0.80357	0.985000	0.73830	-0.095000	0.11077	2.045000	0.60652	0.455000	0.32223	AAA		PASS	0.398	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		14	109	14	109	---	---	---	---
ZSCAN32	54925	broad.mit.edu	37	16	3433224	3433224	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:3433224C>G	ENST00000396852.4	-	7	2029	c.1722G>C	c.(1720-1722)gaG>gaC	p.E574D	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.E362D|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.E285D|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.E574D	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	574					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E362D(1)|p.L106V(1)									GATAGGGCCTCTCCCCTGTGT	0.562																																						uc002cuz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1084-1086)GAG>GAC		zinc finger protein 434							93.0	92.0	93.0					16																	3433224		2197	4300	6497	SO:0001583	missense	54925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3433224C>G	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1722G>C	16.37:g.3433224C>G	ENSP00000380061:p.Glu574Asp					ZNF434_uc002cux.3_Missense_Mutation_p.E573D|ZNF434_uc010uwx.1_Missense_Mutation_p.E285D|ZNF434_uc002cuy.3_Missense_Mutation_p.E285D	p.E362D	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN			6	1888	-			362					B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.1086G>C		.	.	.	.	.	.	.	.	.	.	C	13.22	2.171105	0.38315	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	3.57	2.61	0.31194	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31827	0.0809	N	0.17922	0.545	0.25558	N	0.987016	D;B	0.57257	0.979;0.42	D;P	0.70935	0.971;0.669	T	0.10706	-1.0618	9	0.62326	D	0.03	.	8.5157	0.33244	0.0:0.879:0.0:0.121	.	362;574	Q9NX65;Q6WMU8	ZN434_HUMAN;.	D	362;574;574;285	ENSP00000302502:E362D;ENSP00000380061:E574D;ENSP00000380057:E574D;ENSP00000391787:E285D	ENSP00000302502:E362D	E	-	3	2	ZNF434	3373225	1.000000	0.71417	0.636000	0.29352	0.997000	0.91878	1.363000	0.34159	0.489000	0.27749	0.655000	0.94253	GAG		PASS	0.562	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		21	131	21	131	---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4164000	4164000	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:4164000C>G	ENST00000294016.3	-	2	1982	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	482	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.E482Q(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCACCATCTCCTTCTTCTCC	0.597																																						uc002cvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1444-1446)GAG>CAG		adenylate cyclase 9							107.0	112.0	110.0					16																	4164000		2197	4300	6497	SO:0001583	missense	115				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	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164000C>G	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1444G>C	16.37:g.4164000C>G	ENSP00000294016:p.Glu482Gln						p.E482Q	NM_001116	NP_001107	O60503	ADCY9_HUMAN			2	1983	-			482			Cytoplasmic (Potential).|Guanylate cyclase 1.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1444G>C	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432141	0.62844	.	.	ENSG00000162104	ENST00000294016	D	0.82081	-1.57	5.28	4.32	0.51571	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	L	0.35487	1.065	0.58432	D	0.999996	P	0.35411	0.5	B	0.40329	0.326	T	0.72360	-0.4317	10	0.21014	T	0.42	.	14.2852	0.66243	0.0:0.9272:0.0:0.0728	.	482	O60503	ADCY9_HUMAN	Q	482	ENSP00000294016:E482Q	ENSP00000294016:E482Q	E	-	1	0	ADCY9	4104001	1.000000	0.71417	0.986000	0.45419	0.938000	0.57974	6.090000	0.71397	1.219000	0.43474	0.555000	0.69702	GAG		PASS	0.597	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			41	177	41	177	---	---	---	---
ERCC4	2072	broad.mit.edu	37	16	14026042	14026042	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:14026042G>A	ENST00000311895.7	+	6	1011	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000575156.1_Silent_p.S334S	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	334	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.S334S(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CCAGCACCTCGATGTTTATAA	0.338			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(1000-1002)TCG>TCA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							128.0	125.0	126.0					16																	14026042		2197	4300	6497	SO:0001819	synonymous_variant	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14026042G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1002G>A	16.37:g.14026042G>A						ERCC4_uc010bva.2_Silent_p.S334S|ERCC4_uc010uyz.1_5'UTR	p.S334S	NM_005236	NP_005227	Q92889	XPF_HUMAN			6	1011	+			334					A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	c.1002G>A	CCDS32390.1																																																																																				PASS	0.338	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		34	187	34	187	---	---	---	---
MPV17L	255027	broad.mit.edu	37	16	15494693	15494693	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:15494693G>C	ENST00000396385.3	+	2	479	c.360G>C	c.(358-360)caG>caC	p.Q120H	MPV17L_ENST00000287594.7_Intron|RP11-1021N1.1_ENST00000568222.1_Intron	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	120					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)	p.Q120H(1)		kidney(2)|large_intestine(1)|skin(1)	4						ACCTGAAACAGAAATTCTGGA	0.284																																						uc002ddn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)CAG>CAC		MPV17 mitochondrial membrane protein-like							81.0	74.0	76.0					16																	15494693		1568	3582	5150	SO:0001583	missense	255027					integral to membrane|peroxisomal membrane		g.chr16:15494693G>C	DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.360G>C	16.37:g.15494693G>C	ENSP00000379669:p.Gln120His					MPV17L_uc002ddm.2_Intron	p.Q120H	NM_001128423	NP_001121895	Q2QL34	MP17L_HUMAN			2	504	+			120			Lumenal.		B4DDY1|Q6P7T6|Q8N8E9	Missense_Mutation	SNP	ENST00000396385.3	37	c.360G>C	CCDS45421.1	.	.	.	.	.	.	.	.	.	.	.	19.66	3.869486	0.72065	.	.	ENSG00000156968	ENST00000396385	D	0.85955	-2.05	5.18	4.21	0.49690	.	2.474970	0.02085	N	0.052646	D	0.91593	0.7344	L	0.58583	1.82	0.40691	D	0.982399	D	0.76494	0.999	D	0.71184	0.972	T	0.81924	-0.0710	10	0.49607	T	0.09	-3.5179	12.2238	0.54449	0.0839:0.0:0.9161:0.0	.	120	Q2QL34	MP17L_HUMAN	H	120	ENSP00000379669:Q120H	ENSP00000379669:Q120H	Q	+	3	2	MPV17L	15402194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.945000	0.49043	2.592000	0.87571	0.643000	0.83706	CAG		PASS	0.284	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422450.1	NM_173803		8	28	8	28	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15702352	15702352	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:15702352C>G	ENST00000396368.3	-	21	4184	c.3978G>C	c.(3976-3978)aaG>aaC	p.K1326N	KIAA0430_ENST00000540441.2_Missense_Mutation_p.K1161N|KIAA0430_ENST00000547936.1_5'Flank|KIAA0430_ENST00000344181.3_Missense_Mutation_p.K928N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K1323N|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000602337.1_Missense_Mutation_p.K1323N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K1326N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1326	HTH OST-type 5. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K1326N(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GAGTAAGGATCTTTTCTTCTC	0.423																																						uc002ddr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3976-3978)AAG>AAC		limkain b1							54.0	52.0	53.0					16																	15702352		1840	4089	5929	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15702352C>G	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3978G>C	16.37:g.15702352C>G	ENSP00000379654:p.Lys1326Asn					KIAA0430_uc002ddq.2_Missense_Mutation_p.K1160N|KIAA0430_uc010uzv.1_Missense_Mutation_p.K1322N|KIAA0430_uc010uzw.1_Missense_Mutation_p.K1325N	p.K1326N	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			21	4171	-			1325					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.3978G>C	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584363	0.65992	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.97	-0.796	0.10912	.	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	L	0.58101	1.795	0.53005	D	0.999966	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.983;0.983;0.999	T	0.57688	-0.7768	10	0.72032	D	0.01	.	12.8681	0.57951	0.0:0.6542:0.0:0.3458	.	1325;1323;1322;1325	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	N	1326;1161;1266;928;1323;1326;1106	ENSP00000379654:K1326N;ENSP00000439819:K1161N;ENSP00000341939:K928N;ENSP00000449376:K1323N;ENSP00000450309:K1326N	ENSP00000315718:K1266N	K	-	3	2	KIAA0430	15609853	0.998000	0.40836	0.990000	0.47175	0.879000	0.50718	0.439000	0.21575	-0.098000	0.12285	-0.345000	0.07892	AAG		PASS	0.423	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		13	62	13	62	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16205279	16205279	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:16205279C>A	ENST00000399410.3	+	22	3094	c.2919C>A	c.(2917-2919)ttC>ttA	p.F973L	ABCC1_ENST00000346370.5_Missense_Mutation_p.F917L|ABCC1_ENST00000351154.5_Missense_Mutation_p.F914L|ABCC1_ENST00000349029.5_Missense_Mutation_p.F858L|ABCC1_ENST00000399408.2_Missense_Mutation_p.F983L|ABCC1_ENST00000345148.5_Missense_Mutation_p.F973L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	973					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.F973L(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TCGGACTCTTCATCTCCTTCC	0.537																																						uc010bvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2917-2919)TTC>TTA		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						214.0	224.0	221.0					16																	16205279		2112	4225	6337	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16205279C>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2919C>A	16.37:g.16205279C>A	ENSP00000382342:p.Phe973Leu					ABCC1_uc010bvj.2_Missense_Mutation_p.F914L|ABCC1_uc010bvk.2_Missense_Mutation_p.F917L|ABCC1_uc010bvl.2_Missense_Mutation_p.F973L|ABCC1_uc010bvm.2_Missense_Mutation_p.F858L|ABCC1_uc002del.3_Missense_Mutation_p.F867L	p.F973L	NM_004996	NP_004987	P33527	MRP1_HUMAN			22	3094	+			973			Helical; Name=12.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.2919C>A	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766812	0.15983	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.66	2.25	0.28309	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, transmembrane domain (1);	0.462483	0.27008	N	0.021390	T	0.73737	0.3625	L	0.28344	0.845	0.09310	N	0.999992	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.09377	0.003;0.002;0.001;0.001;0.004;0.002	T	0.54801	-0.8239	10	0.17369	T	0.5	-24.3006	5.285	0.15696	0.0:0.4595:0.3127:0.2278	.	858;973;917;914;973;983	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	L	973;983;917;914;973;858;657	ENSP00000382342:F973L;ENSP00000382340:F983L;ENSP00000263019:F917L;ENSP00000263017:F914L;ENSP00000263014:F973L;ENSP00000263016:F858L	ENSP00000263014:F973L	F	+	3	2	ABCC1	16112780	0.987000	0.35691	0.317000	0.25265	0.851000	0.48451	0.497000	0.22514	0.724000	0.32296	0.650000	0.86243	TTC		PASS	0.537	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		38	170	38	170	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20636813	20636813	+	Missense_Mutation	SNP	C	C	T	rs549226687		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:20636813C>T	ENST00000307493.4	-	11	1526	c.1459G>A	c.(1459-1461)Gct>Act	p.A487T	ACSM1_ENST00000219151.4_Missense_Mutation_p.A138T|ACSM1_ENST00000520010.1_Missense_Mutation_p.A487T	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	487					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.A138T(1)|p.A487T(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCACCAAAGCGCTTTCAACC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20157	0.0		0.0	False		,,,				2504	0.001					uc002dhm.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(1459-1461)GCT>ACT		acyl-CoA synthetase medium-chain family member							63.0	55.0	58.0					16																	20636813		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20636813C>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1459G>A	16.37:g.20636813C>T	ENSP00000301956:p.Ala487Thr					ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.A487T	p.A487T	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			11	1527	-			487					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.1459G>A	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	c	17.40	3.379481	0.61845	.	.	ENSG00000166743	ENST00000307493;ENST00000219151;ENST00000520010	T;T;T	0.61859	0.07;0.07;0.07	4.47	4.47	0.54385	AMP-dependent synthetase/ligase (1);	0.286088	0.24657	N	0.036676	T	0.74222	0.3688	M	0.68952	2.095	0.41573	D	0.988693	D	0.89917	1.0	D	0.87578	0.998	T	0.77451	-0.2583	10	0.66056	D	0.02	.	16.4125	0.83723	0.0:1.0:0.0:0.0	.	487	Q08AH1	ACSM1_HUMAN	T	487;138;487	ENSP00000301956:A487T;ENSP00000219151:A138T;ENSP00000428047:A487T	ENSP00000219151:A138T	A	-	1	0	ACSM1	20544314	0.997000	0.39634	0.948000	0.38648	0.003000	0.03518	3.972000	0.56838	2.469000	0.83416	0.655000	0.94253	GCT		PASS	0.602	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		8	38	8	38	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24788259	24788259	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:24788259G>C	ENST00000395799.3	+	5	298	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q	TNRC6A_ENST00000562829.1_3'UTR|TNRC6A_ENST00000315183.7_Missense_Mutation_p.E57Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	57	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E57Q(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATTAGTGCCAGAACAGATAAA	0.433																																						uc002dmm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(169-171)GAA>CAA		trinucleotide repeat containing 6A							88.0	94.0	92.0					16																	24788259		2040	4219	6259	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24788259G>C	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.169G>C	16.37:g.24788259G>C	ENSP00000379144:p.Glu57Gln					TNRC6A_uc010bxs.2_5'UTR	p.E57Q	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	5	283	+			57					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.169G>C	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824943	0.90955	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.17691	2.33;2.26	5.92	5.92	0.95590	.	0.068170	0.64402	D	0.000012	T	0.34687	0.0906	L	0.52011	1.625	0.80722	D	1	D	0.64830	0.994	P	0.56960	0.81	T	0.01004	-1.1484	10	0.87932	D	0	-13.3477	20.33	0.98713	0.0:0.0:1.0:0.0	.	57	Q8NDV7	TNR6A_HUMAN	Q	57	ENSP00000326900:E57Q;ENSP00000379144:E57Q	ENSP00000326900:E57Q	E	+	1	0	TNRC6A	24695760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.893000	0.87330	2.810000	0.96702	0.585000	0.79938	GAA		PASS	0.433	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		13	79	13	79	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24902291	24902291	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:24902291G>A	ENST00000347898.3	+	9	1388	c.766G>A	c.(766-768)Gat>Aat	p.D256N	SLC5A11_ENST00000565769.1_Missense_Mutation_p.D192N|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D192N|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D221N|SLC5A11_ENST00000567758.1_Missense_Mutation_p.D221N|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D186N|SLC5A11_ENST00000568579.1_Missense_Mutation_p.D186N	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.D256N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCCCCGGGAAGATGCCTTCCA	0.577																																						uc002dmu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(766-768)GAT>AAT		solute carrier family 5 (sodium/glucose							124.0	125.0	125.0					16																	24902291		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24902291G>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.766G>A	16.37:g.24902291G>A	ENSP00000289932:p.Asp256Asn					SLC5A11_uc002dms.2_Missense_Mutation_p.D192N|SLC5A11_uc010vcd.1_Missense_Mutation_p.D221N|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.D186N|SLC5A11_uc010bxt.2_Missense_Mutation_p.D192N	p.D256N	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	9	998	+			256			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.766G>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306363	0.95629	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.92854	0.7727	L	0.52011	1.625	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.941	D;D;P	0.87578	0.998;0.983;0.676	D	0.92778	0.6238	10	0.56958	D	0.05	.	17.3547	0.87332	0.0:0.0:1.0:0.0	.	186;221;256	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	N	256;221;186;192	ENSP00000289932:D256N;ENSP00000416782:D221N;ENSP00000441384:D186N;ENSP00000441018:D192N	ENSP00000289932:D256N	D	+	1	0	SLC5A11	24809792	1.000000	0.71417	0.324000	0.25361	0.924000	0.55760	9.687000	0.98667	2.700000	0.92200	0.650000	0.86243	GAT		PASS	0.577	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		41	157	41	157	---	---	---	---
KDM8	79831	broad.mit.edu	37	16	27221543	27221543	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:27221543G>C	ENST00000286096.4	+	2	272	c.99G>C	c.(97-99)ctG>ctC	p.L33L	KDM8_ENST00000441782.2_Silent_p.L71L|KDM8_ENST00000568965.1_Silent_p.L33L|KDM8_ENST00000380948.2_Silent_p.L33L	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	33					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)	p.L71L(1)|p.L33L(1)									AAGAAGACCTGAAGTTGGACC	0.612																																						uc002doh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(97-99)CTG>CTC		jumonji domain containing 5 isoform 2							63.0	47.0	52.0					16																	27221543		2194	4292	6486	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27221543G>C	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.99G>C	16.37:g.27221543G>C						JMJD5_uc010bxv.2_Silent_p.L33L|JMJD5_uc010vcn.1_Silent_p.L71L|JMJD5_uc010bxw.2_Silent_p.L33L	p.L33L	NM_024773	NP_079049	Q8N371	KDM8_HUMAN			2	281	+			33					B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.99G>C	CCDS10627.1																																																																																				PASS	0.612	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		11	64	11	64	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27363887	27363887	+	Silent	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:27363887A>G	ENST00000395762.2	+	7	799	c.540A>G	c.(538-540)ctA>ctG	p.L180L	IL4R_ENST00000380922.3_Silent_p.L165L|IL4R_ENST00000170630.2_Silent_p.L180L|IL4R_ENST00000449195.1_Silent_p.L180L|IL4R_ENST00000543915.2_Silent_p.L180L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	180	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.L180L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGACCTACCTAGAACCCTCCC	0.597																																						uc002don.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(538-540)CTA>CTG		interleukin 4 receptor alpha chain isoform a							88.0	79.0	82.0					16																	27363887		2197	4300	6497	SO:0001819	synonymous_variant	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27363887A>G	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.540A>G	16.37:g.27363887A>G						IL4R_uc002dom.2_Silent_p.L180L|IL4R_uc002dop.3_Silent_p.L165L|IL4R_uc010bxy.2_Silent_p.L180L|IL4R_uc002doo.2_Silent_p.L20L	p.L180L	NM_000418	NP_000409	P24394	IL4RA_HUMAN			7	782	+			180			Extracellular (Potential).|Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	c.540A>G	CCDS10629.1																																																																																				PASS	0.597	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			31	95	31	95	---	---	---	---
ATP2A1	487	broad.mit.edu	37	16	28914161	28914161	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:28914161C>T	ENST00000357084.3	+	19	2940	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	ATP2A1_ENST00000395503.4_Silent_p.F891F|ATP2A1_ENST00000536376.1_Silent_p.F766F	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	891					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.F891F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GTGAGGTCTTCGAGGCCCCCG	0.617																																						uc002dro.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2671-2673)TTC>TTT		ATPase, Ca++ transporting, fast twitch 1 isoform							87.0	74.0	78.0					16																	28914161		2197	4300	6497	SO:0001819	synonymous_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28914161C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2673C>T	16.37:g.28914161C>T						uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.F891F|ATP2A1_uc002drp.1_Silent_p.F766F	p.F891F	NM_173201	NP_775293	O14983	AT2A1_HUMAN			19	2857	+			891			Lumenal (By similarity).		A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	c.2673C>T	CCDS10643.1																																																																																				PASS	0.617	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		7	23	7	23	---	---	---	---
ZNF48	197407	broad.mit.edu	37	16	30409555	30409555	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:30409555G>A	ENST00000320159.2	+	2	1360	c.984G>A	c.(982-984)gaG>gaA	p.E328E	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	328					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.E328E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						ACACGGGTGAGAAGCCCTACC	0.637																																						uc002dya.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(982-984)GAG>GAA		zinc finger protein 48							85.0	85.0	85.0					16																	30409555		2197	4300	6497	SO:0001819	synonymous_variant	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409555G>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.984G>A	16.37:g.30409555G>A						ZNF48_uc002dxz.1_Silent_p.E205E	p.E328E	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN			2	1043	+			328					Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	ENST00000320159.2	37	c.984G>A	CCDS10679.1																																																																																				PASS	0.637	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		13	68	13	68	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31091514	31091514	+	Missense_Mutation	SNP	G	G	A	rs200908817		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:31091514G>A	ENST00000394979.2	+	1	4292	c.3869G>A	c.(3868-3870)cGa>cAa	p.R1290Q	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1290Q			O15015	ZN646_HUMAN	zinc finger protein 646	1290					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.R1290Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGGGGCACCCGAAAGGCGACT	0.701																																						uc002eap.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(3868-3870)CGA>CAA		zinc finger protein 646							20.0	22.0	22.0					16																	31091514		2192	4297	6489	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31091514G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3869G>A	16.37:g.31091514G>A	ENSP00000378429:p.Arg1290Gln						p.R1290Q	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	4158	+			1290					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.3869G>A		.	.	.	.	.	.	.	.	.	.	G	8.850	0.944397	0.18356	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.09073	3.02;3.04	5.75	2.72	0.32119	.	.	.	.	.	T	0.04588	0.0125	N	0.13168	0.305	0.09310	N	1	B	0.27971	0.196	B	0.24155	0.051	T	0.45131	-0.9282	9	0.11485	T	0.65	-2.0582	9.8137	0.40840	0.2232:0.0:0.7768:0.0	.	1290	O15015-2	.	Q	1290	ENSP00000300850:R1290Q;ENSP00000378429:R1290Q	ENSP00000300850:R1290Q	R	+	2	0	ZNF646	30999015	0.001000	0.12720	0.035000	0.18076	0.298000	0.27526	0.983000	0.29552	0.341000	0.23771	0.561000	0.74099	CGA		PASS	0.701	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		6	27	6	27	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31091695	31091695	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:31091695G>C	ENST00000394979.2	+	1	4473	c.4050G>C	c.(4048-4050)gaG>gaC	p.E1350D	ZNF646_ENST00000300850.5_Missense_Mutation_p.E1350D			O15015	ZN646_HUMAN	zinc finger protein 646	1350					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.E1350D(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGCACTCAGAGAATCGGCGGC	0.687																																						uc002eap.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(4048-4050)GAG>GAC		zinc finger protein 646							51.0	50.0	51.0					16																	31091695		2197	4299	6496	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31091695G>C	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4050G>C	16.37:g.31091695G>C	ENSP00000378429:p.Glu1350Asp						p.E1350D	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	4339	+			1350					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.4050G>C		.	.	.	.	.	.	.	.	.	.	G	8.377	0.836740	0.16891	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.09350	2.99;3.02	5.26	2.07	0.26955	.	.	.	.	.	T	0.04452	0.0122	N	0.11284	0.12	0.33272	D	0.561119	B	0.27997	0.197	B	0.28465	0.09	T	0.35599	-0.9782	9	0.12430	T	0.62	-3.5693	3.9463	0.09350	0.0849:0.2893:0.4664:0.1594	.	1350	O15015-2	.	D	1350	ENSP00000300850:E1350D;ENSP00000378429:E1350D	ENSP00000300850:E1350D	E	+	3	2	ZNF646	30999196	0.591000	0.26824	1.000000	0.80357	0.695000	0.40330	0.127000	0.15790	0.726000	0.32339	0.655000	0.94253	GAG		PASS	0.687	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		8	52	8	52	---	---	---	---
PRSS53	339105	broad.mit.edu	37	16	31098057	31098057	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:31098057G>C	ENST00000280606.6	-	4	558	c.405C>G	c.(403-405)gcC>gcG	p.A135A		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	135	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.A135A(1)		large_intestine(1)|lung(3)	4						TCGTGGGGTGGGCGAGCTGCA	0.687																																						uc002eaq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(403-405)GCC>GCG		polyserase 3 precursor							30.0	38.0	35.0					16																	31098057		1969	4118	6087	SO:0001819	synonymous_variant	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31098057G>C		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.405C>G	16.37:g.31098057G>C						PRSS53_uc002ear.2_5'UTR	p.A135A	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN			4	405	-			135			Peptidase S1 1.			Silent	SNP	ENST00000280606.6	37	c.405C>G	CCDS42153.1																																																																																				PASS	0.687	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		10	41	10	41	---	---	---	---
PRSS36	146547	broad.mit.edu	37	16	31150511	31150511	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:31150511G>T	ENST00000268281.4	-	15	2574	c.2516C>A	c.(2515-2517)tCc>tAc	p.S839Y	PRSS36_ENST00000569305.1_Missense_Mutation_p.S834Y|PRSS36_ENST00000418068.2_Missense_Mutation_p.S736Y	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	839						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.S839Y(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGCATGCGGGGATCCCGAGGC	0.637																																						uc002ebd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2515-2517)TCC>TAC		protease, serine, 36 precursor							46.0	47.0	46.0					16																	31150511		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31150511G>T	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2516C>A	16.37:g.31150511G>T	ENSP00000268281:p.Ser839Tyr					PRSS36_uc010vff.1_Missense_Mutation_p.S614Y|PRSS36_uc010vfg.1_Missense_Mutation_p.S834Y|PRSS36_uc010vfh.1_Missense_Mutation_p.S736Y	p.S839Y	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			15	2575	-			839					A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.2516C>A	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935301	0.34189	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.91180	-2.64;-2.8	5.58	2.52	0.30459	.	.	.	.	.	D	0.86372	0.5917	N	0.24115	0.695	0.09310	N	1	P;B;B	0.49185	0.92;0.047;0.047	P;B;B	0.49421	0.61;0.055;0.055	T	0.77183	-0.2681	9	0.66056	D	0.02	.	8.0371	0.30499	0.263:0.0:0.737:0.0	.	736;834;839	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	Y	839;736	ENSP00000268281:S839Y;ENSP00000407160:S736Y	ENSP00000268281:S839Y	S	-	2	0	PRSS36	31058012	0.963000	0.33076	0.840000	0.33206	0.029000	0.11900	1.549000	0.36212	0.712000	0.32039	0.561000	0.74099	TCC		PASS	0.637	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		16	74	16	74	---	---	---	---
GPT2	84706	broad.mit.edu	37	16	46931634	46931634	+	Silent	SNP	C	C	T	rs569163082		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:46931634C>T	ENST00000340124.4	+	3	430	c.318C>T	c.(316-318)atC>atT	p.I106I	GPT2_ENST00000440783.2_Silent_p.I6I	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	106					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.I106I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	AGCAGCCAATCACCTTCCTCC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15778	0.0		0.0	False		,,,				2504	0.001					uc002eel.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(316-318)ATC>ATT		glutamic pyruvate transaminase 2 isoform 1	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						42.0	45.0	44.0					16																	46931634		2203	4300	6503	SO:0001819	synonymous_variant	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46931634C>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.318C>T	16.37:g.46931634C>T						GPT2_uc002eem.2_Silent_p.I6I	p.I106I	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN			3	412	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	106					Q8N9E2	Silent	SNP	ENST00000340124.4	37	c.318C>T	CCDS10725.1																																																																																				PASS	0.662	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			35	32	35	32	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50348317	50348317	+	Splice_Site	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:50348317G>T	ENST00000394697.2	+	24	3311	c.2971G>T	c.(2971-2973)Ggc>Tgc	p.G991C	ADCY7_ENST00000254235.3_Splice_Site_p.G991C			P51828	ADCY7_HUMAN	adenylate cyclase 7	991	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|cellular response to ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.G991C(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCTCCGCGTCGGTGAGCCCGG	0.607																																						uc002egd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2971-2973)GGC>TGC		adenylate cyclase 7	Bromocriptine(DB01200)						58.0	42.0	47.0					16																	50348317		2198	4300	6498	SO:0001630	splice_region_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50348317G>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2971+1G>T	16.37:g.50348317G>T							p.G991C	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	23	3239	+		all_cancers(37;0.0127)	991			Cytoplasmic (Potential).|Guanylate cyclase 2.		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.2971G>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065008	0.76187	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	D;D	0.97850	-4.57;-4.57	5.12	5.12	0.69794	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.45361	U	0.000374	D	0.99438	0.9801	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97925	1.0317	10	0.87932	D	0	.	18.7502	0.91810	0.0:0.0:1.0:0.0	.	991	P51828	ADCY7_HUMAN	C	991	ENSP00000378187:G991C;ENSP00000254235:G991C	ENSP00000254235:G991C	G	+	1	0	ADCY7	48905818	1.000000	0.71417	0.964000	0.40570	0.237000	0.25408	9.578000	0.98200	2.664000	0.90586	0.655000	0.94253	GGC		PASS	0.607	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		Missense_Mutation	14	16	14	16	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50655581	50655581	+	Missense_Mutation	SNP	G	G	A	rs199950234		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:50655581G>A	ENST00000268459.3	+	5	552	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	110					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E110K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAGAGTGAGCGAACCCTGCCC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17981	0.0		0.0	False		,,,				2504	0.0					uc002egg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)GAA>AAA		naked cuticle homolog 1							112.0	94.0	100.0					16																	50655581		2196	4300	6496	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50655581G>A	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.328G>A	16.37:g.50655581G>A	ENSP00000268459:p.Glu110Lys						p.E110K	NM_033119	NP_149110	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	5	552	+		all_cancers(37;0.229)	110					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.328G>A	CCDS10743.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	1.321	-0.599521	0.03744	.	.	ENSG00000140807	ENST00000268459	T	0.63255	-0.03	4.98	4.98	0.66077	.	0.568936	0.19073	N	0.123450	T	0.56587	0.1995	L	0.56769	1.78	0.09310	N	0.999996	B	0.27351	0.176	B	0.19148	0.024	T	0.48525	-0.9028	10	0.08837	T	0.75	-1.1421	18.6061	0.91266	0.0:0.0:1.0:0.0	.	110	Q969G9	NKD1_HUMAN	K	110	ENSP00000268459:E110K	ENSP00000268459:E110K	E	+	1	0	NKD1	49213082	0.988000	0.35896	0.043000	0.18650	0.056000	0.15407	2.851000	0.48302	2.466000	0.83321	0.491000	0.48974	GAA		PASS	0.567	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			8	47	8	47	---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50821699	50821699	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:50821699C>A	ENST00000427738.3	+	13	2249	c.2044C>A	c.(2044-2046)Cct>Act	p.P682T	RP11-327F22.4_ENST00000575917.1_RNA|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.P679T|CYLD_ENST00000568704.2_Missense_Mutation_p.P497T|CYLD_ENST00000569418.1_Missense_Mutation_p.P679T|CYLD_ENST00000540145.1_Missense_Mutation_p.P682T|CYLD_ENST00000566206.1_Missense_Mutation_p.P679T|CYLD_ENST00000398568.2_Missense_Mutation_p.P679T|CYLD_ENST00000311559.9_Missense_Mutation_p.P682T			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	682	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.P682T(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TCTCCTAGATCCTGAGGAATT	0.254			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(2044-2046)CCT>ACT		ubiquitin carboxyl-terminal hydrolase CYLD							29.0	27.0	27.0					16																	50821699		1775	4030	5805	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50821699C>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2044C>A	16.37:g.50821699C>A	ENSP00000392025:p.Pro682Thr					CYLD_uc010cbs.1_Missense_Mutation_p.P679T|CYLD_uc002egq.1_Missense_Mutation_p.P679T|CYLD_uc002egr.1_Missense_Mutation_p.P679T	p.P682T	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			14	2459	+		all_cancers(37;0.0156)	682					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.2044C>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672671	0.88445	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.73897	-0.79;-0.79;-0.79	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86379	0.1728	10	0.59425	D	0.04	-17.3566	20.4375	0.99097	0.0:1.0:0.0:0.0	.	679;679	A8KAB0;Q9NQC7-2	.;.	T	682;682;679;679	ENSP00000445447:P682T;ENSP00000308928:P682T;ENSP00000381574:P679T	ENSP00000308928:P682T	P	+	1	0	CYLD	49379200	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.947000	0.75959	2.906000	0.99361	0.655000	0.94253	CCT		PASS	0.254	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			18	32	18	32	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175747	51175747	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:51175747G>T	ENST00000251020.4	-	2	419	c.386C>A	c.(385-387)gCc>gAc	p.A129D	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Missense_Mutation_p.A32D|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	129					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|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)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A129D(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCAACCGGGGCCTCCACCTC	0.582																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(385-387)GCC>GAC		sal-like 1 isoform a							74.0	77.0	76.0					16																	51175747		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175747G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.386C>A	16.37:g.51175747G>T	ENSP00000251020:p.Ala129Asp					SALL1_uc010vgr.1_Missense_Mutation_p.A32D|SALL1_uc010cbv.2_Intron	p.A129D	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	417	-		all_cancers(37;0.0322)	129					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.386C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510376	0.27036	.	.	ENSG00000103449	ENST00000251020;ENST00000440970	T;T	0.06768	3.31;3.26	5.21	4.24	0.50183	.	0.457457	0.25987	N	0.027026	T	0.06280	0.0162	L	0.34521	1.04	0.25833	N	0.98414	B	0.23735	0.09	B	0.19148	0.024	T	0.36720	-0.9736	10	0.16420	T	0.52	.	9.2867	0.37762	0.166:0.0:0.834:0.0	.	129	Q9NSC2	SALL1_HUMAN	D	129;32	ENSP00000251020:A129D;ENSP00000407914:A32D	ENSP00000251020:A129D	A	-	2	0	SALL1	49733248	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	4.339000	0.59322	1.149000	0.42402	0.555000	0.69702	GCC		PASS	0.582	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		54	58	54	58	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56933518	56933518	+	Missense_Mutation	SNP	C	C	G	rs371739823		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:56933518C>G	ENST00000563236.1	+	23	2735	c.2710C>G	c.(2710-2712)Cgg>Ggg	p.R904G	SLC12A3_ENST00000262502.5_Missense_Mutation_p.R903G|SLC12A3_ENST00000566786.1_Missense_Mutation_p.R912G|SLC12A3_ENST00000438926.2_Missense_Mutation_p.R913G			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	904			R -> Q (in dbSNP:rs11643718). {ECO:0000269|PubMed:10988270, ECO:0000269|PubMed:12112667, ECO:0000269|PubMed:17885550, ECO:0000269|PubMed:9734597}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.R913G(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCAGAACCCTCGGGCTGAGCA	0.547																																						uc010ccm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2710-2712)CGG>GGG		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						121.0	111.0	115.0					16																	56933518		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56933518C>G		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2710C>G	16.37:g.56933518C>G	ENSP00000456149:p.Arg904Gly					SLC12A3_uc002ekd.3_Missense_Mutation_p.R913G|SLC12A3_uc010ccn.2_Missense_Mutation_p.R912G	p.R904G	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			23	2739	+			904			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2710C>G	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451612	0.26074	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	4.9	3.92	0.45320	.	0.307617	0.36591	N	0.002511	T	0.44456	0.1294	L	0.55990	1.75	0.25592	N	0.986681	B;B;B	0.22851	0.076;0.025;0.043	B;B;B	0.26310	0.068;0.031;0.068	T	0.39272	-0.9622	9	0.42905	T	0.14	.	13.0338	0.58859	0.1625:0.8374:0.0:0.0	.	912;904;913	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	G	912;913	.	ENSP00000262502:R913G	R	+	1	2	SLC12A3	55491019	0.770000	0.28543	0.129000	0.21949	0.787000	0.44495	1.489000	0.35562	1.011000	0.39340	0.561000	0.74099	CGG		PASS	0.547	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			6	172	6	172	---	---	---	---
KIAA0895L	653319	broad.mit.edu	37	16	67214480	67214480	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:67214480G>C	ENST00000290881.7	-	3	960	c.34C>G	c.(34-36)Cag>Gag	p.Q12E	KIAA0895L_ENST00000561621.1_Missense_Mutation_p.Q12E|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.Q12E|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	12								p.Q12E(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGGGGTGCCTGATCATACGCC	0.642																																						uc002ert.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CAG>GAG		hypothetical protein LOC653319							24.0	29.0	27.0					16																	67214480		1864	3866	5730	SO:0001583	missense	653319							g.chr16:67214480G>C	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.34C>G	16.37:g.67214480G>C	ENSP00000290881:p.Gln12Glu					KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'Flank|KIAA0895L_uc002eru.2_Missense_Mutation_p.Q12E|EXOC3L_uc002erv.1_RNA	p.Q12E	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN			2	809	-			12					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.34C>G	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358518	0.24598	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.6	3.63	0.41609	.	0.531779	0.18948	N	0.126752	T	0.41971	0.1182	L	0.47716	1.5	0.28623	N	0.908041	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.45175	-0.9279	9	0.66056	D	0.02	-13.2312	12.8243	0.57710	0.0:0.1655:0.8345:0.0	.	12;12	Q68EN5-2;Q68EN5	.;K895L_HUMAN	E	12	.	ENSP00000290881:Q12E	Q	-	1	0	KIAA0895L	65771981	1.000000	0.71417	0.999000	0.59377	0.372000	0.29890	3.776000	0.55356	1.262000	0.44165	0.650000	0.86243	CAG		PASS	0.642	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		10	39	10	39	---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67264021	67264021	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:67264021C>G	ENST00000258201.4	-	20	3409	c.3162G>C	c.(3160-3162)aaG>aaC	p.K1054N		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1054	DAD.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.K1054N(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCAGCAGACTCTTCATACTAG	0.627																																						uc002esl.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(3160-3162)AAG>AAC		formin homology 2 domain containing 1							97.0	97.0	97.0					16																	67264021		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264021C>G	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3162G>C	16.37:g.67264021C>G	ENSP00000258201:p.Lys1054Asn					FHOD1_uc002esk.2_Missense_Mutation_p.K113N|FHOD1_uc010ced.2_Missense_Mutation_p.K861N	p.K1054N	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	20	3274	-		Ovarian(137;0.0563)	1054					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3162G>C	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149982	0.37923	.	.	ENSG00000135723	ENST00000258201	T	0.38560	1.13	5.03	1.84	0.25277	Actin-binding FH2/DRF autoregulatory (1);	0.169822	0.52532	D	0.000076	T	0.41971	0.1182	M	0.70595	2.14	0.54753	D	0.99998	B	0.32893	0.389	B	0.40602	0.334	T	0.18147	-1.0346	10	0.29301	T	0.29	.	6.6691	0.23058	0.0:0.6824:0.1479:0.1697	.	1054	Q9Y613	FHOD1_HUMAN	N	1054	ENSP00000258201:K1054N	ENSP00000258201:K1054N	K	-	3	2	FHOD1	65821522	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.112000	0.31172	0.829000	0.34733	0.561000	0.74099	AAG		PASS	0.627	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			36	198	36	198	---	---	---	---
PLEKHG4	25894	broad.mit.edu	37	16	67314196	67314196	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:67314196G>C	ENST00000360461.5	+	1	2784	c.249G>C	c.(247-249)caG>caC	p.Q83H	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.Q83H|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.Q83H|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.Q83H	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	83							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q83H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGGATGCCCAGAGGGGCACAG	0.627																																						uc002eso.3																			1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(247-249)CAG>CAC		pleckstrin homology domain containing, family G							46.0	47.0	46.0					16																	67314196		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67314196G>C	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.249G>C	16.37:g.67314196G>C	ENSP00000353646:p.Gln83His					PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Missense_Mutation_p.Q83H|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc010cef.2_Missense_Mutation_p.Q83H|PLEKHG4_uc002ess.3_Missense_Mutation_p.Q83H|PLEKHG4_uc010ceg.2_Missense_Mutation_p.Q83H	p.Q83H	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	1	2784	+			83					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.249G>C	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380587	0.24944	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733;ENST00000393966	T;T;T;T	0.13196	2.61;2.61;2.61;2.68	4.25	2.27	0.28462	.	.	.	.	.	T	0.21186	0.0510	M	0.62723	1.935	0.09310	N	1	D;B	0.54964	0.969;0.002	P;B	0.52909	0.713;0.003	T	0.08027	-1.0742	9	0.41790	T	0.15	.	5.9169	0.19059	0.1059:0.1952:0.6989:0.0	.	83;83	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	H	83	ENSP00000353646:Q83H;ENSP00000401118:Q83H;ENSP00000368649:Q83H;ENSP00000398030:Q83H	ENSP00000353646:Q83H	Q	+	3	2	PLEKHG4	65871697	0.005000	0.15991	0.025000	0.17156	0.005000	0.04900	1.397000	0.34543	0.555000	0.29079	-0.204000	0.12730	CAG		PASS	0.627	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		6	51	6	51	---	---	---	---
LRRC36	55282	broad.mit.edu	37	16	67409289	67409289	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:67409289C>G	ENST00000329956.6	+	10	1653	c.1634C>G	c.(1633-1635)tCc>tGc	p.S545C	LRRC36_ENST00000563189.1_Missense_Mutation_p.S424C|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000290940.7_Missense_Mutation_p.S277C|LRRC36_ENST00000541146.1_Missense_Mutation_p.P66A	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	545								p.S545C(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GGCTCCGGCTCCCTCCTCCTC	0.542																																						uc002esv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1633-1635)TCC>TGC		leucine rich repeat containing 36 isoform 1							130.0	136.0	134.0					16																	67409289		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67409289C>G	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1634C>G	16.37:g.67409289C>G	ENSP00000329943:p.Ser545Cys					LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Missense_Mutation_p.S424C|LRRC36_uc010vjk.1_Intron|LRRC36_uc010vjl.1_Missense_Mutation_p.P66A|LRRC36_uc002esy.2_Missense_Mutation_p.S55C	p.S545C	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	10	1653	+		Ovarian(137;0.192)	545					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1634C>G	CCDS32467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.67|18.67	3.673868|3.673868	0.67928|0.67928	.|.	.|.	ENSG00000159708|ENSG00000159708	ENST00000541146|ENST00000329956;ENST00000290940	T|T;T	0.51325|0.62941	0.71|1.56;-0.01	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.143357	.|0.48286	.|D	.|0.000181	T|T	0.78013|0.78013	0.4217|0.4217	M|M	0.71036|0.71036	2.16|2.16	0.26390|0.26390	N|N	0.976583|0.976583	B|D;D	0.34290|0.89917	0.447|1.0;1.0	B|D;D	0.31614|0.91635	0.133|0.999;0.997	T|T	0.72151|0.72151	-0.4377|-0.4377	9|10	0.51188|0.87932	T|D	0.08|0	-7.0699|-7.0699	15.0114|15.0114	0.71552|0.71552	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	66|424;545	B7Z4G3|Q1X8D7-2;Q1X8D7	.|.;LRC36_HUMAN	A|C	66|545;277	ENSP00000445861:P66A|ENSP00000329943:S545C;ENSP00000290940:S277C	ENSP00000445861:P66A|ENSP00000290940:S277C	P|S	+|+	1|2	0|0	LRRC36|LRRC36	65966790|65966790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.763000|0.763000	0.43281|0.43281	4.083000|4.083000	0.57643|0.57643	2.612000|2.612000	0.88384|0.88384	0.591000|0.591000	0.81541|0.81541	CCC|TCC		PASS	0.542	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		77	290	77	290	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67912273	67912273	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:67912273G>A	ENST00000358933.5	+	9	1254	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	339					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E339K(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTGTCTGCACGAGTGGAAACC	0.607																																						uc002eur.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1015-1017)GAG>AAG		autoantigen RCD8							88.0	90.0	89.0					16																	67912273		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67912273G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1015G>A	16.37:g.67912273G>A	ENSP00000351811:p.Glu339Lys					EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.E271K|EDC4_uc010ces.1_Missense_Mutation_p.E182K|EDC4_uc002eus.2_Missense_Mutation_p.E69K	p.E339K	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	9	1181	+		Ovarian(137;0.0563)	339					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.1015G>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748374	0.69533	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.39592	1.07	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.47716	1.5	0.80722	D	1	D;P	0.58970	0.984;0.778	B;B	0.43082	0.407;0.074	T	0.15037	-1.0451	10	0.22109	T	0.4	-22.4981	19.2127	0.93763	0.0:0.0:1.0:0.0	.	271;339	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	K	339;271	ENSP00000351811:E339K	ENSP00000351811:E339K	E	+	1	0	EDC4	66469774	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.019000	0.88732	2.654000	0.90174	0.561000	0.74099	GAG		PASS	0.607	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		5	166	5	166	---	---	---	---
SLC12A4	6560	broad.mit.edu	37	16	67980942	67980942	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:67980942G>C	ENST00000316341.3	-	17	2279	c.2139C>G	c.(2137-2139)acC>acG	p.T713T	SLC12A4_ENST00000541864.2_Silent_p.T682T|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Silent_p.T715T|SLC12A4_ENST00000576616.1_Silent_p.T713T|SLC12A4_ENST00000338335.3_Silent_p.T713T|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000537830.2_Silent_p.T707T|SLC12A4_ENST00000572037.1_Silent_p.T665T	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	713					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.T713T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGAGGCGAAGGTGAGGAGCC	0.657																																						uc002euz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2137-2139)ACC>ACG		solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)						33.0	30.0	31.0					16																	67980942		2197	4300	6497	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980942G>C		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2139C>G	16.37:g.67980942G>C						LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.T707T|SLC12A4_uc010vkh.1_Silent_p.T682T|SLC12A4_uc010vki.1_Silent_p.T713T|SLC12A4_uc010vkj.1_Silent_p.T715T|SLC12A4_uc002eva.2_Silent_p.T713T|SLC12A4_uc010cev.1_RNA|SLC12A4_uc002evb.2_RNA	p.T713T	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2280	-		Ovarian(137;0.192)	713					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.2139C>G	CCDS10855.1																																																																																				PASS	0.657	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		6	31	6	31	---	---	---	---
CIRH1A	84916	broad.mit.edu	37	16	69199280	69199280	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:69199280G>T	ENST00000314423.7	+	15	1861	c.1684G>T	c.(1684-1686)Gat>Tat	p.D562Y	CIRH1A_ENST00000352319.4_Missense_Mutation_p.D447Y|CIRH1A_ENST00000563094.1_Missense_Mutation_p.D562Y			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	562					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.D562H(1)|p.D562Y(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACAGTATACAGATTGGAGCCG	0.488																																					Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.3																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(1684-1686)GAT>TAT		cirhin							116.0	104.0	108.0					16																	69199280		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69199280G>T	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1684G>T	16.37:g.69199280G>T	ENSP00000327179:p.Asp562Tyr					CIRH1A_uc002ewr.2_Missense_Mutation_p.D562Y|CIRH1A_uc002ewt.3_Missense_Mutation_p.D479Y|CIRH1A_uc010cfi.2_Missense_Mutation_p.D364Y	p.D562Y	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	15	1780	+			562			WD 11.		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1684G>T	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156261	0.57259	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.29397	1.57;2.35	6.17	5.22	0.72569	Quinonprotein alcohol dehydrogenase-like (1);	0.317497	0.36815	N	0.002396	T	0.29028	0.0721	L	0.29908	0.895	0.36329	D	0.858729	B;B	0.32425	0.371;0.25	B;B	0.37047	0.112;0.24	T	0.36744	-0.9735	10	0.66056	D	0.02	.	15.6128	0.76740	0.0:0.2598:0.7402:0.0	.	562;562	Q969X6;Q969X6-3	CIR1A_HUMAN;.	Y	562;447	ENSP00000327179:D562Y;ENSP00000339164:D447Y	ENSP00000327179:D562Y	D	+	1	0	CIRH1A	67756781	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.684000	0.54671	1.623000	0.50342	0.655000	0.94253	GAT		PASS	0.488	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		16	86	16	86	---	---	---	---
IST1	9798	broad.mit.edu	37	16	71956497	71956497	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:71956497G>C	ENST00000378799.6	+	7	1029	c.673G>C	c.(673-675)Gat>Cat	p.D225H	IST1_ENST00000541571.2_Missense_Mutation_p.D225H|IST1_ENST00000329908.8_Missense_Mutation_p.D225H|IST1_ENST00000606369.1_Missense_Mutation_p.D77H|IST1_ENST00000378798.5_Missense_Mutation_p.D225H|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000535424.1_Missense_Mutation_p.D238H|IST1_ENST00000544564.1_Missense_Mutation_p.D225H|IST1_ENST00000538850.1_Missense_Mutation_p.D77H|RP11-498D10.5_ENST00000567146.1_RNA			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	225	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.D225H(1)									TGGTGGACCTGATGGAACGGt	0.493																																						uc002fbj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(712-714)GAT>CAT		SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725;							124.0	101.0	109.0					16																	71956497		2198	4300	6498	SO:0001583	missense	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71956497G>C	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.673G>C	16.37:g.71956497G>C	ENSP00000368076:p.Asp225His					KIAA0174_uc010cgh.1_Missense_Mutation_p.D238H|KIAA0174_uc002fbk.1_Missense_Mutation_p.D225H|KIAA0174_uc002fbm.1_Missense_Mutation_p.D225H|KIAA0174_uc002fbl.1_Missense_Mutation_p.D225H|KIAA0174_uc002fbn.1_Missense_Mutation_p.D77H|KIAA0174_uc010cgi.1_5'UTR|KIAA0174_uc010cgj.1_Missense_Mutation_p.D157H|KIAA0174_uc010vml.1_RNA|KIAA0174_uc010vmk.1_Missense_Mutation_p.D77H	p.D238H			P53990	IST1_HUMAN			9	995	+			225			Interaction with VPS37B.|Interaction with VTA1.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	c.712G>C	CCDS59272.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793262	0.50102	.	.	ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000538963;ENST00000329908;ENST00000538850;ENST00000378798;ENST00000456820	.	.	.	5.54	5.54	0.83059	.	0.242826	0.43919	D	0.000509	T	0.50803	0.1637	N	0.22421	0.69	0.38123	D	0.937911	D;B;B;D	0.63046	0.992;0.226;0.115;0.992	P;B;B;P	0.54401	0.751;0.172;0.223;0.751	T	0.45877	-0.9231	9	0.18276	T	0.48	-6.0459	16.6384	0.85065	0.0:0.0:1.0:0.0	.	225;225;225;238	P53990;P53990-2;P53990-3;A8KAH5	IST1_HUMAN;.;.;.	H	238;225;214;225;77;225;163	.	ENSP00000330408:D225H	D	+	1	0	KIAA0174	70513998	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.168000	0.71908	2.611000	0.88343	0.655000	0.94253	GAT		PASS	0.493	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		3	135	3	135	---	---	---	---
CHST6	4166	broad.mit.edu	37	16	75512624	75512624	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:75512624C>G	ENST00000332272.4	-	3	1282	c.1103G>C	c.(1102-1104)cGc>cCc	p.R368P	CHST6_ENST00000390664.2_Missense_Mutation_p.R368P|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	368					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)	p.R368P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGCGAGGTTGCGCTGCTCGTC	0.637																																						uc002fef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)CGC>CCC		carbohydrate (N-acetylglucosamine 6-O)							59.0	56.0	57.0					16																	75512624		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512624C>G	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.1103G>C	16.37:g.75512624C>G	ENSP00000328983:p.Arg368Pro					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R368P	p.R368P	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	1283	-			368			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.1103G>C	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783020	0.31593	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.96830	-4.14;-4.14	4.8	2.44	0.29823	.	0.128309	0.49305	D	0.000143	D	0.95414	0.8511	M	0.70275	2.135	0.35331	D	0.7856	P	0.37663	0.604	P	0.45449	0.481	D	0.95508	0.8583	10	0.54805	T	0.06	.	7.1778	0.25755	0.0:0.6866:0.0:0.3134	.	368	Q9GZX3	CHST6_HUMAN	P	368	ENSP00000328983:R368P;ENSP00000375079:R368P	ENSP00000328983:R368P	R	-	2	0	CHST6	74070125	0.334000	0.24739	0.985000	0.45067	0.128000	0.20619	0.474000	0.22148	1.024000	0.39682	-0.216000	0.12614	CGC		PASS	0.637	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		54	53	54	53	---	---	---	---
ADAT1	23536	broad.mit.edu	37	16	75642805	75642805	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:75642805C>G	ENST00000307921.3	-	8	1270	c.1125G>C	c.(1123-1125)caG>caC	p.Q375H	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	375	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.Q375H(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CACTGCGGCTCTGTTCAAATA	0.463																																						uc002feo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1123-1125)CAG>CAC		adenosine deaminase, tRNA-specific 1							81.0	75.0	77.0					16																	75642805		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75642805C>G	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1125G>C	16.37:g.75642805C>G	ENSP00000310015:p.Gln375His					ADAT1_uc002fep.1_Missense_Mutation_p.Q226H	p.Q375H	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN			8	1227	-			375			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.1125G>C	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	C	3.994	-0.003946	0.07773	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.93547	-3.24	6.03	-1.38	0.09027	Adenosine deaminase/editase (3);	0.546253	0.19573	N	0.111055	T	0.76652	0.4017	N	0.03050	-0.425	0.29656	N	0.843614	B	0.02656	0.0	B	0.04013	0.001	T	0.67906	-0.5549	10	0.10111	T	0.7	-0.3986	6.0453	0.19755	0.2484:0.2162:0.4658:0.0696	.	375	Q9BUB4	ADAT1_HUMAN	H	375;346	ENSP00000310015:Q375H	ENSP00000310015:Q375H	Q	-	3	2	ADAT1	74200306	0.279000	0.24239	0.999000	0.59377	0.781000	0.44180	-0.742000	0.04850	0.132000	0.18615	-0.310000	0.09108	CAG		PASS	0.463	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		22	97	22	97	---	---	---	---
ADAT1	23536	broad.mit.edu	37	16	75642880	75642880	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:75642880C>G	ENST00000307921.3	-	8	1195	c.1050G>C	c.(1048-1050)caG>caC	p.Q350H	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	350	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.Q350H(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CAGACACATTCTGACACCTAA	0.428																																						uc002feo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1048-1050)CAG>CAC		adenosine deaminase, tRNA-specific 1							75.0	71.0	73.0					16																	75642880		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75642880C>G	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1050G>C	16.37:g.75642880C>G	ENSP00000310015:p.Gln350His					ADAT1_uc002fep.1_Missense_Mutation_p.Q201H	p.Q350H	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN			8	1152	-			350			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.1050G>C	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	C	8.465	0.856204	0.17106	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.93604	-3.25	5.8	2.68	0.31781	Adenosine deaminase/editase (3);	1.063210	0.07166	N	0.851484	D	0.90521	0.7030	L	0.41961	1.31	0.22996	N	0.998458	B	0.09022	0.002	B	0.10450	0.005	T	0.78513	-0.2175	10	0.42905	T	0.14	-17.9272	11.2129	0.48808	0.1345:0.4751:0.3904:0.0	.	350	Q9BUB4	ADAT1_HUMAN	H	350;321	ENSP00000310015:Q350H	ENSP00000310015:Q350H	Q	-	3	2	ADAT1	74200381	0.974000	0.33945	0.567000	0.28434	0.807000	0.45602	0.276000	0.18716	0.335000	0.23614	0.650000	0.86243	CAG		PASS	0.428	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		22	94	22	94	---	---	---	---
TLDC1	57707	broad.mit.edu	37	16	84514298	84514298	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:84514298T>C	ENST00000343629.6	-	7	1276	c.1094A>G	c.(1093-1095)cAc>cGc	p.H365R	TLDC1_ENST00000535580.1_Missense_Mutation_p.H338R	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	365	TLD.					lysosomal membrane (GO:0005765)		p.H365R(1)									AAAGTAATTGTGCTGCCCCCC	0.557																																						uc002fib.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1093-1095)CAC>CGC		hypothetical protein LOC57707							75.0	67.0	70.0					16																	84514298		2200	4300	6500	SO:0001583	missense	57707						protein binding	g.chr16:84514298T>C	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1094A>G	16.37:g.84514298T>C	ENSP00000343635:p.His365Arg					KIAA1609_uc010vod.1_Missense_Mutation_p.H338R|KIAA1609_uc002fic.2_RNA	p.H365R	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN			7	1201	-			365			TLD.		Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.1094A>G	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.251731	0.39797	.	.	ENSG00000140950	ENST00000343629;ENST00000545792;ENST00000535580	T;T	0.41758	0.99;0.99	4.94	3.73	0.42828	TLDc (2);	0.096884	0.64402	D	0.000001	T	0.56834	0.2012	M	0.68952	2.095	0.52501	D	0.999953	D;D	0.76494	0.999;0.997	D;D	0.71656	0.974;0.926	T	0.53844	-0.8381	10	0.25106	T	0.35	-35.0557	11.3015	0.49309	0.146:0.0:0.0:0.854	.	338;365	F5GWS3;Q6P9B6	.;K1609_HUMAN	R	365;33;338	ENSP00000343635:H365R;ENSP00000441997:H338R	ENSP00000343635:H365R	H	-	2	0	KIAA1609	83071799	1.000000	0.71417	0.855000	0.33649	0.106000	0.19336	4.682000	0.61671	1.863000	0.54032	0.460000	0.39030	CAC		PASS	0.557	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		24	56	24	56	---	---	---	---
CBFA2T3	863	broad.mit.edu	37	16	88945803	88945803	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:88945803C>G	ENST00000268679.4	-	11	1933	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E427Q|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E475Q|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E427Q|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E437Q	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	513					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E513Q(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCTTTGCGCTCCGCGTCCGAC	0.662			T	RUNX1	AML																																	uc002fmm.1				Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)	4						c.(1537-1539)GAG>CAG		myeloid translocation gene on chromosome 16							81.0	68.0	72.0					16																	88945803		2198	4299	6497	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88945803C>G	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1537G>C	16.37:g.88945803C>G	ENSP00000268679:p.Glu513Gln					CBFA2T3_uc002fml.1_Missense_Mutation_p.E427Q|CBFA2T3_uc002fmk.1_Missense_Mutation_p.E12Q	p.E513Q	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	11	1723	-			513			Potential.		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1537G>C	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547031	0.65198	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	4.7	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.98;0.991	T	0.78971	-0.1993	10	0.87932	D	0	-29.7683	14.053	0.64749	0.1523:0.8477:0.0:0.0	.	513;427	O75081;O75081-2	MTG16_HUMAN;.	Q	427;513;475;437;427	ENSP00000332122:E427Q;ENSP00000268679:E513Q;ENSP00000395739:E475Q;ENSP00000401254:E437Q;ENSP00000353449:E427Q	ENSP00000268679:E513Q	E	-	1	0	CBFA2T3	87473304	1.000000	0.71417	0.541000	0.28102	0.142000	0.21351	7.536000	0.82023	0.938000	0.37419	0.462000	0.41574	GAG		PASS	0.662	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		7	51	7	51	---	---	---	---
ZNF778	197320	broad.mit.edu	37	16	89293455	89293455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr16:89293455G>A	ENST00000433976.2	+	6	1007	c.675G>A	c.(673-675)tgG>tgA	p.W225*	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Nonsense_Mutation_p.W183*	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	225					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.W225*(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AAGAAACATGGAAATGGAAGC	0.522																																						uc002fmv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(673-675)TGG>TGA		zinc finger protein 778							140.0	140.0	140.0					16																	89293455		2042	4189	6231	SO:0001587	stop_gained	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89293455G>A	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.675G>A	16.37:g.89293455G>A	ENSP00000405289:p.Trp225*					ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Nonsense_Mutation_p.W183*|ZNF778_uc010vpg.1_5'UTR	p.W225*	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	1014	+			225					Q08AG0	Nonsense_Mutation	SNP	ENST00000433976.2	37	c.675G>A	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540948	0.65085	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	.	.	.	1.21	-0.106	0.13596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	2.3295	0.04232	0.0:0.2172:0.3287:0.4541	.	.	.	.	X	225;183	.	ENSP00000305203:W183X	W	+	3	0	ZNF778	87820956	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.143000	0.10296	-0.023000	0.13963	-0.745000	0.03516	TGG		PASS	0.522	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		37	221	37	221	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1554484	1554484	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:1554484C>G	ENST00000572621.1	-	41	7036	c.6771G>C	c.(6769-6771)gaG>gaC	p.E2257D	PRPF8_ENST00000575116.1_5'Flank|RILP_ENST00000301336.6_5'Flank|PRPF8_ENST00000304992.6_Missense_Mutation_p.E2257D			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2257					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.E2257D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCTGCACCCTCTCATAGTGTG	0.582																																						uc002fte.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)	6						c.(6769-6771)GAG>GAC		U5 snRNP-specific protein							67.0	56.0	60.0					17																	1554484		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1554484C>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6771G>C	17.37:g.1554484C>G	ENSP00000460348:p.Glu2257Asp					RILP_uc002ftd.2_5'Flank	p.E2257D	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	42	6885	-			2257					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.6771G>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880605	0.17467	.	.	ENSG00000174231	ENST00000304992	D	0.94862	-3.54	5.47	2.4	0.29515	PRO, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92535	0.7629	M	0.75884	2.315	0.58432	D	0.999999	B	0.06786	0.001	B	0.12837	0.008	D	0.87234	0.2262	10	0.44086	T	0.13	.	10.0377	0.42139	0.0:0.7803:0.0:0.2197	.	2257	Q6P2Q9	PRP8_HUMAN	D	2257	ENSP00000304350:E2257D	ENSP00000304350:E2257D	E	-	3	2	PRPF8	1501234	1.000000	0.71417	0.995000	0.50966	0.147000	0.21601	1.113000	0.31184	0.277000	0.22141	-0.140000	0.14226	GAG		PASS	0.582	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			6	47	6	47	---	---	---	---
CLUH	23277	broad.mit.edu	37	17	2604712	2604712	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:2604712C>T	ENST00000570628.2	-	6	838	c.733G>A	c.(733-735)Gag>Aag	p.E245K	CLUH_ENST00000435359.1_Missense_Mutation_p.E245K|CLUH_ENST00000538975.1_Missense_Mutation_p.E245K			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	245					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.E245K(2)									TGCCGGTCCTCGGCTGTGATC	0.622																																						uc002fuy.1																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(733-735)GAG>AAG		hypothetical protein LOC23277							27.0	34.0	32.0					17																	2604712		2123	4229	6352	SO:0001583	missense	23277						binding	g.chr17:2604712C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.733G>A	17.37:g.2604712C>T	ENSP00000458986:p.Glu245Lys					KIAA0664_uc002fux.1_Missense_Mutation_p.E177K	p.E245K	NM_015229	NP_056044	O75153	K0664_HUMAN			6	819	-			245					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.733G>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143045	0.77888	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.90844	-2.74;-2.74	4.65	2.68	0.31781	GSKIP/TIF31 domain (1);	0.098519	0.64402	N	0.000001	D	0.95526	0.8546	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94512	0.7719	10	0.87932	D	0	.	8.9294	0.35661	0.0:0.7682:0.1504:0.0814	.	245;245	O75153;C9J6D7	K0664_HUMAN;.	K	245	ENSP00000388872:E245K;ENSP00000439628:E245K	ENSP00000320468:E245K	E	-	1	0	KIAA0664	2551462	1.000000	0.71417	0.806000	0.32338	0.602000	0.36980	5.905000	0.69893	0.594000	0.29761	-0.127000	0.14921	GAG		PASS	0.622	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		6	9	6	9	---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3665221	3665221	+	Missense_Mutation	SNP	G	G	T	rs112400595		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:3665221G>T	ENST00000263087.4	-	4	401	c.303C>A	c.(301-303)caC>caA	p.H101Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	101					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.H101Q(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAACACCGTGGTGGCTCCGGA	0.612																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|breast(1)|pancreas(1)	4						c.(301-303)CAC>CAA		integrin, alpha E precursor							85.0	56.0	66.0					17																	3665221		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3665221G>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.303C>A	17.37:g.3665221G>T	ENSP00000263087:p.His101Gln						p.H101Q	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	4	402	-			101			FG-GAP 2.|Extracellular (Potential).		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.303C>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	G	9.337	1.061913	0.19987	.	.	ENSG00000083457	ENST00000263087	D	0.95447	-3.71	3.61	0.171	0.15026	.	.	.	.	.	D	0.93844	0.8031	L	0.47190	1.495	0.23975	N	0.996291	D	0.67145	0.996	P	0.53649	0.731	D	0.86448	0.1771	9	0.12766	T	0.61	.	11.1793	0.48618	0.0:0.5661:0.4339:0.0	.	101	P38570	ITAE_HUMAN	Q	101	ENSP00000263087:H101Q	ENSP00000263087:H101Q	H	-	3	2	ITGAE	3611970	0.931000	0.31567	0.524000	0.27887	0.039000	0.13416	-0.109000	0.10840	0.095000	0.17434	0.511000	0.50034	CAC		PASS	0.612	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		17	38	17	38	---	---	---	---
ANKFY1	51479	broad.mit.edu	37	17	4085544	4085544	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:4085544C>G	ENST00000341657.4	-	15	2088	c.2053G>C	c.(2053-2055)Gat>Cat	p.D685H	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000570535.1_Missense_Mutation_p.D727H|ANKFY1_ENST00000574367.1_Missense_Mutation_p.D686H	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	685	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.D686H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCCTTCTCATCTGGCACAGAC	0.562																																						uc002fxq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2053-2055)GAT>CAT		ankyrin repeat and FYVE domain containing 1							133.0	133.0	133.0					17																	4085544		2010	4164	6174	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4085544C>G	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2053G>C	17.37:g.4085544C>G	ENSP00000343362:p.Asp685His					ANKFY1_uc002fxn.2_Missense_Mutation_p.D727H|ANKFY1_uc002fxo.2_Missense_Mutation_p.D686H|ANKFY1_uc002fxp.2_Missense_Mutation_p.D684H|ANKFY1_uc010ckp.2_Missense_Mutation_p.D627H	p.D685H	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN			15	2091	-			685					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.2053G>C		.	.	.	.	.	.	.	.	.	.	C	23.4	4.409247	0.83340	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.61	5.61	0.85477	Ankyrin repeat-containing domain (3);	0.111045	0.64402	D	0.000009	D	0.84781	0.5548	M	0.90252	3.1	0.80722	D	1	D;D;D;D	0.71674	0.993;0.994;0.993;0.998	P;D;P;P	0.65323	0.835;0.934;0.891;0.891	D	0.87673	0.2542	9	0.87932	D	0	-24.2861	18.6192	0.91315	0.0:1.0:0.0:0.0	.	627;685;686;727	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	H	686;627	.	ENSP00000343362:D686H	D	-	1	0	ANKFY1	4032293	0.999000	0.42202	0.998000	0.56505	0.981000	0.71138	3.986000	0.56937	2.641000	0.89580	0.650000	0.86243	GAT		PASS	0.562	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		49	200	49	200	---	---	---	---
VMO1	284013	broad.mit.edu	37	17	4689561	4689561	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:4689561C>G	ENST00000328739.5	-	1	166	c.87G>C	c.(85-87)cgG>cgC	p.R29R	GLTPD2_ENST00000331264.7_5'Flank|VMO1_ENST00000354194.4_Silent_p.R29R|VMO1_ENST00000416307.2_Silent_p.R29R|VMO1_ENST00000441199.2_Silent_p.R29R	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	29						extracellular vesicular exosome (GO:0070062)		p.R29R(1)		kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						TGTAGCCGTTCCGGCCATCTG	0.647																																						uc002fyx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(85-87)CGG>CGC		vitelline membrane outer layer 1 isoform 1							29.0	32.0	31.0					17																	4689561		2203	4299	6502	SO:0001819	synonymous_variant	284013				vitelline membrane formation	extracellular region		g.chr17:4689561C>G	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.87G>C	17.37:g.4689561C>G						VMO1_uc010vsh.1_Silent_p.R29R|VMO1_uc010vsi.1_Silent_p.R29R|VMO1_uc002fyy.2_Silent_p.R29R|GLTPD2_uc002fza.1_5'Flank	p.R29R	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN			1	169	-			29					C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Silent	SNP	ENST00000328739.5	37	c.87G>C	CCDS11055.1																																																																																				PASS	0.647	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		7	44	7	44	---	---	---	---
SPEM1	374768	broad.mit.edu	37	17	7324338	7324338	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:7324338G>A	ENST00000323675.3	+	3	369	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	115					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R64Q(1)|p.R115Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CATCGCCGTCGAGGCTCTCCC	0.607																																						uc002ggv.2																			2	Substitution - Missense(2)		lung(2)		0						c.(343-345)CGA>CAA		spermatid maturation 1							69.0	75.0	73.0					17																	7324338		2146	4243	6389	SO:0001583	missense	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7324338G>A	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.344G>A	17.37:g.7324338G>A	ENSP00000315554:p.Arg115Gln					FGF11_uc010vtw.1_Intron	p.R115Q	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN			3	369	+		Prostate(122;0.173)	115						Missense_Mutation	SNP	ENST00000323675.3	37	c.344G>A	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443152	0.43326	.	.	ENSG00000181323	ENST00000323383;ENST00000323675	.	.	.	4.7	2.61	0.31194	.	0.208498	0.24136	N	0.041206	T	0.22085	0.0532	L	0.36672	1.1	0.09310	N	1	P	0.36874	0.572	B	0.30572	0.117	T	0.15780	-1.0425	9	0.56958	D	0.05	-3.8168	5.5797	0.17243	0.11:0.2208:0.6691:0.0	.	115	Q8N4L4	SPEM1_HUMAN	Q	64;115	.	ENSP00000315511:R64Q	R	+	2	0	SPEM1	7265062	0.000000	0.05858	0.008000	0.14137	0.152000	0.21847	0.161000	0.16481	1.201000	0.43203	0.655000	0.94253	CGA		PASS	0.607	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		14	57	14	57	---	---	---	---
EIF4A1	1973	broad.mit.edu	37	17	7481183	7481183	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:7481183G>C	ENST00000293831.8	+	9	961	c.945G>C	c.(943-945)atG>atC	p.M315I	CD68_ENST00000380498.6_5'Flank|SNORA67_ENST00000384423.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.M315I|EIF4A1_ENST00000581808.1_3'UTR|SNORD10_ENST00000459579.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.M315I|CD68_ENST00000250092.6_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	315	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.M315I(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ACGTGATTATGAGGGAGTTTC	0.498																																					Melanoma(120;278 1668 15796 27423 46368)	uc002gho.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(943-945)ATG>ATC		eukaryotic translation initiation factor 4A							88.0	76.0	80.0					17																	7481183		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481183G>C	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.945G>C	17.37:g.7481183G>C	ENSP00000293831:p.Met315Ile					EIF4A1_uc002ghr.1_Missense_Mutation_p.M315I|EIF4A1_uc002ghq.1_Missense_Mutation_p.M315I|EIF4A1_uc002ghp.1_Missense_Mutation_p.M315I|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	p.M315I	NM_001416	NP_001407	P60842	IF4A1_HUMAN			17	2270	+			315			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.945G>C	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356962	0.41801	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.73363	-0.74	5.35	5.35	0.76521	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	N	0.22421	0.69	0.80722	D	1	B;B;B	0.28667	0.167;0.021;0.219	B;B;B	0.29942	0.08;0.045;0.109	T	0.66775	-0.5838	10	0.87932	D	0	-18.4288	16.5647	0.84576	0.0:0.0:1.0:0.0	.	315;315;315	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	I	315;178	ENSP00000293831:M315I	ENSP00000293831:M315I	M	+	3	0	EIF4A1	7421907	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.441000	0.97557	2.515000	0.84797	0.561000	0.74099	ATG		PASS	0.498	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		4	98	4	98	---	---	---	---
EIF4A1	1973	broad.mit.edu	37	17	7481745	7481745	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:7481745G>C	ENST00000293831.8	+	11	1178	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	CD68_ENST00000380498.6_5'Flank|SNORA67_ENST00000384423.1_RNA|EIF4A1_ENST00000577269.1_3'UTR|SNORD10_ENST00000459579.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_3'UTR|CD68_ENST00000250092.6_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	388	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E388Q(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TCGAGACATTGAGACCTTCTA	0.522																																					Melanoma(120;278 1668 15796 27423 46368)	uc002gho.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1162-1164)GAG>CAG		eukaryotic translation initiation factor 4A							108.0	99.0	102.0					17																	7481745		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481745G>C	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1162G>C	17.37:g.7481745G>C	ENSP00000293831:p.Glu388Gln					EIF4A1_uc002ghr.1_3'UTR|EIF4A1_uc002ghq.1_3'UTR|EIF4A1_uc002ghp.1_Missense_Mutation_p.E388Q|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	p.E388Q	NM_001416	NP_001407	P60842	IF4A1_HUMAN			19	2487	+			388			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.1162G>C	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359125	0.41801	.	.	ENSG00000161960	ENST00000293831	T	0.28069	1.63	4.97	4.97	0.65823	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	L	0.41710	1.295	0.80722	D	1	P	0.40197	0.706	B	0.41374	0.355	T	0.03325	-1.1048	10	0.36615	T	0.2	-8.8201	16.082	0.81012	0.0:0.0:1.0:0.0	.	388	P60842	IF4A1_HUMAN	Q	388	ENSP00000293831:E388Q	ENSP00000293831:E388Q	E	+	1	0	EIF4A1	7422469	1.000000	0.71417	0.952000	0.39060	0.910000	0.53928	9.386000	0.97228	2.461000	0.83175	0.563000	0.77884	GAG		PASS	0.522	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		4	128	4	128	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7498076	7498076	+	Splice_Site	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:7498076C>G	ENST00000250113.7	-	9	1166		c.e9-1		FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2							cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCTCGGGAGTCTAAAGGAAGA	0.537																																						uc002gia.1																			1	Unknown(1)		lung(1)		0						c.e9-1		fragile X mental retardation syndrome related							89.0	87.0	88.0					17																	7498076		1879	4118	5997	SO:0001630	splice_region_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7498076C>G	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.832-1G>C	17.37:g.7498076C>G						FXR2_uc010vud.1_Splice_Site_p.T278_splice	p.T278_splice	NM_004860	NP_004851	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	9	1059	-								B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Splice_Site	SNP	ENST00000250113.7	37	c.832_splice	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652828	0.88056	.	.	ENSG00000129245	ENST00000250113	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0996	0.72262	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FXR2	7438801	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	7.183000	0.77697	2.716000	0.92895	0.561000	0.74099	.		PASS	0.537	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1		Intron	12	76	12	76	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7695336	7695336	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:7695336G>C	ENST00000572933.1	+	45	8462	c.7002G>C	c.(7000-7002)cgG>cgC	p.R2334R	DNAH2_ENST00000389173.2_Silent_p.R2334R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2334					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2334R(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGAGGGCCGGAAGAGGATCG	0.547																																						uc002giu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(7000-7002)CGG>CGC		dynein heavy chain domain 3							166.0	142.0	150.0					17																	7695336		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7695336G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7002G>C	17.37:g.7695336G>C							p.R2334R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			44	7016	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2334					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.7002G>C	CCDS32551.1																																																																																				PASS	0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		31	158	31	158	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7751800	7751800	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:7751800C>G	ENST00000448097.2	+	11	2525	c.2194C>G	c.(2194-2196)Ctg>Gtg	p.L732V	KDM6B_ENST00000254846.5_Missense_Mutation_p.L732V			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	732	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.L732V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTTTGCATCTCTGCAGTCTCC	0.617																																						uc002giw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(2194-2196)CTG>GTG		lysine (K)-specific demethylase 6B							66.0	80.0	76.0					17																	7751800		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751800C>G	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2194C>G	17.37:g.7751800C>G	ENSP00000412513:p.Leu732Val					KDM6B_uc002gix.2_Missense_Mutation_p.L34V	p.L732V	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			11	2570	+			732			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2194C>G		.	.	.	.	.	.	.	.	.	.	C	6.146	0.395157	0.11638	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.13901	2.55;2.55	4.67	2.66	0.31614	.	0.662135	0.13548	N	0.379656	T	0.11965	0.0291	N	0.14661	0.345	0.23519	N	0.997501	P;D	0.61697	0.9;0.99	B;P	0.53062	0.211;0.717	T	0.22068	-1.0227	10	0.19590	T	0.45	-10.1304	8.7082	0.34367	0.1508:0.7676:0.0:0.0816	.	732;732	O15054;O15054-1	KDM6B_HUMAN;.	V	732	ENSP00000254846:L732V;ENSP00000412513:L732V	ENSP00000254846:L732V	L	+	1	2	KDM6B	7692525	0.894000	0.30519	0.782000	0.31804	0.709000	0.40893	1.422000	0.34826	0.695000	0.31675	0.491000	0.48974	CTG		PASS	0.617	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		26	74	26	74	---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9830003	9830003	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:9830003G>A	ENST00000432992.2	-	10	1129	c.969C>T	c.(967-969)gcC>gcT	p.A323A	GAS7_ENST00000437099.2_Silent_p.A259A|GAS7_ENST00000585266.1_Silent_p.A263A|GAS7_ENST00000542249.1_Silent_p.A259A|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000579158.1_Silent_p.A259A|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Silent_p.A263A|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Silent_p.A183A	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	323					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A323A(1)|p.A183A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGCGAAGGTCGGCAATGTGGT	0.592			T	MLL	AML*																																	uc002gmg.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		2	Substitution - coding silent(2)		lung(2)	lung(1)|pancreas(1)	2						c.(967-969)GCC>GCT		growth arrest-specific 7 isoform c							78.0	73.0	75.0					17																	9830003		2203	4300	6503	SO:0001819	synonymous_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9830003G>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.969C>T	17.37:g.9830003G>A						GAS7_uc010vvc.1_Silent_p.A137A|GAS7_uc002gmh.1_Silent_p.A183A|GAS7_uc010vvd.1_Silent_p.A275A|GAS7_uc002gmi.2_Silent_p.A259A|GAS7_uc002gmj.1_Silent_p.A263A|GAS7_uc010coh.1_Silent_p.A263A	p.A323A	NM_201433	NP_958839	O60861	GAS7_HUMAN			10	1130	-			323			Potential.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	c.969C>T	CCDS11152.1																																																																																				PASS	0.592	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		12	79	12	79	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10231375	10231375	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:10231375C>G	ENST00000418404.3	-	21	2662	c.2499G>C	c.(2497-2499)tgG>tgC	p.W833C	MYH13_ENST00000252172.4_Missense_Mutation_p.W833C|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	833					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.W833C(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGGTTCATCCAGGGCCAGT	0.483											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gmk.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2497-2499)TGG>TGC		myosin, heavy polypeptide 13, skeletal muscle							93.0	91.0	91.0					17																	10231375		2197	4300	6497	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10231375C>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2499G>C	17.37:g.10231375C>G	ENSP00000404570:p.Trp833Cys		OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663		p.W833C	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			22	2589	-			833					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2499G>C	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013516	0.75161	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.93547	-3.24	4.01	4.01	0.46588	.	.	.	.	.	D	0.98229	0.9414	H	0.99238	4.48	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.99787	1.1030	9	0.87932	D	0	.	16.6941	0.85330	0.0:1.0:0.0:0.0	.	833	Q9UKX3	MYH13_HUMAN	C	833;508	ENSP00000252172:W833C	ENSP00000252172:W833C	W	-	3	0	MYH13	10172100	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.235000	0.73313	0.563000	0.77884	TGG		PASS	0.483	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		28	58	28	58	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10417367	10417367	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:10417367C>A	ENST00000226207.5	-	7	702	c.608G>T	c.(607-609)gGg>gTg	p.G203V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	203	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G203V(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTTCTCCCCAGTAACTGC	0.473																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(607-609)GGG>GTG		myosin, heavy chain 1, skeletal muscle, adult							118.0	105.0	109.0					17																	10417367		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10417367C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.608G>T	17.37:g.10417367C>A	ENSP00000226207:p.Gly203Val					uc002gml.1_Intron	p.G203V	NM_005963	NP_005954	P12882	MYH1_HUMAN			7	702	-			203			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.608G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427153	0.62733	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.87256	-2.23	5.36	5.36	0.76844	Myosin head, motor domain (2);	0.000000	0.43416	U	0.000574	D	0.92404	0.7589	M	0.87617	2.895	0.80722	D	1	B	0.27416	0.178	B	0.41917	0.37	D	0.91639	0.5325	10	0.72032	D	0.01	.	19.4611	0.94918	0.0:1.0:0.0:0.0	.	203	P12882	MYH1_HUMAN	V	203	ENSP00000226207:G203V	ENSP00000226207:G203V	G	-	2	0	MYH1	10358092	0.989000	0.36119	1.000000	0.80357	0.963000	0.63663	3.994000	0.56994	2.657000	0.90304	0.655000	0.94253	GGG		PASS	0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		50	76	50	76	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12666889	12666889	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:12666889C>G	ENST00000343344.4	+	13	2745	c.2745C>G	c.(2743-2745)ttC>ttG	p.F915L	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.F963L			Q8IZQ8	MYCD_HUMAN	myocardin	915					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.F963L(1)|p.F915L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCAGCATCTTCAACATCGATT	0.517																																						uc002gnn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2743-2745)TTC>TTG		myocardin isoform 2							58.0	54.0	55.0					17																	12666889		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666889C>G	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2745C>G	17.37:g.12666889C>G	ENSP00000341835:p.Phe915Leu					MYOCD_uc002gno.2_Missense_Mutation_p.F963L|MYOCD_uc002gnq.2_Missense_Mutation_p.F639L	p.F915L	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	3044	+			915					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2745C>G	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082484	0.76528	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.60171	0.25;0.21	6.08	-1.04	0.10068	.	0.100634	0.64402	D	0.000002	T	0.72622	0.3483	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.993;0.997;0.996	T	0.76526	-0.2927	10	0.87932	D	0	-29.8795	15.1519	0.72706	0.0:0.8335:0.0:0.1665	.	639;963;915	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	L	639;963;915;625	ENSP00000341835:F915L;ENSP00000400148:F625L	ENSP00000341835:F915L	F	+	3	2	MYOCD	12607614	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	0.723000	0.25939	-0.040000	0.13580	-0.290000	0.09829	TTC		PASS	0.517	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		33	58	33	58	---	---	---	---
PRPSAP2	5636	broad.mit.edu	37	17	18775920	18775920	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:18775920C>G	ENST00000268835.2	+	5	480	c.197C>G	c.(196-198)tCt>tGt	p.S66C	PRPSAP2_ENST00000542013.1_Missense_Mutation_p.S66C|PRPSAP2_ENST00000536323.1_5'UTR|PRPSAP2_ENST00000419071.2_Intron	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	66					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)	p.S66C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						ATTCAAGAGTCTGTGAGGGGA	0.353																																						uc002gup.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(196-198)TCT>TGT		phosphoribosyl pyrophosphate							194.0	203.0	200.0					17																	18775920		2203	4300	6503	SO:0001583	missense	5636				nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:18775920C>G	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.197C>G	17.37:g.18775920C>G	ENSP00000268835:p.Ser66Cys					PRPSAP2_uc002guo.1_5'UTR|PRPSAP2_uc010vyi.1_Intron|PRPSAP2_uc010vyj.1_5'UTR|PRPSAP2_uc010vyk.1_Missense_Mutation_p.S54C	p.S66C	NM_002767	NP_002758	O60256	KPRB_HUMAN			5	408	+			66					B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	ENST00000268835.2	37	c.197C>G	CCDS11200.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673065	0.88445	.	.	ENSG00000141127	ENST00000441887;ENST00000395656;ENST00000414602;ENST00000432893;ENST00000455992;ENST00000412418;ENST00000419284;ENST00000268835;ENST00000422237;ENST00000542013	D;D;D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.97892	1.0298	10	0.87932	D	0	-7.13	19.2313	0.93841	0.0:1.0:0.0:0.0	.	66;66	B7ZKZ1;O60256	.;KPRB_HUMAN	C	66	ENSP00000395127:S66C;ENSP00000416964:S66C;ENSP00000399625:S66C;ENSP00000416021:S66C;ENSP00000402612:S66C;ENSP00000415446:S66C;ENSP00000268835:S66C;ENSP00000401144:S66C;ENSP00000439129:S66C	ENSP00000268835:S66C	S	+	2	0	PRPSAP2	18716645	1.000000	0.71417	0.993000	0.49108	0.821000	0.46438	7.709000	0.84645	2.556000	0.86216	0.585000	0.79938	TCT		PASS	0.353	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		57	283	57	283	---	---	---	---
USP22	23326	broad.mit.edu	37	17	20922416	20922416	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:20922416G>A	ENST00000261497.4	-	4	704	c.501C>T	c.(499-501)atC>atT	p.I167I	USP22_ENST00000537526.2_Silent_p.I155I|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	167					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.I389I(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						AGTTCGAGGTGATCTTTCTCC	0.468																																						uc002gym.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(499-501)ATC>ATT		ubiquitin thiolesterase 22							264.0	260.0	261.0					17																	20922416		1947	4143	6090	SO:0001819	synonymous_variant	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20922416G>A	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.501C>T	17.37:g.20922416G>A						USP22_uc002gyn.3_Silent_p.I155I|USP22_uc002gyl.3_Silent_p.I62I	p.I167I	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN			4	705	-			167					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	ENST00000261497.4	37	c.501C>T	CCDS42285.1																																																																																				PASS	0.468	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			5	260	5	260	---	---	---	---
LIG3	3980	broad.mit.edu	37	17	33323664	33323664	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:33323664G>A	ENST00000378526.4	+	11	1948	c.1815G>A	c.(1813-1815)ttG>ttA	p.L605L	LIG3_ENST00000262327.5_Silent_p.L605L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	605					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.L605L(1)|p.L518L(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)	ATGTCAGCTTGATGGACAGGT	0.438								Other BER factors																														uc002hik.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9						c.(1813-1815)TTG>TTA	Other_BER_factors	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)						210.0	180.0	190.0					17																	33323664		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:33323664G>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.1815G>A	17.37:g.33323664G>A						LIG3_uc002hij.2_Silent_p.L605L	p.L605L	NM_013975	NP_039269	P49916	DNLI3_HUMAN			11	1923	+		Ovarian(249;0.17)	605					Q16714|Q6NVK3	Silent	SNP	ENST00000378526.4	37	c.1815G>A	CCDS11284.2																																																																																				PASS	0.438	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		45	214	45	214	---	---	---	---
MMP28	79148	broad.mit.edu	37	17	34095265	34095265	+	IGR	SNP	G	G	A	rs368107958		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:34095265G>A								C17orf50 (3167 upstream) : MMP28 (10243 downstream)														p.F327F(1)									TGATGGCATCGAAGGAAGAGT	0.532																																						uc002hjy.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(982-984)TTC>TTT		matrix metalloproteinase 28 isoform 1		G		0,3926		0,0,1963	79.0	85.0	83.0		983	-2.5	1.0	17		83	1,8303		0,1,4151	no	coding-synonymous	MMP28	NM_024302.3		0,1,6114	AA,AG,GG		0.012,0.0,0.0082		328/521	34095265	1,12229	1963	4152	6115	SO:0001628	intergenic_variant	79148				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr17:34095265G>A																													17.37:g.34095265G>A						MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	p.F328F	NM_024302	NP_077278	Q9H239	MMP28_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	8	1243	-		Ovarian(249;0.17)	328			Hemopexin-like 1.			Silent	SNP		37	c.984C>T																																																																																				0	PASS	0.532									26	30	26	30	---	---	---	---
PLEKHH3	79990	broad.mit.edu	37	17	40825296	40825296	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:40825296C>G	ENST00000591022.1	-	6	1054	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.E223Q|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.E223Q|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	223					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)		p.E223Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAACGGCCTCTGGGTCCCCG	0.607																																						uc002iau.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(667-669)GAG>CAG		pleckstrin homology domain containing, family H							70.0	74.0	73.0					17																	40825296		2203	4300	6503	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40825296C>G	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.667G>C	17.37:g.40825296C>G	ENSP00000468678:p.Glu223Gln					PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.E223Q	p.E223Q	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	6	1134	-		Breast(137;0.00116)	223					C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.667G>C	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619200	0.87460	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	T;T	0.44881	0.91;0.91	5.55	5.55	0.83447	.	0.000000	0.52532	D	0.000077	T	0.60932	0.2307	L	0.54323	1.7	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.972	T	0.56275	-0.8006	10	0.45353	T	0.12	-15.8952	18.4386	0.90656	0.0:1.0:0.0:0.0	.	223;223	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	Q	223	ENSP00000293349:E223Q;ENSP00000411885:E223Q	ENSP00000293349:E223Q	E	-	1	0	PLEKHH3	38078822	1.000000	0.71417	0.875000	0.34327	0.945000	0.59286	5.823000	0.69272	2.894000	0.99253	0.655000	0.94253	GAG		PASS	0.607	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		34	136	34	136	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42513912	42513912	+	Splice_Site	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:42513912C>T	ENST00000591680.1	-	4	225	c.195G>A	c.(193-195)ggG>ggA	p.G65G	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_5'UTR	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	65	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G65G(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GATCTGTTCTCCCTGTAACAG	0.423																																						uc002igw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(193-195)GGG>GGA		G patch domain containing 8							124.0	103.0	110.0					17																	42513912		2203	4300	6503	SO:0001630	splice_region_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42513912C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.194-1G>A	17.37:g.42513912C>T						GPATCH8_uc002igv.1_5'UTR|GPATCH8_uc010wiz.1_5'UTR	p.G65G	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	4	259	-		Prostate(33;0.0181)	65			G-patch.		B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.195G>A	CCDS32666.1																																																																																				PASS	0.423	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909	Silent	51	70	51	70	---	---	---	---
PLEKHM1	9842	broad.mit.edu	37	17	43531171	43531171	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:43531171C>G	ENST00000430334.3	-	7	2180	c.2047G>C	c.(2047-2049)Gat>Cat	p.D683H	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.D594H	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	683	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.D683H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TTGATGGCATCTGGCTCTGGA	0.592																																						uc002ija.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2047-2049)GAT>CAT		pleckstrin homology domain containing, family M							53.0	56.0	55.0					17																	43531171		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531171C>G	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2047G>C	17.37:g.43531171C>G	ENSP00000389913:p.Asp683His					PLEKHM1_uc010wjm.1_Missense_Mutation_p.D655H|PLEKHM1_uc002ijb.2_Missense_Mutation_p.D158H|PLEKHM1_uc010wjn.1_Missense_Mutation_p.D632H|PLEKHM1_uc002ijc.2_Missense_Mutation_p.D137H	p.D683H	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			7	2217	-	Renal(3;0.0405)		683			PH 2.		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.2047G>C	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779479	0.49891	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.63417	-0.04;-0.04	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.74121	-0.3767	10	0.87932	D	0	.	16.8908	0.86087	0.0:1.0:0.0:0.0	.	594;632;683	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	H	683;632;594	ENSP00000389913:D683H;ENSP00000414352:D594H	ENSP00000414352:D594H	D	-	1	0	PLEKHM1	40886954	1.000000	0.71417	0.443000	0.26883	0.110000	0.19582	7.086000	0.76885	2.572000	0.86782	0.586000	0.80456	GAT		PASS	0.592	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		23	120	23	120	---	---	---	---
HOXB9	3219	broad.mit.edu	37	17	46700471	46700471	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:46700471C>T	ENST00000311177.5	-	2	751	c.544G>A	c.(544-546)Gct>Act	p.A182T	HOXB9_ENST00000550387.1_Missense_Mutation_p.R102H|HOXB7_ENST00000567101.2_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	182					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A182T(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GAAGAGCGAGCGTGCAGCCAG	0.547																																						uc002inx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)GCT>ACT		homeobox B9							124.0	115.0	118.0					17																	46700471		2203	4300	6503	SO:0001583	missense	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46700471C>T		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.544G>A	17.37:g.46700471C>T	ENSP00000309439:p.Ala182Thr						p.A182T	NM_024017	NP_076922	P17482	HXB9_HUMAN			2	748	-			182					B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	37	c.544G>A	CCDS11534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	5.981205|5.981205	0.97168|0.97168	.|.	.|.	ENSG00000170689|ENSG00000170689	ENST00000311177|ENST00000550387	D|.	0.95690|.	-3.78|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Homeodomain-related (1);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71693|0.71693	0.3370|0.3370	L|L	0.55834|0.55834	1.745|1.745	0.46131|0.46131	D|D	0.998883|0.998883	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.66023|0.66023	-0.6026|-0.6026	10|6	0.72032|0.30854	D|T	0.01|0.27	.|.	19.8408|19.8408	0.96685|0.96685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	182|.	P17482|.	HXB9_HUMAN|.	T|H	182|102	ENSP00000309439:A182T|.	ENSP00000309439:A182T|ENSP00000447530:R102H	A|R	-|-	1|2	0|0	HOXB9|HOXB9	44055470|44055470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.797000|7.797000	0.85911|0.85911	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	GCT|CGC		PASS	0.547	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			35	158	35	158	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48263143	48263143	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:48263143C>A	ENST00000225964.5	-	50	4362	c.4244G>T	c.(4243-4245)tGc>tTc	p.C1415F		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1415	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.C1415F(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	ACTCACCGTGCAGCCATCGAC	0.637			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - Missense(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(4243-4245)TGC>TTC		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						46.0	45.0	45.0					17																	48263143		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48263143C>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.4244G>T	17.37:g.48263143C>A	ENSP00000225964:p.Cys1415Phe						p.C1415F	NM_000088	NP_000079	P02452	CO1A1_HUMAN			50	4370	-			1415			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.4244G>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199103	0.38806	.	.	ENSG00000108821	ENST00000225964	D	0.88046	-2.33	4.34	4.34	0.51931	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.96513	0.8862	H	0.99464	4.58	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.98389	1.0562	10	0.87932	D	0	.	15.7598	0.78070	0.0:1.0:0.0:0.0	.	1415	P02452	CO1A1_HUMAN	F	1415	ENSP00000225964:C1415F	ENSP00000225964:C1415F	C	-	2	0	COL1A1	45618142	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	7.559000	0.82265	2.246000	0.74042	0.313000	0.20887	TGC		PASS	0.637	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			13	50	13	50	---	---	---	---
EPN3	55040	broad.mit.edu	37	17	48616632	48616632	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:48616632G>C	ENST00000268933.3	+	5	1426	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_Missense_Mutation_p.E200Q|EPN3_ENST00000537145.1_Missense_Mutation_p.E311Q	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	283						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)	p.E283Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CAGAGAGCCTGAGAGAGAAGA	0.597																																						uc002ira.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(847-849)GAG>CAG		epsin 3							104.0	104.0	104.0					17																	48616632		2203	4300	6503	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48616632G>C	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.847G>C	17.37:g.48616632G>C	ENSP00000268933:p.Glu283Gln					EPN3_uc010wms.1_Missense_Mutation_p.E311Q|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.E256Q	p.E283Q	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		5	1282	+	Breast(11;1.23e-18)		283					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.847G>C	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	3.498	-0.102344	0.06967	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145;ENST00000541226;ENST00000411703	T;T;T	0.46063	2.48;2.46;0.88	4.12	3.05	0.35203	.	0.916360	0.09089	N	0.850096	T	0.35566	0.0936	L	0.46157	1.445	0.19945	N	0.999942	B;B;B	0.16802	0.011;0.019;0.012	B;B;B	0.17433	0.008;0.018;0.009	T	0.30357	-0.9981	10	0.12430	T	0.62	-4.7141	11.1872	0.48664	0.0:0.2423:0.7577:0.0	.	311;311;283	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	Q	283;311;311;200;283	ENSP00000268933:E283Q;ENSP00000439512:E311Q;ENSP00000440540:E200Q	ENSP00000268933:E283Q	E	+	1	0	EPN3	45971631	0.734000	0.28142	0.203000	0.23512	0.018000	0.09664	1.988000	0.40697	0.928000	0.37168	0.313000	0.20887	GAG		PASS	0.597	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		14	79	14	79	---	---	---	---
MMD	23531	broad.mit.edu	37	17	53499048	53499048	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:53499048G>C	ENST00000262065.3	-	1	305	c.9C>G	c.(7-9)ttC>ttG	p.F3L	MMD_ENST00000577038.1_5'UTR	NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	3					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.F3L(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						ATCGATTCTTGAACCGCATTG	0.687																																						uc002iui.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)TTC>TTG		monocyte to macrophage							89.0	79.0	83.0					17																	53499048		2203	4300	6503	SO:0001583	missense	23531				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	g.chr17:53499048G>C	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.9C>G	17.37:g.53499048G>C	ENSP00000262065:p.Phe3Leu						p.F3L	NM_012329	NP_036461	Q15546	PAQRB_HUMAN			1	294	-			3			Cytoplasmic (Potential).		B2R6X9|D3DTY6|Q8TAN7	Missense_Mutation	SNP	ENST00000262065.3	37	c.9C>G	CCDS11586.1	.	.	.	.	.	.	.	.	.	.	G	9.275	1.046691	0.19748	.	.	ENSG00000108960	ENST00000262065	.	.	.	4.59	4.59	0.56863	.	0.807672	0.11368	N	0.571141	T	0.20292	0.0488	N	0.02011	-0.69	0.33230	D	0.555764	B	0.02656	0.0	B	0.01281	0.0	T	0.05937	-1.0855	9	0.02654	T	1	-22.8601	12.7794	0.57469	0.0:0.0:1.0:0.0	.	3	Q15546	PAQRB_HUMAN	L	3	.	ENSP00000262065:F3L	F	-	3	2	MMD	50854047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.633000	0.46519	2.381000	0.81170	0.561000	0.74099	TTC		PASS	0.687	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1			4	127	4	127	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54428250	54428250	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:54428250G>A	ENST00000318698.2	+	4	356	c.321G>A	c.(319-321)ctG>ctA	p.L107L	ANKFN1_ENST00000566473.2_Silent_p.L107L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	107								p.L107L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTGAGAAACTGAAAGGGAGCC	0.443																																						uc002iun.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(319-321)CTG>CTA		ankyrin-repeat and fibronectin type III domain							73.0	72.0	72.0					17																	54428250		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54428250G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.321G>A	17.37:g.54428250G>A							p.L107L	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			4	356	+			107						Silent	SNP	ENST00000318698.2	37	c.321G>A	CCDS32686.1																																																																																				PASS	0.443	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		17	83	17	83	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55027748	55027748	+	Silent	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:55027748A>T	ENST00000240316.4	-	2	889	c.855T>A	c.(853-855)tcT>tcA	p.S285S		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	285						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.S285S(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TATTTTTGGTAGAGGGTTCTT	0.438																																						uc002iuu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(853-855)TCT>TCA		coilin							113.0	115.0	114.0					17																	55027748		2203	4300	6503	SO:0001819	synonymous_variant	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027748A>T	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.855T>A	17.37:g.55027748A>T							p.S285S	NM_004645	NP_004636	P38432	COIL_HUMAN			2	886	-	Breast(9;6.15e-08)		285					B2R931	Silent	SNP	ENST00000240316.4	37	c.855T>A	CCDS11592.1																																																																																				PASS	0.438	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			52	273	52	273	---	---	---	---
SKA2	348235	broad.mit.edu	37	17	57208656	57208656	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:57208656C>G	ENST00000330137.7	-	2	211	c.106G>C	c.(106-108)Gat>Cat	p.D36H	SKA2_ENST00000580541.1_Intron|SKA2_ENST00000581068.1_Missense_Mutation_p.D36H|SKA2_ENST00000583927.1_Intron|RNU2-58P_ENST00000516403.1_RNA|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000583380.1_Missense_Mutation_p.D36H|SKA2_ENST00000437036.2_Silent_p.L67L	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	36					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)	p.L67L(2)|p.D26H(1)		lung(4)	4						CTTGCTGAATCAGGATGATTA	0.328																																						uc002ixd.2																			3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(3)		0						c.(106-108)GAT>CAT		spindle and KT associated 2 isoform 1							62.0	52.0	55.0					17																	57208656		1821	4075	5896	SO:0001583	missense	348235				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr17:57208656C>G	BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"""family with sequence similarity 33, member A"""	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.106G>C	17.37:g.57208656C>G	ENSP00000333433:p.Asp36His					SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_Silent_p.L67L|SKA2_uc002ixe.2_RNA	p.D36H	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN			2	382	-			36					A6NIL3|B3KPL3|E9PCB8	Missense_Mutation	SNP	ENST00000330137.7	37	c.106G>C	CCDS45747.1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.189943	0.21954	.	.	ENSG00000182628	ENST00000330137	T	0.32023	1.47	5.56	2.26	0.28386	.	0.406507	0.28821	N	0.014026	T	0.19685	0.0473	.	.	.	0.26229	N	0.979048	B	0.17667	0.023	B	0.23150	0.044	T	0.15178	-1.0446	9	0.32370	T	0.25	.	7.1216	0.25448	0.0:0.5594:0.3488:0.0918	.	36	Q8WVK7	SKA2_HUMAN	H	36	ENSP00000333433:D36H	ENSP00000333433:D36H	D	-	1	0	SKA2	54563438	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	2.567000	0.45956	0.697000	0.31718	-0.142000	0.14014	GAT		PASS	0.328	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445939.1	NM_182620		3	14	3	14	---	---	---	---
ICAM2	3384	broad.mit.edu	37	17	62081218	62081218	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:62081218G>C	ENST00000412356.1	-	5	789	c.435C>G	c.(433-435)ctC>ctG	p.L145L	C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578379.1_Silent_p.L44L|ICAM2_ENST00000579687.1_Silent_p.L145L|ICAM2_ENST00000449662.2_Silent_p.L145L|ICAM2_ENST00000579788.1_Silent_p.L145L|ICAM2_ENST00000418105.1_Silent_p.L145L|ICAM2_ENST00000578892.1_Silent_p.L121L	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	145	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)	p.L145L(1)		large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGAAGAGGGTGAGGCTGTCCA	0.607																																						uc002jdu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(433-435)CTC>CTG		intercellular adhesion molecule 2 precursor							68.0	62.0	64.0					17																	62081218		2203	4300	6503	SO:0001819	synonymous_variant	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62081218G>C		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.435C>G	17.37:g.62081218G>C						C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Silent_p.L145L|ICAM2_uc010ded.2_Silent_p.L145L|ICAM2_uc002jdx.3_Silent_p.L145L|ICAM2_uc002jdv.3_Silent_p.L145L	p.L145L	NM_000873	NP_000864	P13598	ICAM2_HUMAN			3	667	-			145			Ig-like C2-type 2.|Extracellular (Potential).		Q14600	Silent	SNP	ENST00000412356.1	37	c.435C>G	CCDS11657.1																																																																																				PASS	0.607	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			15	75	15	75	---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63221470	63221470	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:63221470G>C	ENST00000262406.9	+	18	1825	c.1758G>C	c.(1756-1758)ctG>ctC	p.L586L	RGS9_ENST00000443584.3_Silent_p.L583L|RGS9_ENST00000449996.3_Silent_p.L583L	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	586					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.L586L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCAGGTTTCTGAGACGAGGCT	0.682																																						uc002jfe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1756-1758)CTG>CTC		regulator of G-protein signaling 9 isoform 1							76.0	80.0	79.0					17																	63221470		1956	4134	6090	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63221470G>C	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1758G>C	17.37:g.63221470G>C						RGS9_uc010dem.2_Silent_p.L583L|RGS9_uc002jfd.2_Silent_p.L583L|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.L357L	p.L586L	NM_003835	NP_003826	O75916	RGS9_HUMAN			18	1868	+			586					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.1758G>C	CCDS42373.1																																																																																				PASS	0.682	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		24	220	24	220	---	---	---	---
CEP112	201134	broad.mit.edu	37	17	63898434	63898434	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:63898434C>G	ENST00000392769.2	-	20	2217	c.1999G>C	c.(1999-2001)Gag>Cag	p.E667Q	CEP112_ENST00000541355.1_Missense_Mutation_p.E302Q|CEP112_ENST00000535342.2_Missense_Mutation_p.E667Q|CEP112_ENST00000537949.1_Missense_Mutation_p.E625Q	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	667					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.E667Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGTTCATGCTCCAGCTTCAGC	0.438																																						uc002jfl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1999-2001)GAG>CAG		coiled-coil domain containing 46 isoform a							156.0	124.0	135.0					17																	63898434		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:63898434C>G	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1999G>C	17.37:g.63898434C>G	ENSP00000376522:p.Glu667Gln					CCDC46_uc010deo.2_Missense_Mutation_p.E409Q|CCDC46_uc002jfm.2_Missense_Mutation_p.E667Q|CCDC46_uc010dep.2_Missense_Mutation_p.E625Q	p.E667Q	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		20	2218	-			667			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.1999G>C	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	8.684	0.905813	0.17760	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.65	5.65	0.86999	.	0.118692	0.56097	D	0.000024	T	0.38480	0.1042	L	0.28274	0.84	0.40458	D	0.980217	P;P;P	0.37731	0.607;0.607;0.607	B;B;B	0.36418	0.224;0.224;0.224	T	0.15263	-1.0443	10	0.25751	T	0.34	-20.5925	19.7129	0.96103	0.0:1.0:0.0:0.0	.	625;625;667	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	Q	667;667;302;625	ENSP00000442784:E667Q;ENSP00000376522:E667Q;ENSP00000443711:E302Q;ENSP00000440775:E625Q	ENSP00000376522:E667Q	E	-	1	0	CEP112	61328896	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.911000	0.63328	2.658000	0.90341	0.650000	0.86243	GAG		PASS	0.438	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		16	99	16	99	---	---	---	---
PITPNC1	26207	broad.mit.edu	37	17	65467626	65467626	+	Intron	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:65467626G>C	ENST00000581322.1	+	2	48				PITPNC1_ENST00000335257.6_Intron|MIR548AA2_ENST00000384955.2_RNA|PITPNC1_ENST00000580974.1_Intron|PITPNC1_ENST00000299954.9_Intron			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1						phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			tggtgcaaaagaaactgtggt	0.338																																						hsa-mir-548d-2|MI0003671																			0					0															60.0	54.0	56.0					17																	65467626		1549	3531	5080	SO:0001627	intron_variant	693131							g.chr17:65467626G>C	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.49-61292G>C	17.37:g.65467626G>C						PITPNC1_uc002jgb.2_Intron|PITPNC1_uc002jgc.2_Intron										-								A8K473|J3QR20|Q96I07	RNA	SNP	ENST00000581322.1	37	c.76G>C	CCDS58588.1																																																																																				PASS	0.338	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		4	18	4	18	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	66992106	66992106	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:66992106A>G	ENST00000340001.4	-	26	3696	c.3485T>C	c.(3484-3486)cTa>cCa	p.L1162P	ABCA9_ENST00000453985.2_Missense_Mutation_p.L1124P|ABCA9_ENST00000370732.2_Missense_Mutation_p.L1162P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1162					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L1162P(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAATAGCCCTAGAAATCCATA	0.373																																						uc002jhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(3484-3486)CTA>CCA		ATP-binding cassette, sub-family A, member 9							135.0	122.0	127.0					17																	66992106		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66992106A>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3485T>C	17.37:g.66992106A>G	ENSP00000342216:p.Leu1162Pro					ABCA9_uc010dez.2_Missense_Mutation_p.L1124P	p.L1162P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			26	3628	-	Breast(10;1.47e-12)		1162					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3485T>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	7.932	0.740876	0.15642	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.90444	-2.67;-2.67	5.67	2.14	0.27477	.	1.752510	0.03743	N	0.255280	D	0.85075	0.5614	L	0.35723	1.085	0.09310	N	0.999999	B;B	0.13145	0.007;0.005	B;B	0.15870	0.005;0.014	T	0.67389	-0.5683	10	0.27785	T	0.31	.	4.1576	0.10268	0.6829:0.0:0.1677:0.1494	.	1162;1162	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	P	1162;1107;1162;1119	ENSP00000342216:L1162P;ENSP00000359767:L1162P	ENSP00000342216:L1162P	L	-	2	0	ABCA9	64503701	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.312000	0.19397	0.403000	0.25479	0.496000	0.49642	CTA		PASS	0.373	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		18	90	18	90	---	---	---	---
DNAI2	64446	broad.mit.edu	37	17	72285829	72285829	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:72285829G>T	ENST00000311014.6	+	5	631	c.564G>T	c.(562-564)caG>caT	p.Q188H	DNAI2_ENST00000307504.5_Missense_Mutation_p.Q45H|DNAI2_ENST00000579490.1_Missense_Mutation_p.Q245H|DNAI2_ENST00000446837.2_Missense_Mutation_p.Q188H|DNAI2_ENST00000582036.1_Missense_Mutation_p.Q188H			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	188					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.Q188H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGATTTTCAGCGGGCACCTG	0.622									Kartagener syndrome																													uc002jkf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(562-564)CAG>CAT		dynein, axonemal, intermediate polypeptide 2							69.0	67.0	67.0					17																	72285829		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72285829G>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.564G>T	17.37:g.72285829G>T	ENSP00000308312:p.Gln188His					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	p.Q188H	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			5	663	+			188			WD 1.		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.564G>T	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598589	0.66332	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.15487	2.42;2.42;2.42	4.81	1.4	0.22301	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.93062	3.375	0.53688	D	0.99997	D	0.89917	1.0	D	0.79784	0.993	T	0.45673	-0.9245	10	0.66056	D	0.02	-22.7586	8.3124	0.32080	0.3581:0.0:0.6419:0.0	.	188	Q9GZS0	DNAI2_HUMAN	H	188;45;188	ENSP00000308312:Q188H;ENSP00000302929:Q45H;ENSP00000400252:Q188H	ENSP00000302929:Q45H	Q	+	3	2	DNAI2	69797424	1.000000	0.71417	0.961000	0.40146	0.930000	0.56654	1.921000	0.40035	0.347000	0.23924	0.313000	0.20887	CAG		PASS	0.622	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		13	65	13	65	---	---	---	---
CASKIN2	57513	broad.mit.edu	37	17	73499763	73499763	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:73499763C>T	ENST00000321617.3	-	16	2243	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E471K	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	553						cytoplasm (GO:0005737)		p.E553K(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCAGCCACTCGGCGATGCTG	0.617																																						uc002joc.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1657-1659)GAG>AAG		cask-interacting protein 2 isoform a							65.0	55.0	59.0					17																	73499763		2202	4300	6502	SO:0001583	missense	57513					cytoplasm		g.chr17:73499763C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1657G>A	17.37:g.73499763C>T	ENSP00000325355:p.Glu553Lys					CASKIN2_uc010wsc.1_Missense_Mutation_p.E471K	p.E553K	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		16	2207	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		553					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.1657G>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386151	0.82902	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	D;D	0.81908	-1.55;-1.55	4.32	4.32	0.51571	Sterile alpha motif/pointed domain (2);	0.000000	0.43747	D	0.000534	D	0.88220	0.6378	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.63192	0.912	D	0.88504	0.3084	10	0.46703	T	0.11	.	16.9984	0.86375	0.0:1.0:0.0:0.0	.	553	Q8WXE0	CSKI2_HUMAN	K	553;471	ENSP00000325355:E553K;ENSP00000406963:E471K	ENSP00000325355:E553K	E	-	1	0	CASKIN2	71011358	1.000000	0.71417	0.976000	0.42696	0.961000	0.63080	7.471000	0.80985	2.240000	0.73641	0.655000	0.94253	GAG		PASS	0.617	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		16	43	16	43	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74011346	74011346	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:74011346C>T	ENST00000301607.3	-	16	2243	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	EVPL_ENST00000586740.1_Missense_Mutation_p.E686K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	664	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.E664K(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCCCCGGTTCAGCAGGGATG	0.682																																						uc002jqi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(1990-1992)GAA>AAA		envoplakin							15.0	15.0	15.0					17																	74011346		2200	4292	6492	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74011346C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1990G>A	17.37:g.74011346C>T	ENSP00000301607:p.Glu664Lys					EVPL_uc010wss.1_Missense_Mutation_p.E686K|EVPL_uc010wst.1_Missense_Mutation_p.E134K	p.E664K	NM_001988	NP_001979	Q92817	EVPL_HUMAN			16	2218	-			664			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1990G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	3.837	-0.034563	0.07543	.	.	ENSG00000167880	ENST00000301607	T	0.35421	1.31	4.85	3.85	0.44370	.	1.021820	0.07744	N	0.947518	T	0.19366	0.0465	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.11329	0.006;0.002	T	0.27088	-1.0084	10	0.17369	T	0.5	-12.8677	7.6199	0.28179	0.2981:0.6156:0.0:0.0862	.	686;664	B7ZLH8;Q92817	.;EVPL_HUMAN	K	664	ENSP00000301607:E664K	ENSP00000301607:E664K	E	-	1	0	EVPL	71522941	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.059000	0.11731	1.099000	0.41499	0.462000	0.41574	GAA		PASS	0.682	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		3	19	3	19	---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74148493	74148493	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:74148493C>G	ENST00000269391.6	-	18	1996	c.1864G>C	c.(1864-1866)Gac>Cac	p.D622H	RNF157-AS1_ENST00000586627.1_RNA|RNF157_ENST00000319945.6_Missense_Mutation_p.D600H|RNF157-AS1_ENST00000592748.1_RNA|RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000586661.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	622							zinc ion binding (GO:0008270)	p.D1226H(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CTTGCGATGTCAAAGTCATTG	0.488																																					GBM(186;507 2120 27388 27773 52994)	uc002jqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1864-1866)GAC>CAC		ring finger protein 157							329.0	253.0	279.0					17																	74148493		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74148493C>G	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1864G>C	17.37:g.74148493C>G	ENSP00000269391:p.Asp622His					RNF157_uc002jra.2_Missense_Mutation_p.D600H|uc002jqy.1_Intron	p.D622H	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		18	1933	-			622					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.1864G>C	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636989	0.67130	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.31247	1.64;1.5	5.18	5.18	0.71444	.	0.222170	0.39985	N	0.001218	T	0.45558	0.1348	L	0.51422	1.61	0.80722	D	1	D;P	0.54964	0.969;0.681	P;B	0.55161	0.77;0.293	T	0.38542	-0.9656	10	0.66056	D	0.02	-24.9117	18.4759	0.90792	0.0:1.0:0.0:0.0	.	600;622	Q96PX1-2;Q96PX1	.;RN157_HUMAN	H	622;600	ENSP00000269391:D622H;ENSP00000321837:D600H	ENSP00000269391:D622H	D	-	1	0	RNF157	71660088	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.829000	0.62737	2.684000	0.91462	0.655000	0.94253	GAC		PASS	0.488	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		23	131	23	131	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76433779	76433779	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:76433779C>G	ENST00000585328.1	-	74	12086	c.11962G>C	c.(11962-11964)Gag>Cag	p.E3988Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.E3987Q|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3987	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E3988Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGGGGGGCTCGTTGGTGATC	0.657																																						uc010dhp.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(1)	9						c.(2977-2979)GAG>CAG		SubName: Full=DNAH17 variant protein; Flags: Fragment;							66.0	55.0	59.0					17																	76433779		2202	4297	6499	SO:0001583	missense	8632							g.chr17:76433779C>G	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11962G>C	17.37:g.76433779C>G	ENSP00000465516:p.Glu3988Gln					DNAH17_uc002jvq.2_Missense_Mutation_p.E278Q|DNAH17_uc002jvs.2_RNA	p.E993Q					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		19	3199	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.2977G>C		.	.	.	.	.	.	.	.	.	.	C	24.5	4.536190	0.85812	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.29397	1.57	5.09	5.09	0.68999	.	0.472885	0.20405	N	0.092977	T	0.77745	0.4176	H	0.99890	4.9	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89151	0.3523	10	0.87932	D	0	.	18.4991	0.90875	0.0:1.0:0.0:0.0	.	3988	E7EUM8	.	Q	3988;3987	ENSP00000374490:E3987Q	ENSP00000300671:E3988Q	E	-	1	0	DNAH17	73945374	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	7.705000	0.84606	2.363000	0.80096	0.462000	0.41574	GAG		PASS	0.657	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		12	30	12	30	---	---	---	---
TIMP2	7077	broad.mit.edu	37	17	76869934	76869934	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:76869934G>C	ENST00000262768.7	-	2	496	c.198C>G	c.(196-198)atC>atG	p.I66M	TIMP2_ENST00000536189.2_De_novo_Start_InFrame|TIMP2_ENST00000586057.1_De_novo_Start_InFrame|TIMP2_ENST00000585421.1_De_novo_Start_InFrame	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	66	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.I66M(1)		central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GGATCCTCTTGATAGGGTTGC	0.527																																						uc002jwf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(196-198)ATC>ATG		TIMP metallopeptidase inhibitor 2 precursor							172.0	150.0	157.0					17																	76869934		2203	4300	6503	SO:0001583	missense	7077						metal ion binding|metalloendopeptidase inhibitor activity	g.chr17:76869934G>C		CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.198C>G	17.37:g.76869934G>C	ENSP00000262768:p.Ile66Met					TIMP2_uc002jwe.2_Translation_Start_Site|TIMP2_uc010wty.1_Translation_Start_Site	p.I66M	NM_003255	NP_003246	P16035	TIMP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)		2	500	-			66			NTR.		Q16121|Q93006|Q9UDF7	Missense_Mutation	SNP	ENST00000262768.7	37	c.198C>G	CCDS11758.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937630	0.52972	.	.	ENSG00000035862	ENST00000262768	D	0.95307	-3.67	4.92	3.91	0.45181	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.111023	0.64402	D	0.000018	D	0.95812	0.8637	M	0.66939	2.045	0.80722	D	1	D	0.59767	0.986	D	0.66497	0.944	D	0.94799	0.7969	10	0.42905	T	0.14	.	11.5484	0.50706	0.0:0.0:0.6832:0.3168	.	66	P16035	TIMP2_HUMAN	M	66	ENSP00000262768:I66M	ENSP00000262768:I66M	I	-	3	3	TIMP2	74381529	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.312000	0.59154	2.270000	0.75569	0.561000	0.74099	ATC		PASS	0.527	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335662.1	NM_003255		29	96	29	96	---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78021137	78021137	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:78021137C>G	ENST00000397545.4	+	4	639	c.612C>G	c.(610-612)ttC>ttG	p.F204L	CCDC40_ENST00000269318.5_Missense_Mutation_p.F204L|CCDC40_ENST00000374877.3_Missense_Mutation_p.F204L|CCDC40_ENST00000374876.4_Missense_Mutation_p.F204L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	204					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.F204L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCACCGCTTCCGGCTGAGCC	0.617																																						uc010dht.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(610-612)TTC>TTG		coiled-coil domain containing 40							39.0	42.0	41.0					17																	78021137		2026	4172	6198	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78021137C>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.612C>G	17.37:g.78021137C>G	ENSP00000380679:p.Phe204Leu					CCDC40_uc010wub.1_Missense_Mutation_p.F204L|CCDC40_uc002jxm.3_5'Flank	p.F204L	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		4	639	+	all_neural(118;0.167)		204					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.612C>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	6.940	0.543247	0.13250	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.51325	0.74;0.71;0.74;0.81	2.95	-1.79	0.07932	.	.	.	.	.	T	0.18800	0.0451	N	0.05383	-0.06	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.11329	0.006;0.001	T	0.23368	-1.0190	9	0.10111	T	0.7	-3.6379	2.2199	0.03970	0.1863:0.3311:0.365:0.1175	.	204;204	Q4G0X9-5;Q4G0X9	.;CCD40_HUMAN	L	204	ENSP00000364011:F204L;ENSP00000269318:F204L;ENSP00000364010:F204L;ENSP00000380679:F204L	ENSP00000269318:F204L	F	+	3	2	CCDC40	75635732	0.001000	0.12720	0.000000	0.03702	0.162000	0.22319	0.174000	0.16743	-0.309000	0.08779	-0.304000	0.09214	TTC		PASS	0.617	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		7	39	7	39	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78272248	78272248	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:78272248C>G	ENST00000582970.1	+	11	2283	c.2140C>G	c.(2140-2142)Cag>Gag	p.Q714E	RNF213_ENST00000319921.4_Missense_Mutation_p.Q714E|RNF213_ENST00000456466.1_Missense_Mutation_p.Q714E|RNF213_ENST00000508628.2_Missense_Mutation_p.Q763E	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	714					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q714E(2)|p.Q763E(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCCTGGAGACAGCCTGAGGA	0.582																																						uc002jyf.2																			3	Substitution - Missense(3)		lung(3)								c.(2140-2142)CAG>GAG		hypothetical protein LOC57714							80.0	68.0	72.0					17																	78272248		2203	4300	6503	SO:0001583	missense	0							g.chr17:78272248C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2140C>G	17.37:g.78272248C>G	ENSP00000464087:p.Gln714Glu					uc002jyg.1_Missense_Mutation_p.Q445E	p.Q714E	NM_020954	NP_066005					11	2283	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.2140C>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	c	9.598	1.127914	0.20959	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.45	4.45	0.53987	.	0.541835	0.15193	N	0.275455	T	0.47673	0.1458	M	0.67953	2.075	0.23653	N	0.9972	P;P	0.50819	0.884;0.939	B;P	0.47864	0.328;0.559	T	0.45963	-0.9225	9	0.62326	D	0.03	-12.3544	10.1241	0.42639	0.1996:0.8003:0.0:0.0	.	714;714	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	E	714;763;714;714	.	ENSP00000324392:Q714E	Q	+	1	0	RNF213	75886843	0.011000	0.17503	0.027000	0.17364	0.081000	0.17604	1.240000	0.32731	2.460000	0.83146	0.645000	0.84053	CAG		PASS	0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		18	53	18	53	---	---	---	---
BAIAP2	10458	broad.mit.edu	37	17	79077806	79077806	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:79077806A>G	ENST00000321300.6	+	9	1057	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	BAIAP2_ENST00000435091.3_Missense_Mutation_p.K322E|BAIAP2_ENST00000416299.2_Missense_Mutation_p.K185E|BAIAP2_ENST00000392411.3_Missense_Mutation_p.K244E|BAIAP2_ENST00000321280.7_Missense_Mutation_p.K322E|BAIAP2_ENST00000575245.1_Missense_Mutation_p.K355E|BAIAP2_ENST00000428708.2_Missense_Mutation_p.K322E|BAIAP2_ENST00000575712.1_Missense_Mutation_p.K322E	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	322					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)	p.K322E(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGCCCAGCCCAAATCCCTGTC	0.622																																						uc002jzg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(964-966)AAA>GAA		BAI1-associated protein 2 isoform 2							90.0	94.0	93.0					17																	79077806		2203	4300	6503	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79077806A>G	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.964A>G	17.37:g.79077806A>G	ENSP00000316338:p.Lys322Glu					BAIAP2_uc002jyz.3_Missense_Mutation_p.K322E|BAIAP2_uc002jza.2_Missense_Mutation_p.K322E|BAIAP2_uc002jzc.2_Missense_Mutation_p.K322E|BAIAP2_uc002jzb.2_Missense_Mutation_p.K79E|BAIAP2_uc002jzd.2_Missense_Mutation_p.K322E|BAIAP2_uc002jzf.2_Missense_Mutation_p.K322E|BAIAP2_uc002jze.2_Missense_Mutation_p.K355E|BAIAP2_uc010wuh.1_Missense_Mutation_p.K244E|BAIAP2_uc002jzh.2_Missense_Mutation_p.K323E|BAIAP2_uc010wui.1_Missense_Mutation_p.K185E	p.K322E	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		9	1072	+	all_neural(118;0.101)		322					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.964A>G	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.074275	0.36566	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.07	5.07	0.68467	.	0.307265	0.35708	N	0.003035	T	0.36468	0.0968	L	0.44542	1.39	0.41952	D	0.990666	P;P;P;P;P;P;B;P;P	0.51057	0.626;0.644;0.941;0.842;0.841;0.459;0.256;0.841;0.887	B;B;B;B;B;B;B;B;B	0.43754	0.156;0.356;0.323;0.366;0.311;0.307;0.023;0.311;0.43	T	0.14531	-1.0469	10	0.11485	T	0.65	-0.8675	14.8352	0.70177	1.0:0.0:0.0:0.0	.	185;244;323;322;322;322;322;322;322	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	E	322;322;322;322;244;185	ENSP00000316338:K322E;ENSP00000401022:K322E;ENSP00000413069:K322E;ENSP00000315685:K322E;ENSP00000376211:K244E;ENSP00000391837:K185E	ENSP00000315685:K322E	K	+	1	0	BAIAP2	76692401	1.000000	0.71417	0.988000	0.46212	0.981000	0.71138	3.189000	0.50965	1.913000	0.55393	0.379000	0.24179	AAA		PASS	0.622	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			27	86	27	86	---	---	---	---
DCXR	51181	broad.mit.edu	37	17	79994269	79994269	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:79994269C>G	ENST00000306869.2	-	6	553	c.504G>C	c.(502-504)ggG>ggC	p.G168G	RP13-650J16.1_ENST00000584705.1_RNA|RP13-650J16.1_ENST00000582558.1_RNA|DCXR_ENST00000584318.1_5'Flank	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	168					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)	p.G168G(1)		kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCTTGTGGGGCCCGAGCTCTA	0.637																																						uc002kdg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(502-504)GGG>GGC		dicarbonyl/L-xylulose reductase							48.0	50.0	49.0					17																	79994269		2203	4299	6502	SO:0001819	synonymous_variant	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79994269C>G	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 20C, member 1"""	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.504G>C	17.37:g.79994269C>G							p.G168G	NM_016286	NP_057370	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		6	519	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		168					Q9BTZ3|Q9UHY9	Silent	SNP	ENST00000306869.2	37	c.504G>C	CCDS11799.1																																																																																				PASS	0.637	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			13	55	13	55	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80897338	80897338	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:80897338C>G	ENST00000355528.4	+	37	3595	c.3465C>G	c.(3463-3465)ctC>ctG	p.L1155L	TBCD_ENST00000539345.2_Silent_p.L1193L|TBCD_ENST00000576691.1_3'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	1155					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.L1155L(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGACTGTGCTCAGTGACACTG	0.632																																						uc002kfz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3463-3465)CTC>CTG		beta-tubulin cofactor D							101.0	110.0	107.0					17																	80897338		2200	4289	6489	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80897338C>G	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.3465C>G	17.37:g.80897338C>G						TBCD_uc002kfy.1_Silent_p.L1193L|TBCD_uc002kgc.2_Silent_p.L274L|TBCD_uc002kgd.2_Silent_p.L147L	p.L1155L	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		37	3595	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	1155					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.3465C>G	CCDS45818.1																																																																																				PASS	0.632	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		3	16	3	16	---	---	---	---
ZBTB14	7541	broad.mit.edu	37	18	5291254	5291254	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr18:5291254G>T	ENST00000357006.4	-	4	1291	c.953C>A	c.(952-954)gCc>gAc	p.A318D	ZBTB14_ENST00000400143.3_Missense_Mutation_p.A318D	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	318					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A318D(2)									TTTCAGGTGGGCCTGTGTGGT	0.453																																						uc002kmq.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)	1						c.(952-954)GCC>GAC		zinc finger protein 161 homolog							143.0	137.0	139.0					18																	5291254		2203	4300	6503	SO:0001583	missense	7541				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:5291254G>T	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.953C>A	18.37:g.5291254G>T	ENSP00000349503:p.Ala318Asp					ZFP161_uc002kmr.2_Missense_Mutation_p.A318D|ZFP161_uc010dkp.2_Missense_Mutation_p.A318D	p.A318D	NM_003409	NP_003400	O43829	ZF161_HUMAN			4	1114	-			318			C2H2-type 2.		O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.953C>A	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089809	0.55968	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.07444	3.19;3.19	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	N	0.11364	0.135	0.80722	D	1	D	0.63046	0.992	P	0.45577	0.486	T	0.21042	-1.0257	10	0.72032	D	0.01	-17.5393	20.053	0.97634	0.0:0.0:1.0:0.0	.	318	O43829	ZF161_HUMAN	D	318	ENSP00000349503:A318D;ENSP00000383009:A318D	ENSP00000349503:A318D	A	-	2	0	ZFP161	5281254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.793000	0.99091	2.733000	0.93635	0.650000	0.86243	GCC		PASS	0.453	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		5	105	5	105	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19780785	19780785	+	Nonstop_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr18:19780785G>C	ENST00000269216.3	+	7	2064	c.1787G>C	c.(1786-1788)tGa>tCa	p.*596S	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Nonstop_Mutation_p.*596S	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	0					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.*596S(1)		NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCCCTGGCCTGAGCCCACGCC	0.682																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1																			1	Nonstop extension(1)		lung(1)	central_nervous_system(3)	3						c.(1786-1788)TGA>TCA		GATA binding protein 6							28.0	22.0	24.0					18																	19780785		2201	4298	6499	SO:0001578	stop_lost	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19780785G>C	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1787G>C	18.37:g.19780785G>C	ENSP00000269216:p.*596Serext*55					GATA6_uc002ktu.1_Nonstop_Mutation_p.*596S	p.*596S	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		7	2052	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		596					B0YJ17|P78327	Nonstop_Mutation	SNP	ENST00000269216.3	37	c.1787G>C	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998308	0.74818	.	.	ENSG00000141448	ENST00000269216	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	S	596	.	.	X	+	2	2	GATA6	18034783	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.941000	0.63540	2.793000	0.96121	0.655000	0.94253	TGA		PASS	0.682	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		7	26	7	26	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21913048	21913048	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr18:21913048G>A	ENST00000319481.3	-	7	689	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	161	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.L161L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGGGCCTGTTGAGCTAACAAT	0.418																																						uc002kve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(481-483)CTC>CTT		oxysterol-binding protein-like 1A isoform B							83.0	73.0	77.0					18																	21913048		2203	4300	6503	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21913048G>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.483C>T	18.37:g.21913048G>A							p.L161L	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			7	657	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		161					B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.483C>T	CCDS11884.1																																																																																				PASS	0.418	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		18	79	18	79	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22805569	22805569	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr18:22805569C>T	ENST00000361524.3	-	4	2461	c.2313G>A	c.(2311-2313)gtG>gtA	p.V771V	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.V771V|ZNF521_ENST00000584787.1_Silent_p.V551V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	771					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.V771V(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGTTGTGTTTCACATGGAGCT	0.498			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(2311-2313)GTG>GTA		zinc finger protein 521							110.0	95.0	100.0					18																	22805569		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805569C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2313G>A	18.37:g.22805569C>T						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.V771V|ZNF521_uc002kvl.2_Silent_p.V551V	p.V771V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2560	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		771			C2H2-type 18.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.2313G>A	CCDS32806.1																																																																																				PASS	0.498	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		9	93	9	93	---	---	---	---
SS18	6760	broad.mit.edu	37	18	23619391	23619391	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr18:23619391G>C	ENST00000415083.2	-	6	692	c.637C>G	c.(637-639)Cag>Gag	p.Q213E	SS18_ENST00000585241.1_5'UTR|SS18_ENST00000545952.1_Missense_Mutation_p.Q161E|SS18_ENST00000542743.1_Missense_Mutation_p.Q161E|SS18_ENST00000542420.2_Missense_Mutation_p.Q190E|SS18_ENST00000539849.1_Missense_Mutation_p.Q131E|SS18_ENST00000269137.7_Missense_Mutation_p.Q213E	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	213	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Q213E(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TTGTATTGCTGAGAAGGAGGC	0.408			T	"""SSX1,  SSX2"""	synovial sarcoma																																	uc002kvm.2				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	SSX1| SSX2		synovial sarcoma	SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	1	Substitution - Missense(1)		lung(1)	soft_tissue(1883)|ovary(1)	1884						c.(637-639)CAG>GAG		synovial sarcoma translocation, chromosome 18							166.0	139.0	148.0					18																	23619391		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23619391G>C	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.637C>G	18.37:g.23619391G>C	ENSP00000414516:p.Gln213Glu					SS18_uc002kvn.2_Missense_Mutation_p.Q213E|SS18_uc010xbf.1_Missense_Mutation_p.Q131E|SS18_uc010xbg.1_Missense_Mutation_p.Q161E|SS18_uc010xbh.1_Missense_Mutation_p.Q161E|SS18_uc010xbi.1_Missense_Mutation_p.Q190E|SS18_uc010dlz.1_Missense_Mutation_p.Q161E	p.Q213E	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			6	715	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		213			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.637C>G	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489882	0.84962	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.32023	1.51;1.48;1.5;1.47;1.5	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.54323	1.7	0.80722	D	1	B;B;P	0.50369	0.21;0.21;0.934	B;B;P	0.44422	0.031;0.046;0.449	T	0.20371	-1.0277	10	0.52906	T	0.07	-3.3663	19.3412	0.94342	0.0:0.0:1.0:0.0	.	161;213;213	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	E	216;213;213;190;161;131;161	ENSP00000269137:Q213E;ENSP00000438066:Q190E;ENSP00000444551:Q161E;ENSP00000444647:Q131E;ENSP00000443097:Q161E	ENSP00000269137:Q213E	Q	-	1	0	SS18	21873389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.398000	0.97281	2.657000	0.90304	0.655000	0.94253	CAG		PASS	0.408	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			24	153	24	153	---	---	---	---
KATNAL2	83473	broad.mit.edu	37	18	44627345	44627345	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr18:44627345C>T	ENST00000245121.5	+	15	1564	c.1370C>T	c.(1369-1371)tCa>tTa	p.S457L	KATNAL2_ENST00000356157.7_Missense_Mutation_p.S529L	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.S457L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CAGAGATACTCAGACTGGCAA	0.488											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lco.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(1369-1371)TCA>TTA		katanin p60 subunit A-like 2							66.0	59.0	61.0					18																	44627345		2203	4300	6503	SO:0001583	missense	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44627345C>T	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.1370C>T	18.37:g.44627345C>T	ENSP00000245121:p.Ser457Leu		OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	KATNAL2_uc002lcp.3_Missense_Mutation_p.S384L	p.S457L	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN			15	1564	+			529						Missense_Mutation	SNP	ENST00000245121.5	37	c.1370C>T	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148597	0.37923	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.97870	-4.58;-4.58	5.51	1.7	0.24286	.	0.625755	0.14752	N	0.300528	D	0.92136	0.7507	N	0.11106	0.095	0.23440	N	0.997678	B	0.02656	0.0	B	0.04013	0.001	D	0.83567	0.0110	10	0.30854	T	0.27	-32.6003	10.2201	0.43192	0.0:0.6662:0.0:0.3338	.	529	Q8IYT4	KATL2_HUMAN	L	529;457	ENSP00000348478:S529L;ENSP00000245121:S457L	ENSP00000245121:S457L	S	+	2	0	KATNAL2	42881343	0.001000	0.12720	0.634000	0.29324	0.952000	0.60782	0.758000	0.26447	0.091000	0.17302	0.655000	0.94253	TCA		PASS	0.488	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		13	54	13	54	---	---	---	---
CFAP53	220136	broad.mit.edu	37	18	47787576	47787576	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr18:47787576C>G	ENST00000398545.4	-	3	448	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_145020.3	NP_659457.2												p.E111Q(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTAAAATACTCATTTTCTTCT	0.289																																						uc002lee.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(331-333)GAG>CAG		coiled-coil domain containing 11							80.0	71.0	74.0					18																	47787576		1791	4061	5852	SO:0001583	missense	220136							g.chr18:47787576C>G																												ENST00000398545.4:c.331G>C	18.37:g.47787576C>G	ENSP00000381553:p.Glu111Gln						p.E111Q	NM_145020	NP_659457	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	3	422	-			111			Potential.			Missense_Mutation	SNP	ENST00000398545.4	37	c.331G>C	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088885	0.36855	.	.	ENSG00000172361	ENST00000398545	T	0.31769	1.48	6.06	5.17	0.71159	.	0.115131	0.31784	U	0.007065	T	0.22781	0.0550	L	0.33189	0.99	0.39973	D	0.974816	B	0.31077	0.307	B	0.25405	0.06	T	0.04664	-1.0935	10	0.21540	T	0.41	-16.5366	15.2525	0.73559	0.0:0.8598:0.1402:0.0	.	111	Q96M91	CCD11_HUMAN	Q	111	ENSP00000381553:E111Q	ENSP00000381553:E111Q	E	-	1	0	CCDC11	46041574	0.161000	0.22892	0.897000	0.35233	0.790000	0.44656	0.690000	0.25451	2.880000	0.98712	0.650000	0.86243	GAG		PASS	0.289	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			4	91	4	91	---	---	---	---
ME2	4200	broad.mit.edu	37	18	48450551	48450551	+	Silent	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr18:48450551A>G	ENST00000321341.5	+	11	1412	c.1140A>G	c.(1138-1140)gcA>gcG	p.A380A	ME2_ENST00000382927.3_Silent_p.A380A	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	380					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.A380A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTGAAGATGCAGTGAATATAC	0.348																																						uc002ley.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1138-1140)GCA>GCG		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						99.0	97.0	97.0					18																	48450551		2203	4299	6502	SO:0001819	synonymous_variant	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48450551A>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1140A>G	18.37:g.48450551A>G						ME2_uc010dpd.2_Silent_p.A380A	p.A380A	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	11	1396	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	380					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Silent	SNP	ENST00000321341.5	37	c.1140A>G	CCDS11948.1																																																																																				PASS	0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		28	125	28	125	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56205344	56205344	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr18:56205344G>C	ENST00000361673.3	-	5	2288	c.2075C>G	c.(2074-2076)tCa>tGa	p.S692*	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	692						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S58*(1)|p.S692*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCCTAAGTTTGAGAAGGAAAT	0.493																																						uc002lhj.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(2074-2076)TCA>TGA		heart alpha-kinase							61.0	51.0	54.0					18																	56205344		2203	4300	6503	SO:0001587	stop_gained	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56205344G>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2075C>G	18.37:g.56205344G>C	ENSP00000354991:p.Ser692*					ALPK2_uc002lhk.1_Nonsense_Mutation_p.S23*	p.S692*	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	2289	-			692					Q6ZUX0|Q8NAT5|Q96L95	Nonsense_Mutation	SNP	ENST00000361673.3	37	c.2075C>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	38	6.885927	0.97912	.	.	ENSG00000198796	ENST00000361673	.	.	.	5.91	0.787	0.18596	.	1.042650	0.07541	N	0.913919	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.274	4.8641	0.13600	0.0819:0.4233:0.3494:0.1454	.	.	.	.	X	692	.	ENSP00000354991:S692X	S	-	2	0	ALPK2	54356324	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.097000	0.15168	0.795000	0.33922	0.655000	0.94253	TCA		PASS	0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		32	107	32	107	---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74091239	74091239	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr18:74091239G>A	ENST00000443185.2	-	4	3148	c.2831C>T	c.(2830-2832)tCg>tTg	p.S944L	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	944					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.S944L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCTATTGGCCGAGGGCTGCGC	0.682																																						uc010dqx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2830-2832)TCG>TTG		zinc finger protein 516							19.0	24.0	22.0					18																	74091239		1765	3898	5663	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091239G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2831C>T	18.37:g.74091239G>A	ENSP00000394757:p.Ser944Leu					ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	p.S944L	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	3066	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	944						Missense_Mutation	SNP	ENST00000443185.2	37	c.2831C>T		.	.	.	.	.	.	.	.	.	.	G	3.083	-0.188577	0.06299	.	.	ENSG00000101493	ENST00000443185	T	0.09911	2.93	3.58	1.79	0.24919	.	3.412620	0.00714	N	0.000841	T	0.09113	0.0225	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.27971	-1.0058	9	0.42905	T	0.14	.	5.8545	0.18712	0.2284:0.0:0.7716:0.0	.	944	Q92618	ZN516_HUMAN	L	944	ENSP00000394757:S944L	ENSP00000394757:S944L	S	-	2	0	ZNF516	72220227	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.431000	0.21444	0.520000	0.28426	0.491000	0.48974	TCG		PASS	0.682	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		9	39	9	39	---	---	---	---
PRSS57	400668	broad.mit.edu	37	19	694935	694935	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:694935C>G	ENST00000329267.7	-	2	144	c.115G>C	c.(115-117)Gag>Cag	p.E39Q		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.E39Q(2)		central_nervous_system(1)|lung(5)	6						GGGGTCACCTCGTGGCCCCCG	0.706																																						uc002lpl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(115-117)GAG>CAG		protease, serine-like 1 precursor							12.0	13.0	12.0					19																	694935		2191	4291	6482	SO:0001583	missense	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:694935C>G	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.115G>C	19.37:g.694935C>G	ENSP00000327386:p.Glu39Gln					PRSSL1_uc010xfs.1_Missense_Mutation_p.E38Q	p.E39Q	NM_214710	NP_999875	Q6UWY2	PRS57_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)	2	146	-		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	39			Peptidase S1.		B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	c.115G>C	CCDS12041.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776870	0.70107	.	.	ENSG00000185198	ENST00000329267	D	0.89485	-2.52	5.17	4.12	0.48240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41194	D	0.000923	D	0.92987	0.7768	M	0.74467	2.265	0.24037	N	0.996099	D;D	0.61697	0.99;0.99	P;D	0.68943	0.896;0.961	D	0.86463	0.1780	10	0.72032	D	0.01	.	11.1604	0.48512	0.0:0.9117:0.0:0.0883	.	38;39	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	Q	39	ENSP00000327386:E39Q	ENSP00000327386:E39Q	E	-	1	0	PRSS57	645935	0.981000	0.34729	0.100000	0.21137	0.138000	0.21146	2.889000	0.48601	1.184000	0.42957	0.485000	0.47835	GAG		PASS	0.706	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		6	0	6	0	---	---	---	---
ELANE	1991	broad.mit.edu	37	19	855618	855618	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:855618C>G	ENST00000590230.1	+	5	562	c.421C>G	c.(421-423)Cag>Gag	p.Q141E	ELANE_ENST00000263621.1_Missense_Mutation_p.Q141E			P08246	ELNE_HUMAN	elastase, neutrophil expressed	141	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)	p.Q141E(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCTGCCGGCTCAGGGACGCCG	0.692																																						uc002lqb.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(421-423)CAG>GAG		neutrophil elastase preproprotein	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						38.0	37.0	38.0					19																	855618		2198	4294	6492	SO:0001583	missense	1991	Kostmann_syndrome			cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	g.chr19:855618C>G		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.421C>G	19.37:g.855618C>G	ENSP00000466090:p.Gln141Glu						p.Q141E	NM_001972	NP_001963	P08246	ELNE_HUMAN			4	459	+			141			Peptidase S1.		P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	ENST00000590230.1	37	c.421C>G	CCDS12045.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634338	0.29068	.	.	ENSG00000197561	ENST00000263621	D	0.88124	-2.34	4.42	4.42	0.53409	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.437118	0.16843	U	0.197256	T	0.79106	0.4390	N	0.16708	0.43	0.18873	N	0.999986	P	0.46859	0.885	B	0.43123	0.409	T	0.71182	-0.4668	10	0.37606	T	0.19	.	12.8831	0.58028	0.0:1.0:0.0:0.0	.	141	P08246	ELNE_HUMAN	E	141	ENSP00000263621:Q141E	ENSP00000263621:Q141E	Q	+	1	0	ELANE	806618	0.397000	0.25270	0.169000	0.22859	0.005000	0.04900	2.468000	0.45102	2.189000	0.69895	0.462000	0.41574	CAG		PASS	0.692	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		19	39	19	39	---	---	---	---
CNN2	1265	broad.mit.edu	37	19	1036486	1036486	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:1036486C>G	ENST00000263097.4	+	6	942	c.579C>G	c.(577-579)ccC>ccG	p.P193P	CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Silent_p.P214P|CNN2_ENST00000565096.2_Silent_p.P182P|CNN2_ENST00000348419.3_Silent_p.P154P|AC011558.5_ENST00000585757.1_RNA	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	193				RRHLYDPKNHILPPMD -> AGISMTPRTISCPPWT (in Ref. 6; BAA20887). {ECO:0000305}.	actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)	p.P193P(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTATGACCCCAAGAACCATA	0.627																																						uc002lqu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(577-579)CCC>CCG		calponin 2 isoform a							74.0	71.0	72.0					19																	1036486		2203	4300	6503	SO:0001819	synonymous_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1036486C>G	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.579C>G	19.37:g.1036486C>G						CNN2_uc002lqt.1_Silent_p.P154P|CNN2_uc010drz.1_Silent_p.P45P|CNN2_uc002lqv.2_Silent_p.P154P|CNN2_uc010xgb.1_Silent_p.P182P|CNN2_uc010xgc.1_Silent_p.P214P	p.P193P	NM_004368	NP_004359	Q99439	CNN2_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)	6	942	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	193	RRHLYDPKNHILPPMD -> AGISMTPRTISCPPWT (in Ref. 4; BAA20887).				A5D8U8|A6NFI4|D6W5X9|Q92578	Silent	SNP	ENST00000263097.4	37	c.579C>G	CCDS12053.1																																																																																				PASS	0.627	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		14	101	14	101	---	---	---	---
MIDN	90007	broad.mit.edu	37	19	1255491	1255491	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:1255491C>T	ENST00000591446.2	+	6	1336	c.927C>T	c.(925-927)atC>atT	p.I309I	MIDN_ENST00000300952.2_Silent_p.I309I			Q504T8	MIDN_HUMAN	midnolin	309						cytosol (GO:0005829)|nucleolus (GO:0005730)		p.I309I(1)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGCAGATCCTGAACGACC	0.721																																						uc002lrp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(925-927)ATC>ATT		midnolin							36.0	29.0	31.0					19																	1255491		2197	4296	6493	SO:0001819	synonymous_variant	90007					nucleolus		g.chr19:1255491C>T	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.927C>T	19.37:g.1255491C>T							p.I309I	NM_177401	NP_796375	Q504T8	MIDN_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)	7	1442	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	309					Q96BW8	Silent	SNP	ENST00000591446.2	37	c.927C>T	CCDS32864.1																																																																																				PASS	0.721	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			5	15	5	15	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6754983	6754983	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:6754983G>T	ENST00000245908.6	-	5	1109	c.840C>A	c.(838-840)ttC>ttA	p.F280L	SH2D3A_ENST00000437152.3_Missense_Mutation_p.F158L|SH2D3A_ENST00000599563.1_5'Flank	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	280					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.F280L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CATGGGGGCAGAAAGAGATCT	0.612																																						uc002mft.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(838-840)TTC>TTA		SH2 domain containing 3A							128.0	154.0	145.0					19																	6754983		2202	4300	6502	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6754983G>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.840C>A	19.37:g.6754983G>T	ENSP00000245908:p.Phe280Leu					SH2D3A_uc010xjg.1_Missense_Mutation_p.F158L	p.F280L	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN			5	1034	-			280					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.840C>A	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	G	8.127	0.782152	0.16189	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.26810	1.71;1.71	4.79	-2.32	0.06745	Ras guanine nucleotide exchange factor, domain (1);	0.165334	0.28809	N	0.014076	T	0.18130	0.0435	L	0.51422	1.61	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.11329	0.002;0.006	T	0.14643	-1.0465	10	0.54805	T	0.06	-19.7598	5.8365	0.18609	0.4604:0.1348:0.4048:0.0	.	158;280	B4DRS7;Q9BRG2	.;SH23A_HUMAN	L	280;158	ENSP00000245908:F280L;ENSP00000393303:F158L	ENSP00000245908:F280L	F	-	3	2	SH2D3A	6705983	0.048000	0.20356	0.027000	0.17364	0.182000	0.23217	0.161000	0.16481	-0.329000	0.08527	0.462000	0.41574	TTC		PASS	0.612	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		89	325	89	325	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7141796	7141796	+	Silent	SNP	C	C	G	rs79490496		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:7141796C>G	ENST00000302850.5	-	13	2716	c.2574G>C	c.(2572-2574)acG>acC	p.T858T	INSR_ENST00000341500.5_Silent_p.T846T	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	858	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> A (in NIDDM; dbSNP:rs182552223). {ECO:0000269|PubMed:7657032}.		activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.T858T(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AGATTTCATGCGTCACAGGGC	0.512																																						uc002mgd.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(2572-2574)ACG>ACC		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						175.0	128.0	144.0					19																	7141796		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7141796C>G	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2574G>C	19.37:g.7141796C>G						INSR_uc002mge.1_Silent_p.T846T	p.T858T	NM_000208	NP_000199	P06213	INSR_HUMAN			13	2683	-			858		T -> A (in NIDDM).	Fibronectin type-III 3.|Extracellular (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.2574G>C	CCDS12176.1																																																																																				PASS	0.512	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			13	59	13	59	---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8530377	8530377	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:8530377G>T	ENST00000325495.4	+	6	649	c.608G>T	c.(607-609)gGa>gTa	p.G203V	HNRNPM_ENST00000348943.3_Missense_Mutation_p.G164V	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	203					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.G203V(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGAAGACTTGGAAGCACAGTA	0.378																																						uc010dwe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(607-609)GGA>GTA		heterogeneous nuclear ribonucleoprotein M							143.0	131.0	135.0					19																	8530377		2203	4300	6503	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8530377G>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.608G>T	19.37:g.8530377G>T	ENSP00000325376:p.Gly203Val					HNRNPM_uc010dwc.1_Missense_Mutation_p.G203V|HNRNPM_uc010xke.1_Missense_Mutation_p.G164V|HNRNPM_uc010dwd.2_Missense_Mutation_p.G164V|HNRNPM_uc002mka.2_Missense_Mutation_p.G83V	p.G203V	NM_005968	NP_005959	P52272	HNRPM_HUMAN			6	688	+			203					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.608G>T	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435792	0.83885	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.36520	1.25;3.28	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	L	0.60455	1.87	0.80722	D	1	P;B;D;P;B	0.61080	0.536;0.089;0.989;0.893;0.339	B;B;D;P;B	0.69142	0.257;0.037;0.962;0.502;0.151	T	0.55412	-0.8145	10	0.54805	T	0.06	.	18.4075	0.90541	0.0:0.0:1.0:0.0	.	43;203;164;164;103	Q7KYM9;P52272;P52272-2;B4DEG4;Q59ES8	.;HNRPM_HUMAN;.;.;.	V	203;164;103	ENSP00000325376:G203V;ENSP00000325732:G164V	ENSP00000325376:G203V	G	+	2	0	HNRNPM	8436377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.705000	0.98719	2.693000	0.91896	0.585000	0.79938	GGA		PASS	0.378	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			19	337	19	337	---	---	---	---
ADAMTS10	81794	broad.mit.edu	37	19	8651080	8651080	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:8651080G>A	ENST00000597188.1	-	22	2856	c.2586C>T	c.(2584-2586)gcC>gcT	p.A862A	ADAMTS10_ENST00000270328.4_Silent_p.A862A|ADAMTS10_ENST00000595838.1_Silent_p.A349A	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	862	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A862A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGTAGTGGGGGGCGACCGCGG	0.692											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mkj.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|skin(2)	4						c.(2584-2586)GCC>GCT		ADAM metallopeptidase with thrombospondin type 1							26.0	25.0	25.0					19																	8651080		2202	4299	6501	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8651080G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2586C>T	19.37:g.8651080G>A			OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	ADAMTS10_uc002mki.1_Silent_p.A349A|ADAMTS10_uc002mkk.1_Silent_p.A494A	p.A862A	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			22	2860	-			862			TSP type-1 2.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.2586C>T	CCDS12206.1																																																																																				PASS	0.692	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		7	75	7	75	---	---	---	---
ZNF558	148156	broad.mit.edu	37	19	8922163	8922163	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:8922163G>C	ENST00000601372.1	-	10	1714	c.1003C>G	c.(1003-1005)Ctt>Gtt	p.L335V	ZNF558_ENST00000301475.1_Missense_Mutation_p.L335V|ZNF558_ENST00000444186.2_Missense_Mutation_p.L264V			Q96NG5	ZN558_HUMAN	zinc finger protein 558	335					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.L335V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TGCACAGTAAGAGAAAAGCTA	0.433																																						uc002mkn.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1003-1005)CTT>GTT		zinc finger protein 558							89.0	86.0	87.0					19																	8922163		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8922163G>C	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.1003C>G	19.37:g.8922163G>C	ENSP00000471277:p.Leu335Val					ZNF558_uc010xkh.1_Missense_Mutation_p.L264V|ZNF558_uc010dwg.1_Missense_Mutation_p.L335V	p.L335V	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN			6	1233	-			335			C2H2-type 7.		A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.1003C>G	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008341	0.54361	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.52983	0.64;0.64	4.8	3.74	0.42951	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37178	N	0.002204	T	0.65026	0.2652	M	0.82193	2.58	0.09310	N	1	D	0.57899	0.981	P	0.61070	0.883	T	0.58120	-0.7692	10	0.66056	D	0.02	.	11.1453	0.48426	0.0939:0.0:0.9061:0.0	.	335	Q96NG5	ZN558_HUMAN	V	335;264	ENSP00000301475:L335V;ENSP00000410703:L264V	ENSP00000301475:L335V	L	-	1	0	ZNF558	8783163	0.991000	0.36638	0.968000	0.41197	0.976000	0.68499	2.455000	0.44988	2.483000	0.83821	0.591000	0.81541	CTT		PASS	0.433	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		27	440	27	440	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9002184	9002184	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9002184G>A	ENST00000397910.4	-	52	40523	c.40320C>T	c.(40318-40320)ttC>ttT	p.F13440F	MUC16_ENST00000380951.5_Silent_p.F81F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13442					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.F13440F(1)|p.F125F(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						TCTGATGGGTGAAACCTGCAT	0.507																																						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.(40318-40320)TTC>TTT		mucin 16							96.0	84.0	88.0					19																	9002184		1963	4148	6111	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9002184G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40320C>T	19.37:g.9002184G>A						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.F257F|MUC16_uc010xki.1_RNA	p.F13440F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			52	40524	-			13442			Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.40320C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	4.876	0.162896	0.09287	.	.	ENSG00000181143	ENST00000542240	.	.	.	1.38	-1.38	0.09027	.	.	.	.	.	T	0.28632	0.0709	.	.	.	.	.	.	.	.	.	.	.	.	T	0.35847	-0.9772	3	.	.	.	.	4.3415	0.11112	0.4195:0.0:0.5805:0.0	.	.	.	.	L	280	.	.	S	-	2	0	MUC16	8863184	0.517000	0.26226	0.141000	0.22245	0.225000	0.24961	0.188000	0.17018	-0.249000	0.09569	0.274000	0.19336	TCA		PASS	0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	69	4	69	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9009662	9009662	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9009662G>A	ENST00000397910.4	-	39	39267	c.39064C>T	c.(39064-39066)Ctg>Ttg	p.L13022L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13024	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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.L174L(1)|p.L13022L(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						CCATACTGCAGATTGGTGATG	0.537																																						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.(39064-39066)CTG>TTG		mucin 16							185.0	150.0	162.0					19																	9009662		1983	4152	6135	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9009662G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39064C>T	19.37:g.9009662G>A						MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	p.L13022L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			39	39268	-			13024			Extracellular (Potential).|SEA 7.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39064C>T	CCDS54212.1																																																																																				PASS	0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	378	31	378	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9048215	9048215	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9048215G>C	ENST00000397910.4	-	5	33619	c.33416C>G	c.(33415-33417)tCa>tGa	p.S11139*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11141	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.S11139*(1)|p.S6772*(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						TAGAACAGCTGAGCTGGCTTC	0.468																																						uc002mkp.2																			2	Substitution - Nonsense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(33415-33417)TCA>TGA		mucin 16							93.0	83.0	86.0					19																	9048215		1907	4140	6047	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048215G>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.33416C>G	19.37:g.9048215G>C	ENSP00000381008:p.Ser11139*						p.S11139*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	33620	-			11141			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.33416C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	61	51.375530	0.99988	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.37	1.11	0.20524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.8234	0.18540	0.2578:0.0:0.7422:0.0	.	.	.	.	X	11139	.	ENSP00000381008:S11139X	S	-	2	0	MUC16	8909215	0.001000	0.12720	0.003000	0.11579	0.032000	0.12392	0.547000	0.23299	0.390000	0.25115	0.479000	0.44913	TCA		PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	219	14	219	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9048822	9048822	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9048822G>C	ENST00000397910.4	-	5	33012	c.32809C>G	c.(32809-32811)Ctg>Gtg	p.L10937V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10939	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.L6570V(1)|p.L10937V(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						CTAGTGACCAGAGAGGTCACC	0.498																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(32809-32811)CTG>GTG		mucin 16							118.0	108.0	111.0					19																	9048822		1910	4113	6023	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048822G>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.32809C>G	19.37:g.9048822G>C	ENSP00000381008:p.Leu10937Val						p.L10937V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	33013	-			10939			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32809C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.160	0.397682	0.11696	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	3.49	-4.31	0.03698	.	.	.	.	.	T	0.03390	0.0098	M	0.63843	1.955	.	.	.	B	0.30281	0.275	B	0.30029	0.11	T	0.34129	-0.9841	8	0.87932	D	0	.	4.4291	0.11518	0.5172:0.0:0.3194:0.1633	.	10937	B5ME49	.	V	10937	ENSP00000381008:L10937V	ENSP00000381008:L10937V	L	-	1	2	MUC16	8909822	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.083000	0.11286	-0.794000	0.04468	0.586000	0.80456	CTG		PASS	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		32	445	32	445	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064726	9064726	+	Missense_Mutation	SNP	C	C	A	rs184839507		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9064726C>A	ENST00000397910.4	-	3	22923	c.22720G>T	c.(22720-22722)Gtc>Ttc	p.V7574F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7576	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.V7574F(2)|p.V3207F(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						GTCCTGGAGACCTCAGTAGTA	0.507																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(22720-22722)GTC>TTC		mucin 16							133.0	128.0	130.0					19																	9064726		2028	4176	6204	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064726C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22720G>T	19.37:g.9064726C>A	ENSP00000381008:p.Val7574Phe						p.V7574F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22924	-			7576			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22720G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	5.969	0.362693	0.11296	.	.	ENSG00000181143	ENST00000397910	T	0.02837	4.14	2.83	-5.66	0.02451	.	.	.	.	.	T	0.02727	0.0082	L	0.27053	0.805	.	.	.	D	0.53151	0.958	P	0.47744	0.556	T	0.19614	-1.0300	8	0.87932	D	0	.	5.3927	0.16253	0.0:0.198:0.4599:0.3421	.	7574	B5ME49	.	F	7574	ENSP00000381008:V7574F	ENSP00000381008:V7574F	V	-	1	0	MUC16	8925726	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.939000	0.01545	-1.287000	0.02381	0.508000	0.49915	GTC		PASS	0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	446	24	446	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072073	9072073	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9072073C>G	ENST00000397910.4	-	3	15576	c.15373G>C	c.(15373-15375)Gag>Cag	p.E5125Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5127	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.E5125*(4)|p.E5125Q(2)|p.E758*(2)|p.E758Q(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						ACATTGGTCTCTTCTGTGTTT	0.438																																						uc002mkp.2																			9	Substitution - Nonsense(6)|Substitution - Missense(3)		lung(9)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15373-15375)GAG>CAG		mucin 16							145.0	138.0	140.0					19																	9072073		1981	4167	6148	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072073C>G	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.15373G>C	19.37:g.9072073C>G	ENSP00000381008:p.Glu5125Gln						p.E5125Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15577	-			5127			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15373G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.384	-0.341310	0.05243	.	.	ENSG00000181143	ENST00000397910	T	0.21191	2.02	1.71	0.639	0.17747	.	.	.	.	.	T	0.09992	0.0245	N	0.19112	0.55	.	.	.	P	0.39809	0.689	B	0.32022	0.139	T	0.18524	-1.0334	8	0.87932	D	0	.	4.1741	0.10343	0.0:0.7805:0.0:0.2195	.	5125	B5ME49	.	Q	5125	ENSP00000381008:E5125Q	ENSP00000381008:E5125Q	E	-	1	0	MUC16	8933073	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-0.291000	0.08343	0.302000	0.22762	0.109000	0.15622	GAG		PASS	0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		42	480	42	480	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9085379	9085379	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9085379G>C	ENST00000397910.4	-	1	6639	c.6436C>G	c.(6436-6438)Ctt>Gtt	p.L2146V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2146	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.L2146V(2)		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						GCCATTGGAAGAGGGACTTCA	0.498																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6436-6438)CTT>GTT		mucin 16							73.0	71.0	72.0					19																	9085379		1912	4127	6039	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085379G>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.6436C>G	19.37:g.9085379G>C	ENSP00000381008:p.Leu2146Val						p.L2146V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6640	-			2146			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6436C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.023	-1.405557	0.01155	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.31655	0.334	B	0.23150	0.044	T	0.45071	-0.9286	7	0.87932	D	0	.	.	.	.	.	2146	B5ME49	.	V	2146	ENSP00000381008:L2146V	ENSP00000381008:L2146V	L	-	1	0	MUC16	8946379	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.144000	0.10280	-0.671000	0.05274	-0.657000	0.03884	CTT		PASS	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		37	259	37	259	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9086274	9086274	+	Silent	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9086274G>T	ENST00000397910.4	-	1	5744	c.5541C>A	c.(5539-5541)ctC>ctA	p.L1847L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1847	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.L1847L(2)		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						CCCCATGGCTGAGGTCAAGTG	0.502																																						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.(5539-5541)CTC>CTA		mucin 16							94.0	91.0	92.0					19																	9086274		1986	4174	6160	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086274G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5541C>A	19.37:g.9086274G>T							p.L1847L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	5745	-			1847			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.5541C>A	CCDS54212.1																																																																																				PASS	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	201	33	201	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9087316	9087316	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9087316G>C	ENST00000397910.4	-	1	4702	c.4499C>G	c.(4498-4500)tCa>tGa	p.S1500*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1500	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.S1500*(2)		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						CTCTGACTTTGAAAGTTCATG	0.428																																						uc002mkp.2																			2	Substitution - Nonsense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4498-4500)TCA>TGA		mucin 16							230.0	215.0	219.0					19																	9087316		1926	4135	6061	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087316G>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.4499C>G	19.37:g.9087316G>C	ENSP00000381008:p.Ser1500*						p.S1500*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4703	-			1500			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.4499C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	46	12.123752	0.99638	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.01	-0.273	0.12915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.1662	0.06536	0.3811:0.0:0.6189:0.0	.	.	.	.	X	1500	.	ENSP00000381008:S1500X	S	-	2	0	MUC16	8948316	0.069000	0.21087	0.008000	0.14137	0.948000	0.59901	0.287000	0.18920	-0.061000	0.13110	0.313000	0.20887	TCA		PASS	0.428	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		118	742	118	742	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9087418	9087418	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9087418G>C	ENST00000397910.4	-	1	4600	c.4397C>G	c.(4396-4398)aCa>aGa	p.T1466R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1466	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.T1466R(2)		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						CATTTCCTCTGTCAAACTGGT	0.473																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4396-4398)ACA>AGA		mucin 16							120.0	118.0	118.0					19																	9087418		1946	4146	6092	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087418G>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.4397C>G	19.37:g.9087418G>C	ENSP00000381008:p.Thr1466Arg						p.T1466R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4601	-			1466			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4397C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.692	-0.063417	0.07273	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.01	1.01	0.19927	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	.	.	.	D	0.69078	0.997	D	0.71184	0.972	T	0.43475	-0.9389	8	0.87932	D	0	.	5.3673	0.16121	0.0:0.0:1.0:0.0	.	1466	B5ME49	.	R	1466	ENSP00000381008:T1466R	ENSP00000381008:T1466R	T	-	2	0	MUC16	8948418	0.010000	0.17322	0.124000	0.21820	0.276000	0.26787	1.468000	0.35332	0.850000	0.35239	0.313000	0.20887	ACA		PASS	0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		66	405	66	405	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9087899	9087899	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9087899C>G	ENST00000397910.4	-	1	4119	c.3916G>C	c.(3916-3918)Gag>Cag	p.E1306Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1306	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.E1306Q(2)		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						GCTGTCATCTCAGGTGAAGAC	0.498																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3916-3918)GAG>CAG		mucin 16							135.0	131.0	132.0					19																	9087899		2040	4204	6244	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087899C>G	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.3916G>C	19.37:g.9087899C>G	ENSP00000381008:p.Glu1306Gln						p.E1306Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4120	-			1306			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3916G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.946	-0.013230	0.07727	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.48	0.415	0.16411	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	.	.	.	P	0.46020	0.871	B	0.31812	0.136	T	0.48139	-0.9061	8	0.87932	D	0	.	3.5678	0.07907	0.0:0.7406:0.0:0.2594	.	1306	B5ME49	.	Q	1306	ENSP00000381008:E1306Q	ENSP00000381008:E1306Q	E	-	1	0	MUC16	8948899	0.000000	0.05858	0.004000	0.12327	0.186000	0.23388	0.130000	0.15850	0.173000	0.19788	0.305000	0.20034	GAG		PASS	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	388	31	388	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9087904	9087904	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9087904G>A	ENST00000397910.4	-	1	4114	c.3911C>T	c.(3910-3912)tCa>tTa	p.S1304L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1304	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.S1304L(2)		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						CATCTCAGGTGAAGACCCAGA	0.493																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3910-3912)TCA>TTA		mucin 16							138.0	135.0	136.0					19																	9087904		2037	4197	6234	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087904G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3911C>T	19.37:g.9087904G>A	ENSP00000381008:p.Ser1304Leu						p.S1304L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4115	-			1304			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3911C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.453	0.451666	0.12223	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.48	1.48	0.22813	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.34931	0.192	T	0.46233	-0.9206	8	0.87932	D	0	.	6.3845	0.21554	0.0:0.0:1.0:0.0	.	1304	B5ME49	.	L	1304	ENSP00000381008:S1304L	ENSP00000381008:S1304L	S	-	2	0	MUC16	8948904	0.000000	0.05858	0.003000	0.11579	0.147000	0.21601	-0.093000	0.11111	1.109000	0.41680	0.305000	0.20034	TCA		PASS	0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		51	373	51	373	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9088081	9088081	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9088081G>C	ENST00000397910.4	-	1	3937	c.3734C>G	c.(3733-3735)tCa>tGa	p.S1245*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1245	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.S1245*(2)		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						TGTGTTTGTTGATTCAGGGTA	0.507																																						uc002mkp.2																			2	Substitution - Nonsense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3733-3735)TCA>TGA		mucin 16							386.0	380.0	382.0					19																	9088081		2129	4245	6374	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088081G>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.3734C>G	19.37:g.9088081G>C	ENSP00000381008:p.Ser1245*						p.S1245*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3938	-			1245			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.3734C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	42	9.192434	0.99096	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.38	0.183	0.15082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.5942	0.12322	0.0:0.0:0.6266:0.3734	.	.	.	.	X	1245	.	ENSP00000381008:S1245X	S	-	2	0	MUC16	8949081	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	0.191000	0.17076	0.105000	0.17753	0.305000	0.20034	TCA		PASS	0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		133	802	133	802	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9089023	9089023	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9089023G>C	ENST00000397910.4	-	1	2995	c.2792C>G	c.(2791-2793)tCa>tGa	p.S931*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	931	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.S931*(2)		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						TGAACCAGTTGAGTTTGTAAC	0.498																																						uc002mkp.2																			2	Substitution - Nonsense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2791-2793)TCA>TGA		mucin 16							105.0	105.0	105.0					19																	9089023		1962	4172	6134	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089023G>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.2792C>G	19.37:g.9089023G>C	ENSP00000381008:p.Ser931*						p.S931*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2996	-			931			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.2792C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	39	7.846813	0.98522	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9117	0.19031	0.0:0.0:1.0:0.0	.	.	.	.	X	931	.	ENSP00000381008:S931X	S	-	2	0	MUC16	8950023	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	0.143000	0.16115	0.995000	0.38917	0.205000	0.17691	TCA		PASS	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		48	238	48	238	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9089301	9089301	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9089301G>C	ENST00000397910.4	-	1	2717	c.2514C>G	c.(2512-2514)ctC>ctG	p.L838L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	838	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.L838L(2)		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						TTGGGAGGCTGAGAGTGCTAG	0.473																																						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.(2512-2514)CTC>CTG		mucin 16							165.0	157.0	160.0					19																	9089301		1990	4172	6162	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089301G>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.2514C>G	19.37:g.9089301G>C							p.L838L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2718	-			838			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2514C>G	CCDS54212.1																																																																																				PASS	0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		88	462	88	462	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9089422	9089422	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9089422G>A	ENST00000397910.4	-	1	2596	c.2393C>T	c.(2392-2394)tCa>tTa	p.S798L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	798	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.S798L(2)		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						CTCTTCCCCTGATGGAGATGG	0.522																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2392-2394)TCA>TTA		mucin 16							220.0	210.0	213.0					19																	9089422		2030	4188	6218	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089422G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2393C>T	19.37:g.9089422G>A	ENSP00000381008:p.Ser798Leu						p.S798L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2597	-			798			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2393C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.492	-0.103693	0.06967	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.56	0.416	0.16416	.	.	.	.	.	T	0.01489	0.0048	N	0.14661	0.345	.	.	.	P	0.41041	0.736	B	0.28916	0.096	T	0.46345	-0.9198	8	0.87932	D	0	.	5.0109	0.14312	0.0:0.0:0.6508:0.3492	.	798	B5ME49	.	L	798	ENSP00000381008:S798L	ENSP00000381008:S798L	S	-	2	0	MUC16	8950422	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	1.043000	0.30316	0.195000	0.20347	0.205000	0.17691	TCA		PASS	0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	798	14	798	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9090194	9090194	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9090194G>C	ENST00000397910.4	-	1	1824	c.1621C>G	c.(1621-1623)Cct>Gct	p.P541A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	541	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.P541A(2)		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						TTCATGCTAGGACTTGTCTCC	0.532																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1621-1623)CCT>GCT		mucin 16							87.0	85.0	85.0					19																	9090194		2073	4219	6292	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090194G>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.1621C>G	19.37:g.9090194G>C	ENSP00000381008:p.Pro541Ala						p.P541A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	1825	-			541			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1621C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.836	0.523499	0.13066	.	.	ENSG00000181143	ENST00000397910	T	0.03094	4.05	1.45	0.379	0.16213	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	.	.	.	B	0.27656	0.184	B	0.22152	0.038	T	0.41324	-0.9515	8	0.87932	D	0	.	3.7021	0.08386	0.252:0.0:0.748:0.0	.	541	B5ME49	.	A	541	ENSP00000381008:P541A	ENSP00000381008:P541A	P	-	1	0	MUC16	8951194	0.000000	0.05858	0.003000	0.11579	0.738000	0.42128	-0.947000	0.03901	0.171000	0.19730	0.313000	0.20887	CCT		PASS	0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	249	24	249	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091309	9091309	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9091309G>A	ENST00000397910.4	-	1	709	c.506C>T	c.(505-507)tCa>tTa	p.S169L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	169	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.S169L(2)		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						TTCAGTTGTTGAGGTCTCAGT	0.443																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(505-507)TCA>TTA		mucin 16							102.0	101.0	102.0					19																	9091309		2043	4203	6246	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091309G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.506C>T	19.37:g.9091309G>A	ENSP00000381008:p.Ser169Leu						p.S169L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	710	-			169			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.506C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.984	0.751889	0.15778	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.49	1.49	0.22878	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	P	0.35481	0.504	B	0.26614	0.071	T	0.38735	-0.9647	8	0.87932	D	0	.	6.4203	0.21740	0.0:0.0:1.0:0.0	.	169	B5ME49	.	L	169	ENSP00000381008:S169L	ENSP00000381008:S169L	S	-	2	0	MUC16	8952309	0.001000	0.12720	0.003000	0.11579	0.406000	0.30931	0.820000	0.27323	1.132000	0.42129	0.313000	0.20887	TCA		PASS	0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	329	17	329	---	---	---	---
OR7D2	162998	broad.mit.edu	37	19	9296535	9296535	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9296535C>G	ENST00000344248.2	+	1	257	c.78C>G	c.(76-78)ttC>ttG	p.F26L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	26					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F26L(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TACAGCCGTTCATATTTGGGC	0.493																																						uc002mkz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(76-78)TTC>TTG		olfactory receptor, family 7, subfamily D,							83.0	80.0	81.0					19																	9296535		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296535C>G	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.78C>G	19.37:g.9296535C>G	ENSP00000345563:p.Phe26Leu						p.F26L	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			1	266	+			26			Helical; Name=1; (Potential).		Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.78C>G	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.890656	0.00527	.	.	ENSG00000188000	ENST00000344248	T	0.00048	8.82	2.21	-0.361	0.12564	.	1.295120	0.05778	N	0.608094	T	0.00039	0.0001	N	0.00996	-1.065	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12426	-1.0548	10	0.02654	T	1	.	5.4587	0.16604	0.0:0.4846:0.3704:0.145	.	26	Q96RA2	OR7D2_HUMAN	L	26	ENSP00000345563:F26L	ENSP00000345563:F26L	F	+	3	2	OR7D2	9157535	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-2.781000	0.00773	0.005000	0.14708	-0.424000	0.05967	TTC		PASS	0.493	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			7	220	7	220	---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9763789	9763789	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9763789G>C	ENST00000448622.1	-	6	1279	c.1117C>G	c.(1117-1119)Cag>Gag	p.Q373E	ZNF562_ENST00000541032.1_Missense_Mutation_p.Q336E|ZNF562_ENST00000453372.2_Missense_Mutation_p.Q373E|ZNF562_ENST00000537617.1_Missense_Mutation_p.Q257E|ZNF562_ENST00000590155.1_Missense_Mutation_p.Q372E|ZNF562_ENST00000293648.4_Missense_Mutation_p.Q301E|ZNF562_ENST00000453792.2_Missense_Mutation_p.Q304E	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	373					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.Q373E(1)|p.Q301E(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCTTACACTGATAGGGTTTC	0.423																																						uc010xks.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1117-1119)CAG>GAG		zinc finger protein 562 isoform a							139.0	130.0	133.0					19																	9763789		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9763789G>C	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1117C>G	19.37:g.9763789G>C	ENSP00000411784:p.Gln373Glu					ZNF562_uc002mly.2_Missense_Mutation_p.Q373E|ZNF562_uc002mlx.2_Missense_Mutation_p.Q301E|ZNF562_uc010xkt.1_Missense_Mutation_p.Q336E|ZNF562_uc010xku.1_Missense_Mutation_p.Q304E|ZNF562_uc010xkv.1_Missense_Mutation_p.Q372E|ZNF562_uc010xkw.1_Missense_Mutation_p.Q257E	p.Q373E	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN			6	1280	-			373			C2H2-type 7.		Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.1117C>G	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	G	0.775	-0.764229	0.02996	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	1.67	-3.33	0.04958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.25144	0.715	0.09310	N	1	P;P;B;B;B	0.41784	0.762;0.568;0.0;0.004;0.007	B;B;B;B;B	0.32624	0.132;0.149;0.001;0.004;0.013	T	0.31223	-0.9951	9	0.02654	T	1	.	4.2048	0.10483	0.0:0.2356:0.2972:0.4672	.	257;372;336;373;301	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	E	373;373;301;336;304;257	ENSP00000410734:Q373E;ENSP00000411784:Q373E;ENSP00000293648:Q301E;ENSP00000442614:Q336E;ENSP00000440451:Q304E;ENSP00000445816:Q257E	ENSP00000293648:Q301E	Q	-	1	0	ZNF562	9624789	0.000000	0.05858	0.000000	0.03702	0.949000	0.60115	-10.331000	0.00007	-1.084000	0.03092	0.313000	0.20887	CAG		PASS	0.423	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		25	671	25	671	---	---	---	---
OLFM2	93145	broad.mit.edu	37	19	9965171	9965171	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:9965171C>T	ENST00000264833.4	-	6	1241	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	AC008752.3_ENST00000582439.1_RNA|OLFM2_ENST00000590841.1_Silent_p.P274P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	352	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.P352P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGGTGTGCGGGTCCAGCC	0.642																																						uc002mmp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1054-1056)CCG>CCA		olfactomedin 2 precursor							71.0	67.0	69.0					19																	9965171		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9965171C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1056G>A	19.37:g.9965171C>T						OLFM2_uc002mmo.2_Silent_p.P274P	p.P352P	NM_058164	NP_477512	O95897	NOE2_HUMAN			6	1084	-			352			Olfactomedin-like.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.1056G>A	CCDS12221.1																																																																																				PASS	0.642	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			6	284	6	284	---	---	---	---
P2RY11	5032	broad.mit.edu	37	19	10224736	10224736	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:10224736G>C	ENST00000321826.4	+	2	631	c.447G>C	c.(445-447)gtG>gtC	p.V149V	PPAN_ENST00000556468.1_Silent_p.V569V|PPAN-P2RY11_ENST00000393796.4_Silent_p.V569V|PPAN-P2RY11_ENST00000428358.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	149					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)	p.V149V(1)|p.V569V(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCTGGGCCGTGAGCGCTGCCG	0.682																																						uc002mna.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1705-1707)GTG>GTC		PPAN-P2RY11 protein							44.0	41.0	42.0					19																	10224736		2203	4300	6503	SO:0001819	synonymous_variant	692312				RNA splicing	nucleolus	protein binding	g.chr19:10224736G>C	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.447G>C	19.37:g.10224736G>C						PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Silent_p.V149V	p.V569V	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	1707	+			Error:Variant_position_missing_in_Q9NQ55_after_alignment					B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.1707G>C	CCDS12226.1																																																																																				PASS	0.682	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		16	95	16	95	---	---	---	---
ICAM1	3383	broad.mit.edu	37	19	10395132	10395132	+	Missense_Mutation	SNP	G	G	A	rs143008699		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:10395132G>A	ENST00000264832.3	+	5	1304	c.979G>A	c.(979-981)Gag>Aag	p.E327K	ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.E105K|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	327	Ig-like C2-type 4.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.E327K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	AGAAGGGACCGAGGTGACAGT	0.642																																						uc002mnq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(979-981)GAG>AAG		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)	G	LYS/GLU	1,4405		0,1,2202	58.0	67.0	64.0		979	-4.1	0.0	19	dbSNP_134	64	0,8582		0,0,4291	no	missense	ICAM1	NM_000201.2	56	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	benign	327/533	10395132	1,12987	2203	4291	6494	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395132G>A		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.979G>A	19.37:g.10395132G>A	ENSP00000264832:p.Glu327Lys					ICAM1_uc010xle.1_Missense_Mutation_p.E105K|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	p.E327K	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		5	1298	+			327			Ig-like C2-type 4.|Extracellular (Potential).		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.979G>A	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505815	0.44558	2.27E-4	0.0	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.12147	2.71;2.71	4.1	-4.1	0.03940	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	5.868750	0.00678	N	0.000660	T	0.06781	0.0173	N	0.19112	0.55	0.09310	N	1	P;P	0.43094	0.799;0.531	B;B	0.37047	0.118;0.24	T	0.33828	-0.9853	10	0.06757	T	0.87	0.0963	6.7994	0.23742	0.2121:0.5435:0.2445:0.0	.	105;327	E7ESS4;P05362	.;ICAM1_HUMAN	K	327;105	ENSP00000264832:E327K;ENSP00000413124:E105K	ENSP00000264832:E327K	E	+	1	0	ICAM1	10256132	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	-0.458000	0.06737	-0.230000	0.09840	0.407000	0.27541	GAG		PASS	0.642	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			23	333	23	333	---	---	---	---
ICAM5	7087	broad.mit.edu	37	19	10403472	10403472	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:10403472C>G	ENST00000221980.4	+	5	1209	c.1146C>G	c.(1144-1146)ttC>ttG	p.F382L		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	382	Ig-like C2-type 4.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.F382L(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCAGCTTCTTCTGCGACGCCA	0.622																																						uc002mnu.3																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1144-1146)TTC>TTG		intercellular adhesion molecule 5 precursor							51.0	56.0	54.0					19																	10403472		2203	4300	6503	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10403472C>G	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1146C>G	19.37:g.10403472C>G	ENSP00000221980:p.Phe382Leu					ICAM5_uc002mnv.3_Missense_Mutation_p.F257L	p.F382L	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		5	1211	+			382			Extracellular (Potential).|Ig-like C2-type 4.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1146C>G	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602578	0.28534	.	.	ENSG00000105376	ENST00000221980	T	0.12672	2.66	5.46	1.92	0.25849	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.654924	0.14619	N	0.308520	T	0.14442	0.0349	M	0.81682	2.555	0.33285	D	0.562714	B	0.02656	0.0	B	0.06405	0.002	T	0.15263	-1.0443	10	0.19147	T	0.46	-4.8887	3.1567	0.06506	0.1777:0.5482:0.1722:0.1019	.	382	Q9UMF0	ICAM5_HUMAN	L	382	ENSP00000221980:F382L	ENSP00000221980:F382L	F	+	3	2	ICAM5	10264472	0.021000	0.18746	0.992000	0.48379	0.179000	0.23085	-0.090000	0.11163	0.177000	0.19895	0.561000	0.74099	TTC		PASS	0.622	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		19	181	19	181	---	---	---	---
ATG4D	84971	broad.mit.edu	37	19	10657529	10657529	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:10657529G>A	ENST00000309469.4	+	4	681	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	170					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.E170K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GACATGGGCCGAGGGCATGGG	0.647																																						uc002mov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)GAG>AAG		APG4 autophagy 4 homolog D							40.0	36.0	37.0					19																	10657529		2178	4250	6428	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10657529G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.508G>A	19.37:g.10657529G>A	ENSP00000311318:p.Glu170Lys					ATG4D_uc010xlg.1_Missense_Mutation_p.E193K|ATG4D_uc010xlh.1_Missense_Mutation_p.E107K|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron	p.E170K	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		4	628	+			170					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.508G>A	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977443	0.53720	.	.	ENSG00000130734	ENST00000309469	T	0.41400	1.0	4.82	0.0224	0.14133	.	0.488977	0.21278	N	0.077190	T	0.25121	0.0610	L	0.33137	0.985	0.09310	N	0.999999	B;P;B	0.51240	0.069;0.943;0.02	B;B;B	0.43838	0.045;0.433;0.027	T	0.29150	-1.0021	10	0.09338	T	0.73	-21.3698	6.1813	0.20472	0.2588:0.14:0.6013:0.0	.	107;193;170	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	K	170	ENSP00000311318:E170K	ENSP00000311318:E170K	E	+	1	0	ATG4D	10518529	0.700000	0.27796	0.020000	0.16555	0.394000	0.30568	0.919000	0.28692	0.169000	0.19679	0.561000	0.74099	GAG		PASS	0.647	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		13	198	13	198	---	---	---	---
YIPF2	78992	broad.mit.edu	37	19	11034586	11034586	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:11034586C>G	ENST00000586748.1	-	7	746	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	YIPF2_ENST00000590329.1_Missense_Mutation_p.E153Q|YIPF2_ENST00000253031.2_Missense_Mutation_p.E192Q			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	192						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.E192Q(1)		cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCCATGCGCTCCTGGACACCC	0.647																																						uc002mqb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(574-576)GAG>CAG		Yip1 domain family, member 2							67.0	66.0	67.0					19																	11034586		2202	4299	6501	SO:0001583	missense	78992					integral to membrane|transport vesicle		g.chr19:11034586C>G	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.574G>C	19.37:g.11034586C>G	ENSP00000466055:p.Glu192Gln					YIPF2_uc002mqc.2_Missense_Mutation_p.E192Q	p.E192Q	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN			7	698	-			192			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000586748.1	37	c.574G>C	CCDS12251.1	.	.	.	.	.	.	.	.	.	.	C	7.631	0.678811	0.14841	.	.	ENSG00000130733	ENST00000253031	.	.	.	5.62	4.58	0.56647	Yip1 domain (1);	0.184739	0.51477	D	0.000083	T	0.46386	0.1390	L	0.45137	1.4	0.29087	N	0.88231	D	0.57257	0.979	P	0.60236	0.871	T	0.33803	-0.9854	9	0.12103	T	0.63	.	9.962	0.41701	0.0:0.8419:0.0:0.1581	.	192	Q9BWQ6	YIPF2_HUMAN	Q	192	.	ENSP00000253031:E192Q	E	-	1	0	YIPF2	10895586	0.000000	0.05858	0.631000	0.29282	0.107000	0.19398	0.445000	0.21677	1.370000	0.46153	0.563000	0.77884	GAG		PASS	0.647	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		4	58	4	58	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11144055	11144055	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:11144055G>C	ENST00000429416.3	+	27	3917	c.3636G>C	c.(3634-3636)gaG>gaC	p.E1212D	SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1212D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1212D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1212D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1212D|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E1212D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1212D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1212D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1212D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1212	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E1212D(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGTGGAGGAGAAGATCCTAG	0.632			"""F, N, Mis"""		NSCLC																																	uc002mqf.3				Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - Missense(2)|Unknown(1)		lung(3)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3634-3636)GAG>GAC		SWI/SNF-related matrix-associated							110.0	107.0	108.0					19																	11144055		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144055G>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3636G>C	19.37:g.11144055G>C	ENSP00000395654:p.Glu1212Asp					SMARCA4_uc010dxp.2_Missense_Mutation_p.E1212D|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1212D|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1212D|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1212D|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1212D|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1212D|SMARCA4_uc010dxt.1_Missense_Mutation_p.E432D|SMARCA4_uc002mqh.3_Missense_Mutation_p.E335D|SMARCA4_uc002mqi.1_Missense_Mutation_p.E415D	p.E1212D	NM_003072	NP_003063	P51532	SMCA4_HUMAN			26	3920	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1212			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3636G>C	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589093	0.66105	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.138816	0.49305	D	0.000141	D	0.88213	0.6376	M	0.83692	2.655	0.50813	D	0.999891	D;D;D;P;D;D;D	0.76494	0.999;0.999;0.999;0.947;0.998;0.996;0.982	D;D;D;P;D;P;P	0.91635	0.998;0.999;0.999;0.857;0.992;0.897;0.898	D	0.88569	0.3128	10	0.87932	D	0	-27.8277	7.0833	0.25244	0.1849:0.0:0.8151:0.0	.	1212;1212;1212;1212;1212;432;1212	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	D	1212;1212;1276;1212;1212;1212;1212;1212	ENSP00000395654:E1212D;ENSP00000350720:E1212D;ENSP00000343896:E1212D;ENSP00000445036:E1212D;ENSP00000392837:E1212D;ENSP00000397783:E1212D;ENSP00000414727:E1212D	ENSP00000343896:E1212D	E	+	3	2	SMARCA4	11005055	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.793000	0.55484	2.488000	0.83962	0.558000	0.71614	GAG		PASS	0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		6	412	6	412	---	---	---	---
LDLR	3949	broad.mit.edu	37	19	11215973	11215973	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:11215973G>C	ENST00000558518.1	+	4	578	c.391G>C	c.(391-393)Gac>Cac	p.D131H	LDLR_ENST00000557933.1_Missense_Mutation_p.D131H|LDLR_ENST00000535915.1_Missense_Mutation_p.D90H|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.D131H|LDLR_ENST00000545707.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	131	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.D131H(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CTGTGACTCAGACCGGGACTG	0.642																																					GBM(18;201 575 7820 21545)	uc002mqk.3																			2	Substitution - Missense(1)|Unknown(1)		lung(2)	ovary(2)|skin(2)	4						c.(391-393)GAC>CAC		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						146.0	139.0	142.0					19																	11215973		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11215973G>C	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.391G>C	19.37:g.11215973G>C	ENSP00000454071:p.Asp131His					LDLR_uc010xlk.1_Missense_Mutation_p.D131H|LDLR_uc010xll.1_Missense_Mutation_p.D90H|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Intron	p.D131H	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	4	559	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	131			Extracellular (Potential).|LDL-receptor class A 3.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.391G>C	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560888	0.65538	.	.	ENSG00000130164	ENST00000252444;ENST00000535915	D	0.95656	-3.77	5.44	5.44	0.79542	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.089346	0.45126	D	0.000384	D	0.97176	0.9077	M	0.64170	1.965	0.80722	D	1	D;P;D	0.56968	0.978;0.896;0.96	D;D;D	0.71656	0.974;0.944;0.974	D	0.97737	1.0206	10	0.87932	D	0	.	18.0355	0.89301	0.0:0.0:1.0:0.0	.	90;143;131	B4DTQ3;Q59FQ1;P01130	.;.;LDLR_HUMAN	H	131;90	ENSP00000440520:D90H	ENSP00000252444:D131H	D	+	1	0	LDLR	11076973	1.000000	0.71417	0.061000	0.19648	0.170000	0.22686	5.624000	0.67764	2.572000	0.86782	0.591000	0.81541	GAC		PASS	0.642	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			103	723	103	723	---	---	---	---
KANK2	25959	broad.mit.edu	37	19	11280562	11280562	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:11280562G>C	ENST00000586659.1	-	12	2807	c.2493C>G	c.(2491-2493)atC>atG	p.I831M	KANK2_ENST00000355150.5_Missense_Mutation_p.I831M|KANK2_ENST00000589894.1_Missense_Mutation_p.I831M|KANK2_ENST00000589359.1_Missense_Mutation_p.I839M|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000432929.2_Missense_Mutation_p.I839M			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	831	Interaction with NCOA1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.I831M(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCGAGCACTTGATGTTCATGC	0.537																																						uc010dxv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2491-2493)ATC>ATG		ankyrin repeat domain 25 isoform 1							112.0	93.0	100.0					19																	11280562		2203	4300	6503	SO:0001583	missense	25959							g.chr19:11280562G>C	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2493C>G	19.37:g.11280562G>C	ENSP00000465650:p.Ile831Met					KANK2_uc002mqm.2_Missense_Mutation_p.I839M|KANK2_uc002mqo.3_Missense_Mutation_p.I831M|KANK2_uc002mqp.1_Missense_Mutation_p.I640M	p.I831M	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN			14	3051	-			831			ANK 5.		B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.2493C>G	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553484	0.65425	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39787	1.06;1.08	4.83	4.83	0.62350	.	0.067540	0.64402	D	0.000019	T	0.34193	0.0889	N	0.08118	0	0.40639	D	0.981924	D;P	0.61080	0.989;0.935	P;P	0.53689	0.732;0.52	T	0.23655	-1.0182	10	0.33141	T	0.24	-29.4014	13.4021	0.60889	0.0:0.0:1.0:0.0	.	831;839	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	M	839;831	ENSP00000395650:I839M;ENSP00000347276:I831M	ENSP00000347276:I831M	I	-	3	3	KANK2	11141562	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.797000	0.38804	2.218000	0.71995	0.455000	0.32223	ATC		PASS	0.537	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		10	170	10	170	---	---	---	---
RGL3	57139	broad.mit.edu	37	19	11517430	11517430	+	Missense_Mutation	SNP	C	C	T	rs373806894		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:11517430C>T	ENST00000380456.3	-	6	811	c.748G>A	c.(748-750)Gag>Aag	p.E250K	Y_RNA_ENST00000365487.1_RNA|RGL3_ENST00000393423.3_Missense_Mutation_p.E250K	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	250	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.E250K(1)|p.E14K(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TCGGCCACCTCGTCCACGCTG	0.602																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(748-750)GAG>AAG		ral guanine nucleotide dissociation		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	50.0	44.0	46.0		748,748	2.1	0.0	19		46	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RGL3	NM_001035223.2,NM_001161616.1	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	250/711,250/717	11517430	1,13005	2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11517430C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.748G>A	19.37:g.11517430C>T	ENSP00000369823:p.Glu250Lys					RGL3_uc002mrn.2_Missense_Mutation_p.E14K|RGL3_uc002mrm.2_Missense_Mutation_p.E14K|RGL3_uc002mro.2_Missense_Mutation_p.E250K	p.E250K	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			6	812	-			250			Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.748G>A	CCDS32910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.78|11.78	1.739719|1.739719	0.30865|0.30865	0.0|0.0	1.16E-4|1.16E-4	ENSG00000205517|ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456|ENST00000453604	T;T|.	0.35789|.	1.29;1.29|.	4.25|4.25	2.06|2.06	0.26882|0.26882	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);|.	0.663946|.	0.14738|.	N|.	0.301309|.	T|T	0.58206|0.58206	0.2106|0.2106	M|M	0.82323|0.82323	2.585|2.585	0.09310|0.09310	N|N	1|1	P;D;P;P|.	0.56521|.	0.508;0.976;0.508;0.726|.	B;P;B;B|.	0.48738|.	0.112;0.588;0.112;0.278|.	T|T	0.50346|0.50346	-0.8839|-0.8839	10|6	0.41790|0.49607	T|T	0.15|0.09	.|.	8.3595|8.3595	0.32351|0.32351	0.0:0.7535:0.1568:0.0897|0.0:0.7535:0.1568:0.0897	.|.	250;250;250;47|.	Q3MIN7;B5ME84;B7ZL22;Q8TEP0|.	RGL3_HUMAN;.;.;.|.	K|Q	47;250;250|168	ENSP00000377075:E250K;ENSP00000369823:E250K|.	ENSP00000344665:E47K|ENSP00000391460:R168Q	E|R	-|-	1|2	0|0	RGL3|RGL3	11378430|11378430	0.000000|0.000000	0.05858|0.05858	0.037000|0.037000	0.18230|0.18230	0.954000|0.954000	0.61252|0.61252	0.073000|0.073000	0.14640|0.14640	0.415000|0.415000	0.25817|0.25817	0.591000|0.591000	0.81541|0.81541	GAG|CGA		PASS	0.602	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		4	57	4	57	---	---	---	---
ZNF491	126069	broad.mit.edu	37	19	11917204	11917204	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:11917204T>C	ENST00000323169.5	+	3	767	c.436T>C	c.(436-438)Tac>Cac	p.Y146H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	146					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.Y146H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TCTCAGTTTATACCTTACCCA	0.408																																						uc002mso.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(436-438)TAC>CAC		zinc finger protein 491							93.0	93.0	93.0					19																	11917204		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917204T>C	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.436T>C	19.37:g.11917204T>C	ENSP00000313443:p.Tyr146His						p.Y146H	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			3	721	+			146			C2H2-type 3.		Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.436T>C	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	t	11.50	1.657434	0.29425	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.15139	2.45	1.34	-1.1	0.09872	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12008	0.0292	N	0.11845	0.185	0.09310	N	1	P	0.47484	0.896	P	0.49561	0.615	T	0.19844	-1.0293	9	0.87932	D	0	.	5.174	0.15126	0.0:0.3051:0.0:0.6949	.	146	Q8N8L2	ZN491_HUMAN	H	146	ENSP00000313443:Y146H	ENSP00000313443:Y146H	Y	+	1	0	ZNF491	11778204	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.944000	0.01538	-0.443000	0.07180	0.418000	0.28097	TAC		PASS	0.408	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		26	112	26	112	---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14262404	14262404	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:14262404C>G	ENST00000340736.6	-	24	4003	c.3706G>C	c.(3706-3708)Gcc>Ccc	p.A1236P	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.A1231P	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1236					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.A1236P(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGCCACAGGCTTCCCGGCCT	0.642																																						uc010xnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(3706-3708)GCC>CCC		latrophilin 1 isoform 1 precursor							57.0	66.0	63.0					19																	14262404		2039	4125	6164	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14262404C>G	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3706G>C	19.37:g.14262404C>G	ENSP00000340688:p.Ala1236Pro					LPHN1_uc010xno.1_Missense_Mutation_p.A1231P|uc002myf.2_Intron	p.A1236P	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			24	4002	-			1236			Cytoplasmic (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.3706G>C	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299790	0.40694	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.69926	-0.44;-0.44	4.69	4.69	0.59074	GPCR, family 2, latrophilin, C-terminal (1);	0.143577	0.45606	D	0.000354	T	0.42653	0.1212	N	0.03115	-0.41	0.28374	N	0.91985	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.40384	-0.9566	10	0.49607	T	0.09	.	11.0905	0.48113	0.0:0.812:0.188:0.0	.	1231;1236	O94910-2;O94910	.;LPHN1_HUMAN	P	1236;1231	ENSP00000340688:A1236P;ENSP00000355328:A1231P	ENSP00000340688:A1236P	A	-	1	0	LPHN1	14123404	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	0.947000	0.29082	2.155000	0.67459	0.313000	0.20887	GCC		PASS	0.642	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		27	128	27	128	---	---	---	---
AKAP8	10270	broad.mit.edu	37	19	15465941	15465941	+	Missense_Mutation	SNP	C	C	T	rs571638097		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:15465941C>T	ENST00000269701.2	-	14	1924	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	622					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E622K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGCAGCTGTTCGGCTTGAGGA	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17441	0.0		0.0	False		,,,				2504	0.0				GBM(190;1671 2163 3274 27186 30476)	uc002nav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1864-1866)GAA>AAA		A-kinase anchor protein 8							48.0	42.0	44.0					19																	15465941		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15465941C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1864G>A	19.37:g.15465941C>T	ENSP00000269701:p.Glu622Lys					AKAP8_uc010dzy.2_Missense_Mutation_p.E171K	p.E622K	NM_005858	NP_005849	O43823	AKAP8_HUMAN			14	1925	-			622						Missense_Mutation	SNP	ENST00000269701.2	37	c.1864G>A	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115330	0.37339	.	.	ENSG00000105127	ENST00000269701	T	0.47528	0.84	4.78	2.49	0.30216	.	1.027780	0.07739	N	0.946580	T	0.28034	0.0691	N	0.17082	0.46	0.09310	N	0.999999	B	0.32731	0.382	B	0.23018	0.043	T	0.14643	-1.0465	10	0.42905	T	0.14	-2.9724	6.5461	0.22406	0.1839:0.7111:0.0:0.105	.	622	O43823	AKAP8_HUMAN	K	622	ENSP00000269701:E622K	ENSP00000269701:E622K	E	-	1	0	AKAP8	15326941	0.002000	0.14202	0.003000	0.11579	0.012000	0.07955	1.027000	0.30115	1.204000	0.43247	0.655000	0.94253	GAA		PASS	0.657	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		12	67	12	67	---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15575156	15575156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:15575156G>T	ENST00000343625.7	-	2	99	c.14C>A	c.(13-15)tCg>tAg	p.S5*		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	5					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)	p.S5*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CCGGCTTGGCGACGGTGGGTC	0.672																																						uc002nbe.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(13-15)TCG>TAG		RAS protein activator like 3							28.0	34.0	32.0					19																	15575156		2003	4162	6165	SO:0001587	stop_gained	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15575156G>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.14C>A	19.37:g.15575156G>T	ENSP00000341905:p.Ser5*						p.S5*	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			2	100	-			5					Q8N2T9|Q9H735	Nonsense_Mutation	SNP	ENST00000343625.7	37	c.14C>A	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539158	0.85917	.	.	ENSG00000105122	ENST00000343625	.	.	.	4.17	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	7.7298	0.28781	0.1255:0.0:0.8745:0.0	.	.	.	.	X	5	.	ENSP00000341905:S5X	S	-	2	0	RASAL3	15436156	0.000000	0.05858	0.001000	0.08648	0.605000	0.37080	0.604000	0.24164	1.031000	0.39867	0.462000	0.41574	TCG		PASS	0.672	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		4	7	4	7	---	---	---	---
OR10H2	26538	broad.mit.edu	37	19	15839699	15839699	+	Silent	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:15839699C>A	ENST00000305899.3	+	1	866	c.846C>A	c.(844-846)ctC>ctA	p.L282L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L282L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACGCAGTCCTCACGCCCTTCC	0.547																																						uc002nbm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(844-846)CTC>CTA		olfactory receptor, family 10, subfamily H,							118.0	99.0	106.0					19																	15839699		2203	4300	6503	SO:0001819	synonymous_variant	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839699C>A	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.846C>A	19.37:g.15839699C>A							p.L282L	NM_013939	NP_039227	O60403	O10H2_HUMAN			1	866	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		282			Helical; Name=7; (Potential).		Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	c.846C>A	CCDS12333.1																																																																																				PASS	0.547	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			19	114	19	114	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16641589	16641589	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:16641589C>A	ENST00000198939.6	-	6	846	c.810G>T	c.(808-810)aaG>aaT	p.K270N	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.K259N					calcium homeostasis endoplasmic reticulum protein									p.K259N(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCCGGGCGATCTTCTGCTGCT	0.692																																						uc002nei.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(775-777)AAG>AAT		calcium homeostasis endoplasmic reticulum							39.0	45.0	43.0					19																	16641589		1944	4134	6078	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16641589C>A	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.810G>T	19.37:g.16641589C>A	ENSP00000198939:p.Lys270Asn					MED26_uc002nee.2_Intron	p.K259N	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			6	851	-			259			CID.			Missense_Mutation	SNP	ENST00000198939.6	37	c.777G>T		.	.	.	.	.	.	.	.	.	.	C	19.20	3.781289	0.70222	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.54279	0.58;0.58	5.07	3.97	0.46021	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	.	.	.	.	T	0.68210	0.2976	M	0.77486	2.375	0.51012	D	0.999903	D	0.76494	0.999	D	0.85130	0.997	T	0.70579	-0.4833	9	0.87932	D	0	-29.7699	6.7673	0.23575	0.0:0.802:0.0:0.198	.	259	Q8IWX8	CHERP_HUMAN	N	259;270	ENSP00000439856:K259N;ENSP00000198939:K270N	ENSP00000198939:K270N	K	-	3	2	CHERP	16502589	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.359000	0.44142	2.376000	0.81061	0.462000	0.41574	AAG		PASS	0.692	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		18	34	18	34	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16910739	16910739	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:16910739G>A	ENST00000552788.1	+	15	3502	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Missense_Mutation_p.E962K|NWD1_ENST00000339803.6_Missense_Mutation_p.E1033K|NWD1_ENST00000379808.3_Missense_Mutation_p.E1168K|NWD1_ENST00000524140.2_Missense_Mutation_p.E1168K			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1168							ATP binding (GO:0005524)	p.E1033K(1)|p.E1168K(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGACATCCTGGAAGGCGTCGG	0.592																																						uc002neu.3																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)	7						c.(3502-3504)GAA>AAA		RecName: Full=NACHT and WD repeat domain-containing protein 1;							40.0	41.0	41.0					19																	16910739		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16910739G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3502G>A	19.37:g.16910739G>A	ENSP00000447224:p.Glu1168Lys					NWD1_uc002net.3_Missense_Mutation_p.E1033K|NWD1_uc002nev.3_Missense_Mutation_p.E962K	p.E1168K			Q149M9	NWD1_HUMAN			17	3924	+			1168			WD 9.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3502G>A		.	.	.	.	.	.	.	.	.	.	G	13.14	2.148767	0.37923	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T	0.64438	-0.1;-0.1;3.62;1.58;3.62	4.63	4.63	0.57726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.324485	0.28742	N	0.014298	T	0.43033	0.1229	N	0.22421	0.69	0.29537	N	0.852388	B;P;B	0.37330	0.421;0.59;0.281	B;B;B	0.38056	0.08;0.264;0.111	T	0.36040	-0.9764	10	0.07813	T	0.8	-13.8815	10.1214	0.42623	0.0:0.0:0.8003:0.1997	.	1168;1168;1033	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	K	1033;1168;1168;962;1168;1033	ENSP00000428579:E1168K;ENSP00000369136:E1168K;ENSP00000428955:E962K;ENSP00000447224:E1168K;ENSP00000340159:E1033K	ENSP00000340159:E1033K	E	+	1	0	NWD1	16771739	1.000000	0.71417	0.724000	0.30704	0.766000	0.43426	3.559000	0.53756	2.408000	0.81797	0.655000	0.94253	GAA		PASS	0.592	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	62	7	62	---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17312971	17312971	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:17312971G>C	ENST00000594824.1	+	28	4842	c.4695G>C	c.(4693-4695)ctG>ctC	p.L1565L	MYO9B_ENST00000397274.2_Silent_p.L1565L|MYO9B_ENST00000595618.1_Silent_p.L1565L			Q13459	MYO9B_HUMAN	myosin IXB	1565	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.L1565L(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACAAGGATCTGATGGAGAACT	0.577																																						uc010eak.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(4693-4695)CTG>CTC		myosin IXB isoform 1							56.0	58.0	57.0					19																	17312971		2008	4181	6189	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17312971G>C		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4695G>C	19.37:g.17312971G>C						MYO9B_uc002nfi.2_Silent_p.L1565L|MYO9B_uc002nfj.1_Silent_p.L1565L|MYO9B_uc002nfl.1_Silent_p.L114L	p.L1565L	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			28	4847	+			1565			Tail.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.4695G>C																																																																																					PASS	0.577	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			8	36	8	36	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17743637	17743637	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:17743637C>T	ENST00000519716.2	-	28	3381	c.3382G>A	c.(3382-3384)Gtg>Atg	p.V1128M	UNC13A_ENST00000551649.1_Missense_Mutation_p.V1128M|UNC13A_ENST00000252773.7_Missense_Mutation_p.V1128M|UNC13A_ENST00000552293.1_Missense_Mutation_p.V1128M|UNC13A_ENST00000550896.1_Missense_Mutation_p.V1126M|UNC13A_ENST00000428389.2_Missense_Mutation_p.V1216M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1128	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.V1216M(1)|p.V1128M(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGTTCCGTCACATACTCATTG	0.552																																						uc002nhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3646-3648)GTG>ATG		unc-13 homolog A							112.0	118.0	116.0					19																	17743637		2141	4269	6410	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17743637C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3382G>A	19.37:g.17743637C>T	ENSP00000429562:p.Val1128Met						p.V1216M	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			28	3646	-			1128			MHD1.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.3646G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	c	16.80	3.222633	0.58668	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.83250	-1.67;-1.7;-1.67;-1.54;-1.57;-1.69	3.63	3.63	0.41609	Munc13 homology 1 (1);	0.336258	0.27223	U	0.020356	D	0.83936	0.5362	M	0.83953	2.67	0.35732	D	0.818031	P	0.46912	0.886	B	0.42163	0.378	D	0.90007	0.4118	10	0.87932	D	0	.	12.7958	0.57558	0.0:1.0:0.0:0.0	.	1128	Q9UPW8	UN13A_HUMAN	M	1128;1216;1128;1128;1128;1126	ENSP00000429562:V1128M;ENSP00000400409:V1216M;ENSP00000252773:V1128M;ENSP00000447236:V1128M;ENSP00000447572:V1128M;ENSP00000446831:V1126M	ENSP00000252773:V1128M	V	-	1	0	UNC13A	17604637	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	6.068000	0.71201	1.585000	0.49928	0.298000	0.19748	GTG		PASS	0.552	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		50	115	50	115	---	---	---	---
RAB3A	5864	broad.mit.edu	37	19	18313413	18313413	+	Silent	SNP	C	C	A	rs144222621		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:18313413C>A	ENST00000222256.4	-	2	316	c.138G>T	c.(136-138)tcG>tcT	p.S46S	AC068499.10_ENST00000599416.2_RNA|AC068499.10_ENST00000596473.1_RNA|RAB3A_ENST00000464076.3_Intron|AC068499.10_ENST00000594805.3_RNA	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	46					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.S46S(2)		NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CAGGCGTGAACGAGTCGTCAG	0.542											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002nie.2																			2	Substitution - coding silent(2)		prostate(1)|lung(1)		0						c.(136-138)TCG>TCT		RAB3A, member RAS oncogene family							283.0	226.0	245.0					19																	18313413		2203	4300	6503	SO:0001819	synonymous_variant	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18313413C>A		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.138G>T	19.37:g.18313413C>A			OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724		p.S46S	NM_002866	NP_002857	P20336	RAB3A_HUMAN			2	307	-			46					A8K0J4|Q9NYE1	Silent	SNP	ENST00000222256.4	37	c.138G>T	CCDS12372.1																																																																																				PASS	0.542	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		27	198	27	198	---	---	---	---
LSM4	25804	broad.mit.edu	37	19	18423448	18423448	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:18423448T>C	ENST00000593829.1	-	3	363	c.110A>G	c.(109-111)aAc>aGc	p.N37S	LSM4_ENST00000252816.6_Missense_Mutation_p.N23S	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	37					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)	p.N37S(1)		endometrium(1)|large_intestine(2)|lung(3)	6						CAGGTTAATGTTCATCCAGTT	0.582																																						uc002niq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)AAC>AGC		U6 snRNA-associated Sm-like protein 4							300.0	249.0	267.0					19																	18423448		2203	4300	6503	SO:0001583	missense	25804				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding	g.chr19:18423448T>C	AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.110A>G	19.37:g.18423448T>C	ENSP00000469468:p.Asn37Ser						p.N37S	NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN			3	281	-			37						Missense_Mutation	SNP	ENST00000593829.1	37	c.110A>G	CCDS12374.1	.	.	.	.	.	.	.	.	.	.	t	22.8	4.337415	0.81911	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.74	4.74	0.60224	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	H	0.99789	4.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94771	0.7945	9	0.87932	D	0	-2.7514	13.7141	0.62687	0.0:0.0:0.0:1.0	.	37	Q9Y4Z0	LSM4_HUMAN	S	37	.	ENSP00000252816:N37S	N	-	2	0	LSM4	18284448	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.090000	0.76916	1.915000	0.55452	0.255000	0.18592	AAC		PASS	0.582	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466321.1			57	120	57	120	---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19655002	19655002	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:19655002G>C	ENST00000291495.5	+	8	1733	c.1648G>C	c.(1648-1650)Gag>Cag	p.E550Q	CILP2_ENST00000586018.1_Missense_Mutation_p.E556Q	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	550						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.E550Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGTGTACCACGAGGTCAAGGC	0.617																																						uc002nmv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1648-1650)GAG>CAG		cartilage intermediate layer protein 2							69.0	74.0	73.0					19																	19655002		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655002G>C	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1648G>C	19.37:g.19655002G>C	ENSP00000291495:p.Glu550Gln					CILP2_uc002nmw.3_Missense_Mutation_p.E556Q	p.E550Q	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1733	+			550					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1648G>C	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576738	0.45902	.	.	ENSG00000160161	ENST00000291495	T	0.50277	0.75	3.77	3.77	0.43336	Carbohydrate-binding-like fold (1);	0.196940	0.42053	D	0.000768	T	0.55737	0.1939	L	0.59436	1.845	0.33436	D	0.581782	P;P	0.51147	0.942;0.942	P;P	0.53450	0.726;0.726	T	0.70403	-0.4881	10	0.56958	D	0.05	-16.2783	13.1452	0.59456	0.0:0.0:1.0:0.0	.	550;550	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	Q	550	ENSP00000291495:E550Q	ENSP00000291495:E550Q	E	+	1	0	CILP2	19516002	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.456000	0.73501	1.662000	0.50781	0.430000	0.28490	GAG		PASS	0.617	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		20	156	20	156	---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19655137	19655137	+	Missense_Mutation	SNP	G	G	C	rs147931006		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:19655137G>C	ENST00000291495.5	+	8	1868	c.1783G>C	c.(1783-1785)Gac>Cac	p.D595H	CILP2_ENST00000586018.1_Missense_Mutation_p.D601H	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	595						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.D595H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGCAGAGCCGACGGCAAACC	0.672																																						uc002nmv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1783-1785)GAC>CAC		cartilage intermediate layer protein 2							57.0	67.0	64.0					19																	19655137		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655137G>C	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1783G>C	19.37:g.19655137G>C	ENSP00000291495:p.Asp595His					CILP2_uc002nmw.3_Missense_Mutation_p.D601H	p.D595H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1868	+			595					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1783G>C	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	7.732	0.699396	0.15106	.	.	ENSG00000160161	ENST00000291495	T	0.46819	0.86	3.92	1.27	0.21489	.	0.413125	0.25762	N	0.028477	T	0.50990	0.1648	L	0.48642	1.525	0.09310	N	1	D;P	0.54397	0.966;0.928	P;P	0.57324	0.772;0.818	T	0.38950	-0.9637	10	0.72032	D	0.01	-13.5453	8.6511	0.34035	0.2451:0.0:0.7549:0.0	.	595;595	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	H	595	ENSP00000291495:D595H	ENSP00000291495:D595H	D	+	1	0	CILP2	19516137	0.025000	0.19082	0.014000	0.15608	0.030000	0.12068	1.154000	0.31688	0.646000	0.30693	0.430000	0.28490	GAC		PASS	0.672	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		22	153	22	153	---	---	---	---
ZNF429	353088	broad.mit.edu	37	19	21719720	21719720	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:21719720G>C	ENST00000358491.4	+	4	1073	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	289					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.E289Q(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAAATGTGATGAATGTGGCAA	0.378																																						uc002nqd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(865-867)GAA>CAA		zinc finger protein 429							37.0	41.0	39.0					19																	21719720		2149	4277	6426	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719720G>C	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.865G>C	19.37:g.21719720G>C	ENSP00000351280:p.Glu289Gln					ZNF429_uc010ecu.1_Intron	p.E289Q	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	1002	+			289			C2H2-type 6.		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.865G>C	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.639	-0.814124	0.02798	.	.	ENSG00000197013	ENST00000358491	T	0.07444	3.19	0.876	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.13140	0.3	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.41342	-0.9514	9	0.42905	T	0.14	.	7.057	0.25106	0.0:0.4659:0.5341:0.0	.	289	Q86V71	ZN429_HUMAN	Q	289	ENSP00000351280:E289Q	ENSP00000351280:E289Q	E	+	1	0	ZNF429	21511560	0.000000	0.05858	0.599000	0.28851	0.600000	0.36913	-1.440000	0.02412	0.293000	0.22520	0.298000	0.19748	GAA		PASS	0.378	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		11	92	11	92	---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21910188	21910188	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:21910188C>G	ENST00000358296.6	-	5	1124	c.926G>C	c.(925-927)aGa>aCa	p.R309T	ZNF100_ENST00000305570.6_Missense_Mutation_p.R245T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	309					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.R309I(1)|p.R309T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AGTATGAATTCTTTTATGTGT	0.388																																						uc002nqi.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(925-927)AGA>ACA		zinc finger protein 100							46.0	49.0	48.0					19																	21910188		2192	4296	6488	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910188C>G	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.926G>C	19.37:g.21910188C>G	ENSP00000351042:p.Arg309Thr					ZNF100_uc002nqh.2_Missense_Mutation_p.R245T	p.R309T	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	1125	-			309			C2H2-type 5.		Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.926G>C	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	4.665	0.123650	0.08931	.	.	ENSG00000197020	ENST00000358296	T	0.02421	4.3	0.907	-1.81	0.07882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	M	0.70842	2.15	0.25376	N	0.988655	B;B	0.27656	0.018;0.184	B;B	0.26693	0.013;0.072	T	0.36261	-0.9755	9	0.49607	T	0.09	.	2.6738	0.05075	0.2733:0.5235:0.0:0.2032	.	309;363	Q8IYN0;Q4G131	ZN100_HUMAN;.	T	309	ENSP00000351042:R309T	ENSP00000351042:R309T	R	-	2	0	ZNF100	21702028	0.000000	0.05858	0.045000	0.18777	0.045000	0.14185	0.024000	0.13555	-0.888000	0.03956	-0.898000	0.02899	AGA		PASS	0.388	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		55	118	55	118	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154213	22154213	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:22154213C>A	ENST00000397126.4	-	4	3771	c.3623G>T	c.(3622-3624)tGg>tTg	p.W1208L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1208					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.W1080L(2)|p.W1080*(2)|p.W1208L(1)|p.W1208*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTTGAGGGCCACTTATAGGC	0.393																																						uc002nqp.2																			6	Substitution - Nonsense(3)|Substitution - Missense(3)		lung(6)	ovary(5)|skin(2)	7						c.(3238-3240)TGG>TTG		zinc finger protein 208							35.0	38.0	37.0					19																	22154213		2105	4239	6344	SO:0001583	missense	7757							g.chr19:22154213C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3623G>T	19.37:g.22154213C>A	ENSP00000380315:p.Trp1208Leu					ZNF208_uc002nqo.1_Intron	p.W1080L	NM_007153	NP_009084					6	3388	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3239G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	1.548	-0.540025	0.04053	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.28255	1.62	3.22	-4.51	0.03483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11707	0.0285	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.34725	-0.9817	8	0.11485	T	0.65	.	4.6795	0.12727	0.2982:0.4893:0.0:0.2125	.	1080	O43345	ZN208_HUMAN	L	1208;1080	ENSP00000380315:W1208L	ENSP00000380315:W1208L	W	-	2	0	ZNF208	21946053	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.457000	0.21875	-0.850000	0.04152	0.298000	0.19748	TGG		PASS	0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		17	78	17	78	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22157406	22157406	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:22157406C>T	ENST00000397126.4	-	4	578	c.430G>A	c.(430-432)Gta>Ata	p.V144I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	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.V144I(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CGTTGAAATACTTTGCTCTGT	0.318																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(430-432)GTA>ATA		zinc finger protein 208							133.0	131.0	132.0					19																	22157406		2059	4235	6294	SO:0001583	missense	7757							g.chr19:22157406C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.430G>A	19.37:g.22157406C>T	ENSP00000380315:p.Val144Ile					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.V144I	NM_007153	NP_009084					4	579	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.430G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.275	-0.990544	0.02162	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.06371	3.31	1.44	-1.15	0.09709	.	.	.	.	.	T	0.03095	0.0091	.	.	.	0.09310	N	1	B	0.23377	0.084	B	0.21360	0.034	T	0.48525	-0.9028	8	0.15952	T	0.53	.	5.3044	0.15795	0.0:0.6069:0.0:0.3931	.	144	O43345	ZN208_HUMAN	I	144	ENSP00000380315:V144I	ENSP00000380315:V144I	V	-	1	0	ZNF208	21949246	0.000000	0.05858	0.018000	0.16275	0.147000	0.21601	-0.695000	0.05109	-0.024000	0.13941	0.289000	0.19496	GTA		PASS	0.318	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		29	175	29	175	---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22846700	22846700	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:22846700G>A	ENST00000456783.2	+	4	473	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	77					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.E77K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATGTGGATGTGAAAATTTACA	0.348																																						uc002nqw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GAA>AAA		zinc finger protein 492							43.0	52.0	49.0					19																	22846700		1876	4138	6014	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846700G>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.229G>A	19.37:g.22846700G>A	ENSP00000413660:p.Glu77Lys						p.E77K	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	473	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	77					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.229G>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	4.669	0.124330	0.08931	.	.	ENSG00000229676	ENST00000456783	T	0.07567	3.18	0.769	-0.517	0.11947	.	.	.	.	.	T	0.07234	0.0183	L	0.55481	1.735	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.40534	-0.9558	9	0.26408	T	0.33	.	3.325	0.07063	0.317:0.0:0.683:0.0	.	77	Q9P255	ZN492_HUMAN	K	77	ENSP00000413660:E77K	ENSP00000413660:E77K	E	+	1	0	ZNF492	22638540	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	0.515000	0.22801	-0.072000	0.12864	-0.511000	0.04467	GAA		PASS	0.348	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		8	25	8	25	---	---	---	---
ZNF675	171392	broad.mit.edu	37	19	23836981	23836981	+	Nonsense_Mutation	SNP	G	G	A	rs201045890		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:23836981G>A	ENST00000359788.4	-	4	922	c.754C>T	c.(754-756)Cga>Tga	p.R252*	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	252					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R252*(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GGTTTCTCTCGAGCATAATCT	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		18527	0.0		0.001	False		,,,				2504	0.0					uc002nri.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(754-756)CGA>TGA		zinc finger protein 675		G	stop/ARG	0,4406		0,0,2203	60.0	64.0	63.0		754	-1.8	0.0	19		63	2,8594		0,2,4296	no	stop-gained	ZNF675	NM_138330.2		0,2,6499	AA,AG,GG		0.0233,0.0,0.0154		252/569	23836981	2,13000	2203	4298	6501	SO:0001587	stop_gained	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836981G>A		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.754C>T	19.37:g.23836981G>A	ENSP00000352836:p.Arg252*						p.R252*	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			4	936	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	252					Q8N211	Nonsense_Mutation	SNP	ENST00000359788.4	37	c.754C>T	CCDS32981.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	16.89	3.247563	0.59103	0.0	2.33E-4	ENSG00000197372	ENST00000359788	.	.	.	0.916	-1.83	0.07833	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	7.6141	0.28148	0.0:0.7265:0.2735:0.0	.	.	.	.	X	252	.	ENSP00000352836:R252X	R	-	1	2	ZNF675	23628821	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.175000	0.16762	-0.839000	0.04212	-0.834000	0.03071	CGA		PASS	0.333	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		6	141	6	141	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31768443	31768443	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:31768443C>G	ENST00000240587.4	-	2	2583	c.2256G>C	c.(2254-2256)aaG>aaC	p.K752N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	752					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K752N(1)|p.K569N(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGTTGCTCATCTTGAAAAGCA	0.602																																						uc002nsy.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2254-2256)AAG>AAC		zinc finger protein 537							60.0	62.0	61.0					19																	31768443		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768443C>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2256G>C	19.37:g.31768443C>G	ENSP00000240587:p.Lys752Asn						p.K752N	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2321	-	Esophageal squamous(110;0.226)		752					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2256G>C	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438033	0.62955	.	.	ENSG00000121297	ENST00000240587	T	0.60548	0.18	5.37	4.34	0.51931	.	0.047124	0.85682	D	0.000000	T	0.69124	0.3076	M	0.71206	2.165	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.71603	-0.4543	10	0.87932	D	0	-29.958	5.0861	0.14682	0.0:0.7114:0.0:0.2886	.	752	Q63HK5	TSH3_HUMAN	N	752	ENSP00000240587:K752N	ENSP00000240587:K752N	K	-	3	2	TSHZ3	36460283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.281000	0.58965	2.501000	0.84356	0.655000	0.94253	AAG		PASS	0.602	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		4	135	4	135	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31770267	31770267	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:31770267C>T	ENST00000240587.4	-	2	759	c.432G>A	c.(430-432)gaG>gaA	p.E144E		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	144	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E144E(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					cgttgTTCTTCTCCGAGGAGG	0.597																																						uc002nsy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(430-432)GAG>GAA		zinc finger protein 537							70.0	74.0	73.0					19																	31770267		2199	4289	6488	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770267C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.432G>A	19.37:g.31770267C>T							p.E144E	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	497	-	Esophageal squamous(110;0.226)		144			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.432G>A	CCDS12421.2																																																																																				PASS	0.597	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		9	19	9	19	---	---	---	---
ZNF507	22847	broad.mit.edu	37	19	32844814	32844814	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:32844814G>C	ENST00000311921.4	+	2	1270	c.1078G>C	c.(1078-1080)Gaa>Caa	p.E360Q	ZNF507_ENST00000544431.1_Missense_Mutation_p.E360Q|ZNF507_ENST00000355898.5_Missense_Mutation_p.E360Q	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	360					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.E360Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CAATGAGGAAGAAATGCTAGA	0.438																																						uc002nte.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1078-1080)GAA>CAA		zinc finger protein 507							75.0	76.0	76.0					19																	32844814		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844814G>C	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1078G>C	19.37:g.32844814G>C	ENSP00000312277:p.Glu360Gln					ZNF507_uc002ntc.2_Missense_Mutation_p.E360Q|ZNF507_uc010xrn.1_Missense_Mutation_p.E360Q|ZNF507_uc002ntd.2_Missense_Mutation_p.E360Q	p.E360Q	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	1350	+	Esophageal squamous(110;0.162)		360					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.1078G>C	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679968	0.47886	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.06371	3.62;3.62;3.31	6.06	6.06	0.98353	.	0.360925	0.31963	N	0.006800	T	0.10208	0.0250	L	0.56769	1.78	0.26584	N	0.97331	P;P	0.41265	0.627;0.744	B;B	0.40825	0.139;0.341	T	0.27839	-1.0062	10	0.20519	T	0.43	.	16.501	0.84256	0.0:0.1308:0.8692:0.0	.	360;360	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	Q	360	ENSP00000348162:E360Q;ENSP00000312277:E360Q;ENSP00000441549:E360Q	ENSP00000312277:E360Q	E	+	1	0	ZNF507	37536654	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.213000	0.65230	2.871000	0.98454	0.655000	0.94253	GAA		PASS	0.438	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		28	175	28	175	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33117720	33117720	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:33117720G>C	ENST00000306065.4	-	16	1592	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	478					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.L478L(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGAGGTCGATGAGGGATGCCT	0.572																																						uc002ntn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1432-1434)CTC>CTG		ankyrin repeat domain 27 (VPS9 domain)							76.0	61.0	66.0					19																	33117720		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33117720G>C	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1434C>G	19.37:g.33117720G>C							p.L478L	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			16	1590	-	Esophageal squamous(110;0.137)		478			ANK 2.		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.1434C>G	CCDS32986.1																																																																																				PASS	0.572	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		8	31	8	31	---	---	---	---
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:35232200T>G	ENST00000492450.1	+	4	1003	c.914T>G	c.(913-915)gTc>gGc	p.V305G	ZNF181_ENST00000392232.3_Missense_Mutation_p.V349G|ZNF181_ENST00000459757.2_Missense_Mutation_p.V304G			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	305					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.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413													T|||	3	0.000599042	0.0	0.0	5008	,	,		22105	0.002		0.0	False		,,,				2504	0.001					uc002nvu.3																			4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(1)	1						c.(913-915)GTC>GGC		zinc finger protein 181 isoform 1							91.0	88.0	89.0					19																	35232200		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232200T>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.914T>G	19.37:g.35232200T>G	ENSP00000420727:p.Val305Gly					ZNF181_uc010xsa.1_Missense_Mutation_p.V304G|ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G	p.V305G	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1377	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		305			C2H2-type 3.		B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.914T>G	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	1.102	-0.660828	0.03454	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.38560	2.43;1.13;1.13	2.89	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16642	0.0400	N	0.10733	0.035	0.09310	N	0.999999	P;B	0.38978	0.652;0.0	B;B	0.30179	0.112;0.001	T	0.04017	-1.0984	9	0.22109	T	0.4	.	5.4169	0.16378	0.2509:0.0:0.0:0.749	.	304;305	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	G	349;304;305;304	ENSP00000376065:V349G;ENSP00000420727:V305G;ENSP00000419435:V304G	ENSP00000376065:V349G	V	+	2	0	ZNF181	39924040	0.000000	0.05858	0.880000	0.34516	0.765000	0.43378	-0.861000	0.04268	1.565000	0.49641	0.402000	0.26972	GTC		PASS	0.413	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		5	260	5	260	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36054161	36054161	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:36054161G>C	ENST00000262623.3	-	3	194	c.166C>G	c.(166-168)Cag>Gag	p.Q56E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	56					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.Q56E(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ACTGACAGCTGGTGGTCGTTC	0.647																																						uc002oal.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(166-168)CAG>GAG		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						167.0	166.0	166.0					19																	36054161		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054161G>C		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.166C>G	19.37:g.36054161G>C	ENSP00000262623:p.Gln56Glu						p.Q56E	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		3	195	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		56			Cytoplasmic (Potential).		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.166C>G	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216978	0.39201	.	.	ENSG00000105675	ENST00000262623	T	0.78707	-1.2	4.65	3.53	0.40419	ATPase, P-type cation-transporter, N-terminal (2);	0.117980	0.34411	N	0.003984	T	0.53318	0.1789	N	0.03324	-0.35	0.27798	N	0.942573	B	0.02656	0.0	B	0.06405	0.002	T	0.50092	-0.8868	10	0.45353	T	0.12	.	9.2397	0.37489	0.0:0.0:0.7843:0.2157	.	56	P20648	ATP4A_HUMAN	E	56	ENSP00000262623:Q56E	ENSP00000262623:Q56E	Q	-	1	0	ATP4A	40746001	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.954000	0.29175	2.152000	0.67230	0.644000	0.83932	CAG		PASS	0.647	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		11	305	11	305	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36227820	36227820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:36227820G>A	ENST00000222270.7	+	32	7305	c.7305G>A	c.(7303-7305)tgG>tgA	p.W2435*	IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.W2435*	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2435	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.W2437*(1)									CAGGGGCGTGGAGAACTCTGA	0.607																																						uc010eei.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(7303-7305)TGG>TGA		myeloid/lymphoid or mixed-lineage leukemia 4							45.0	51.0	49.0					19																	36227820		2135	4254	6389	SO:0001587	stop_gained	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36227820G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7305G>A	19.37:g.36227820G>A	ENSP00000222270:p.Trp2435*						p.W2435*	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		33	7305	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		2435			FYR C-terminal.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	c.7305G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	46	12.806652	0.99698	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	5.33	4.29	0.51040	.	0.000000	0.40385	N	0.001119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3351	0.55062	0.0834:0.0:0.9166:0.0	.	.	.	.	X	2435	.	ENSP00000222270:W2435X	W	+	3	0	AD000671.1	40919660	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.240000	0.78192	2.489000	0.83994	0.563000	0.77884	TGG		PASS	0.607	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		10	74	10	74	---	---	---	---
APLP1	333	broad.mit.edu	37	19	36370332	36370332	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:36370332G>C	ENST00000221891.4	+	17	2137	c.1945G>C	c.(1945-1947)Gaa>Caa	p.E649Q	APLP1_ENST00000537454.2_Missense_Mutation_p.E609Q|RN7SL402P_ENST00000465059.1_RNA|APLP1_ENST00000586861.1_Missense_Mutation_p.E642Q	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	648	Interaction with DAB1. {ECO:0000250}.|Interaction with DAB2. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.E649Q(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTTCCTGGAGGAACGACCCTG	0.662																																						uc002oce.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1942-1944)GAA>CAA		amyloid precursor-like protein 1 isoform 2							73.0	74.0	74.0					19																	36370332		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36370332G>C	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1945G>C	19.37:g.36370332G>C	ENSP00000221891:p.Glu649Gln					APLP1_uc010xsz.1_Missense_Mutation_p.E609Q|APLP1_uc002ocf.2_Missense_Mutation_p.E649Q|APLP1_uc002ocg.2_Missense_Mutation_p.E552Q|APLP1_uc010xta.1_Missense_Mutation_p.E642Q	p.E648Q	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	2080	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		648			Cytoplasmic (Potential).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1942G>C	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	6.654	0.489178	0.12641	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.93426	-3.14;-3.22	5.89	5.89	0.94794	.	0.436517	0.19661	N	0.108976	D	0.85669	0.5750	N	0.12569	0.235	0.40079	D	0.976117	B;B;B;B	0.31383	0.321;0.003;0.093;0.045	B;B;B;B	0.34180	0.177;0.015;0.038;0.012	T	0.82224	-0.0563	10	0.02654	T	1	-7.0993	15.7619	0.78091	0.0:0.0:1.0:0.0	.	642;609;649;648	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	Q	609;649	ENSP00000441501:E609Q;ENSP00000221891:E649Q	ENSP00000221891:E649Q	E	+	1	0	APLP1	41062172	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.581000	0.46077	2.793000	0.96121	0.655000	0.94253	GAA		PASS	0.662	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		5	136	5	136	---	---	---	---
ZNF829	374899	broad.mit.edu	37	19	37383109	37383109	+	Missense_Mutation	SNP	C	C	G	rs368287177		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:37383109C>G	ENST00000391711.3	-	6	948	c.584G>C	c.(583-585)cGt>cCt	p.R195P	ZNF829_ENST00000520965.1_Missense_Mutation_p.R276P|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	195					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.R195P(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGTGAGCCACGACTAAAGGA	0.368																																						uc002ofa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)CGT>CCT		zinc finger protein 829							70.0	69.0	69.0					19																	37383109		2158	4282	6440	SO:0001583	missense	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37383109C>G	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.584G>C	19.37:g.37383109C>G	ENSP00000429266:p.Arg195Pro					ZNF345_uc002oez.2_Intron	p.R195P	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	946	-	Esophageal squamous(110;0.183)		195			C2H2-type 2; degenerate.		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	c.584G>C	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	4.155	0.027267	0.08054	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.01034	5.42	3.41	2.37	0.29283	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	M	0.83312	2.635	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28902	-1.0029	9	0.44086	T	0.13	.	7.8192	0.29278	0.0:0.7856:0.0:0.2144	.	195	Q3KNS6	ZN829_HUMAN	P	195	ENSP00000429266:R195P	ENSP00000429266:R195P	R	-	2	0	ZNF829	42074949	0.000000	0.05858	0.996000	0.52242	0.394000	0.30568	-1.997000	0.01470	1.006000	0.39211	-0.143000	0.13931	CGT		PASS	0.368	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		56	89	56	89	---	---	---	---
ZNF573	126231	broad.mit.edu	37	19	38229665	38229665	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:38229665G>C	ENST00000590414.2	-	4	1747	c.1726C>G	c.(1726-1728)Cat>Gat	p.H576D	ZNF573_ENST00000392138.1_Missense_Mutation_p.H489D|ZNF573_ENST00000339503.4_Missense_Mutation_p.H518D|ZNF573_ENST00000536220.1_Missense_Mutation_p.H488D|ZNF573_ENST00000357309.3_Missense_Mutation_p.H488D			Q86YE8	ZN573_HUMAN	zinc finger protein 573	576					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.H518D(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTATCAGCATGAATGCTCTGA	0.373																																						uc002ohe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1726-1728)CAT>GAT		zinc finger protein 573							76.0	75.0	76.0					19																	38229665		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229665G>C	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1726C>G	19.37:g.38229665G>C	ENSP00000465020:p.His576Asp					ZNF573_uc010efs.2_Missense_Mutation_p.H489D|ZNF573_uc002ohd.2_Missense_Mutation_p.H574D|ZNF573_uc002ohf.2_Missense_Mutation_p.H518D|ZNF573_uc002ohg.2_Missense_Mutation_p.H488D	p.H576D	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		4	1748	-			556			C2H2-type 16.		B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.1726C>G	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024864	0.54683	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	2.4	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86285	0.5896	H	0.96777	3.88	0.33496	D	0.58925	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	D	0.90739	0.4648	9	0.87932	D	0	.	11.5334	0.50624	0.0:0.0:1.0:0.0	.	489;518;556;488	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	D	489;488;488;518;488	ENSP00000375983:H489D;ENSP00000440464:H488D;ENSP00000349861:H488D;ENSP00000340171:H518D	ENSP00000340171:H518D	H	-	1	0	ZNF573	42921505	1.000000	0.71417	0.560000	0.28344	0.997000	0.91878	7.804000	0.85993	1.168000	0.42723	0.585000	0.79938	CAT		PASS	0.373	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		30	212	30	212	---	---	---	---
CATSPERG	57828	broad.mit.edu	37	19	38853195	38853195	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:38853195C>G	ENST00000409235.3	+	19	2452	c.2337C>G	c.(2335-2337)ttC>ttG	p.F779L	CATSPERG_ENST00000215069.4_3'UTR|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000410018.1_Missense_Mutation_p.F739L	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	779					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.F419L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GCCACTCGTTCCGGACGCAGT	0.657																																						uc002oih.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2335-2337)TTC>TTG		cation channel, sperm-associated, gamma							39.0	38.0	38.0					19																	38853195		2202	4300	6502	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38853195C>G	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2337C>G	19.37:g.38853195C>G	ENSP00000386962:p.Phe779Leu					CATSPERG_uc002oig.3_Missense_Mutation_p.F739L|CATSPERG_uc002oif.3_Missense_Mutation_p.F419L|CATSPERG_uc010efw.2_RNA	p.F779L	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			19	2424	+			779			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2337C>G	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647897	0.29336	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.32753	1.44;1.44	3.88	0.368	0.16146	.	0.822889	0.10364	N	0.683623	T	0.24431	0.0592	L	0.56769	1.78	0.18873	N	0.999989	B;B	0.24920	0.002;0.114	B;B	0.23574	0.004;0.047	T	0.31280	-0.9949	10	0.18710	T	0.47	-2.6352	4.632	0.12506	0.0:0.587:0.1863:0.2267	.	779;739	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	L	739;779;779	ENSP00000387057:F739L;ENSP00000386962:F779L	ENSP00000386962:F779L	F	+	3	2	CATSPERG	43545035	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.423000	0.07034	0.237000	0.21200	-0.379000	0.06801	TTC		PASS	0.657	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		14	91	14	91	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38934255	38934255	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:38934255C>A	ENST00000359596.3	+	4	328	c.328C>A	c.(328-330)Cat>Aat	p.H110N	RYR1_ENST00000355481.4_Missense_Mutation_p.H110N|RYR1_ENST00000360985.3_Missense_Mutation_p.H110N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	110	MIR 1. {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.H110N(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)	CCTGCTCCGGCATGCACACAG	0.647																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(328-330)CAT>AAT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						57.0	51.0	53.0					19																	38934255		2203	4299	6502	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.chr19:38934255C>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.328C>A	19.37:g.38934255C>A	ENSP00000352608:p.His110Asn					RYR1_uc002oiu.2_Missense_Mutation_p.H110N	p.H110N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	458	+	all_cancers(60;7.91e-06)		110			Cytoplasmic.|MIR 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.328C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611257	0.46631	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98926	-5.24;-5.24;-5.24	4.08	4.08	0.47627	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.64402	U	0.000001	D	0.99140	0.9703	M	0.88181	2.935	0.47621	D	0.999478	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.99094	1.0841	10	0.87932	D	0	.	13.8286	0.63366	0.0:1.0:0.0:0.0	.	110;110	P21817-2;P21817	.;RYR1_HUMAN	N	110	ENSP00000352608:H110N;ENSP00000347667:H110N;ENSP00000354254:H110N	ENSP00000347667:H110N	H	+	1	0	RYR1	43626095	1.000000	0.71417	0.994000	0.49952	0.500000	0.33767	7.328000	0.79160	2.108000	0.64289	0.563000	0.77884	CAT		PASS	0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			8	58	8	58	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38991553	38991553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:38991553G>T	ENST00000359596.3	+	47	7537	c.7537G>T	c.(7537-7539)Gag>Tag	p.E2513*	RYR1_ENST00000355481.4_Nonsense_Mutation_p.E2513*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.E2513*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2513	6 X approximate repeats.				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.E2513Q(1)|p.E2513*(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)	GTATGGCATCGAGAACCAGGA	0.632																																						uc002oit.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7537-7539)GAG>TAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						102.0	71.0	81.0					19																	38991553		2203	4300	6503	SO:0001587	stop_gained	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.chr19:38991553G>T	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.7537G>T	19.37:g.38991553G>T	ENSP00000352608:p.Glu2513*					RYR1_uc002oiu.2_Nonsense_Mutation_p.E2513*|RYR1_uc002oiv.1_5'UTR	p.E2513*	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		47	7667	+	all_cancers(60;7.91e-06)		2513			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	ENST00000359596.3	37	c.7537G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	49	15.244000	0.99827	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	4.41	4.41	0.53225	.	0.075454	0.50627	U	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.9284	0.79639	0.0:0.0:1.0:0.0	.	.	.	.	X	2513	.	ENSP00000347667:E2513X	E	+	1	0	RYR1	43683393	1.000000	0.71417	0.986000	0.45419	0.416000	0.31233	6.561000	0.73955	2.259000	0.74868	0.491000	0.48974	GAG		PASS	0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			14	77	14	77	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40362766	40362766	+	Missense_Mutation	SNP	G	G	C	rs551816320		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:40362766G>C	ENST00000221347.6	-	32	15311	c.15304C>G	c.(15304-15306)Cag>Gag	p.Q5102E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5102						extracellular vesicular exosome (GO:0070062)		p.Q5102E(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGCTGCCTGACAGGCCGCC	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14173	0.0		0.0	False		,,,				2504	0.0					uc002omp.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(15304-15306)CAG>GAG		Fc fragment of IgG binding protein precursor							53.0	56.0	55.0					19																	40362766		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40362766G>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15304C>G	19.37:g.40362766G>C	ENSP00000221347:p.Gln5102Glu						p.Q5102E	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15312	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5102					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15304C>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818963	0.50633	.	.	ENSG00000090920	ENST00000221347	T	0.76968	-1.06	4.93	4.93	0.64822	Uncharacterised domain, cysteine-rich (2);	0.193002	0.36628	U	0.002485	D	0.87861	0.6284	M	0.85299	2.745	0.25416	N	0.988317	D	0.71674	0.998	D	0.71184	0.972	T	0.80792	-0.1224	10	0.30854	T	0.27	.	15.1672	0.72837	0.0:0.0:1.0:0.0	.	5102	Q9Y6R7	FCGBP_HUMAN	E	5102	ENSP00000221347:Q5102E	ENSP00000221347:Q5102E	Q	-	1	0	FCGBP	45054606	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	5.479000	0.66813	2.566000	0.86566	0.462000	0.41574	CAG		PASS	0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		7	76	7	76	---	---	---	---
ZNF780A	284323	broad.mit.edu	37	19	40580841	40580841	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:40580841C>G	ENST00000595687.2	-	6	1717	c.1508G>C	c.(1507-1509)tGt>tCt	p.C503S	ZNF780A_ENST00000450241.2_Missense_Mutation_p.C469S|ZNF780A_ENST00000455521.1_Missense_Mutation_p.C504S|ZNF780A_ENST00000340963.5_Missense_Mutation_p.C503S|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.C504S|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	503					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.C504S(1)|p.C469S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACACTCCTTACATTCATAGGG	0.428																																						uc002omy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1507-1509)TGT>TCT		zinc finger protein 780A isoform b							85.0	86.0	85.0					19																	40580841		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580841C>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1508G>C	19.37:g.40580841C>G	ENSP00000472189:p.Cys503Ser					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.C503S|ZNF780A_uc010xvh.1_Missense_Mutation_p.C504S	p.C503S	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1733	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		503			C2H2-type 13.		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1508G>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	c	18.01	3.527919	0.64860	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	D;D	0.85171	-1.95;-1.95	1.93	1.93	0.25924	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93229	0.7843	H	0.94771	3.58	0.36809	D	0.885765	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.94005	0.7279	9	0.87932	D	0	.	9.4342	0.38628	0.0:1.0:0.0:0.0	.	504;503	E9PB48;O75290	.;Z780A_HUMAN	S	503;504;503	ENSP00000400997:C504S;ENSP00000341507:C503S	ENSP00000341507:C503S	C	-	2	0	ZNF780A	45272681	0.996000	0.38824	0.327000	0.25402	0.385000	0.30292	4.385000	0.59613	1.046000	0.40249	0.313000	0.20887	TGT		PASS	0.428	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		9	264	9	264	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40902216	40902216	+	Silent	SNP	G	G	C	rs56743160	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:40902216G>C	ENST00000324001.7	-	7	2313	c.2043C>G	c.(2041-2043)ccC>ccG	p.P681P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	681	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P681P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGCACCTCGGGGAGTCGAA	0.582																																						uc002onr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2041-2043)CCC>CCG		periaxin isoform 2							87.0	98.0	94.0					19																	40902216		2203	4300	6503	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902216G>C	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2043C>G	19.37:g.40902216G>C						PRX_uc002onq.2_Silent_p.P542P|PRX_uc002ons.2_3'UTR	p.P681P	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2312	-			681			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.2043C>G	CCDS33028.1																																																																																				PASS	0.582	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		8	362	8	362	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41063159	41063159	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:41063159C>G	ENST00000352632.3	+	26	5606	c.5520C>G	c.(5518-5520)ttC>ttG	p.F1840L	SPTBN4_ENST00000392025.1_Missense_Mutation_p.F583L|SPTBN4_ENST00000595535.1_Missense_Mutation_p.F1840L|SPTBN4_ENST00000598249.1_Missense_Mutation_p.F1840L|SPTBN4_ENST00000392023.1_Missense_Mutation_p.F516L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.F1840L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1840					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.F516L(1)|p.F1840L(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATAAGTTCTTCAGTGACGCCC	0.652																																						uc002ony.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5518-5520)TTC>TTG		spectrin, beta, non-erythrocytic 4 isoform							26.0	30.0	28.0					19																	41063159		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063159C>G	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5520C>G	19.37:g.41063159C>G	ENSP00000263373:p.Phe1840Leu					SPTBN4_uc002onx.2_Missense_Mutation_p.F1840L|SPTBN4_uc002onz.2_Missense_Mutation_p.F1840L|SPTBN4_uc010egx.2_Missense_Mutation_p.F583L|SPTBN4_uc002ooa.2_Missense_Mutation_p.F516L	p.F1840L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5606	+			1840			Spectrin 16.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5520C>G	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536067	0.64972	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	3.63	3.63	0.41609	.	0.000000	0.64402	D	0.000002	T	0.61388	0.2343	M	0.68952	2.095	0.38814	D	0.955498	D;P;D;P	0.76494	0.999;0.866;0.998;0.864	P;B;D;B	0.65874	0.904;0.157;0.939;0.263	T	0.60959	-0.7159	10	0.17832	T	0.49	.	14.5979	0.68419	0.0:1.0:0.0:0.0	.	583;516;1840;1840	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	L	1840;1840;1840;583;516	ENSP00000263373:F1840L;ENSP00000340345:F1840L;ENSP00000375879:F583L;ENSP00000375877:F516L	ENSP00000340345:F1840L	F	+	3	2	SPTBN4	45754999	0.997000	0.39634	1.000000	0.80357	0.918000	0.54935	3.164000	0.50770	2.036000	0.60181	0.455000	0.32223	TTC		PASS	0.652	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			18	51	18	51	---	---	---	---
RAB4B	53916	broad.mit.edu	37	19	41285940	41285940	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:41285940C>G	ENST00000594800.1	+	2	193	c.33C>G	c.(31-33)ttC>ttG	p.F11L	MIA-RAB4B_ENST00000600729.1_Missense_Mutation_p.S130C|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.F11L|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.F11L			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	11					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)	p.F46L(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCTTCAAATTCCTGGTGATTG	0.468																																						uc002opd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(31-33)TTC>TTG		ras-related GTP-binding protein 4b							119.0	103.0	108.0					19																	41285940		2203	4300	6503	SO:0001583	missense	53916				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:41285940C>G	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.33C>G	19.37:g.41285940C>G	ENSP00000470246:p.Phe11Leu					MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_RNA|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.F37L	p.F11L	NM_016154	NP_057238	P61018	RAB4B_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	143	+			11					P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.33C>G	CCDS33030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.21|18.21	3.574470|3.574470	0.65878|0.65878	.|.	.|.	ENSG00000167578|ENSG00000167578	ENST00000357052;ENST00000378307|ENST00000419646	T;T|.	0.76316|.	-1.01;-1.01|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58566|0.58566	0.2131|0.2131	N|N	0.21583|0.21583	0.68|0.68	0.58432|0.58432	D|D	0.999998|0.999998	P;B|.	0.49185|.	0.92;0.417|.	P;B|.	0.46320|.	0.512;0.272|.	T|T	0.63492|0.63492	-0.6625|-0.6625	10|6	0.66056|0.87932	D|D	0.02|0	.|.	17.9587|17.9587	0.89078|0.89078	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	46;11|.	P61018-2;P61018|.	.;RAB4B_HUMAN|.	L|C	11|130	ENSP00000349560:F11L;ENSP00000367557:F11L|.	ENSP00000349560:F11L|ENSP00000411808:S130C	F|S	+|+	3|2	2|0	RAB4B|RAB4B	45977780|45977780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.656000|4.656000	0.61483|0.61483	2.533000|2.533000	0.85409|0.85409	0.485000|0.485000	0.47835|0.47835	TTC|TCC		PASS	0.468	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		9	183	9	183	---	---	---	---
CYP2S1	29785	broad.mit.edu	37	19	41707208	41707208	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:41707208G>T	ENST00000310054.4	+	6	1123	c.907G>T	c.(907-909)Ggg>Tgg	p.G303W	CYP2S1_ENST00000542619.1_Missense_Mutation_p.G28W	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	303					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.G303W(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GCTGTTTGCTGGGACGATGAC	0.507																																						uc002opw.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(907-909)GGG>TGG		cytochrome P450, family 2, subfamily S,							150.0	136.0	141.0					19																	41707208		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41707208G>T	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.907G>T	19.37:g.41707208G>T	ENSP00000308032:p.Gly303Trp					CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Missense_Mutation_p.G28W	p.G303W	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN			6	962	+			303					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.907G>T	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431821	0.62844	.	.	ENSG00000167600	ENST00000301173;ENST00000310054;ENST00000542619	D;D	0.86097	-2.07;-2.07	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.95079	0.8406	H	0.97103	3.94	0.50632	D	0.999886	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96649	0.9480	10	0.87932	D	0	.	16.2815	0.82692	0.0:0.0:1.0:0.0	.	28;303	B4DJI0;Q96SQ9	.;CP2S1_HUMAN	W	303;303;28	ENSP00000308032:G303W;ENSP00000445299:G28W	ENSP00000301173:G303W	G	+	1	0	CYP2S1	46399048	1.000000	0.71417	0.905000	0.35620	0.386000	0.30323	8.061000	0.89467	2.433000	0.82419	0.478000	0.44815	GGG		PASS	0.507	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			43	236	43	236	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42213743	42213743	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:42213743G>C	ENST00000221992.6	+	2	323	c.209G>C	c.(208-210)gGt>gCt	p.G70A	CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G70A|CEA_ENST00000598976.1_Missense_Mutation_p.G70A|CEACAM5_ENST00000405816.1_Missense_Mutation_p.G70A	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	70	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.G70A(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGGTACAAAGGTGAAAGAGTG	0.483																																						uc002ork.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(208-210)GGT>GCT		carcinoembryonic antigen-related cell adhesion							152.0	148.0	149.0					19																	42213743		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213743G>C	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.209G>C	19.37:g.42213743G>C	ENSP00000221992:p.Gly70Ala					CEACAM5_uc010ehz.1_Missense_Mutation_p.G70A|CEACAM5_uc002orj.1_Missense_Mutation_p.G70A|CEACAM5_uc002orl.2_Missense_Mutation_p.G70A	p.G70A	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	330	+			70			Ig-like 1.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.209G>C	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.34|12.34	1.907392|1.907392	0.33628|0.33628	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.01745|.	4.66;4.66|.	3.09|3.09	1.99|1.99	0.26369|0.26369	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.77061|0.77061	0.4075|0.4075	H|H	0.97806|0.97806	4.08|4.08	0.09310|0.09310	N|N	1|1	P;D;P|.	0.89917|.	0.86;1.0;0.934|.	D;D;D|.	0.87578|.	0.958;0.998;0.964|.	T|T	0.66972|0.66972	-0.5788|-0.5788	9|5	0.56958|.	D|.	0.05|.	.|.	7.9253|7.9253	0.29870|0.29870	0.0:0.2564:0.7436:0.0|0.0:0.2564:0.7436:0.0	.|.	70;70;70|.	Q8N4D0;P06731;Q53G30|.	.;CEAM5_HUMAN;.|.	A|S	70|66	ENSP00000221992:G70A;ENSP00000385072:G70A|.	ENSP00000221992:G70A|.	G|R	+|+	2|3	0|2	CEACAM5|CEACAM5	46905583|46905583	0.273000|0.273000	0.24181|0.24181	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	0.931000|0.931000	0.28871|0.28871	0.604000|0.604000	0.29930|0.29930	0.305000|0.305000	0.20034|0.20034	GGT|AGG		PASS	0.483	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		33	128	33	128	---	---	---	---
LIPE	3991	broad.mit.edu	37	19	42910326	42910326	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:42910326G>C	ENST00000244289.4	-	7	2628	c.2352C>G	c.(2350-2352)gtC>gtG	p.V784V	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	784					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.V784V(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CATAGGCGCTGACACACTTGG	0.647																																						uc002otr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(2350-2352)GTC>GTG		hormone-sensitive lipase							48.0	44.0	45.0					19																	42910326		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42910326G>C	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2352C>G	19.37:g.42910326G>C						uc010eif.1_Intron	p.V784V	NM_005357	NP_005348	Q05469	LIPS_HUMAN			7	2629	-		Prostate(69;0.00682)	784					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.2352C>G	CCDS12607.1																																																																																				PASS	0.647	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		13	79	13	79	---	---	---	---
APOC2	344	broad.mit.edu	37	19	45452058	45452058	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:45452058G>C	ENST00000590360.1	+	3	278	c.156G>C	c.(154-156)aaG>aaC	p.K52N	APOC4_ENST00000419266.2_3'UTR|APOC2_ENST00000591597.1_Missense_Mutation_p.K52N|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.K129N|APOC2_ENST00000585786.1_Missense_Mutation_p.K52N|APOC2_ENST00000252490.4_Missense_Mutation_p.K52N|APOC2_ENST00000592257.1_Missense_Mutation_p.D32H			P02655	APOC2_HUMAN	apolipoprotein C-II	52					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)	p.K52N(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)	6	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		AGTCAGCAAAGACAGCCGCCC	0.572																																						uc002pah.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(154-156)AAG>AAC		apolipoprotein C-II precursor							102.0	107.0	105.0					19																	45452058		2203	4300	6503	SO:0001583	missense	344				cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle clearance|lipid catabolic process|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of lipid metabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of phospholipase activity|positive regulation of phospholipid catabolic process|positive regulation of triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	chylomicron|intermediate-density lipoprotein particle|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	lipase inhibitor activity|lipid binding|lipoprotein lipase activator activity|phospholipase activator activity|phospholipase binding|protein homodimerization activity	g.chr19:45452058G>C	X00568	CCDS12650.1	19q13.2	2013-01-24			ENSG00000234906	ENSG00000234906		"""Apolipoproteins"""	609	protein-coding gene	gene with protein product		608083					Standard	NM_000483		Approved			P02655	OTTHUMG00000180847	ENST00000590360.1:c.156G>C	19.37:g.45452058G>C	ENSP00000466775:p.Lys52Asn						p.K52N	NM_000483	NP_000474	P02655	APOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	3	259	+	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)	52					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000590360.1	37	c.156G>C	CCDS12650.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385917	0.42308	.	.	ENSG00000234906	ENST00000252490	D	0.84370	-1.84	3.56	-0.203	0.13204	ApoC-II domain (1);	0.497527	0.16604	U	0.207233	D	0.88343	0.6411	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.76868	-0.2800	10	0.26408	T	0.33	-12.8492	5.4227	0.16409	0.5185:0.0:0.4815:0.0	.	52	P02655	APOC2_HUMAN	N	52	ENSP00000252490:K52N	ENSP00000252490:K52N	K	+	3	2	APOC2	50143898	0.080000	0.21391	0.134000	0.22075	0.055000	0.15305	0.076000	0.14712	0.184000	0.20083	0.449000	0.29647	AAG		PASS	0.572	APOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453261.1	NM_000483		87	81	87	81	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45803085	45803085	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:45803085G>C	ENST00000262891.4	+	16	2225	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	MARK4_ENST00000300843.4_Silent_p.L658L	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	632					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.L658L(1)|p.E632Q(1)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGACGAACCTGAGAGAATCGG	0.622																																						uc002pbb.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	central_nervous_system(2)|large_intestine(1)	3						c.(1894-1896)GAG>CAG		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							108.0	84.0	92.0					19																	45803085		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45803085G>C	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1894G>C	19.37:g.45803085G>C	ENSP00000262891:p.Glu632Gln					MARK4_uc002pba.1_Silent_p.L658L	p.E632Q			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	16	1899	+		all_neural(266;0.224)|Ovarian(192;0.231)	632					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.1894G>C	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490151	0.64074	.	.	ENSG00000007047	ENST00000262891	T	0.48836	0.8	5.15	5.15	0.70609	.	0.202303	0.29113	N	0.013117	T	0.42040	0.1185	.	.	.	0.80722	D	1	B	0.22604	0.072	B	0.20955	0.032	T	0.28650	-1.0037	9	0.46703	T	0.11	.	16.1167	0.81309	0.0:0.0:1.0:0.0	.	632	Q96L34	MARK4_HUMAN	Q	632	ENSP00000262891:E632Q	ENSP00000262891:E632Q	E	+	1	0	MARK4	50494925	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.021000	0.93673	2.372000	0.80975	0.462000	0.41574	GAG		PASS	0.622	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		11	39	11	39	---	---	---	---
NPAS1	4861	broad.mit.edu	37	19	47548655	47548655	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:47548655C>T	ENST00000602212.1	+	12	1739	c.1519C>T	c.(1519-1521)Ccg>Tcg	p.P507S	NPAS1_ENST00000449844.2_Missense_Mutation_p.P507S|NPAS1_ENST00000602189.1_Missense_Mutation_p.P332S|NPAS1_ENST00000439365.2_3'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	507					central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P507S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GAAGCAGGATCCGGTGCGGCC	0.741																																						uc002pfw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1519-1521)CCG>TCG		neuronal PAS domain protein 1							19.0	23.0	21.0					19																	47548655		2201	4298	6499	SO:0001583	missense	4861				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr19:47548655C>T	U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.1519C>T	19.37:g.47548655C>T	ENSP00000469142:p.Pro507Ser					NPAS1_uc002pfx.2_Missense_Mutation_p.P332S|NPAS1_uc002pfy.2_Missense_Mutation_p.P507S|NPAS1_uc010xyj.1_3'UTR	p.P507S	NM_002517	NP_002508	Q99742	NPAS1_HUMAN		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)	12	1715	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	507					B4DR69|Q99632|Q9BY83	Missense_Mutation	SNP	ENST00000602212.1	37	c.1519C>T	CCDS12694.1	.	.	.	.	.	.	.	.	.	.	c	2.994	-0.207611	0.06180	.	.	ENSG00000130751	ENST00000449844	T	0.25579	1.79	3.69	-2.46	0.06461	.	2.437000	0.02554	N	0.095950	T	0.12518	0.0304	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18147	-1.0346	10	0.02654	T	1	.	4.1905	0.10419	0.1342:0.3858:0.3819:0.0981	.	507	Q99742	NPAS1_HUMAN	S	507	ENSP00000405290:P507S	ENSP00000405290:P507S	P	+	1	0	NPAS1	52240495	0.000000	0.05858	0.008000	0.14137	0.041000	0.13682	0.105000	0.15333	-0.058000	0.13177	0.306000	0.20318	CCG		PASS	0.741	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	NM_002517		30	18	30	18	---	---	---	---
CA11	770	broad.mit.edu	37	19	49142645	49142645	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:49142645G>C	ENST00000084798.4	-	7	1391	c.712C>G	c.(712-714)Cag>Gag	p.Q238E	DBP_ENST00000222122.5_5'Flank|DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	238						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)		p.Q238E(1)|p.Q238*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	AGAGAGCCCTGATAGGTGATG	0.562																																						uc002pjz.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|breast(1)		0						c.(712-714)CAG>GAG		carbonic anhydrase XI precursor							69.0	70.0	69.0					19																	49142645		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49142645G>C	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.712C>G	19.37:g.49142645G>C	ENSP00000084798:p.Gln238Glu					SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	p.Q238E	NM_001217	NP_001208	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	7	1274	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	238					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.712C>G	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	G	1.442	-0.567454	0.03910	.	.	ENSG00000063180	ENST00000084798	T	0.71579	-0.58	3.22	2.13	0.27403	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.069138	0.56097	D	0.000021	T	0.36166	0.0957	N	0.02539	-0.55	0.31490	N	0.666079	B	0.12013	0.005	B	0.14578	0.011	T	0.41502	-0.9505	10	0.02654	T	1	.	8.2315	0.31601	0.0:0.2471:0.7529:0.0	.	238	O75493	CAH11_HUMAN	E	238	ENSP00000084798:Q238E	ENSP00000084798:Q238E	Q	-	1	0	CA11	53834457	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.433000	0.52834	0.658000	0.30925	0.455000	0.32223	CAG		PASS	0.562	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		3	72	3	72	---	---	---	---
CA11	770	broad.mit.edu	37	19	49143373	49143373	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:49143373G>C	ENST00000084798.4	-	4	1129	c.450C>G	c.(448-450)aaC>aaG	p.N150K	DBP_ENST00000222122.5_5'Flank|DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	150						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)		p.N150K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	AGCCCTGGTGGTTGATCTGAT	0.587																																						uc002pjz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)AAC>AAG		carbonic anhydrase XI precursor							96.0	83.0	88.0					19																	49143373		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49143373G>C	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.450C>G	19.37:g.49143373G>C	ENSP00000084798:p.Asn150Lys					SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	p.N150K	NM_001217	NP_001208	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	4	1012	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	150					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.450C>G	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716613	0.68844	.	.	ENSG00000063180	ENST00000084798	T	0.67698	-0.28	3.45	0.0363	0.14191	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	M	0.87097	2.86	0.43164	D	0.994959	P	0.45634	0.863	P	0.54856	0.762	T	0.72404	-0.4304	10	0.62326	D	0.03	.	5.1653	0.15082	0.4412:0.0:0.5588:0.0	.	150	O75493	CAH11_HUMAN	K	150	ENSP00000084798:N150K	ENSP00000084798:N150K	N	-	3	2	CA11	53835185	0.999000	0.42202	0.991000	0.47740	0.956000	0.61745	0.346000	0.19997	0.244000	0.21351	0.462000	0.41574	AAC		PASS	0.587	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		10	87	10	87	---	---	---	---
CGB7	94027	broad.mit.edu	37	19	49557573	49557573	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:49557573G>C	ENST00000597853.1	-	5	3344	c.473C>G	c.(472-474)tCa>tGa	p.S158*	CGB7_ENST00000356213.4_Nonsense_Mutation_p.S156*|CGB7_ENST00000596965.1_Nonsense_Mutation_p.S158*|CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000377280.3_Nonsense_Mutation_p.S158*			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	158					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.S158*(1)		lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CGGGGTGTCTGAGGGCCCCGG	0.627																																						uc002pmd.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(472-474)TCA>TGA		chorionic gonadotropin, beta polypeptide 7	Choriogonadotropin alfa(DB00097)						31.0	31.0	31.0					19																	49557573		1502	2659	4161	SO:0001587	stop_gained	94027				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49557573G>C	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.473C>G	19.37:g.49557573G>C	ENSP00000470813:p.Ser158*					CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Nonsense_Mutation_p.S158*	p.S158*	NM_033142	NP_149133	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	838	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	158					A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Nonsense_Mutation	SNP	ENST00000597853.1	37	c.473C>G	CCDS33071.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168895	0.57584	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	.	.	.	1.61	1.61	0.23674	.	.	.	.	.	.	.	.	.	.	.	0.23802	N	0.996803	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.6621	0.23020	0.0:0.0:1.0:0.0	.	.	.	.	X	158;156	.	ENSP00000348545:S156X	S	-	2	0	CGB7	54249385	0.001000	0.12720	0.108000	0.21378	0.002000	0.02628	0.754000	0.26390	1.196000	0.43129	0.205000	0.17691	TCA		PASS	0.627	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1	NM_033142		3	125	3	125	---	---	---	---
TRPM4	54795	broad.mit.edu	37	19	49675295	49675296	+	Silent	DNP	CC	CC	TT			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:49675295_49675296CC>TT	ENST00000252826.5	+	9	1206_1207	c.1080_1081CC>TT	c.(1078-1083)ctCCtg>ctTTtg	p.360_361LL>LL	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.360_361LL>LL	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	360					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.L361L(1)|p.(=)(1)|p.L360L(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGAAGGAGCTCCTGACAGTCTA	0.54																																						uc002pmw.2																			3	Substitution - coding silent(2)|Unknown(1)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(1078-1080)CTC>CTT|c.(1081-1083)CTG>TTG		transient receptor potential cation channel,																																				SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49675295C>T|g.chr19:49675296C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		Exception_encountered	19.37:g.49675295_49675296delinsTT						TRPM4_uc010emu.2_Silent_p.L360L|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Silent_p.L186L|TRPM4_uc010emv.2_Silent_p.L245L|TRPM4_uc010yal.1_Intron|TRPM4_uc010emu.2_Silent_p.L361L|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Silent_p.L187L|TRPM4_uc010emv.2_Silent_p.L246L|TRPM4_uc010yal.1_Intron	p.L360L|p.L361L	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	9	1152|1153	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	360|361			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.1080C>T|c.1081C>T	CCDS33073.1																																																																																				PASS	0.540	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		17|18	71|72	17	71	---	---	---	---
TBC1D17	79735	broad.mit.edu	37	19	50387614	50387614	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:50387614C>T	ENST00000221543.5	+	11	1530	c.1231C>T	c.(1231-1233)Cac>Tac	p.H411Y	TBC1D17_ENST00000535102.2_Missense_Mutation_p.H378Y	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	411	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)	p.H411Y(1)		NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTGCATGTATCACTTCGACCT	0.662																																						uc002pqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1231-1233)CAC>TAC		TBC1 domain family, member 17							146.0	143.0	144.0					19																	50387614		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50387614C>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1231C>T	19.37:g.50387614C>T	ENSP00000221543:p.His411Tyr					TBC1D17_uc010ybg.1_Missense_Mutation_p.H378Y|TBC1D17_uc002pqp.2_Missense_Mutation_p.H62Y|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.H62Y|TBC1D17_uc002pqs.2_RNA	p.H411Y	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	11	1383	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	411			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1231C>T	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726740	0.48833	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.04551	3.6;3.6	5.33	4.26	0.50523	Rab-GAP/TBC domain (4);	0.056069	0.64402	D	0.000001	T	0.09730	0.0239	L	0.58810	1.83	0.42148	D	0.991547	P;P	0.43788	0.817;0.6	B;P	0.46885	0.395;0.53	T	0.02676	-1.1125	10	0.62326	D	0.03	-28.4048	11.2891	0.49239	0.3533:0.6467:0.0:0.0	.	378;411	F5H1W7;Q9HA65	.;TBC17_HUMAN	Y	411;378	ENSP00000221543:H411Y;ENSP00000446323:H378Y	ENSP00000221543:H411Y	H	+	1	0	TBC1D17	55079426	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.222000	0.32515	1.151000	0.42436	0.561000	0.74099	CAC		PASS	0.662	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		7	344	7	344	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51955867	51955867	+	Missense_Mutation	SNP	C	C	A	rs267605612		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:51955867C>A	ENST00000321424.3	-	7	1332	c.1266G>T	c.(1264-1266)tgG>tgT	p.W422C	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.W313C|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W329C|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	422					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.W422C(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGCCATCTTTCCAGGATTCAG	0.587																																						uc002pwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1264-1266)TGG>TGT		sialic acid binding Ig-like lectin 8 precursor							26.0	29.0	28.0					19																	51955867		2197	4295	6492	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51955867C>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1266G>T	19.37:g.51955867C>A	ENSP00000321077:p.Trp422Cys					SIGLEC8_uc010yda.1_Missense_Mutation_p.W313C|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.W329C	p.W422C	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	7	1333	-		all_neural(266;0.0199)	422			Cytoplasmic (Potential).		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1266G>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	2.522	-0.310621	0.05458	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.60672	1.52;0.17;1.27	2.55	-1.23	0.09465	.	.	.	.	.	T	0.48714	0.1515	M	0.68593	2.085	0.09310	N	1	B;B;B	0.24186	0.012;0.046;0.099	B;B;B	0.19946	0.004;0.023;0.027	T	0.40156	-0.9578	9	0.42905	T	0.14	.	4.7666	0.13135	0.2252:0.3691:0.4057:0.0	.	313;329;422	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	C	313;422;329	ENSP00000389142:W313C;ENSP00000321077:W422C;ENSP00000339448:W329C	ENSP00000321077:W422C	W	-	3	0	SIGLEC8	56647679	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.041000	0.03542	-0.531000	0.06340	0.502000	0.49764	TGG		PASS	0.587	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		12	54	12	54	---	---	---	---
ZNF615	284370	broad.mit.edu	37	19	52496580	52496580	+	Silent	SNP	G	G	A	rs147050024		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:52496580G>A	ENST00000602063.1	-	6	2098	c.1749C>T	c.(1747-1749)ctC>ctT	p.L583L	ZNF615_ENST00000376716.5_Silent_p.L583L|ZNF615_ENST00000391795.3_Silent_p.L588L|ZNF615_ENST00000598071.1_Silent_p.L594L|ZNF615_ENST00000594083.1_Silent_p.L594L			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	583					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.L594L(1)|p.L583L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GATGTGCAATGAGCATGCTTT	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22946	0.0		0.0	False		,,,				2504	0.0					uc002pye.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(1747-1749)CTC>CTT		zinc finger protein 615		G	,	1,4405	2.1+/-5.4	0,1,2202	121.0	105.0	110.0		1782,1749	-5.1	0.2	19	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF615	NM_001199324.1,NM_198480.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	594/743,583/732	52496580	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496580G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1749C>T	19.37:g.52496580G>A						ZNF615_uc002pyf.1_Silent_p.L594L|ZNF615_uc002pyg.1_Silent_p.L475L|ZNF615_uc002pyh.1_Silent_p.L594L|ZNF615_uc010epi.1_Silent_p.L590L|ZNF615_uc010ydg.1_Silent_p.L588L	p.L583L	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2041	-		all_neural(266;0.117)	583			C2H2-type 14.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.1749C>T	CCDS12846.1																																																																																				PASS	0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		5	273	5	273	---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52725424	52725424	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:52725424G>C	ENST00000322088.6	+	13	1649	c.1591G>C	c.(1591-1593)Gac>Cac	p.D531H	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.D476H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.D352H|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	531	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.D531H(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGCTGGGGACCCGGTTGC	0.607			Mis		clear cell ovarian carcinoma																																	uc002pyp.2				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		1	Substitution - Missense(1)		lung(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1591-1593)GAC>CAC		alpha isoform of regulatory subunit A, protein							86.0	70.0	76.0					19																	52725424		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52725424G>C		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1591G>C	19.37:g.52725424G>C	ENSP00000324804:p.Asp531His					PPP2R1A_uc010ydk.1_Missense_Mutation_p.D476H|PPP2R1A_uc002pyq.2_Missense_Mutation_p.D352H	p.D531H	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	13	1750	+			531			PP2A subunit C binding.|HEAT 14.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1591G>C	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414676	0.83449	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.51071	0.72;0.72	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.78972	0.4368	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86016	0.1504	10	0.87932	D	0	-31.6295	15.6642	0.77213	0.0:0.0:1.0:0.0	.	476;531	F5H3X9;P30153	.;2AAA_HUMAN	H	521;451;531;98;476	ENSP00000324804:D531H;ENSP00000415067:D476H	ENSP00000324804:D531H	D	+	1	0	PPP2R1A	57417236	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.470000	0.90399	2.636000	0.89361	0.655000	0.94253	GAC		PASS	0.607	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		5	37	5	37	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53667918	53667918	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:53667918G>T	ENST00000600412.1	-	2	1745	c.1630C>A	c.(1630-1632)Caa>Aaa	p.Q544K	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.Q609K			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	544					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.Q544K(1)|p.Q609K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGTGAATTTTGAGTGAAGACC	0.398																																						uc010eqm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1825-1827)CAA>AAA		zinc finger protein 665							110.0	114.0	113.0					19																	53667918		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53667918G>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1630C>A	19.37:g.53667918G>T	ENSP00000469154:p.Gln544Lys						p.Q609K	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1925	-			544			C2H2-type 16.		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1825C>A		.	.	.	.	.	.	.	.	.	.	G	7.668	0.686340	0.14973	.	.	ENSG00000197497	ENST00000396424	T	0.35421	1.31	2.3	-4.6	0.03390	.	.	.	.	.	T	0.14614	0.0353	N	0.11673	0.155	0.09310	N	1	P	0.39326	0.668	B	0.35240	0.198	T	0.16335	-1.0406	9	0.27082	T	0.32	.	7.0083	0.24848	0.0:0.2662:0.3742:0.3596	.	609	Q9H7R5-2	.	K	609	ENSP00000379702:Q609K	ENSP00000379702:Q609K	Q	-	1	0	ZNF665	58359730	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.075000	0.14686	-1.707000	0.01402	-0.385000	0.06624	CAA		PASS	0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		36	141	36	141	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55147045	55147045	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:55147045G>A	ENST00000396331.1	+	14	1992	c.1635G>A	c.(1633-1635)gtG>gtA	p.V545V	LILRB1_ENST00000396315.1_Silent_p.V546V|LILRB1_ENST00000418536.2_Silent_p.V529V|LILRB1_ENST00000396327.3_Silent_p.V546V|LILRB1_ENST00000324602.7_Silent_p.V546V|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.V595V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_Silent_p.V545V|LILRB1_ENST00000396317.1_Silent_p.V529V|LILRB1_ENST00000396321.2_Silent_p.V545V|LILRB1_ENST00000396332.4_Silent_p.V545V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	545					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.V545V(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)		AGGATGGGGTGGAGATGGACA	0.612										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1633-1635)GTG>GTA		leukocyte immunoglobulin-like receptor,							109.0	115.0	113.0					19																	55147045		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55147045G>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.1635G>A	19.37:g.55147045G>A		HNSCC(37;0.09)				LILRB1_uc010erp.1_Silent_p.V160V|LILRB1_uc002qgl.2_Silent_p.V545V|LILRB1_uc002qgk.2_Silent_p.V546V|LILRB1_uc002qgm.2_Silent_p.V546V|LILRB1_uc010erq.2_Silent_p.V529V|LILRB1_uc010err.2_RNA	p.V545V	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	14	1975	+			545			Cytoplasmic (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1635G>A	CCDS42617.1																																																																																				PASS	0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			35	122	35	122	---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55396759	55396759	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:55396759G>A	ENST00000355524.3	+	3	193	c.183G>A	c.(181-183)atG>atA	p.M61I	FCAR_ENST00000469767.1_Missense_Mutation_p.M61I|FCAR_ENST00000391724.3_Missense_Mutation_p.M49I|FCAR_ENST00000391723.3_Missense_Mutation_p.M49I|FCAR_ENST00000391726.3_Missense_Mutation_p.M49I|FCAR_ENST00000391725.3_Missense_Mutation_p.M61I|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.M61I|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000359272.4_Missense_Mutation_p.M49I	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	61	Ig-like C2-type 1.				immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.M61I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCCAGCTGATGATCATAAAAA	0.468																																						uc002qhr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(181-183)ATG>ATA		Fc alpha receptor isoform a precursor							115.0	105.0	109.0					19																	55396759		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55396759G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.183G>A	19.37:g.55396759G>A	ENSP00000347714:p.Met61Ile					FCAR_uc002qhq.2_Missense_Mutation_p.M61I|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.M34I|FCAR_uc010esi.1_Missense_Mutation_p.M34I|FCAR_uc002qhu.1_Missense_Mutation_p.M61I|FCAR_uc002qhv.1_Missense_Mutation_p.M61I|FCAR_uc002qhw.1_Missense_Mutation_p.M49I|FCAR_uc002qhx.1_Missense_Mutation_p.M49I|FCAR_uc002qhy.1_Missense_Mutation_p.M49I|FCAR_uc002qhz.1_Missense_Mutation_p.M49I|FCAR_uc002qia.1_Intron	p.M61I	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	3	380	+			61			Extracellular (Potential).|Ig-like C2-type 1.		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.183G>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	G	5.295	0.239887	0.10023	.	.	ENSG00000186431	ENST00000433231;ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000359272;ENST00000391723;ENST00000391724	T;T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85;2.85	3.05	-2.33	0.06724	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.645900	0.04383	N	0.361177	T	0.08492	0.0211	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B;B;B;B	0.33345	0.121;0.13;0.212;0.117;0.101;0.409;0.117;0.135	B;B;B;B;B;B;B;B	0.33750	0.037;0.046;0.094;0.025;0.169;0.133;0.025;0.056	T	0.29852	-0.9998	10	0.27082	T	0.32	.	1.3301	0.02133	0.1236:0.1874:0.3076:0.3814	.	49;49;49;49;61;61;61;61	Q92588;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071;P24071-4	.;.;.;.;.;.;FCAR_HUMAN;.	I	61;49;61;61;61;49;49;49	ENSP00000375606:M49I;ENSP00000347714:M61I;ENSP00000375605:M61I;ENSP00000338257:M61I;ENSP00000352218:M49I;ENSP00000375603:M49I;ENSP00000375604:M49I	ENSP00000338257:M61I	M	+	3	0	FCAR	60088571	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.250000	0.02885	-0.348000	0.08286	0.563000	0.77884	ATG		PASS	0.468	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		12	71	12	71	---	---	---	---
TNNI3	7137	broad.mit.edu	37	19	55666173	55666173	+	Missense_Mutation	SNP	C	C	A	rs371000425		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:55666173C>A	ENST00000344887.5	-	6	450	c.308G>T	c.(307-309)cGt>cTt	p.R103L	TNNI3_ENST00000588882.1_Missense_Mutation_p.R78L|TNNI3_ENST00000590463.1_5'UTR|CTD-2587H24.4_ENST00000587871.1_3'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	103					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)	p.R103H(1)|p.R103L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTTGTCCACACGGGCGTGGAG	0.572																																						uc002qjg.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(1)|pancreas(1)	2						c.(307-309)CGT>CTT		troponin I, cardiac							128.0	126.0	127.0					19																	55666173		2121	4234	6355	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55666173C>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.308G>T	19.37:g.55666173C>A	ENSP00000341838:p.Arg103Leu					TNNI3_uc010yft.1_Missense_Mutation_p.R95L	p.R103L	NM_000363	NP_000354	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	6	308	-			103						Missense_Mutation	SNP	ENST00000344887.5	37	c.308G>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433426	0.43224	.	.	ENSG00000129991	ENST00000344887	D	0.94687	-3.49	4.41	3.38	0.38709	.	0.118259	0.32736	N	0.005703	D	0.90459	0.7012	L	0.51853	1.615	0.19775	N	0.99996	B	0.34349	0.45	B	0.31337	0.128	D	0.84374	0.0545	10	0.62326	D	0.03	-35.6176	8.5508	0.33451	0.0:0.8065:0.0:0.1935	.	103	P19429	TNNI3_HUMAN	L	103	ENSP00000341838:R103L	ENSP00000341838:R103L	R	-	2	0	TNNI3	60357985	0.000000	0.05858	0.516000	0.27786	0.971000	0.66376	0.214000	0.17541	0.999000	0.39023	0.484000	0.47621	CGT		PASS	0.572	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			9	33	9	33	---	---	---	---
DNAAF3	352909	broad.mit.edu	37	19	55671358	55671359	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:55671358_55671359TG>CT	ENST00000524407.2	-	10	1104_1105	c.1071_1072CA>AG	c.(1069-1074)ttCAcc>ttAGcc	p.357_358FT>LA	DNAAF3_ENST00000391720.4_Missense_Mutation_p.404_405FT>LA|TNNI3_ENST00000344887.5_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000527223.2_Missense_Mutation_p.424_425FT>LA|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.H19S|DNAAF3_ENST00000455045.1_Missense_Mutation_p.303_304FT>LA|DNAAF3_ENST00000587789.2_5'UTR			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	357					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)		p.F404_T405>LA(1)|p.F404L(1)|p.T405A(1)									AAGTGGACGGTGAAAGATTCCG	0.599																																						uc002qji.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)		0						c.(1072-1074)ACC>GCC|c.(1069-1071)TTC>TTA		RecName: Full=UPF0470 protein C19orf51;																																				SO:0001583	missense	352909							g.chr19:55671358T>C|g.chr19:55671359G>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1071_1072delinsCT	19.37:g.55671358_55671359delinsCT	ENSP00000432046:p.F357_T358delinsLA					TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.T173A|C19orf51_uc002qjj.1_Missense_Mutation_p.T405A|C19orf51_uc002qjk.1_Missense_Mutation_p.T304A|C19orf51_uc002qjl.1_Missense_Mutation_p.T425A|TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.F172L|C19orf51_uc002qjj.1_Missense_Mutation_p.F404L|C19orf51_uc002qjk.1_Missense_Mutation_p.F303L|C19orf51_uc002qjl.1_Missense_Mutation_p.F424L	p.T358A|p.F357L			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	10	1106|1105	-			358|357					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.1072A>G|c.1071C>A	CCDS59422.1																																																																																				PASS	0.599	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		5	53|54	5	53	---	---	---	---
ZNF71	58491	broad.mit.edu	37	19	57133271	57133271	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:57133271C>T	ENST00000328070.6	+	3	850	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	206					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.R206C(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGTGCACCAGCGCACGCACAC	0.652																																						uc002qnm.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(616-618)CGC>TGC		zinc finger protein 71							46.0	41.0	43.0					19																	57133271		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133271C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.616C>T	19.37:g.57133271C>T	ENSP00000328245:p.Arg206Cys						p.R206C	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	854	+			206			C2H2-type 3.		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.616C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149267	0.57151	.	.	ENSG00000197951	ENST00000328070	T	0.02472	4.28	3.47	-0.38	0.12490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14056	0.0340	M	0.82433	2.59	0.28276	N	0.924207	D	0.89917	1.0	D	0.80764	0.994	T	0.02661	-1.1127	9	0.87932	D	0	.	11.3284	0.49463	0.4447:0.5553:0.0:0.0	.	206	Q9NQZ8	ZNF71_HUMAN	C	206	ENSP00000328245:R206C	ENSP00000328245:R206C	R	+	1	0	ZNF71	61825083	0.000000	0.05858	0.968000	0.41197	0.823000	0.46562	-0.211000	0.09332	0.149000	0.19098	0.561000	0.74099	CGC		PASS	0.652	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		11	37	11	37	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57325348	57325348	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:57325348C>T	ENST00000326441.9	-	10	4825	c.4462G>A	c.(4462-4464)Gaa>Aaa	p.E1488K	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1488K|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1362K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1364K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1488	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E1488K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTGGGTCTTCAATTCCCACA	0.493																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4462-4464)GAA>AAA		paternally expressed 3 isoform 1							152.0	140.0	144.0					19																	57325348		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325348C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4462G>A	19.37:g.57325348C>T	ENSP00000326581:p.Glu1488Lys					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1459K|PEG3_uc002qnv.2_Missense_Mutation_p.E1488K|PEG3_uc002qnw.2_Missense_Mutation_p.E1364K|PEG3_uc002qnx.2_Missense_Mutation_p.E1362K|PEG3_uc010etr.2_Missense_Mutation_p.E1488K	p.E1488K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4813	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1488			Glu-rich.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4462G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806779	0.50421	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02944	4.1;4.1	4.18	4.18	0.49190	.	0.159034	0.29876	N	0.010969	T	0.04543	0.0124	L	0.29908	0.895	.	.	.	D;D;P	0.56968	0.978;0.97;0.9	P;P;B	0.51833	0.632;0.681;0.307	T	0.51244	-0.8730	9	0.27785	T	0.31	-17.0476	12.3002	0.54870	0.0:1.0:0.0:0.0	.	1364;1488;1423	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	1488	ENSP00000326581:E1488K;ENSP00000403051:E1488K	ENSP00000326581:E1488K	E	-	1	0	ZIM2	62017160	0.821000	0.29204	0.730000	0.30809	0.408000	0.30992	1.971000	0.40530	2.612000	0.88384	0.650000	0.86243	GAA		PASS	0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			13	239	13	239	---	---	---	---
ZIK1	284307	broad.mit.edu	37	19	58101644	58101644	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:58101644G>A	ENST00000597850.1	+	4	680	c.465G>A	c.(463-465)gtG>gtA	p.V155V	ZIK1_ENST00000599456.1_Silent_p.V100V|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.V142V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	155					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.V155V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		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;0.0257)		CCTCATATGTGAAGTGCTGCC	0.483																																						uc002qpg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(463-465)GTG>GTA		zinc finger protein interacting with K protein							91.0	78.0	83.0					19																	58101644		2203	4300	6503	SO:0001819	synonymous_variant	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101644G>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.465G>A	19.37:g.58101644G>A						ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Silent_p.V100V|ZIK1_uc002qpi.2_Silent_p.V142V|ZIK1_uc002qpj.2_Silent_p.V52V	p.V155V	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	562	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	155					O43339|Q3SY51|Q3SY53	Silent	SNP	ENST00000597850.1	37	c.465G>A	CCDS33135.1																																																																																				PASS	0.483	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		18	79	18	79	---	---	---	---
ZNF776	284309	broad.mit.edu	37	19	58265642	58265642	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr19:58265642G>A	ENST00000317178.5	+	3	1407	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	382					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.G340R(1)|p.G382R(1)		cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TACGGCATGTGGGAAGTTATT	0.433																																						uc002qpx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1144-1146)GGG>AGG		zinc finger protein 776							124.0	111.0	116.0					19																	58265642		2203	4300	6503	SO:0001583	missense	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58265642G>A	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1144G>A	19.37:g.58265642G>A	ENSP00000321812:p.Gly382Arg					ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.G382R	p.G382R	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1367	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	382			C2H2-type 7.		Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.1144G>A	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964261	0.74131	.	.	ENSG00000152443	ENST00000317178	T	0.07444	3.19	1.86	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28928	0.0718	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.97110	0.882;1.0	T	0.10567	-1.0624	9	0.66056	D	0.02	.	10.6885	0.45856	0.0:0.0:1.0:0.0	.	382;382	Q68DI1;B4DSC6	ZN776_HUMAN;.	R	382	ENSP00000321812:G382R	ENSP00000321812:G382R	G	+	1	0	ZNF776	62957454	0.998000	0.40836	0.437000	0.26809	0.322000	0.28314	2.779000	0.47734	1.027000	0.39758	0.313000	0.20887	GGG		PASS	0.433	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		34	117	34	117	---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1903162	1903162	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:1903162G>C	ENST00000358771.4	+	4	1110	c.958G>C	c.(958-960)Gta>Cta	p.V320L	SIRPA_ENST00000400068.3_Missense_Mutation_p.V320L|SIRPA_ENST00000356025.3_Missense_Mutation_p.V320L	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	320	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V320L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCTGGTGAATGTATCTGCCCA	0.562																																					GBM(155;1668 1920 5945 42733 48121)	uc002wfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(958-960)GTA>CTA		signal-regulatory protein alpha precursor							126.0	107.0	113.0					20																	1903162		2203	4298	6501	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1903162G>C	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.958G>C	20.37:g.1903162G>C	ENSP00000351621:p.Val320Leu					SIRPA_uc010zps.1_Missense_Mutation_p.V300L|SIRPA_uc002wfr.2_Missense_Mutation_p.V320L|SIRPA_uc002wfs.2_Missense_Mutation_p.V320L|SIRPA_uc002wft.2_Missense_Mutation_p.V320L	p.V320L	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	5	1318	+			320			Ig-like C1-type 2.|Extracellular (Potential).		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.958G>C	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	1.358	-0.589676	0.03799	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.00601	6.29;6.29;6.29	5.35	-1.56	0.08532	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.767630	0.02827	N	0.126254	T	0.00468	0.0015	N	0.21194	0.64	0.09310	N	1	B;B;B	0.23185	0.0;0.081;0.0	B;B;B	0.24541	0.004;0.054;0.004	T	0.46582	-0.9181	10	0.14252	T	0.57	.	1.4262	0.02324	0.2767:0.0828:0.2961:0.3444	.	300;320;320	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	L	320	ENSP00000382941:V320L;ENSP00000348307:V320L;ENSP00000351621:V320L	ENSP00000348307:V320L	V	+	1	0	SIRPA	1851162	0.000000	0.05858	0.018000	0.16275	0.012000	0.07955	-0.266000	0.08631	-0.062000	0.13088	-0.266000	0.10368	GTA		PASS	0.562	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		11	79	11	79	---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7886891	7886891	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:7886891T>C	ENST00000378789.3	-	4	682	c.631A>G	c.(631-633)Aaa>Gaa	p.K211E		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	211	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.K211E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCTATTGCTTTAGCCACATAT	0.378																																						uc002wmw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(631-633)AAA>GAA		hydroxyacid oxidase 1							135.0	129.0	131.0					20																	7886891		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7886891T>C	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.631A>G	20.37:g.7886891T>C	ENSP00000368066:p.Lys211Glu					HAO1_uc010gbu.2_Missense_Mutation_p.K211E	p.K211E	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			4	655	-			211			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.631A>G	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	T	4.829	0.154143	0.09236	.	.	ENSG00000101323	ENST00000378789	T	0.28255	1.62	5.54	1.77	0.24775	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.448888	0.27577	N	0.018751	T	0.09468	0.0233	N	0.03281	-0.365	0.30218	N	0.797104	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36335	-0.9752	10	0.02654	T	1	-2.3974	6.0628	0.19846	0.0:0.1953:0.3914:0.4133	.	211;211	A8K058;Q9UJM8	.;HAOX1_HUMAN	E	211	ENSP00000368066:K211E	ENSP00000368066:K211E	K	-	1	0	HAO1	7834891	0.969000	0.33509	0.954000	0.39281	0.915000	0.54546	1.573000	0.36472	0.376000	0.24707	0.482000	0.46254	AAA		PASS	0.378	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			38	196	38	196	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16362393	16362393	+	Splice_Site	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:16362393C>G	ENST00000354981.2	-	18	1942		c.e18-1		KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site|KIF16B_ENST00000355755.3_Splice_Site	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.?(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAATTCAAGTCTAATAAAATC	0.348																																						uc002wpg.1																			2	Unknown(2)		lung(2)	skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.e18-1		kinesin-like motor protein C20orf23							117.0	113.0	115.0					20																	16362393		2202	4298	6500	SO:0001630	splice_region_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16362393C>G	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1785-1G>C	20.37:g.16362393C>G						KIF16B_uc002wpe.1_5'Flank|KIF16B_uc002wpf.1_5'Flank|KIF16B_uc010gch.1_Splice_Site_p.G595_splice|KIF16B_uc010gci.1_Splice_Site_p.G595_splice|KIF16B_uc010gcj.1_Splice_Site_p.R606_splice	p.G595_splice	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			18	1943	-								A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Splice_Site	SNP	ENST00000354981.2	37	c.1785_splice	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394319	0.83011	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042;ENST00000450176	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF16B	16310393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.797000	0.75150	2.865000	0.98341	0.655000	0.94253	.		PASS	0.348	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	Intron	6	48	6	48	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20269276	20269276	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:20269276G>C	ENST00000245957.5	+	23	2896	c.2820G>C	c.(2818-2820)aaG>aaC	p.K940N	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		940								p.K940N(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)		TCTGTGAGAAGAATGTGGATT	0.398																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2818-2820)AAG>AAC		hypothetical protein LOC26074							191.0	183.0	186.0					20																	20269276		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20269276G>C																												ENST00000245957.5:c.2820G>C	20.37:g.20269276G>C	ENSP00000245957:p.Lys940Asn					C20orf26_uc002wrw.2_Intron	p.K940N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	23	2896	+			940					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2820G>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618654	0.66787	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.11495	2.77	5.6	3.52	0.40303	.	0.051644	0.85682	D	0.000000	T	0.28333	0.0700	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.01617	-1.1311	10	0.72032	D	0.01	.	8.3551	0.32324	0.254:0.0:0.746:0.0	.	940	Q8NHU2	CT026_HUMAN	N	880;906;940	ENSP00000245957:K940N	ENSP00000245957:K940N	K	+	3	2	C20orf26	20217276	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	2.605000	0.46283	1.272000	0.44329	0.650000	0.86243	AAG		PASS	0.398	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			9	347	9	347	---	---	---	---
ACSS1	84532	broad.mit.edu	37	20	25011462	25011462	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:25011462G>A	ENST00000323482.4	-	3	643	c.564C>T	c.(562-564)atC>atT	p.I188I	ACSS1_ENST00000542618.1_Silent_p.I67I|ACSS1_ENST00000537502.1_Silent_p.I105I|ACSS1_ENST00000432802.2_Silent_p.I188I	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	188					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.I188I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGACAGCTCCGATCCTGGCAC	0.597																																						uc002wub.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(562-564)ATC>ATT		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						102.0	81.0	88.0					20																	25011462		2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25011462G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.564C>T	20.37:g.25011462G>A						ACSS1_uc002wuc.2_Silent_p.I188I|ACSS1_uc010gdc.2_Silent_p.I188I|ACSS1_uc002wua.2_Silent_p.I105I	p.I188I	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			3	1442	-			188					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.564C>T	CCDS13167.1																																																																																				PASS	0.597	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		12	29	12	29	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31695567	31695567	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:31695567G>A	ENST00000375483.3	+	15	1762	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	588						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.V549I(1)									GGGTTCTGGCGTCCCTCTCCC	0.488																																						uc010zue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1762-1764)GTC>ATC		antimicrobial peptide RY2G5 precursor							158.0	124.0	136.0					20																	31695567		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31695567G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1762G>A	20.37:g.31695567G>A	ENSP00000364632:p.Val588Ile						p.V588I	NM_182519	NP_872325	P59827	LPLC4_HUMAN			15	1777	+			588					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1762G>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	0.861	-0.735124	0.03111	.	.	ENSG00000186191	ENST00000375483	T	0.08193	3.12	6.01	1.96	0.26148	.	0.287448	0.29579	N	0.011750	T	0.04182	0.0116	N	0.12182	0.205	0.24148	N	0.99571	B	0.16603	0.018	B	0.11329	0.006	T	0.45585	-0.9251	10	0.08599	T	0.76	-29.6179	11.1672	0.48550	0.2098:0.0:0.7902:0.0	.	588	P59827	BPIB4_HUMAN	I	588	ENSP00000364632:V588I	ENSP00000364632:V588I	V	+	1	0	BPIFB4	31159228	0.587000	0.26791	0.500000	0.27589	0.128000	0.20619	0.689000	0.25437	0.150000	0.19136	-1.916000	0.00518	GTC		PASS	0.488	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		61	73	61	73	---	---	---	---
E2F1	1869	broad.mit.edu	37	20	32266052	32266052	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:32266052C>A	ENST00000343380.5	-	4	819	c.680G>T	c.(679-681)tGt>tTt	p.C227F	RP1-63M2.5_ENST00000606866.1_RNA	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	227	Dimerization. {ECO:0000255}.|Required for interaction with TRIM28.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|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 (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.C227F(1)		NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGCGTAGTACAGATATTCAT	0.627																																						uc002wzu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)TGT>TTT		E2F transcription factor 1							53.0	46.0	48.0					20																	32266052		2203	4300	6503	SO:0001583	missense	1869				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr20:32266052C>A		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.680G>T	20.37:g.32266052C>A	ENSP00000345571:p.Cys227Phe						p.C227F	NM_005225	NP_005216	Q01094	E2F1_HUMAN			4	820	-			227			Dimerization (Potential).|Required for interaction with TRIM28.		Q13143|Q92768	Missense_Mutation	SNP	ENST00000343380.5	37	c.680G>T	CCDS13224.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051008	0.75960	.	.	ENSG00000101412	ENST00000343380	D	0.86230	-2.09	5.34	5.34	0.76211	.	0.243505	0.41605	D	0.000846	D	0.93180	0.7828	M	0.77103	2.36	0.58432	D	0.999999	D	0.76494	0.999	D	0.67900	0.954	D	0.93619	0.6946	10	0.87932	D	0	-14.1669	17.9811	0.89141	0.0:1.0:0.0:0.0	.	227	Q01094	E2F1_HUMAN	F	227	ENSP00000345571:C227F	ENSP00000345571:C227F	C	-	2	0	E2F1	31729713	1.000000	0.71417	0.926000	0.36857	0.569000	0.35902	5.870000	0.69620	2.785000	0.95823	0.655000	0.94253	TGT		PASS	0.627	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			25	40	25	40	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33345597	33345597	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:33345597C>G	ENST00000374796.2	-	8	3524	c.954G>C	c.(952-954)tgG>tgC	p.W318C	NCOA6_ENST00000359003.2_Missense_Mutation_p.W318C			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	318	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.W318C(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCAGCTGGTTCCAGCCTGGAG	0.597																																						uc002xav.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(952-954)TGG>TGC		nuclear receptor coactivator 6							132.0	121.0	125.0					20																	33345597		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345597C>G	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.954G>C	20.37:g.33345597C>G	ENSP00000363929:p.Trp318Cys					NCOA6_uc002xaw.2_Missense_Mutation_p.W318C|NCOA6_uc010gew.1_Missense_Mutation_p.W275C	p.W318C	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			8	3525	-			318			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.954G>C	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090836	0.55968	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.27104	1.69;1.69	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000020	T	0.41719	0.1171	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.25984	-1.0116	10	0.45353	T	0.12	-1.6943	17.9883	0.89161	0.0:1.0:0.0:0.0	.	318;318	F6M2K2;Q14686	.;NCOA6_HUMAN	C	318;318;275	ENSP00000363929:W318C;ENSP00000351894:W318C	ENSP00000351894:W318C	W	-	3	0	NCOA6	32809258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.298000	0.78815	2.253000	0.74438	0.467000	0.42956	TGG		PASS	0.597	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		14	119	14	119	---	---	---	---
MMP24	10893	broad.mit.edu	37	20	33839711	33839711	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:33839711G>C	ENST00000246186.6	+	3	484	c.399G>C	c.(397-399)tgG>tgC	p.W133C	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	133					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W133C(1)		NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	TGCCCAGGTGGATGAAGAAAC	0.542																																						uc002xbu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)TGG>TGC		matrix metalloproteinase 24 preproprotein							98.0	104.0	102.0					20																	33839711		2049	4210	6259	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33839711G>C	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.399G>C	20.37:g.33839711G>C	ENSP00000246186:p.Trp133Cys					EDEM2_uc010zuv.1_Intron	p.W133C	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		3	402	+			133			Extracellular (Potential).		B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.399G>C	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430392	0.83776	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.35421	1.31	5.19	5.19	0.71726	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.66089	-0.6010	10	0.72032	D	0.01	.	17.8754	0.88824	0.0:0.0:1.0:0.0	.	133	Q9Y5R2	MMP24_HUMAN	C	133;81	ENSP00000246186:W133C	ENSP00000246186:W133C	W	+	3	0	MMP24	33303127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.664000	0.83830	2.685000	0.91497	0.655000	0.94253	TGG		PASS	0.542	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		24	129	24	129	---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34240637	34240637	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:34240637C>G	ENST00000374114.3	-	3	2871	c.2608G>C	c.(2608-2610)Gat>Cat	p.D870H	CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.D870H|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.D870H	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	870	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D870H(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AAAATCTCATCAATAGACACA	0.423																																						uc002xdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2608-2610)GAT>CAT		RNA binding motif protein 12							86.0	87.0	87.0					20																	34240637		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240637C>G	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2608G>C	20.37:g.34240637C>G	ENSP00000363228:p.Asp870His					CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.D870H|RBM12_uc002xds.2_Missense_Mutation_p.D870H	p.D870H	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2840	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		870			RRM 3.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2608G>C	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658018	0.47467	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.09445	2.98;2.98;2.98	5.3	5.3	0.74995	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	M	0.70108	2.13	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.02093	-1.1215	10	0.66056	D	0.02	-14.3958	19.1361	0.93429	0.0:1.0:0.0:0.0	.	870	Q9NTZ6	RBM12_HUMAN	H	870;870;870;669	ENSP00000363228:D870H;ENSP00000352668:D870H;ENSP00000363217:D870H	ENSP00000339879:D669H	D	-	1	0	RBM12	33704051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.748000	0.94277	0.655000	0.94253	GAT		PASS	0.423	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		25	154	25	154	---	---	---	---
RBM39	9584	broad.mit.edu	37	20	34302155	34302155	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:34302155C>G	ENST00000253363.6	-	11	1071	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H	RBM39_ENST00000528062.3_Missense_Mutation_p.D328H|RBM39_ENST00000407261.4_Missense_Mutation_p.D193H|RBM39_ENST00000361162.6_Missense_Mutation_p.D350H|snoU13_ENST00000459110.1_RNA			Q14498	RBM39_HUMAN	RNA binding motif protein 39	350	Activating domain. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D350H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GTTCCCAAATCAATTCCAGTC	0.413																																						uc002xeb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1048-1050)GAT>CAT		RNA binding motif protein 39 isoform a							163.0	139.0	147.0					20																	34302155		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34302155C>G	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1048G>C	20.37:g.34302155C>G	ENSP00000253363:p.Asp350His					RBM39_uc002xdz.2_Missense_Mutation_p.D326H|RBM39_uc002xea.2_Missense_Mutation_p.D193H|RBM39_uc010gfn.2_Missense_Mutation_p.D193H|RBM39_uc010zvm.1_Missense_Mutation_p.D328H|RBM39_uc002xeg.2_Missense_Mutation_p.D328H|RBM39_uc002xec.2_Missense_Mutation_p.D350H|RBM39_uc002xed.2_Missense_Mutation_p.D68H|RBM39_uc002xee.2_Missense_Mutation_p.D193H|RBM39_uc002xef.2_Missense_Mutation_p.D193H|RBM39_uc010zvn.1_Missense_Mutation_p.D193H	p.D350H	NM_184234	NP_909122	Q14498	RBM39_HUMAN			11	1392	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		350			Activating domain (By similarity).|Interaction with JUN (By similarity).		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.1048G>C	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.921998|4.921998	0.92319|0.92319	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261|ENST00000448303	T;T;T;T|.	0.46819|.	0.86;0.86;0.86;0.86|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.041576|.	0.85682|.	D|.	0.000000|.	D|.	0.82843|.	0.5125|.	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.993;1.0;0.997|.	D;D;D;D;D|.	0.70935|.	0.971;0.971;0.96;0.971;0.912|.	D|.	0.84164|.	0.0430|.	10|.	0.44086|.	T|.	0.13|.	.|.	18.9101|18.9101	0.92479|0.92479	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	328;328;350;350;326|.	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7|.	.;.;.;RBM39_HUMAN;.|.	H|S	350;350;328;193|200	ENSP00000253363:D350H;ENSP00000354437:D350H;ENSP00000436747:D328H;ENSP00000384541:D193H|.	ENSP00000253363:D350H|.	D|X	-|-	1|2	0|2	RBM39|RBM39	33765569|33765569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.564000|7.564000	0.82326|0.82326	2.711000|2.711000	0.92665|0.92665	0.655000|0.655000	0.94253|0.94253	GAT|TGA		PASS	0.413	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		22	197	22	197	---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35661184	35661184	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:35661184G>T	ENST00000373664.3	-	16	2332	c.2266C>A	c.(2266-2268)Cat>Aat	p.H756N	RBL1_ENST00000344359.3_Missense_Mutation_p.H756N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	756	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.H756N(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ATTAATGAATGAGCAGTAAGT	0.423																																						uc002xgi.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(3)|ovary(2)	10						c.(2266-2268)CAT>AAT		retinoblastoma-like protein 1 isoform a							216.0	193.0	201.0					20																	35661184		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35661184G>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2266C>A	20.37:g.35661184G>T	ENSP00000362768:p.His756Asn					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.H756N	p.H756N	NM_002895	NP_002886	P28749	RBL1_HUMAN			16	2345	-		Myeloproliferative disorder(115;0.00878)	756			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2266C>A	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534833	0.27475	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.92397	-2.8;-3.03	5.3	5.3	0.74995	.	0.144148	0.46145	D	0.000315	D	0.85146	0.5630	N	0.14661	0.345	0.27730	N	0.944831	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.001	T	0.66783	-0.5836	10	0.14252	T	0.57	-8.7418	19.1532	0.93499	0.0:0.0:1.0:0.0	.	756;756	P28749-2;P28749	.;RBL1_HUMAN	N	756	ENSP00000362768:H756N;ENSP00000343646:H756N	ENSP00000343646:H756N	H	-	1	0	RBL1	35094598	1.000000	0.71417	0.999000	0.59377	0.394000	0.30568	6.840000	0.75369	2.775000	0.95449	0.650000	0.86243	CAT		PASS	0.423	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		71	439	71	439	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40944533	40944533	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:40944533T>A	ENST00000373187.1	-	12	1968	c.1969A>T	c.(1969-1971)Agc>Tgc	p.S657C	PTPRT_ENST00000373193.3_Missense_Mutation_p.S657C|PTPRT_ENST00000373198.4_Missense_Mutation_p.S657C|PTPRT_ENST00000356100.2_Missense_Mutation_p.S657C|PTPRT_ENST00000373190.1_Missense_Mutation_p.S657C|PTPRT_ENST00000373184.1_Missense_Mutation_p.S657C|PTPRT_ENST00000373201.1_Missense_Mutation_p.S657C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	657	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.S657C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAATCGAGGCTGGAGGCATTC	0.507																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(1969-1971)AGC>TGC		protein tyrosine phosphatase, receptor type, T							126.0	125.0	126.0					20																	40944533		2029	4166	6195	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40944533T>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1969A>T	20.37:g.40944533T>A	ENSP00000362283:p.Ser657Cys					PTPRT_uc010ggj.2_Missense_Mutation_p.S657C	p.S657C	NM_007050	NP_008981	O14522	PTPRT_HUMAN			12	2153	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	657			Extracellular (Potential).|Fibronectin type-III 4.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1969A>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612582	0.46631	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.37584	1.22;1.22;1.22;1.19;1.19;1.24;1.24	5.57	5.57	0.84162	.	0.441050	0.28062	N	0.016747	T	0.41096	0.1144	L	0.39898	1.24	0.27053	N	0.963733	P;P	0.50943	0.94;0.836	P;P	0.52267	0.694;0.497	T	0.36163	-0.9759	10	0.59425	D	0.04	.	11.7002	0.51567	0.0:0.0:0.1476:0.8524	.	657;657	O14522-1;O14522	.;PTPRT_HUMAN	C	657	ENSP00000362286:S657C;ENSP00000362283:S657C;ENSP00000362289:S657C;ENSP00000348408:S657C;ENSP00000362294:S657C;ENSP00000362280:S657C;ENSP00000362297:S657C	ENSP00000348408:S657C	S	-	1	0	PTPRT	40377947	0.998000	0.40836	0.993000	0.49108	0.984000	0.73092	2.992000	0.49417	2.120000	0.65058	0.460000	0.39030	AGC		PASS	0.507	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			32	169	32	169	---	---	---	---
PABPC1L	80336	broad.mit.edu	37	20	43566779	43566779	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:43566779G>C	ENST00000217073.2	+	13	1723	c.1723G>C	c.(1723-1725)Gac>Cac	p.D575H	PABPC1L_ENST00000255136.3_Missense_Mutation_p.D575H|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000372824.1_Missense_Mutation_p.D129H|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Missense_Mutation_p.D129H|PABPC1L_ENST00000217075.2_Missense_Mutation_p.D129H			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	575	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D575H(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GCTGGAGATTGACAACTCAGA	0.587																																						uc010ggv.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1723-1725)GAC>CAC		poly(A)-binding protein, cytoplasmic 1-like							70.0	61.0	64.0					20																	43566779		1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43566779G>C	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1723G>C	20.37:g.43566779G>C	ENSP00000217073:p.Asp575His					PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_Missense_Mutation_p.D129H|PABPC1L_uc002xmx.2_Missense_Mutation_p.D129H	p.D575H	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			13	1805	+			575			PABC.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.1723G>C	CCDS42878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.673681|4.673681	0.88445|0.88445	.|.	.|.	ENSG00000101104|ENSG00000101104	ENST00000255136;ENST00000421240;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075|ENST00000372821;ENST00000372826;ENST00000372822	T;T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43;0.43|.	4.72|4.72	4.72|4.72	0.59763|0.59763	Polyadenylate-binding protein/Hyperplastic disc protein (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86961|0.86961	0.6059|0.6059	H|H	0.94462|0.94462	3.54|3.54	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.90761|0.90761	0.4665|0.4665	10|6	0.87932|0.72032	D|D	0|0.01	.|.	17.8816|17.8816	0.88842|0.88842	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	575;129|.	Q4VXU2;G5E9L3|.	PAP1L_HUMAN;.|.	H|F	575;129;575;129;129;129|156;110;97	ENSP00000255136:D575H;ENSP00000217073:D575H;ENSP00000361911:D129H;ENSP00000361906:D129H;ENSP00000217075:D129H|.	ENSP00000217073:D575H|ENSP00000361908:L156F	D|L	+|+	1|3	0|2	PABPC1L|PABPC1L	43000193|43000193	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	9.657000|9.657000	0.98554|0.98554	2.459000|2.459000	0.83118|0.83118	0.591000|0.591000	0.81541|0.81541	GAC|TTG		PASS	0.587	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			20	48	20	48	---	---	---	---
NEURL2	140825	broad.mit.edu	37	20	44517426	44517426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:44517426C>A	ENST00000372518.4	-	2	1124	c.829G>T	c.(829-831)Gaa>Taa	p.E277*	CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000372459.2_5'Flank|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	277	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)		p.E277*(1)		large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TCCTTAAGTTCTTTGGGCAGG	0.567																																						uc002xqg.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(829-831)GAA>TAA		neuralized-like protein 2							91.0	78.0	83.0					20																	44517426		2203	4300	6503	SO:0001587	stop_gained	140825				intracellular signal transduction			g.chr20:44517426C>A	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.829G>T	20.37:g.44517426C>A	ENSP00000361596:p.Glu277*					C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	p.E277*	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN			2	1100	-		Myeloproliferative disorder(115;0.0122)	277			SOCS box.		Q3KR34	Nonsense_Mutation	SNP	ENST00000372518.4	37	c.829G>T	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716237	0.96830	.	.	ENSG00000124257	ENST00000372518	.	.	.	4.94	4.94	0.65067	.	0.442499	0.26373	N	0.024749	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-4.1889	5.8355	0.18605	0.0:0.5849:0.2556:0.1595	.	.	.	.	X	277	.	ENSP00000361596:E277X	E	-	1	0	NEURL2	43950833	0.002000	0.14202	0.995000	0.50966	0.992000	0.81027	0.874000	0.28065	2.724000	0.93272	0.561000	0.74099	GAA		PASS	0.567	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			8	100	8	100	---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44640944	44640944	+	Missense_Mutation	SNP	C	C	T	rs527613229	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:44640944C>T	ENST00000372330.3	+	7	1185	c.1166C>T	c.(1165-1167)cCg>cTg	p.P389L	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	389	Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P389L(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GGCTTCTGCCCGGACCAAGGT	0.697													C|||	2	0.000399361	0.0	0.0	5008	,	,		13082	0.002		0.0	False		,,,				2504	0.0					uc002xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1165-1167)CCG>CTG		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						42.0	51.0	48.0					20																	44640944		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44640944C>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1166C>T	20.37:g.44640944C>T	ENSP00000361405:p.Pro389Leu						p.P389L	NM_004994	NP_004985	P14780	MMP9_HUMAN			7	1185	+		Myeloproliferative disorder(115;0.0122)	389			Fibronectin type-II 3.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.1166C>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599397	0.87055	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.10288	2.89	5.04	4.04	0.47022	Fibronectin, type II, collagen-binding (1);Peptidase M10, metallopeptidase (1);Kringle-like fold (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.102909	0.64402	D	0.000002	T	0.36853	0.0982	M	0.93197	3.39	0.80722	D	1	D	0.65815	0.995	P	0.56398	0.797	T	0.53479	-0.8433	10	0.87932	D	0	.	15.1033	0.72299	0.151:0.849:0.0:0.0	.	389	P14780	MMP9_HUMAN	L	389;34	ENSP00000361405:P389L	ENSP00000361405:P389L	P	+	2	0	MMP9	44074351	0.999000	0.42202	0.950000	0.38849	0.973000	0.67179	4.669000	0.61575	2.630000	0.89119	0.561000	0.74099	CCG		PASS	0.697	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			10	121	10	121	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45131354	45131354	+	Silent	SNP	C	C	A	rs548225062		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:45131354C>A	ENST00000347606.4	-	5	806	c.624G>T	c.(622-624)ccG>ccT	p.P208P	ZNF334_ENST00000457685.2_Silent_p.P170P|ZNF334_ENST00000593880.1_Silent_p.P231P	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	208					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.P208P(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TATAGTCAAACGGTTGTTTCA	0.348																																						uc002xsc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(622-624)CCG>CCT		zinc finger protein 334 isoform a							101.0	100.0	101.0					20																	45131354		2203	4300	6503	SO:0001819	synonymous_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131354C>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.624G>T	20.37:g.45131354C>A						ZNF334_uc002xsa.2_Silent_p.P231P|ZNF334_uc002xsb.2_Silent_p.P170P|ZNF334_uc002xsd.2_Silent_p.P170P|ZNF334_uc010ghl.2_Silent_p.P207P	p.P208P	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	808	-		Myeloproliferative disorder(115;0.0122)	208					Q5T6U2|Q9NVW4	Silent	SNP	ENST00000347606.4	37	c.624G>T	CCDS33480.1																																																																																				PASS	0.348	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			33	258	33	258	---	---	---	---
SULF2	55959	broad.mit.edu	37	20	46365469	46365469	+	Silent	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:46365469G>C	ENST00000359930.4	-	3	1244	c.393C>G	c.(391-393)ctC>ctG	p.L131L	SULF2_ENST00000467815.1_Silent_p.L131L|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000484875.1_Silent_p.L131L|SULF2_ENST00000361612.4_Silent_p.L131L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	131					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.L131L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CAGTGCTATTGAGGTACACGG	0.617																																						uc002xto.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(391-393)CTC>CTG		sulfatase 2 isoform a precursor							134.0	97.0	109.0					20																	46365469		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46365469G>C	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.393C>G	20.37:g.46365469G>C						SULF2_uc002xtr.2_Silent_p.L131L|SULF2_uc002xtq.2_Silent_p.L131L|SULF2_uc010ghv.1_Silent_p.L131L	p.L131L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			3	723	-			131					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.393C>G	CCDS13408.1																																																																																				PASS	0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		7	60	7	60	---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47626853	47626853	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:47626853G>C	ENST00000371917.4	+	27	3669	c.3669G>C	c.(3667-3669)aaG>aaC	p.K1223N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1223					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.K1223N(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGGTTGGAAGAACATCTTTG	0.562																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|upper_aerodigestive_tract(1)	4						c.(3667-3669)AAG>AAC		ADP-ribosylation factor guanine							139.0	108.0	118.0					20																	47626853		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47626853G>C	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3669G>C	20.37:g.47626853G>C	ENSP00000360985:p.Lys1223Asn					ARFGEF2_uc010zyf.1_Missense_Mutation_p.K516N	p.K1223N	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		27	3821	+			1223					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3669G>C	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741547	0.69304	.	.	ENSG00000124198	ENST00000371917	T	0.66280	-0.2	5.18	3.2	0.36748	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81069	0.4746	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82623	-0.0366	10	0.87932	D	0	.	10.2934	0.43610	0.2347:0.0:0.7653:0.0	.	1223	Q9Y6D5	BIG2_HUMAN	N	1223	ENSP00000360985:K1223N	ENSP00000360985:K1223N	K	+	3	2	ARFGEF2	47060260	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.427000	0.44740	0.670000	0.31165	0.655000	0.94253	AAG		PASS	0.562	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		5	179	5	179	---	---	---	---
ADNP	23394	broad.mit.edu	37	20	49509542	49509542	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:49509542T>C	ENST00000396029.3	-	5	2276	c.1709A>G	c.(1708-1710)aAt>aGt	p.N570S	ADNP_ENST00000349014.3_Missense_Mutation_p.N570S|ADNP_ENST00000371602.4_Missense_Mutation_p.N570S|ADNP_ENST00000396032.3_Missense_Mutation_p.N570S	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	570					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N570S(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATCCCTCAGATTGTATGTAGT	0.443																																						uc002xvt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1708-1710)AAT>AGT		activity-dependent neuroprotector							147.0	142.0	144.0					20																	49509542		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49509542T>C	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1709A>G	20.37:g.49509542T>C	ENSP00000379346:p.Asn570Ser					ADNP_uc002xvu.1_Missense_Mutation_p.N570S	p.N570S	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN			5	2054	-			570					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.1709A>G	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	9.279	1.047641	0.19827	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.39898	1.24	0.54753	D	0.999988	B	0.25235	0.121	B	0.29942	0.109	T	0.51741	-0.8667	9	0.26408	T	0.33	-17.2276	16.0576	0.80816	0.0:0.0:0.0:1.0	.	570	Q9H2P0	ADNP_HUMAN	S	570	.	ENSP00000342905:N570S	N	-	2	0	ADNP	48942949	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.681000	0.84073	2.188000	0.69820	0.528000	0.53228	AAT		PASS	0.443	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		10	355	10	355	---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50048903	50048903	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:50048903G>A	ENST00000396009.3	-	9	2642	c.2423C>T	c.(2422-2424)tCg>tTg	p.S808L	NFATC2_ENST00000609507.1_Missense_Mutation_p.S589L|NFATC2_ENST00000371564.3_Missense_Mutation_p.S808L|NFATC2_ENST00000610033.1_Missense_Mutation_p.S589L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S788L|NFATC2_ENST00000609943.1_Missense_Mutation_p.S788L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	808					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	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 negative regulation of transcription (GO:0001078)|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.S808L(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GATCACAGGCGAGGCCTGCTG	0.647																																						uc002xwd.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2422-2424)TCG>TTG		nuclear factor of activated T-cells,							47.0	50.0	49.0					20																	50048903		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50048903G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2423C>T	20.37:g.50048903G>A	ENSP00000379330:p.Ser808Leu					NFATC2_uc002xwc.2_Missense_Mutation_p.S808L|NFATC2_uc010zyv.1_Missense_Mutation_p.S589L|NFATC2_uc010zyw.1_Missense_Mutation_p.S589L|NFATC2_uc010zyx.1_Missense_Mutation_p.S788L|NFATC2_uc010zyy.1_Missense_Mutation_p.S589L|NFATC2_uc010zyz.1_Missense_Mutation_p.S589L|NFATC2_uc002xwe.2_Missense_Mutation_p.S788L	p.S808L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			9	2643	-	Hepatocellular(150;0.248)		808					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2423C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780159	0.49891	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.18960	2.19;2.18;2.21	5.45	5.45	0.79879	.	0.135690	0.50627	D	0.000108	T	0.15003	0.0362	L	0.36672	1.1	0.48901	D	0.999727	P;P;D;P	0.54601	0.931;0.913;0.967;0.931	B;B;B;B	0.34489	0.081;0.17;0.173;0.184	T	0.12400	-1.0549	10	0.11794	T	0.64	-4.4372	19.296	0.94122	0.0:0.0:1.0:0.0	.	788;788;808;808	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	808;808;788	ENSP00000360619:S808L;ENSP00000379330:S808L;ENSP00000396471:S788L	ENSP00000360619:S808L	S	-	2	0	NFATC2	49482310	1.000000	0.71417	0.903000	0.35520	0.152000	0.21847	9.452000	0.97615	2.563000	0.86464	0.650000	0.86243	TCG		PASS	0.647	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		41	108	41	108	---	---	---	---
CYP24A1	1591	broad.mit.edu	37	20	52774666	52774666	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:52774666C>T	ENST00000216862.3	-	9	1588	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	CYP24A1_ENST00000395955.3_Missense_Mutation_p.D399N|CYP24A1_ENST00000395954.3_Missense_Mutation_p.D257N|CYP24A1_ENST00000460643.1_5'Flank	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	399					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.D399N(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTTGCCTTGTCAAGAGTCCGA	0.378																																						uc002xwv.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(1195-1197)GAC>AAC		cytochrome P450 family 24 subfamily A	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						89.0	86.0	87.0					20																	52774666		2203	4300	6503	SO:0001583	missense	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52774666C>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1195G>A	20.37:g.52774666C>T	ENSP00000216862:p.Asp399Asn					CYP24A1_uc002xwu.1_Missense_Mutation_p.D257N|CYP24A1_uc002xww.2_Missense_Mutation_p.D399N	p.D399N	NM_000782	NP_000773	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		9	1593	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		399					Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	c.1195G>A	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363617	0.95877	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.67698	-0.28;-0.28;-0.28	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.77018	0.4069	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74674	0.962;0.984;0.984	T	0.76063	-0.3096	10	0.46703	T	0.11	-22.0998	18.6106	0.91284	0.0:1.0:0.0:0.0	.	399;399;257	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	N	399;399;257	ENSP00000216862:D399N;ENSP00000379285:D399N;ENSP00000379284:D257N	ENSP00000216862:D399N	D	-	1	0	CYP24A1	52208073	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.581000	0.60949	2.630000	0.89119	0.655000	0.94253	GAC		PASS	0.378	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			17	154	17	154	---	---	---	---
NPEPL1	79716	broad.mit.edu	37	20	57269496	57269496	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:57269496G>A	ENST00000356091.6	+	3	643	c.355G>A	c.(355-357)Gag>Aag	p.E119K	NPEPL1_ENST00000525967.1_Missense_Mutation_p.E91K|NPEPL1_ENST00000525817.1_Missense_Mutation_p.E71K|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	119						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.E119K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CGAGCAGCCGGAGGTCTTTGC	0.667																																						uc010zzs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)GAG>AAG		aminopeptidase-like 1							68.0	76.0	73.0					20																	57269496		2037	4187	6224	SO:0001583	missense	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57269496G>A	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.355G>A	20.37:g.57269496G>A	ENSP00000348395:p.Glu119Lys					NPEPL1_uc010zzr.1_Missense_Mutation_p.E71K|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.E91K|NPEPL1_uc002xzp.2_Missense_Mutation_p.E7K	p.E119K	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		3	450	+	all_lung(29;0.0175)		119					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.355G>A	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825132	0.50739	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.30981	1.51;1.53;1.52	4.58	4.58	0.56647	.	0.256963	0.43919	D	0.000510	T	0.36441	0.0967	L	0.56769	1.78	0.58432	D	0.999999	B;B;B;B	0.33103	0.018;0.018;0.078;0.397	B;B;B;B	0.38458	0.017;0.038;0.027;0.274	T	0.23547	-1.0185	10	0.41790	T	0.15	-15.9043	16.4186	0.83751	0.0:0.0:1.0:0.0	.	119;71;91;119	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	K	91;71;119	ENSP00000434810:E91K;ENSP00000437112:E71K;ENSP00000348395:E119K	ENSP00000348395:E119K	E	+	1	0	NPEPL1	56702903	1.000000	0.71417	0.040000	0.18447	0.077000	0.17291	9.406000	0.97321	2.122000	0.65172	0.549000	0.68633	GAG		PASS	0.667	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		5	152	5	152	---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60509210	60509210	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:60509210G>A	ENST00000360469.5	+	15	2564	c.2476G>A	c.(2476-2478)Gct>Act	p.A826T	CDH4_ENST00000543233.1_Missense_Mutation_p.A752T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	826				A -> P (in Ref. 1; AAA35627 and 6; no nucleotide entry). {ECO:0000305}.	adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|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.A826T(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCCGGTGGGCGCTGAGCCCCA	0.687																																						uc002ybn.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(2476-2478)GCT>ACT		cadherin 4, type 1 preproprotein							27.0	30.0	29.0					20																	60509210		2202	4294	6496	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60509210G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2476G>A	20.37:g.60509210G>A	ENSP00000353656:p.Ala826Thr					CDH4_uc002ybp.1_Missense_Mutation_p.A752T	p.A826T	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		15	2490	+			826	A -> P (in Ref. 1; AAA35627 and 4; no nucleotide entry).		Cytoplasmic (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2476G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466724	0.63625	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.76968	-1.06;-1.06	4.52	4.52	0.55395	Cadherin, cytoplasmic domain (1);	0.178785	0.48286	D	0.000196	T	0.80076	0.4557	L	0.31371	0.925	0.58432	D	0.999994	D	0.67145	0.996	P	0.62184	0.899	T	0.79344	-0.1842	9	.	.	.	.	17.2442	0.87022	0.0:0.0:1.0:0.0	.	826	P55283	CADH4_HUMAN	T	826;734;752	ENSP00000353656:A826T;ENSP00000443301:A752T	.	A	+	1	0	CDH4	59942605	1.000000	0.71417	0.742000	0.31022	0.441000	0.31987	3.891000	0.56227	2.054000	0.61138	0.491000	0.48974	GCT		PASS	0.687	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		13	49	13	49	---	---	---	---
C20orf166-AS1	253868	broad.mit.edu	37	20	61143691	61143691	+	RNA	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:61143691G>A	ENST00000475015.1	-	0	647				C20orf166-AS1_ENST00000412495.1_RNA|C20orf166-AS1_ENST00000436101.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1									p.L53L(1)									CCCCTCCGCAGACCGGATGGT	0.677																																						uc002ycz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(157-159)CTG>TTG		hypothetical protein LOC253868							52.0	54.0	53.0					20																	61143691		2203	4300	6503			253868							g.chr20:61143691G>A	AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143691G>A						C20orf200_uc002ycy.2_RNA	p.L53L	NM_152757	NP_689970			BRCA - Breast invasive adenocarcinoma(19;7.17e-06)		3	648	-	Breast(26;2.05e-08)							Q52LN1	Silent	SNP	ENST00000475015.1	37	c.157C>T																																																																																					PASS	0.677	C20orf166-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000109266.2	NR_033263		56	70	56	70	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512756	61512756	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr20:61512756C>T	ENST00000266070.4	-	16	4877	c.4552G>A	c.(4552-4554)Gac>Aac	p.D1518N	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1518N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1518					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D1518N(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATCAAGGCGTCCGACACCGAG	0.622																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(4552-4554)GAC>AAC		death inducer-obliterator 1 isoform c							89.0	89.0	89.0					20																	61512756		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512756C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4552G>A	20.37:g.61512756C>T	ENSP00000266070:p.Asp1518Asn					DIDO1_uc002yds.1_Missense_Mutation_p.D1518N	p.D1518N	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4816	-	Breast(26;5.68e-08)		1518					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4552G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481710	0.84747	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.11063	2.81;2.81	5.69	5.69	0.88448	.	0.151101	0.29956	N	0.010778	T	0.26882	0.0658	M	0.78916	2.43	0.80722	D	1	D	0.59767	0.986	P	0.49637	0.617	T	0.01800	-1.1271	10	0.62326	D	0.03	-30.4389	19.8119	0.96549	0.0:1.0:0.0:0.0	.	1518	Q9BTC0	DIDO1_HUMAN	N	1518	ENSP00000266070:D1518N;ENSP00000378752:D1518N	ENSP00000266070:D1518N	D	-	1	0	DIDO1	60983201	1.000000	0.71417	0.286000	0.24833	0.070000	0.16714	7.193000	0.77780	2.664000	0.90586	0.655000	0.94253	GAC		PASS	0.622	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		29	233	29	233	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19647652	19647652	+	Splice_Site	SNP	A	A	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr21:19647652A>C	ENST00000284885.3	-	24	2799	c.2766T>G	c.(2764-2766)ggT>ggG	p.G922G		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	922	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.G922G(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGCAGTAGTACCTGCTCAAA	0.388																																						uc002ykw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(2764-2766)GGT>GGG		enterokinase precursor							96.0	86.0	90.0					21																	19647652		2203	4300	6503	SO:0001630	splice_region_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19647652A>C		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2765-1T>G	21.37:g.19647652A>C							p.G922G	NM_002772	NP_002763	P98073	ENTK_HUMAN			24	2797	-			922			Extracellular (Potential).|Peptidase S1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2766T>G	CCDS13571.1																																																																																				PASS	0.388	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	Silent	17	101	17	101	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28306991	28306991	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr21:28306991G>T	ENST00000284987.5	-	4	1604	c.1483C>A	c.(1483-1485)Cag>Aag	p.Q495K	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	495	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q495K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTGCACTGCTGGGTGGCATCG	0.567																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1483-1485)CAG>AAG		ADAM metallopeptidase with thrombospondin type 1							107.0	86.0	94.0					21																	28306991		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28306991G>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1483C>A	21.37:g.28306991G>T	ENSP00000284987:p.Gln495Lys						p.Q495K	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			4	2212	-			495			Disintegrin.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1483C>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539005	0.65085	.	.	ENSG00000154736	ENST00000284987	T	0.03441	3.93	5.0	5.0	0.66597	Metallopeptidase, catalytic domain (1);	0.116963	0.64402	D	0.000017	T	0.02929	0.0087	N	0.11673	0.155	0.53005	D	0.999968	B	0.20261	0.043	B	0.13407	0.009	T	0.57694	-0.7767	10	0.19147	T	0.46	.	18.5013	0.90882	0.0:0.0:1.0:0.0	.	495	Q9UNA0	ATS5_HUMAN	K	495	ENSP00000284987:Q495K	ENSP00000284987:Q495K	Q	-	1	0	ADAMTS5	27228862	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	9.193000	0.94954	2.624000	0.88883	0.557000	0.71058	CAG		PASS	0.567	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			15	77	15	77	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33065631	33065631	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr21:33065631G>C	ENST00000286835.7	-	12	1871	c.1489C>G	c.(1489-1491)Caa>Gaa	p.Q497E	SCAF4_ENST00000434667.3_Missense_Mutation_p.Q482E|SCAF4_ENST00000399804.1_Missense_Mutation_p.Q497E	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	497						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q497E(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGTTTCACTTGAGGGAGGCCT	0.428																																						uc002ypd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1489-1491)CAA>GAA		splicing factor, arginine/serine-rich 15 isoform							135.0	134.0	135.0					21																	33065631		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33065631G>C	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1489C>G	21.37:g.33065631G>C	ENSP00000286835:p.Gln497Glu					SFRS15_uc002ype.2_Missense_Mutation_p.Q497E|SFRS15_uc010glu.2_Missense_Mutation_p.Q482E|SFRS15_uc002ypf.1_Missense_Mutation_p.Q171E	p.Q497E	NM_020706	NP_065757	O95104	SFR15_HUMAN			12	1915	-			497					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.1489C>G	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073910	0.55646	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.30182	4.24;4.24;1.54	5.21	5.21	0.72293	.	0.665977	0.14899	N	0.291920	T	0.27697	0.0681	L	0.28274	0.84	0.39480	D	0.967864	B;B;B;B	0.13594	0.005;0.007;0.008;0.005	B;B;B;B	0.17722	0.008;0.009;0.019;0.008	T	0.06679	-1.0813	10	0.42905	T	0.14	-0.7847	18.752	0.91819	0.0:0.0:1.0:0.0	.	482;497;497;497	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	E	482;497;497	ENSP00000402377:Q482E;ENSP00000286835:Q497E;ENSP00000382703:Q497E	ENSP00000286835:Q497E	Q	-	1	0	SCAF4	31987502	0.993000	0.37304	0.983000	0.44433	0.994000	0.84299	4.707000	0.61852	2.418000	0.82041	0.563000	0.77884	CAA		PASS	0.428	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		4	181	4	181	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33346872	33346872	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr21:33346872C>T	ENST00000270112.2	+	7	1376	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	339					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S339F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CGCAGGATTTCTCTGGAAGAT	0.577																																						uc002yph.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|skin(1)	2						c.(1015-1017)TCT>TTT		hormonally upregulated Neu-associated kinase							118.0	113.0	115.0					21																	33346872		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33346872C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1016C>T	21.37:g.33346872C>T	ENSP00000270112:p.Ser339Phe						p.S339F	NM_014586	NP_055401	P57058	HUNK_HUMAN			7	1376	+			339						Missense_Mutation	SNP	ENST00000270112.2	37	c.1016C>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	2.025	-0.423690	0.04734	.	.	ENSG00000142149	ENST00000270112	T	0.70045	-0.45	4.51	3.56	0.40772	Protein kinase-like domain (1);	0.516121	0.19393	N	0.115359	T	0.42108	0.1188	N	0.08118	0	0.38080	D	0.936656	B	0.34264	0.446	B	0.35073	0.195	T	0.34054	-0.9844	10	0.10111	T	0.7	-5.6201	10.329	0.43812	0.5421:0.4579:0.0:0.0	.	339	P57058	HUNK_HUMAN	F	339	ENSP00000270112:S339F	ENSP00000270112:S339F	S	+	2	0	HUNK	32268743	1.000000	0.71417	0.989000	0.46669	0.072000	0.16883	5.964000	0.70379	1.195000	0.43115	0.561000	0.74099	TCT		PASS	0.577	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		33	192	33	192	---	---	---	---
IFNAR1	3454	broad.mit.edu	37	21	34721847	34721847	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr21:34721847G>C	ENST00000270139.3	+	8	1293	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	IFNAR1_ENST00000416947.2_Missense_Mutation_p.E312Q|IFNAR1_ENST00000442357.2_Missense_Mutation_p.E381Q	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	381	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)	p.E381Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TTCAAATGCTGAGGTAAAAAG	0.308																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	uc002yrn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1141-1143)GAG>CAG		interferon-alpha receptor 1 precursor	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						29.0	29.0	29.0					21																	34721847		2203	4299	6502	SO:0001583	missense	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34721847G>C		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1141G>C	21.37:g.34721847G>C	ENSP00000270139:p.Glu381Gln					IFNAR1_uc011adv.1_Missense_Mutation_p.E312Q	p.E381Q	NM_000629	NP_000620	P17181	INAR1_HUMAN			8	1288	+			381			Fibronectin type-III 3.|Extracellular (Potential).		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	c.1141G>C	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103905	0.56291	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.51071	0.72;0.72;0.72	5.65	0.531	0.17108	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.815172	0.11229	N	0.585854	T	0.49508	0.1561	L	0.50333	1.59	0.20563	N	0.999888	P	0.48834	0.916	P	0.55011	0.766	T	0.35525	-0.9785	10	0.32370	T	0.25	-7.303	5.3782	0.16176	0.2329:0.2713:0.4958:0.0	.	381	P17181	INAR1_HUMAN	Q	312;381;381	ENSP00000395606:E312Q;ENSP00000270139:E381Q;ENSP00000407406:E381Q	ENSP00000270139:E381Q	E	+	1	0	IFNAR1	33643717	0.056000	0.20664	0.067000	0.19924	0.918000	0.54935	0.052000	0.14163	-0.096000	0.12329	0.650000	0.86243	GAG		PASS	0.308	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			7	31	7	31	---	---	---	---
KRTAP10-2	386679	broad.mit.edu	37	21	45971181	45971181	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr21:45971181G>A	ENST00000391621.1	-	1	207	c.161C>T	c.(160-162)tCc>tTc	p.S54F	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	54	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S54F(1)		large_intestine(1)|lung(4)|skin(1)	6						GCAGGGGCTGGACACACAGCT	0.701																																						uc002zfi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(160-162)TCC>TTC		keratin associated protein 10-2							28.0	34.0	32.0					21																	45971181		2199	4295	6494	SO:0001583	missense	386679					keratin filament		g.chr21:45971181G>A	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.161C>T	21.37:g.45971181G>A	ENSP00000375479:p.Ser54Phe					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S54F	NM_198693	NP_941966	P60368	KR102_HUMAN			1	208	-			54			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.161C>T	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	14.13	2.444770	0.43429	.	.	ENSG00000205445	ENST00000391621	T	0.28255	1.62	2.96	0.993	0.19825	.	.	.	.	.	T	0.40719	0.1128	M	0.85710	2.77	0.22050	N	0.999399	P	0.50943	0.94	P	0.44860	0.462	T	0.35674	-0.9779	9	0.87932	D	0	.	10.0052	0.41953	0.0:0.4004:0.5996:0.0	.	54	P60368	KR102_HUMAN	F	54	ENSP00000375479:S54F	ENSP00000375479:S54F	S	-	2	0	KRTAP10-2	44795609	0.446000	0.25665	0.925000	0.36789	0.777000	0.43975	0.393000	0.20817	0.028000	0.15324	0.306000	0.20318	TCC		PASS	0.701	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			16	49	16	49	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46021108	46021108	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr21:46021108G>C	ENST00000380102.2	+	1	612	c.587G>C	c.(586-588)tGt>tCt	p.C196S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	196	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CAGGCGGTCTGTGAGCCCAGC	0.647																																						uc002zfn.3																			0					0						c.(571-573)TGT>TCT		keratin associated protein 10-7							33.0	37.0	35.0					21																	46021108		2187	4257	6444	SO:0001583	missense	386675					keratin filament		g.chr21:46021108G>C	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.587G>C	21.37:g.46021108G>C	ENSP00000369445:p.Cys196Ser					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C191S	NM_198689	NP_941962	P60409	KR107_HUMAN			2	597	+			196			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.572G>C		.	.	.	.	.	.	.	.	.	.	N	7.843	0.722279	0.15372	.	.	ENSG00000205441	ENST00000380102	T	0.00882	5.58	3.41	2.51	0.30379	.	.	.	.	.	T	0.01765	0.0056	L	0.29908	0.895	0.32598	N	0.526241	D	0.67145	0.996	P	0.59948	0.866	T	0.56129	-0.8030	9	0.40728	T	0.16	.	6.7207	0.23328	0.1419:0.0:0.8581:0.0	.	191	P60409-2	.	S	196	ENSP00000369445:C196S	ENSP00000369445:C196S	C	+	2	0	KRTAP10-7	44845536	0.580000	0.26733	0.091000	0.20842	0.187000	0.23431	1.295000	0.33377	0.537000	0.28751	0.460000	0.39030	TGT		PASS	0.647	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		6	50	6	50	---	---	---	---
UBE2G2	7327	broad.mit.edu	37	21	46191303	46191303	+	Missense_Mutation	SNP	G	G	C	rs557884438		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr21:46191303G>C	ENST00000345496.2	-	6	757	c.487C>G	c.(487-489)Ctg>Gtg	p.L163V	UBE2G2_ENST00000330942.5_Missense_Mutation_p.L135V|UBE2G2_ENST00000477954.1_5'UTR	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	163					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K48-linked ubiquitination (GO:0070936)|protein N-linked glycosylation via asparagine (GO:0018279)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.L163V(1)		breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		CACAGTCCCAGAGACTTCTGG	0.572																																						uc002zfy.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|central_nervous_system(1)	4						c.(487-489)CTG>GTG		ubiquitin-conjugating enzyme E2G 2 isoform 1							147.0	124.0	132.0					21																	46191303		2203	4300	6503	SO:0001583	missense	7327				protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr21:46191303G>C	BC008351	CCDS13714.1, CCDS33586.1	21q22.3	2011-05-19	2011-05-19		ENSG00000184787	ENSG00000184787		"""Ubiquitin-conjugating enzymes E2"""	12483	protein-coding gene	gene with protein product		603124	"""ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)"", ""ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)"""			9693041, 9925943	Standard	NM_003343		Approved	UBC7	uc002zfy.3	P60604	OTTHUMG00000089179	ENST00000345496.2:c.487C>G	21.37:g.46191303G>C	ENSP00000338348:p.Leu163Val					UBE2G2_uc002zfx.2_Missense_Mutation_p.L135V	p.L163V	NM_003343	NP_003334	P60604	UB2G2_HUMAN		Colorectal(79;0.0638)	6	562	-			163					A6NMQ7|A8K3L4|D3DSL7|P56554	Missense_Mutation	SNP	ENST00000345496.2	37	c.487C>G	CCDS13714.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120025	0.37436	.	.	ENSG00000184787	ENST00000345496;ENST00000330942	T;T	0.60920	0.15;1.78	5.4	4.52	0.55395	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.85945	2.785	0.80722	D	1	B	0.26635	0.155	B	0.30316	0.114	T	0.62520	-0.6837	10	0.49607	T	0.09	-10.0557	10.089	0.42436	0.1551:0.0:0.8449:0.0	.	163	P60604	UB2G2_HUMAN	V	163;135	ENSP00000338348:L163V;ENSP00000331384:L135V	ENSP00000331384:L135V	L	-	1	2	UBE2G2	45015731	1.000000	0.71417	0.955000	0.39395	0.482000	0.33219	5.395000	0.66291	1.277000	0.44412	-0.258000	0.10820	CTG		PASS	0.572	UBE2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202647.2	NM_182688		29	108	29	108	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022049	18022049	+	Silent	SNP	G	G	A	rs577436307		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:18022049G>A	ENST00000400585.2	+	16	2166	c.1728G>A	c.(1726-1728)ggG>ggA	p.G576G	CECR2_ENST00000400573.5_Silent_p.G717G|CECR2_ENST00000262608.8_Silent_p.G718G			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	759					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.G717G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCCGGCATGGGGGGGCTCCAG	0.552																																						uc010gqw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2149-2151)GGG>GGA		cat eye syndrome chromosome region, candidate 2							20.0	21.0	21.0					22																	18022049		1874	4100	5974	SO:0001819	synonymous_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022049G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1728G>A	22.37:g.18022049G>A						CECR2_uc010gqv.1_Silent_p.G576G|CECR2_uc002zml.2_Silent_p.G576G	p.G717G	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2277	+		all_epithelial(15;0.139)	759					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37	c.2151G>A																																																																																					PASS	0.552	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		12	30	12	30	---	---	---	---
ZNF280B	140883	broad.mit.edu	37	22	22842929	22842929	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:22842929C>G	ENST00000406426.1	-	4	1537	c.795G>C	c.(793-795)ttG>ttC	p.L265F	ZNF280B_ENST00000360412.2_Missense_Mutation_p.L265F			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	265					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.L265F(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGTTAGACTCAAAATGTCTG	0.373																																						uc002zwc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(793-795)TTG>TTC		zinc finger protein 280B							113.0	106.0	108.0					22																	22842929		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842929C>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.795G>C	22.37:g.22842929C>G	ENSP00000385998:p.Leu265Phe					LOC96610_uc011aim.1_Intron	p.L265F	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1571	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	265						Missense_Mutation	SNP	ENST00000406426.1	37	c.795G>C	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	C	7.233	0.599812	0.13939	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.03413	3.94;3.94	4.28	-3.27	0.05048	.	.	.	.	.	T	0.03695	0.0105	L	0.29908	0.895	0.09310	N	1	P	0.46706	0.883	B	0.44044	0.439	T	0.37502	-0.9703	9	0.46703	T	0.11	1.1014	9.8584	0.41098	0.0:0.2133:0.0:0.7867	.	265	Q86YH2	Z280B_HUMAN	F	265	ENSP00000385998:L265F;ENSP00000353586:L265F	ENSP00000353586:L265F	L	-	3	2	ZNF280B	21172929	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-2.090000	0.01356	-0.619000	0.05648	-0.345000	0.07892	TTG		PASS	0.373	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		31	96	31	96	---	---	---	---
ZNF70	7621	broad.mit.edu	37	22	24086611	24086611	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:24086611G>A	ENST00000341976.3	-	2	1177	c.717C>T	c.(715-717)ctC>ctT	p.L239L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	239					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.L239L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CGTGTTTTCTGAGGCTGGAGC	0.532																																						uc002zxs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(715-717)CTC>CTT		zinc finger protein 70							65.0	61.0	62.0					22																	24086611		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086611G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.717C>T	22.37:g.24086611G>A						ZNF70_uc002zxr.1_5'Flank	p.L239L	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN			2	1178	-			239			C2H2-type 4.			Silent	SNP	ENST00000341976.3	37	c.717C>T	CCDS13812.1																																																																																				PASS	0.532	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		8	145	8	145	---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24432570	24432570	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:24432570A>G	ENST00000398319.2	+	3	422	c.37A>G	c.(37-39)Att>Gtt	p.I13V	CABIN1_ENST00000405822.2_Missense_Mutation_p.I13V|CABIN1_ENST00000263119.5_Missense_Mutation_p.I13V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	13					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.I13V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGCTCCACCATTGAGGATGA	0.448																																						uc002zzi.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(37-39)ATT>GTT		calcineurin binding protein 1							249.0	242.0	244.0					22																	24432570		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24432570A>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.37A>G	22.37:g.24432570A>G	ENSP00000381364:p.Ile13Val					CABIN1_uc002zzj.1_Missense_Mutation_p.I13V|CABIN1_uc002zzl.1_Missense_Mutation_p.I13V|CABIN1_uc010guk.1_Missense_Mutation_p.I13V|CABIN1_uc002zzk.1_Missense_Mutation_p.I13V	p.I13V	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			3	164	+			13					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.37A>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	A	1.809	-0.475178	0.04414	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.62639	0.61;0.23;0.01;0.61;0.23	4.81	1.3	0.21679	.	0.263218	0.37095	N	0.002244	T	0.35068	0.0919	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.05451	-1.0884	10	0.28530	T	0.3	.	11.8406	0.52353	0.2334:0.0:0.7666:0.0	.	13;13;13;13	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	V	13	ENSP00000394209:I13V;ENSP00000263119:I13V;ENSP00000384694:I13V;ENSP00000412389:I13V;ENSP00000381364:I13V	ENSP00000263119:I13V	I	+	1	0	CABIN1	22762570	0.007000	0.16637	0.485000	0.27403	0.763000	0.43281	0.057000	0.14279	0.194000	0.20326	-1.235000	0.01560	ATT		PASS	0.448	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		125	394	125	394	---	---	---	---
SPECC1L	23384	broad.mit.edu	37	22	24718054	24718054	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:24718054C>G	ENST00000314328.9	+	5	1391	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	SPECC1L_ENST00000416735.1_Intron|SPECC1L-ADORA2A_ENST00000358654.2_Nonsense_Mutation_p.S369*|SPECC1L_ENST00000541492.1_Nonsense_Mutation_p.S369*|SPECC1L_ENST00000437398.1_Nonsense_Mutation_p.S369*	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	369					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)		p.S369*(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CCATCCTCCTCAGAGTCGGAA	0.572																																						uc002zzw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1105-1107)TCA>TGA		cytospin A							55.0	56.0	56.0					22																	24718054		2203	4300	6503	SO:0001587	stop_gained	23384				cell cycle|cell division			g.chr22:24718054C>G	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1106C>G	22.37:g.24718054C>G	ENSP00000325785:p.Ser369*					CYTSA_uc002zzv.3_Nonsense_Mutation_p.S369*|CYTSA_uc011ajq.1_Nonsense_Mutation_p.S369*	p.S369*	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			5	1413	+			369					B7Z758|F5H1H6|O15081	Nonsense_Mutation	SNP	ENST00000314328.9	37	c.1106C>G	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398283	0.96030	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	.	.	.	4.06	4.06	0.47325	.	0.130212	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-11.9093	16.4834	0.84171	0.0:1.0:0.0:0.0	.	.	.	.	X	397;369;369;369;369	.	ENSP00000325785:S369X	S	+	2	0	SPECC1L	23048054	1.000000	0.71417	0.982000	0.44146	0.717000	0.41224	7.188000	0.77739	2.581000	0.87130	0.491000	0.48974	TCA		PASS	0.572	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		13	95	13	95	---	---	---	---
PIWIL3	440822	broad.mit.edu	37	22	25115858	25115858	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:25115858C>T	ENST00000332271.5	-	20	2805	c.2389G>A	c.(2389-2391)Gac>Aac	p.D797N	PIWIL3_ENST00000527701.1_Missense_Mutation_p.D679N|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D679N	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	797	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.D797N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATAAAAAAGTCATACCTGGAA	0.368																																						uc003abd.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2389-2391)GAC>AAC		piwi-like 3							73.0	69.0	70.0					22																	25115858		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25115858C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2389G>A	22.37:g.25115858C>T	ENSP00000330031:p.Asp797Asn					PIWIL3_uc011ajx.1_Missense_Mutation_p.D679N|PIWIL3_uc011ajy.1_Missense_Mutation_p.D679N|PIWIL3_uc010gut.1_Missense_Mutation_p.D788N	p.D797N	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			20	2806	-			797			Piwi.			Missense_Mutation	SNP	ENST00000332271.5	37	c.2389G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553207	0.65425	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.20738	2.05;2.05;2.05	2.82	2.82	0.32997	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.055969	0.64402	D	0.000002	T	0.52533	0.1740	M	0.92649	3.33	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.64989	-0.6277	10	0.87932	D	0	-10.0073	11.8252	0.52263	0.0:1.0:0.0:0.0	.	679;788;797	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	N	797;679;679	ENSP00000330031:D797N;ENSP00000431843:D679N;ENSP00000435718:D679N	ENSP00000330031:D797N	D	-	1	0	PIWIL3	23445858	1.000000	0.71417	0.920000	0.36463	0.559000	0.35586	6.130000	0.71663	1.888000	0.54679	0.563000	0.77884	GAC		PASS	0.368	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		17	107	17	107	---	---	---	---
RHBDD3	25807	broad.mit.edu	37	22	29656762	29656762	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:29656762G>C	ENST00000216085.7	-	5	1048	c.624C>G	c.(622-624)tgC>tgG	p.C208W	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	208					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.C208W(1)		lung(1)|ovary(1)	2						TCAGGGGCCAGCACCCCGCCA	0.687																																						uc003aeq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(622-624)TGC>TGG		rhomboid domain containing 3							16.0	17.0	17.0					22																	29656762		2197	4288	6485	SO:0001583	missense	25807					integral to membrane	serine-type endopeptidase activity	g.chr22:29656762G>C	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 3"""	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.624C>G	22.37:g.29656762G>C	ENSP00000216085:p.Cys208Trp					RHBDD3_uc003aer.1_RNA	p.C208W	NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN			5	996	-			208					Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	ENST00000216085.7	37	c.624C>G	CCDS13850.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838479	0.32513	.	.	ENSG00000100263	ENST00000216085	T	0.22945	1.93	4.96	4.96	0.65561	.	0.341267	0.25122	N	0.032972	T	0.37404	0.1002	L	0.51422	1.61	0.53688	D	0.999979	D	0.76494	0.999	P	0.61800	0.894	T	0.02958	-1.1089	10	0.37606	T	0.19	-8.5828	9.1852	0.37165	0.0959:0.0:0.9041:0.0	.	208	Q9Y3P4	RHBD3_HUMAN	W	208	ENSP00000216085:C208W	ENSP00000216085:C208W	C	-	3	2	RHBDD3	27986762	0.945000	0.32115	1.000000	0.80357	0.131000	0.20780	0.341000	0.19909	2.595000	0.87683	0.655000	0.94253	TGC		PASS	0.687	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		5	9	5	9	---	---	---	---
AP1B1	162	broad.mit.edu	37	22	29754886	29754886	+	Silent	SNP	G	G	A	rs139994318		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:29754886G>A	ENST00000405198.1	-	4	385	c.354C>T	c.(352-354)atC>atT	p.I118I	AP1B1_ENST00000402502.1_Silent_p.I118I|AP1B1_ENST00000317368.7_Silent_p.I118I|AP1B1_ENST00000356015.2_Silent_p.I118I|AP1B1_ENST00000357586.2_Silent_p.I118I|AP1B1_ENST00000432560.2_Silent_p.I118I|AP1B1_ENST00000415447.1_Silent_p.I118I			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	118					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.I118I(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGTACTCTGTGATCTTGTCAA	0.622																																						uc003afj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(352-354)ATC>ATT		adaptor-related protein complex 1 beta 1 subunit		G	,,	0,4406		0,0,2203	82.0	60.0	68.0		354,354,354	2.3	1.0	22	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	AP1B1	NM_001127.3,NM_001166019.1,NM_145730.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	118/950,118/920,118/940	29754886	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29754886G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.354C>T	22.37:g.29754886G>A						AP1B1_uc003afi.2_Silent_p.I118I|AP1B1_uc003afk.2_Silent_p.I118I|AP1B1_uc003afl.2_Silent_p.I118I	p.I118I	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			5	538	-			118					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.354C>T	CCDS13855.1																																																																																				PASS	0.622	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		4	33	4	33	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30416605	30416605	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:30416605C>G	ENST00000401950.2	+	17	3299	c.2957C>G	c.(2956-2958)tCa>tGa	p.S986*	MTMR3_ENST00000323630.5_Nonsense_Mutation_p.S850*|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Nonsense_Mutation_p.S986*|MTMR3_ENST00000351488.3_Nonsense_Mutation_p.S986*|MTMR3_ENST00000333027.3_Nonsense_Mutation_p.S986*	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	986					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.S986*(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CACTTACACTCAAGGAACTTG	0.597																																						uc003agv.3																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2956-2958)TCA>TGA		myotubularin-related protein 3 isoform c							74.0	59.0	64.0					22																	30416605		2203	4300	6503	SO:0001587	stop_gained	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416605C>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2957C>G	22.37:g.30416605C>G	ENSP00000384651:p.Ser986*					MTMR3_uc003agu.3_Nonsense_Mutation_p.S986*|MTMR3_uc003agw.3_Nonsense_Mutation_p.S986*	p.S986*	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3285	+			986					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Nonsense_Mutation	SNP	ENST00000401950.2	37	c.2957C>G	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	38	6.732648	0.97796	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	.	.	.	5.04	1.63	0.23807	.	0.837576	0.10499	N	0.667455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	3.0795	0.06258	0.0:0.446:0.2172:0.3368	.	.	.	.	X	986;986;850;986;986	.	ENSP00000318070:S850X	S	+	2	0	MTMR3	28746605	0.002000	0.14202	0.792000	0.32020	0.996000	0.88848	1.660000	0.37397	1.259000	0.44117	0.655000	0.94253	TCA		PASS	0.597	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		15	98	15	98	---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31091221	31091221	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:31091221G>C	ENST00000332585.6	+	1	429	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.E109Q|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Missense_Mutation_p.E109Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	109					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.E109Q(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCCGGGGTCAGAGTCAAGCTC	0.682																																						uc003aiy.1																			2	Substitution - Missense(2)		ovary(1)|lung(1)	breast(1)|skin(1)	2						c.(325-327)GAG>CAG		oxysterol binding protein 2 isoform a							29.0	38.0	35.0					22																	31091221		2082	4215	6297	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31091221G>C		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.325G>C	22.37:g.31091221G>C	ENSP00000332576:p.Glu109Gln					OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.E109Q|OSBP2_uc011alb.1_Missense_Mutation_p.E109Q|OSBP2_uc003aiz.1_Missense_Mutation_p.E109Q	p.E109Q	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			1	429	+			109					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.325G>C	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450274	0.43531	.	.	ENSG00000184792	ENST00000332585;ENST00000382310;ENST00000446658	T;T;T	0.35236	1.38;1.32;1.38	3.23	3.23	0.37069	.	15.719100	0.00166	N	0.000000	T	0.24812	0.0602	N	0.14661	0.345	0.24843	N	0.99245	B;B;B	0.34214	0.442;0.165;0.165	B;B;B	0.26517	0.07;0.051;0.051	T	0.21280	-1.0250	10	0.45353	T	0.12	.	10.1948	0.43047	0.0:0.0:0.8007:0.1993	.	109;109;109	B4DFA8;Q0VF99;Q969R2	.;.;OSBP2_HUMAN	Q	109	ENSP00000332576:E109Q;ENSP00000371747:E109Q;ENSP00000392080:E109Q	ENSP00000332576:E109Q	E	+	1	0	OSBP2	29421221	0.002000	0.14202	0.170000	0.22879	0.258000	0.26162	1.010000	0.29898	2.131000	0.65755	0.655000	0.94253	GAG		PASS	0.682	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		14	61	14	61	---	---	---	---
RNF185	91445	broad.mit.edu	37	22	31600551	31600551	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:31600551G>T	ENST00000326132.6	+	7	717	c.558G>T	c.(556-558)atG>atT	p.M186I	RNF185_ENST00000266252.7_Missense_Mutation_p.M130I|RNF185_ENST00000426256.2_Missense_Mutation_p.M124I|RNF185-AS1_ENST00000526089.1_RNA	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	186					autophagy (GO:0006914)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.M186I(1)		NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TGGTGATCATGTTCTGGCTCC	0.572																																						uc003akb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)ATG>ATT		ring finger protein 185 isoform 1							113.0	97.0	102.0					22																	31600551		2203	4296	6499	SO:0001583	missense	91445					integral to membrane	zinc ion binding	g.chr22:31600551G>T		CCDS13890.1, CCDS46689.1	22q12.2	2013-01-09			ENSG00000138942	ENSG00000138942		"""RING-type (C3HC4) zinc fingers"""	26783	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38628"""					12477932	Standard	NM_152267		Approved	FLJ38628	uc003akb.3	Q96GF1	OTTHUMG00000151253	ENST00000326132.6:c.558G>T	22.37:g.31600551G>T	ENSP00000320508:p.Met186Ile					RNF185_uc010gwh.2_RNA|RNF185_uc011alm.1_Missense_Mutation_p.M124I|RNF185_uc003akc.2_Missense_Mutation_p.M124I|RNF185_uc003ake.2_Missense_Mutation_p.M130I	p.M186I	NM_152267	NP_689480	Q96GF1	RN185_HUMAN			7	758	+			186			Helical; (Potential).		A8K5C1|A9X3T8|Q8N900	Missense_Mutation	SNP	ENST00000326132.6	37	c.558G>T	CCDS13890.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636779	0.29068	.	.	ENSG00000138942	ENST00000426256;ENST00000326132;ENST00000266252	D	0.93133	-3.17	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87684	0.6239	N	0.00873	-1.125	0.80722	D	1	P;P;P	0.48294	0.656;0.908;0.525	P;D;B	0.64144	0.584;0.922;0.38	D	0.84274	0.0490	10	0.02654	T	1	.	18.7541	0.91826	0.0:0.0:1.0:0.0	.	130;124;186	Q96GF1-2;B4DMD6;Q96GF1	.;.;RN185_HUMAN	I	124;186;130	ENSP00000320508:M186I	ENSP00000266252:M130I	M	+	3	0	RNF185	29930551	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.367000	0.79558	2.741000	0.93983	0.650000	0.86243	ATG		PASS	0.572	RNF185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321927.2	NM_152267		68	170	68	170	---	---	---	---
DRG1	4733	broad.mit.edu	37	22	31829895	31829895	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:31829895C>G	ENST00000331457.4	+	9	1203	c.1042C>G	c.(1042-1044)Cag>Gag	p.Q348E		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	348					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)	p.Q348E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						ACACAATCCTCAGAAAGTGGG	0.453																																						uc003aku.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1042-1044)CAG>GAG		developmentally regulated GTP binding protein 1							138.0	114.0	122.0					22																	31829895		2203	4300	6503	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31829895C>G	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.1042C>G	22.37:g.31829895C>G	ENSP00000329715:p.Gln348Glu					uc003akv.1_5'Flank	p.Q348E	NM_004147	NP_004138	Q9Y295	DRG1_HUMAN			9	1173	+			348					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.1042C>G	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682072	0.88542	.	.	ENSG00000185721	ENST00000331457	T	0.21932	1.98	5.29	5.29	0.74685	TGS-like (1);TGS (1);	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72530	-0.4265	10	0.87932	D	0	-34.3352	16.4534	0.84003	0.0:1.0:0.0:0.0	.	348	Q9Y295	DRG1_HUMAN	E	348	ENSP00000329715:Q348E	ENSP00000329715:Q348E	Q	+	1	0	DRG1	30159895	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.777000	0.75028	2.643000	0.89663	0.655000	0.94253	CAG		PASS	0.453	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	NM_004147		23	102	23	102	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32289687	32289687	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:32289687G>C	ENST00000382112.3	+	38	4196	c.4126G>C	c.(4126-4128)Gag>Cag	p.E1376Q	DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E1385Q|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E1285Q|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E1354Q|DEPDC5_ENST00000400246.1_Missense_Mutation_p.E1385Q|DEPDC5_ENST00000400248.2_Missense_Mutation_p.E1354Q|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E1363Q|DEPDC5_ENST00000539165.1_Missense_Mutation_p.E202Q	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1385					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.E1285Q(1)|p.E1354Q(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGCAGCCTTTGAGATCAAGCT	0.537																																						uc003als.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(4060-4062)GAG>CAG		DEP domain containing 5 isoform 1							82.0	87.0	85.0					22																	32289687		2055	4203	6258	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32289687G>C	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4126G>C	22.37:g.32289687G>C	ENSP00000371546:p.Glu1376Gln					DEPDC5_uc011als.1_Missense_Mutation_p.E1285Q|DEPDC5_uc011alu.1_Missense_Mutation_p.E1385Q|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.E1376Q|DEPDC5_uc003alu.2_Missense_Mutation_p.E803Q|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.E652Q|DEPDC5_uc011alx.1_Missense_Mutation_p.E202Q|DEPDC5_uc010gwk.2_Missense_Mutation_p.E380Q|DEPDC5_uc011aly.1_Missense_Mutation_p.E202Q	p.E1354Q	NM_014662	NP_055477	O75140	DEPD5_HUMAN			38	4202	+			1354					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.4060G>C	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.009666|5.009666	0.93346|0.93346	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165|ENST00000433147	T;T;T;T;T;T;T|.	0.34667|.	1.35;1.77;1.77;1.74;1.78;1.74;1.77|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73783|.	0.3631|.	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.998;0.999;1.0;0.998;0.997;0.997|.	D;D;D;D;D;D|.	0.91635|.	0.99;0.993;0.999;0.994;0.986;0.986|.	T|.	0.73649|.	-0.3916|.	10|.	0.66056|.	D|.	0.02|.	.|.	17.2842|17.2842	0.87137|0.87137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1385;1285;771;1363;1376;1354|.	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140|.	.;.;.;.;.;DEPD5_HUMAN|.	Q|S	1285;1363;1354;1285;1385;1376;1385;1354;202|760	ENSP00000440210:E1285Q;ENSP00000266091:E1363Q;ENSP00000383108:E1354Q;ENSP00000383105:E1385Q;ENSP00000371546:E1376Q;ENSP00000371545:E1385Q;ENSP00000383107:E1354Q|.	ENSP00000266091:E1363Q|.	E|X	+|+	1|2	0|2	DEPDC5|DEPDC5	30619687|30619687	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	9.513000|9.513000	0.98010|0.98010	2.310000|2.310000	0.77875|0.77875	0.563000|0.563000	0.77884|0.77884	GAG|TGA		PASS	0.537	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		7	112	7	112	---	---	---	---
BPIFC	254240	broad.mit.edu	37	22	32813092	32813092	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:32813092C>G	ENST00000397452.1	-	14	1414	c.1304G>C	c.(1303-1305)gGa>gCa	p.G435A	BPIFC_ENST00000534972.1_Missense_Mutation_p.G159A|BPIFC_ENST00000300399.3_Missense_Mutation_p.G435A|BPIFC_ENST00000432451.2_Missense_Mutation_p.G192A			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	435						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.G435A(1)									TGGGAGGACTCCAAAGTGAAG	0.378																																						uc003amn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1303-1305)GGA>GCA		bactericidal/permeability-increasing							165.0	171.0	169.0					22																	32813092		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32813092C>G	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1304G>C	22.37:g.32813092C>G	ENSP00000380594:p.Gly435Ala					BPIL2_uc010gwo.2_Missense_Mutation_p.G192A|BPIL2_uc011amb.1_Missense_Mutation_p.G159A	p.G435A	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			13	1304	-			435					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.1304G>C	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	8.267	0.812448	0.16537	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	5.76	5.76	0.90799	.	0.061376	0.64402	D	0.000004	T	0.08626	0.0214	L	0.35414	1.06	0.43480	D	0.995703	B;B	0.25351	0.124;0.1	B;B	0.26310	0.068;0.066	T	0.33214	-0.9877	10	0.18276	T	0.48	-11.8192	16.8927	0.86092	0.0:1.0:0.0:0.0	.	192;435	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	A	435;435;159;192	ENSP00000380594:G435A;ENSP00000300399:G435A;ENSP00000439123:G159A;ENSP00000408920:G192A	ENSP00000300399:G435A	G	-	2	0	BPIFC	31143092	0.908000	0.30866	0.961000	0.40146	0.922000	0.55478	1.867000	0.39499	2.713000	0.92767	0.655000	0.94253	GGA		PASS	0.378	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		16	399	16	399	---	---	---	---
SYN3	8224	broad.mit.edu	37	22	32929781	32929781	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:32929781C>G	ENST00000358763.2	-	10	1335	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	SYN3_ENST00000332840.5_Missense_Mutation_p.E365Q	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	365	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.E365Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCCCTCACCTCGATGATGTAA	0.597																																						uc003amx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1093-1095)GAG>CAG		synapsin III isoform IIIa							107.0	68.0	81.0					22																	32929781		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32929781C>G	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1093G>C	22.37:g.32929781C>G	ENSP00000351614:p.Glu365Gln					SYN3_uc003amy.2_Missense_Mutation_p.E365Q|SYN3_uc003amz.2_Missense_Mutation_p.E364Q	p.E365Q	NM_003490	NP_003481	O14994	SYN3_HUMAN			9	1252	-			365			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.1093G>C	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188867	0.78789	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.47528	0.84;0.84	5.2	5.2	0.72013	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.81435	-0.0934	10	0.72032	D	0.01	-7.1825	18.7514	0.91818	0.0:1.0:0.0:0.0	.	364;365;365	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	Q	365	ENSP00000351614:E365Q;ENSP00000330219:E365Q	ENSP00000330219:E365Q	E	-	1	0	SYN3	31259781	1.000000	0.71417	0.946000	0.38457	0.931000	0.56810	7.818000	0.86416	2.440000	0.82611	0.655000	0.94253	GAG		PASS	0.597	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			8	54	8	54	---	---	---	---
KCNJ4	3761	broad.mit.edu	37	22	38823708	38823708	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:38823708C>G	ENST00000303592.3	-	2	688	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	144					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)	p.E144Q(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGGCACTCCTCTGTCACGCAC	0.617																																						uc003avs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)GAG>CAG		potassium inwardly-rectifying channel J4							86.0	77.0	80.0					22																	38823708		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823708C>G	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.430G>C	22.37:g.38823708C>G	ENSP00000306497:p.Glu144Gln					KCNJ4_uc003avt.1_Missense_Mutation_p.E144Q	p.E144Q	NM_004981	NP_004972	P48050	IRK4_HUMAN			2	527	-	Melanoma(58;0.0286)		144			Extracellular (By similarity).		Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.430G>C	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142459	0.77888	.	.	ENSG00000168135	ENST00000303592	D	0.95918	-3.85	4.94	4.94	0.65067	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.052907	0.85682	D	0.000000	D	0.97826	0.9286	M	0.86651	2.83	0.50813	D	0.999893	D	0.61697	0.99	D	0.65323	0.934	D	0.98611	1.0663	10	0.72032	D	0.01	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	144	P48050	IRK4_HUMAN	Q	144	ENSP00000306497:E144Q	ENSP00000306497:E144Q	E	-	1	0	KCNJ4	37153654	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.783000	0.85696	2.472000	0.83506	0.555000	0.69702	GAG		PASS	0.617	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		12	103	12	103	---	---	---	---
WBP2NL	164684	broad.mit.edu	37	22	42423026	42423026	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:42423026C>T	ENST00000328823.9	+	6	802	c.771C>T	c.(769-771)ctC>ctT	p.L257L	WBP2NL_ENST00000543212.1_Silent_p.L183L	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	257	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)	p.L257L(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCCCACCTCTCGGATATGGAG	0.612																																						uc011ape.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(769-771)CTC>CTT		WBP2 N-terminal like							124.0	145.0	138.0					22																	42423026		2203	4300	6503	SO:0001819	synonymous_variant	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42423026C>T	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.771C>T	22.37:g.42423026C>T						WBP2NL_uc003bbt.2_Silent_p.L257L|WBP2NL_uc011apk.1_Silent_p.L129L|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA	p.L257L	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN			7	787	+			257			10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|9.|Gly-rich.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Silent	SNP	ENST00000328823.9	37	c.771C>T	CCDS14029.1																																																																																				PASS	0.612	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		66	402	66	402	---	---	---	---
SERHL2	253190	broad.mit.edu	37	22	42956238	42956238	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:42956238C>G	ENST00000327678.5	+	8	682	c.580C>G	c.(580-582)Ctc>Gtc	p.L194V	SERHL2_ENST00000407614.4_Missense_Mutation_p.L14V|SERHL2_ENST00000340239.4_Intron|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000335879.5_Missense_Mutation_p.L130V	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2	0							hydrolase activity (GO:0016787)	p.L194V(1)		breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CGGGGAGCTTCTCCTGCAAAG	0.512																																						uc003bcr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(580-582)CTC>GTC		serine hydrolase-like 2							84.0	89.0	87.0					22																	42956238		2203	4299	6502	SO:0001583	missense	253190					perinuclear region of cytoplasm|peroxisome	hydrolase activity	g.chr22:42956238C>G		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892	ENST00000327678.5:c.580C>G	22.37:g.42956238C>G	ENSP00000331376:p.Leu194Val					SERHL_uc011apm.1_Intron|SERHL2_uc011apn.1_Missense_Mutation_p.L180V|SERHL2_uc010gyz.2_Missense_Mutation_p.L130V|SERHL2_uc010gyy.2_RNA|SERHL2_uc011apo.1_RNA|RRP7B_uc003bcs.2_Intron	p.L194V	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN			8	682	+			194					Q5JZ95|Q9UH21	Missense_Mutation	SNP	ENST00000327678.5	37	c.580C>G	CCDS14037.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342858	0.24339	.	.	ENSG00000183569	ENST00000327678;ENST00000356720;ENST00000407614;ENST00000335879	T;T;T	0.47528	0.84;2.46;0.84	3.65	1.48	0.22813	.	0.082006	0.50627	D	0.000104	T	0.67373	0.2886	M	0.89840	3.065	0.26405	N	0.976362	D;D;D	0.89917	0.997;0.995;1.0	D;P;D	0.75020	0.923;0.902;0.985	T	0.56679	-0.7939	10	0.72032	D	0.01	.	6.3829	0.21544	0.1656:0.674:0.0:0.1604	.	180;130;194	B4DHQ4;Q9H4I8-2;Q9H4I8	.;.;SEHL2_HUMAN	V	194;14;14;130	ENSP00000331376:L194V;ENSP00000385691:L14V;ENSP00000336578:L130V	ENSP00000331376:L194V	L	+	1	0	SERHL2	41286182	0.054000	0.20591	0.199000	0.23439	0.233000	0.25261	-0.062000	0.11674	0.864000	0.35578	0.484000	0.47621	CTC		PASS	0.512	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		11	126	11	126	---	---	---	---
KIAA0930	23313	broad.mit.edu	37	22	45598926	45598926	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:45598926G>T	ENST00000336156.5	-	7	862	c.797C>A	c.(796-798)aCa>aAa	p.T266K	KIAA0930_ENST00000391627.2_Missense_Mutation_p.T232K|KIAA0930_ENST00000443310.3_Missense_Mutation_p.T248K|KIAA0930_ENST00000474515.1_5'Flank|MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000251993.7_Missense_Mutation_p.T271K	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	266								p.T271K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						ACAGGGGGATGTGTCACCTGT	0.632																																						uc003bfx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)ACA>AAA		hypothetical protein LOC23313 isoform b							104.0	98.0	100.0					22																	45598926		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45598926G>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.797C>A	22.37:g.45598926G>T	ENSP00000336720:p.Thr266Lys					C22orf9_uc010gzw.1_Missense_Mutation_p.T118K|C22orf9_uc003bfv.1_Missense_Mutation_p.T275K|C22orf9_uc003bfw.1_Missense_Mutation_p.T271K|C22orf9_uc010gzx.2_Missense_Mutation_p.T248K|MIR1249_hsa-mir-1249|MI0006384_5'Flank	p.T266K	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)	7	863	-		Ovarian(80;0.00965)|all_neural(38;0.0244)	266					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.797C>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383679	0.82792	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	4.88	4.88	0.63580	.	0.057896	0.85682	D	0.000000	T	0.51415	0.1673	L	0.51422	1.61	0.50039	D	0.999841	P;P;P;P	0.37781	0.608;0.518;0.465;0.483	B;B;B;B	0.32289	0.143;0.119;0.113;0.122	T	0.54741	-0.8248	9	0.37606	T	0.19	-31.056	18.1137	0.89543	0.0:0.0:1.0:0.0	.	248;266;271;337	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	K	266;151;271;232;248	.	ENSP00000251993:T271K	T	-	2	0	KIAA0930	43977590	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.126000	0.94411	2.280000	0.76307	0.555000	0.69702	ACA		PASS	0.632	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		45	140	45	140	---	---	---	---
KIAA0930	23313	broad.mit.edu	37	22	45601129	45601129	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:45601129T>A	ENST00000336156.5	-	5	550	c.485A>T	c.(484-486)aAc>aTc	p.N162I	KIAA0930_ENST00000391627.2_Missense_Mutation_p.N128I|KIAA0930_ENST00000443310.3_Missense_Mutation_p.N144I|KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000251993.7_Missense_Mutation_p.N167I	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	162								p.N167I(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GAAGAAGATGTTGGGGTAGCT	0.547																																						uc003bfx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)AAC>ATC		hypothetical protein LOC23313 isoform b							177.0	138.0	151.0					22																	45601129		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45601129T>A	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.485A>T	22.37:g.45601129T>A	ENSP00000336720:p.Asn162Ile					C22orf9_uc010gzw.1_Missense_Mutation_p.N14I|C22orf9_uc003bfv.1_Missense_Mutation_p.N171I|C22orf9_uc003bfw.1_Missense_Mutation_p.N167I|C22orf9_uc010gzx.2_Missense_Mutation_p.N144I	p.N162I	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)	5	551	-		Ovarian(80;0.00965)|all_neural(38;0.0244)	162					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.485A>T	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637432	0.87760	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.39	4.39	0.52855	.	0.042911	0.85682	D	0.000000	T	0.76962	0.4061	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.76494	0.997;0.994;0.999;0.999	D;D;D;D	0.81914	0.995;0.94;0.967;0.985	T	0.80174	-0.1492	9	0.72032	D	0.01	-19.3461	13.9248	0.63955	0.0:0.0:0.0:1.0	.	144;162;167;233	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	I	162;47;167;128;144;128;144	.	ENSP00000251993:N167I	N	-	2	0	KIAA0930	43979793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.778000	0.85637	1.760000	0.52011	0.459000	0.35465	AAC		PASS	0.547	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		30	125	30	125	---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50279761	50279761	+	Silent	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:50279761G>A	ENST00000216268.5	+	2	2928	c.2451G>A	c.(2449-2451)ctG>ctA	p.L817L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	817						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L817L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAGACGCTGAACGAGGGGG	0.612																																						uc003bix.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2449-2451)CTG>CTA		zinc finger, BED-type containing 4							38.0	38.0	38.0					22																	50279761		2203	4299	6502	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50279761G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2451G>A	22.37:g.50279761G>A							p.L817L	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2921	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	817					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.2451G>A	CCDS33677.1																																																																																				PASS	0.612	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		6	26	6	26	---	---	---	---
PPP6R2	9701	broad.mit.edu	37	22	50845188	50845188	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr22:50845188G>A	ENST00000216061.5	+	5	668	c.298G>A	c.(298-300)Gag>Aag	p.E100K	PPP6R2_ENST00000359139.3_Missense_Mutation_p.E100K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.E100K|PPP6R2_ENST00000395741.3_Missense_Mutation_p.E100K			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	100						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.E100K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CGGTGGGGACGAGAGCCTGCT	0.547																																						uc003blb.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(298-300)GAG>AAG		SAPS domain family, member 2							197.0	192.0	194.0					22																	50845188		2203	4300	6503	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50845188G>A	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.298G>A	22.37:g.50845188G>A	ENSP00000216061:p.Glu100Lys					SAPS2_uc003bky.1_Missense_Mutation_p.E100K|SAPS2_uc003bkz.1_Missense_Mutation_p.E100K|SAPS2_uc003blc.2_Missense_Mutation_p.E100K|SAPS2_uc003bla.1_Missense_Mutation_p.E100K	p.E100K	NM_014678	NP_055493	O75170	PP6R2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.222)	5	720	+		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	100					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.298G>A		.	.	.	.	.	.	.	.	.	.	g	18.90	3.722006	0.68959	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.28	5.28	0.74379	.	0.100679	0.64402	D	0.000003	T	0.51550	0.1681	M	0.74546	2.27	0.58432	D	0.999996	D;P;D;D;D	0.62365	0.991;0.94;0.968;0.964;0.968	P;B;P;B;P	0.56042	0.79;0.25;0.726;0.433;0.726	T	0.57075	-0.7873	10	0.87932	D	0	-13.2307	17.6863	0.88257	0.0:0.0:1.0:0.0	.	100;100;100;100;100	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	K	100	ENSP00000352051:E100K;ENSP00000379090:E100K;ENSP00000379093:E100K;ENSP00000216061:E100K	ENSP00000216061:E100K	E	+	1	0	PPP6R2	49192054	1.000000	0.71417	0.164000	0.22755	0.044000	0.14063	6.232000	0.72313	2.478000	0.83669	0.550000	0.68814	GAG		PASS	0.547	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		64	399	64	399	---	---	---	---
ARSF	416	broad.mit.edu	37	X	3021944	3021944	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:3021944G>A	ENST00000381127.1	+	9	1465	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	ARSF_ENST00000359361.2_Missense_Mutation_p.G415E|ARSF_ENST00000537104.1_Missense_Mutation_p.G415E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	415					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 vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.G415E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCAGTGTCAGGAGGAAGTCTC	0.443																																						uc004cre.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1243-1245)GGA>GAA		arylsulfatase F precursor							88.0	83.0	85.0					X																	3021944		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3021944G>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1244G>A	X.37:g.3021944G>A	ENSP00000370519:p.Gly415Glu					ARSF_uc004crf.1_Missense_Mutation_p.G415E	p.G415E	NM_004042	NP_004033	P54793	ARSF_HUMAN			9	1465	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	415					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.1244G>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116316	0.56505	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.97328	-4.34;-4.34;-4.34	3.53	3.53	0.40419	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.063426	0.64402	U	0.000006	D	0.98664	0.9552	M	0.93375	3.41	0.47511	D	0.999446	D	0.58268	0.982	D	0.70016	0.967	D	0.99297	1.0900	10	0.54805	T	0.06	.	14.4629	0.67465	0.0:0.0:1.0:0.0	.	415	P54793	ARSF_HUMAN	E	415	ENSP00000370519:G415E;ENSP00000445594:G415E;ENSP00000352319:G415E	ENSP00000352319:G415E	G	+	2	0	ARSF	3031944	1.000000	0.71417	0.004000	0.12327	0.044000	0.14063	4.787000	0.62432	1.374000	0.46228	0.411000	0.27672	GGA		PASS	0.443	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			53	44	53	44	---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13771553	13771553	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:13771553G>C	ENST00000340096.6	+	11	1449	c.1122G>C	c.(1120-1122)aaG>aaC	p.K374N	OFD1_ENST00000380567.1_Missense_Mutation_p.K234N|OFD1_ENST00000380550.3_Missense_Mutation_p.K334N|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	374					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.K374N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ATGAAAGGAAGAATAAAGGTG	0.353																																						uc004cvp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1120-1122)AAG>AAC		oral-facial-digital syndrome 1							100.0	95.0	97.0					X																	13771553		2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13771553G>C	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1122G>C	X.37:g.13771553G>C	ENSP00000344314:p.Lys374Asn					OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.K234N|OFD1_uc010nen.2_Missense_Mutation_p.K373N|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.K333N|OFD1_uc004cvv.3_Missense_Mutation_p.K333N|OFD1_uc010neo.1_Missense_Mutation_p.K120N	p.K374N	NM_003611	NP_003602	O75665	OFD1_HUMAN			11	1481	+			374			Potential.		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1122G>C	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	17.91	3.504884	0.64410	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D	0.96716	-2.31;-4.1;-2.04	5.79	2.97	0.34412	.	0.199956	0.52532	D	0.000079	D	0.97059	0.9039	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.76494	0.977;0.999;0.999;0.999;0.999	P;D;D;D;D	0.72075	0.73;0.968;0.913;0.976;0.936	D	0.95315	0.8415	10	0.56958	D	0.05	-15.5906	7.9004	0.29731	0.5301:0.0:0.4699:0.0	.	197;374;334;234;374	F5H2Z4;A8K2T9;O75665-3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	N	334;374;234;197	ENSP00000369923:K334N;ENSP00000344314:K374N;ENSP00000369941:K234N	ENSP00000344314:K374N	K	+	3	2	OFD1	13681474	1.000000	0.71417	0.969000	0.41365	0.960000	0.62799	1.539000	0.36104	0.188000	0.20168	0.600000	0.82982	AAG		PASS	0.353	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		4	118	4	118	---	---	---	---
PDHA1	5160	broad.mit.edu	37	X	19369418	19369418	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:19369418T>C	ENST00000422285.2	+	4	416	c.311T>C	c.(310-312)cTg>cCg	p.L104P	PDHA1_ENST00000379806.5_Missense_Mutation_p.L142P|PDHA1_ENST00000540249.1_Missense_Mutation_p.L104P|PDHA1_ENST00000545074.1_Missense_Mutation_p.L111P|PDHA1_ENST00000379805.3_Missense_Mutation_p.L104P			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	104					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.L104P(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TGTGTGGGCCTGGAGGCCGGC	0.498																																						uc004czg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(310-312)CTG>CCG		pyruvate dehydrogenase E1 alpha 1 precursor	NADH(DB00157)						96.0	89.0	91.0					X																	19369418		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369418T>C		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.311T>C	X.37:g.19369418T>C	ENSP00000394382:p.Leu104Pro					PDHA1_uc004czh.3_Missense_Mutation_p.L139P|PDHA1_uc011mjc.1_Missense_Mutation_p.L108P|PDHA1_uc011mjd.1_Missense_Mutation_p.L101P|PDHA1_uc010nfk.2_Missense_Mutation_p.L101P	p.L104P	NM_000284	NP_000275	P08559	ODPA_HUMAN			4	456	+	Hepatocellular(33;0.183)		104					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.311T>C	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333195	0.81801	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97575	-3.88;-3.88;-4.44;-3.88;-3.88;-3.88;-3.88	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.117745	0.64402	D	0.000020	D	0.98270	0.9427	M	0.79693	2.465	0.80722	D	1	B;D;D;D;D	0.69078	0.058;0.997;0.997;0.984;0.997	B;D;D;D;D	0.72982	0.128;0.973;0.979;0.932;0.979	D	0.99334	1.0910	10	0.87932	D	0	-17.2052	14.7508	0.69525	0.0:0.0:0.0:1.0	.	104;111;104;142;104	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	P	142;111;104;142;104;111;104	ENSP00000369134:L142P;ENSP00000438550:L111P;ENSP00000440761:L104P;ENSP00000406473:L142P;ENSP00000394382:L104P;ENSP00000348062:L111P;ENSP00000369133:L104P	ENSP00000348062:L111P	L	+	2	0	PDHA1	19279339	0.993000	0.37304	1.000000	0.80357	0.981000	0.71138	7.655000	0.83696	1.933000	0.56026	0.430000	0.28490	CTG		PASS	0.498	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			33	103	33	103	---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22292313	22292313	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:22292313C>A	ENST00000323684.1	+	1	1249	c.1205C>A	c.(1204-1206)aCg>aAg	p.T402K		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	402					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T402K(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGTCCACCAACGCGGAGTCCA	0.458																																						uc004dai.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(1204-1206)ACG>AAG		zinc finger protein 645							132.0	98.0	109.0					X																	22292313		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22292313C>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.1205C>A	X.37:g.22292313C>A	ENSP00000323348:p.Thr402Lys						p.T402K	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	1254	+			402					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.1205C>A	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	9.511	1.105750	0.20632	.	.	ENSG00000175809	ENST00000323684	T	0.30182	1.54	2.34	-2.21	0.06973	.	0.106722	0.64402	U	0.000008	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	B	0.33379	0.41	B	0.30179	0.112	T	0.10590	-1.0623	10	0.56958	D	0.05	.	3.5094	0.07703	0.0:0.2811:0.202:0.5169	.	402	Q8N7E2	ZN645_HUMAN	K	402	ENSP00000323348:T402K	ENSP00000323348:T402K	T	+	2	0	ZNF645	22202234	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	0.604000	0.24164	-0.546000	0.06216	-0.354000	0.07668	ACG		PASS	0.458	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		42	98	42	98	---	---	---	---
EIF2S3	1968	broad.mit.edu	37	X	24078262	24078262	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:24078262C>T	ENST00000253039.4	+	5	694	c.441C>T	c.(439-441)aaC>aaT	p.N147N		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	147	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.N147N(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						CTATGCTGAACGGTGCAGCAG	0.373																																						uc004dbc.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(439-441)AAC>AAT		eukaryotic translation initiation factor 2,							220.0	159.0	180.0					X																	24078262		2203	4300	6503	SO:0001819	synonymous_variant	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24078262C>T	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.441C>T	X.37:g.24078262C>T							p.N147N	NM_001415	NP_001406	P41091	IF2G_HUMAN			5	462	+			147					B5BTZ4	Silent	SNP	ENST00000253039.4	37	c.441C>T	CCDS14210.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953788	0.18431	.	.	ENSG00000130741	ENST00000423068	.	.	.	5.33	-0.608	0.11611	.	.	.	.	.	T	0.64649	0.2617	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58842	-0.7565	4	.	.	.	.	12.4966	0.55931	0.0:0.6896:0.0:0.3104	.	.	.	.	W	147	.	.	R	+	1	2	EIF2S3	23988183	0.997000	0.39634	0.973000	0.42090	0.913000	0.54294	0.560000	0.23500	-0.567000	0.06046	-1.322000	0.01289	CGG		PASS	0.373	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		11	54	11	54	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31496327	31496327	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:31496327C>T	ENST00000357033.4	-	59	9039	c.8833G>A	c.(8833-8835)Gag>Aag	p.E2945K	DMD_ENST00000445312.1_5'Flank|DMD_ENST00000343523.2_Missense_Mutation_p.E485K|DMD_ENST00000474231.1_Missense_Mutation_p.E485K|DMD_ENST00000541735.1_Missense_Mutation_p.E485K|DMD_ENST00000378677.2_Missense_Mutation_p.E2941K|DMD_ENST00000378707.3_Missense_Mutation_p.E485K|DMD_ENST00000359836.1_Missense_Mutation_p.E485K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2945					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E485K(1)|p.E2941K(1)|p.E2940K(1)|p.E2945K(1)|p.E1604K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGTCCAGCTCATCCGTGGCC	0.527																																						uc004dda.1																			5	Substitution - Missense(5)		lung(5)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8833-8835)GAG>AAG		dystrophin Dp427m isoform							66.0	53.0	57.0					X																	31496327		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31496327C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8833G>A	X.37:g.31496327C>T	ENSP00000354923:p.Glu2945Lys					DMD_uc004dcq.1_Missense_Mutation_p.E216K|DMD_uc004dcr.1_Missense_Mutation_p.E485K|DMD_uc004dcs.1_Missense_Mutation_p.E485K|DMD_uc004dct.1_Missense_Mutation_p.E485K|DMD_uc004dcu.1_Missense_Mutation_p.E485K|DMD_uc004dcv.1_Missense_Mutation_p.E485K|DMD_uc004dcw.2_Missense_Mutation_p.E1601K|DMD_uc004dcx.2_Missense_Mutation_p.E1604K|DMD_uc004dcz.2_Missense_Mutation_p.E2822K|DMD_uc004dcy.1_Missense_Mutation_p.E2941K|DMD_uc004ddb.1_Missense_Mutation_p.E2937K	p.E2945K	NM_004006	NP_003997	P11532	DMD_HUMAN			59	9077	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2945			Spectrin 22.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8833G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234591	0.58886	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.4	5.4	0.78164	.	0.000000	0.37095	U	0.002247	T	0.62048	0.2396	L	0.58428	1.81	0.41082	D	0.985533	B;P;D;P;P;B;B;B;P;P;P	0.57571	0.39;0.921;0.98;0.828;0.828;0.088;0.201;0.201;0.704;0.655;0.729	B;P;P;B;B;B;B;B;B;B;B	0.52454	0.437;0.542;0.699;0.437;0.437;0.126;0.088;0.088;0.294;0.194;0.444	T	0.60885	-0.7174	10	0.34782	T	0.22	.	18.4984	0.90873	0.0:1.0:0.0:0.0	.	2937;2945;2941;1604;1601;485;485;485;485;485;2822	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	K	2937;1604;1601;641;2941;2945;485;485;2945;2822;485;485;485	ENSP00000350765:E641K;ENSP00000367948:E2941K;ENSP00000354923:E2945K;ENSP00000352894:E485K;ENSP00000340057:E485K;ENSP00000367979:E485K;ENSP00000444119:E485K;ENSP00000417123:E485K	ENSP00000340057:E485K	E	-	1	0	DMD	31406248	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.977000	0.56874	2.397000	0.81536	0.529000	0.55759	GAG		PASS	0.527	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		18	14	18	14	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32305648	32305648	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:32305648T>C	ENST00000357033.4	-	43	6494	c.6288A>G	c.(6286-6288)caA>caG	p.Q2096Q	DMD_ENST00000378677.2_Silent_p.Q2092Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2096					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q2096Q(1)|p.Q2091Q(1)|p.Q2092Q(1)|p.Q755Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTACCTACCCTTGTCGGTCCT	0.403																																						uc004dda.1																			4	Substitution - coding silent(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6286-6288)CAA>CAG		dystrophin Dp427m isoform							191.0	163.0	173.0					X																	32305648		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32305648T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6288A>G	X.37:g.32305648T>C						DMD_uc004dcw.2_Silent_p.Q752Q|DMD_uc004dcx.2_Silent_p.Q755Q|DMD_uc004dcz.2_Silent_p.Q1973Q|DMD_uc004dcy.1_Silent_p.Q2092Q|DMD_uc004ddb.1_Silent_p.Q2088Q|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA	p.Q2096Q	NM_004006	NP_003997	P11532	DMD_HUMAN			43	6532	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2096			Spectrin 14.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.6288A>G	CCDS14233.1																																																																																				PASS	0.403	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		47	57	47	57	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37027712	37027712	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:37027712G>T	ENST00000358047.3	+	1	1281	c.1229G>T	c.(1228-1230)cGc>cTc	p.R410L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	410								p.R410L(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGCATATCTAAT	0.607													N|||	1	0.000264901	0.0008	0.0	3775	,	,		13318	0.0		0.0	False		,,,				2504	0.0					uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1228-1230)CGC>CTC		hypothetical protein LOC442444							54.0	55.0	54.0					X																	37027712		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027712G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1229G>T	X.37:g.37027712G>T	ENSP00000367913:p.Arg410Leu						p.R410L	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1243	+			410					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1229G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	6.066	0.380542	0.11466	.	.	ENSG00000198173	ENST00000358047	T	0.15952	2.38	0.53	-1.06	0.10002	.	.	.	.	.	T	0.24699	0.0599	L	0.46157	1.445	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.15521	-1.0434	9	0.26408	T	0.33	.	3.6538	0.08213	0.2398:0.5076:0.2526:0.0	.	410	Q5HY64	FA47C_HUMAN	L	410	ENSP00000367913:R410L	ENSP00000367913:R410L	R	+	2	0	FAM47C	36937633	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.908000	0.04063	-1.346000	0.02211	-1.101000	0.02118	CGC		PASS	0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		40	32	40	32	---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38163977	38163977	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:38163977T>C	ENST00000339363.3	-	8	1012	c.845A>G	c.(844-846)gAa>gGa	p.E282G	RPGR_ENST00000338898.3_Missense_Mutation_p.E282G|RPGR_ENST00000378505.2_Missense_Mutation_p.E282G|RPGR_ENST00000342811.3_Missense_Mutation_p.E282G|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.E282G|RPGR_ENST00000309513.3_Missense_Mutation_p.E282G			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	282					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.E282G(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TTCTGAAGTTTCAAAAAGAAA	0.383																																						uc004ded.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(844-846)GAA>GGA		retinitis pigmentosa GTPase regulator isoform C							48.0	45.0	46.0					X																	38163977		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38163977T>C	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.845A>G	X.37:g.38163977T>C	ENSP00000343671:p.Glu282Gly					RPGR_uc004deb.2_Missense_Mutation_p.E282G|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_5'UTR	p.E282G	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			8	1013	-			282			RCC1 5.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.845A>G		.	.	.	.	.	.	.	.	.	.	t	19.80	3.895130	0.72639	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.5	4.31	0.51392	.	0.059358	0.64402	D	0.000003	D	0.90113	0.6911	M	0.64170	1.965	0.50039	D	0.999848	D;P	0.89917	1.0;0.544	D;B	0.79108	0.992;0.341	D	0.89619	0.3847	10	0.72032	D	0.01	.	11.5366	0.50641	0.0:0.0:0.1481:0.8519	.	282;282	E9PE28;Q92834-2	.;.	G	282	ENSP00000343671:E282G;ENSP00000308783:E282G;ENSP00000340208:E282G;ENSP00000322219:E282G;ENSP00000339531:E282G;ENSP00000367766:E282G	ENSP00000308783:E282G	E	-	2	0	RPGR	38048921	1.000000	0.71417	0.856000	0.33681	0.855000	0.48748	7.464000	0.80887	0.709000	0.31976	0.336000	0.21669	GAA		PASS	0.383	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		29	22	29	22	---	---	---	---
KRBOX4	55634	broad.mit.edu	37	X	46332325	46332325	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:46332325C>T	ENST00000344302.4	+	6	1025	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000298190.6_Silent_p.L127L|KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000360017.5_3'UTR	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	132					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.L127L(1)									AAGCATTTATCTGAGCACAGA	0.378																																						uc004dgn.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)CTG>TTG		zinc finger family member 673 isoform 1							87.0	75.0	79.0					X																	46332325		2203	4300	6503	SO:0001819	synonymous_variant	55634				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chrX:46332325C>T		CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"""-"""	26007	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20344"""	300585	"""zinc finger protein 673"", ""zinc finger family member 673"""	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.394C>T	X.37:g.46332325C>T						ZNF673_uc004dgp.3_3'UTR|ZNF673_uc010nhl.2_3'UTR|ZNF673_uc004dgm.3_Silent_p.L127L	p.L132L	NM_001129898	NP_001123370	Q5JUW0	ZN673_HUMAN			6	693	+			132					A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Silent	SNP	ENST00000344302.4	37	c.394C>T	CCDS48097.1																																																																																				PASS	0.378	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056359.2	NM_017776		30	74	30	74	---	---	---	---
ERAS	3266	broad.mit.edu	37	X	48688086	48688086	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:48688086C>T	ENST00000338270.1	+	1	804	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	185					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.R185W(1)		endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GGCCAAAACACGGCAAGGCGT	0.622																																						uc004dky.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|urinary_tract(1)	5						c.(553-555)CGG>TGG		ES cell expressed Ras precursor							30.0	26.0	28.0					X																	48688086		2200	4298	6498	SO:0001583	missense	3266				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chrX:48688086C>T	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"""	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.553C>T	X.37:g.48688086C>T	ENSP00000339136:p.Arg185Trp						p.R185W	NM_181532	NP_853510	Q7Z444	RASE_HUMAN			1	804	+			185						Missense_Mutation	SNP	ENST00000338270.1	37	c.553C>T	CCDS35246.1	.	.	.	.	.	.	.	.	.	.	c	13.24	2.179058	0.38511	.	.	ENSG00000187682	ENST00000338270	T	0.70631	-0.5	4.66	3.8	0.43715	Small GTP-binding protein domain (1);	0.228600	0.22687	N	0.056872	T	0.71022	0.3291	M	0.90198	3.095	0.09310	N	0.999992	P	0.40638	0.725	B	0.32677	0.15	T	0.69450	-0.5142	10	0.87932	D	0	.	9.8114	0.40826	0.0:0.8976:0.0:0.1024	.	185	Q7Z444	RASE_HUMAN	W	185	ENSP00000339136:R185W	ENSP00000339136:R185W	R	+	1	2	ERAS	48573030	0.000000	0.05858	0.228000	0.23943	0.491000	0.33493	-0.369000	0.07533	1.106000	0.41623	0.597000	0.82753	CGG		PASS	0.622	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132402.1	NM_181532		12	6	12	6	---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48858606	48858606	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:48858606C>T	ENST00000376441.1	-	1	69	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R12Q|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.R12Q|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R12Q	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	12						blood microparticle (GO:0072562)|endosome (GO:0005768)		p.R12Q(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CACCTGCATCCGCTGAAACTC	0.652																																						uc004dly.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|kidney(1)	3						c.(34-36)CGG>CAG		GRIP1 associated protein 1 isoform 1							47.0	41.0	43.0					X																	48858606		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48858606C>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.35G>A	X.37:g.48858606C>T	ENSP00000365624:p.Arg12Gln					GRIPAP1_uc004dma.2_Missense_Mutation_p.R12Q	p.R12Q	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			1	70	-			12			Potential.		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.35G>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	c	33	5.250599	0.95305	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.45	4.58	0.56647	.	0.144593	0.47093	D	0.000260	T	0.50837	0.1639	M	0.68952	2.095	0.32748	N	0.506751	D;D	0.89917	0.999;1.0	D;D	0.83275	0.99;0.996	T	0.61192	-0.7112	10	0.31617	T	0.26	-21.649	12.3882	0.55345	0.0:0.8349:0.1651:0.0	.	12;12	Q4V328-2;Q4V328	.;GRAP1_HUMAN	Q	12	ENSP00000365608:R12Q;ENSP00000365627:R12Q;ENSP00000365624:R12Q;ENSP00000365606:R12Q	ENSP00000365606:R12Q	R	-	2	0	GRIPAP1	48743550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.917000	0.69989	1.254000	0.44035	0.540000	0.68198	CGG		PASS	0.652	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		6	28	6	28	---	---	---	---
FOXP3	50943	broad.mit.edu	37	X	49107902	49107902	+	Missense_Mutation	SNP	G	G	A	rs28935477		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:49107902G>A	ENST00000376207.4	-	12	1376	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	FOXP3_ENST00000376199.2_Missense_Mutation_p.R362W|FOXP3_ENST00000518685.1_Missense_Mutation_p.R362W|FOXP3_ENST00000455775.2_Missense_Mutation_p.R370W|FOXP3_ENST00000376197.1_Missense_Mutation_p.R407W|FOXP3_ENST00000557224.1_Missense_Mutation_p.R422W	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	397			R -> W (in IPEX; dbSNP:rs28935477). {ECO:0000269|PubMed:11137992}.		B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R397W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CTCTCCACCCGCACAAAGCAC	0.632																																					GBM(182;1432 2112 16160 23073 31774)	uc004dnf.3																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM010059	FOXP3	M	rs28935477	c.(1189-1191)CGG>TGG		forkhead box P3 isoform a							78.0	56.0	64.0					X																	49107902		2203	4300	6503	SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding	g.chrX:49107902G>A		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.1189C>T	X.37:g.49107902G>A	ENSP00000365380:p.Arg397Trp					FOXP3_uc011mnb.1_Missense_Mutation_p.R420W|FOXP3_uc011mnc.1_Missense_Mutation_p.R370W|FOXP3_uc004dne.3_Missense_Mutation_p.R362W|FOXP3_uc010niq.1_Missense_Mutation_p.R422W	p.R397W	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN			12	1377	-	Ovarian(276;0.236)		397			Fork-head.		A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.1189C>T	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828062	0.71143	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8;-3.8	4.58	1.49	0.22878	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.51477	D	0.000087	D	0.98143	0.9387	H	0.96489	3.83	0.80722	A	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;P	0.91635	0.977;0.989;0.999;0.977;0.87	D	0.99787	1.1030	9	0.87932	D	0	.	11.5661	0.50807	0.0:0.0:0.5415:0.4585	rs28935477	370;420;422;397;362	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	W	397;362;422;362;407;370	ENSP00000365380:R397W;ENSP00000365372:R362W;ENSP00000451208:R422W;ENSP00000428952:R362W;ENSP00000365369:R407W;ENSP00000396415:R370W	ENSP00000365369:R407W	R	-	1	2	FOXP3	48994846	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	3.590000	0.53979	0.210000	0.20664	0.431000	0.28591	CGG		PASS	0.632	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		3	39	3	39	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50052096	50052096	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:50052096C>T	ENST00000376042.1	+	6	1225	c.927C>T	c.(925-927)atC>atT	p.I309I	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.I309I|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	309					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.I309I(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGACAACCATCTGTGGAGCAA	0.423																																						uc004dox.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(925-927)ATC>ATT		cyclin B3 isoform 3							119.0	101.0	107.0					X																	50052096		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50052096C>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.927C>T	X.37:g.50052096C>T						CCNB3_uc004doy.2_Silent_p.I309I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.I309I	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	1225	+	Ovarian(276;0.236)		309					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.927C>T	CCDS14331.1																																																																																				PASS	0.423	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			35	121	35	121	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50054316	50054316	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:50054316G>C	ENST00000376042.1	+	6	3445	c.3147G>C	c.(3145-3147)ttG>ttC	p.L1049F	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.L1049F|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1049					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.L1049F(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAACATTCTTGATCCCCCAAA	0.502																																						uc004dox.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(3145-3147)TTG>TTC		cyclin B3 isoform 3							120.0	99.0	106.0					X																	50054316		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054316G>C	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3147G>C	X.37:g.50054316G>C	ENSP00000365210:p.Leu1049Phe					CCNB3_uc004doy.2_Missense_Mutation_p.L1049F|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.L1049F	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	3445	+	Ovarian(276;0.236)		1049					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.3147G>C	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	9.088	1.000958	0.19121	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.21191	2.02;2.02	2.86	-2.88	0.05682	.	26.780300	0.00166	N	0.000003	T	0.10078	0.0247	N	0.14661	0.345	0.09310	N	1	B	0.24186	0.099	B	0.20955	0.032	T	0.08889	-1.0700	9	.	.	.	.	0.199	0.00143	0.2484:0.1628:0.2391:0.3497	.	1049	Q8WWL7	CCNB3_HUMAN	F	1049	ENSP00000365210:L1049F;ENSP00000276014:L1049F	.	L	+	3	2	CCNB3	50071056	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.127000	0.10547	-0.986000	0.03498	-0.351000	0.07748	TTG		PASS	0.502	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			37	129	37	129	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54275803	54275803	+	Missense_Mutation	SNP	C	C	A	rs549618930		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:54275803C>A	ENST00000375159.2	-	16	2977	c.2978G>T	c.(2977-2979)gGa>gTa	p.G993V	WNK3_ENST00000354646.2_Missense_Mutation_p.G993V|WNK3_ENST00000375169.3_Missense_Mutation_p.G993V			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	993					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G993V(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTTGGTGAGTCCCTCACATTC	0.448																																						uc004dtd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(2977-2979)GGA>GTA		WNK lysine deficient protein kinase 3 isoform 2							198.0	150.0	166.0					X																	54275803		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54275803C>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2978G>T	X.37:g.54275803C>A	ENSP00000364301:p.Gly993Val					WNK3_uc004dtc.1_Missense_Mutation_p.G993V	p.G993V	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			17	3417	-			993					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.2978G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308044	0.23821	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.29142	1.58;1.58;1.58	5.19	3.03	0.35002	.	0.534882	0.16931	N	0.193641	T	0.17365	0.0417	N	0.19112	0.55	0.42902	D	0.994235	B;B	0.20550	0.046;0.003	B;B	0.22601	0.04;0.005	T	0.10245	-1.0638	10	0.66056	D	0.02	-5.9997	3.2054	0.06663	0.0:0.5379:0.274:0.188	.	993;993	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	V	993	ENSP00000364312:G993V;ENSP00000346667:G993V;ENSP00000364301:G993V	ENSP00000346667:G993V	G	-	2	0	WNK3	54292528	0.918000	0.31147	0.994000	0.49952	0.877000	0.50540	0.513000	0.22770	0.908000	0.36671	0.544000	0.68410	GGA		PASS	0.448	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		39	50	39	50	---	---	---	---
TRO	7216	broad.mit.edu	37	X	54955416	54955416	+	Silent	SNP	T	T	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:54955416T>C	ENST00000173898.7	+	12	2371	c.2259T>C	c.(2257-2259)ggT>ggC	p.G753G	TRO_ENST00000375041.2_Silent_p.G356G|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Silent_p.G284G|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	753	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G753G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTTCAGTGGTGGACCTGGCA	0.542																																						uc004dtq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2257-2259)GGT>GGC		trophinin isoform 5							50.0	54.0	52.0					X																	54955416		2111	4218	6329	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955416T>C	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2259T>C	X.37:g.54955416T>C						TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G284G|TRO_uc004dtw.2_Silent_p.G356G|TRO_uc004dtx.2_Silent_p.G136G	p.G753G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	2366	+			753			1.|62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.2259T>C	CCDS43959.1																																																																																				PASS	0.542	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		8	25	8	25	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70601652	70601652	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:70601652G>A	ENST00000373790.4	+	9	1468	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	TAF1_ENST00000276072.3_Missense_Mutation_p.E494K|TAF1_ENST00000449580.1_Missense_Mutation_p.E473K|TAF1_ENST00000423759.1_Missense_Mutation_p.E494K	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	473					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E494Q(1)|p.E473K(1)|p.E494K(1)|p.E473Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATTGACAATGAGGATCTGGT	0.453																																						uc004dzu.3																			4	Substitution - Missense(4)		urinary_tract(2)|lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(1417-1419)GAG>AAG		TBP-associated factor 1 isoform 2							155.0	124.0	135.0					X																	70601652		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70601652G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1417G>A	X.37:g.70601652G>A	ENSP00000362895:p.Glu473Lys					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E494K	p.E473K	NM_138923	NP_620278	P21675	TAF1_HUMAN			9	1468	+	Renal(35;0.156)	all_lung(315;0.000321)	473					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.1417G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	33	5.234231	0.95207	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09163	3.01;3.08;3.06;3.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.31638	0.0803	M	0.73962	2.25	0.80722	D	1	P;P	0.51057	0.902;0.941	P;P	0.59115	0.715;0.852	T	0.01516	-1.1335	10	0.46703	T	0.11	.	18.3612	0.90375	0.0:0.0:1.0:0.0	.	473;494	P21675;P21675-2	TAF1_HUMAN;.	K	473;473;494;494	ENSP00000362895:E473K;ENSP00000389000:E473K;ENSP00000406549:E494K;ENSP00000276072:E494K	ENSP00000276072:E494K	E	+	1	0	TAF1	70518377	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	2.275000	0.75901	0.594000	0.82650	GAG		PASS	0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		7	185	7	185	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73071858	73071858	+	lincRNA	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:73071858C>T	ENST00000429829.1	-	0	730					NR_001564.2				X inactive specific transcript (non-protein coding)																		AAAAAAAAATCAAAGCAGGTA	0.408																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							23.0	24.0	24.0					X																	73071858		876	1991	2867			7503							g.chrX:73071858C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071858C>T								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.731G>A																																																																																					PASS	0.408	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		5	15	5	15	---	---	---	---
ABCB7	22	broad.mit.edu	37	X	74284974	74284974	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:74284974G>A	ENST00000373394.3	-	13	1769	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y	ABCB7_ENST00000253577.3_Missense_Mutation_p.H589Y|ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000339447.4_Missense_Mutation_p.H548Y			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	588	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)	p.H589Y(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ATTGCATCATGAAGTCCAGCT	0.433																																						uc004eca.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1762-1764)CAT>TAT		ATP-binding cassette, sub-family B, member 7							125.0	94.0	105.0					X																	74284974		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74284974G>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1762C>T	X.37:g.74284974G>A	ENSP00000362492:p.His588Tyr					ABCB7_uc004ebz.2_Missense_Mutation_p.H589Y|ABCB7_uc011mqn.1_Missense_Mutation_p.H562Y|ABCB7_uc010nls.2_Missense_Mutation_p.H549Y|ABCB7_uc010nlt.2_Missense_Mutation_p.H548Y	p.H588Y	NM_004299	NP_004290	O75027	ABCB7_HUMAN			13	1787	-			588			ABC transporter.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1762C>T		.	.	.	.	.	.	.	.	.	.	g	26.1	4.701343	0.88924	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.47	5.47	0.80525	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	N	0.25201	0.72	0.80722	D	1	B;D;D;P;D	0.89917	0.394;1.0;1.0;0.595;1.0	B;D;D;P;D	0.87578	0.151;0.99;0.998;0.488;0.993	D	0.93539	0.6876	10	0.87932	D	0	-33.176	17.2853	0.87139	0.0:0.0:1.0:0.0	.	562;548;589;588;589	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	Y	562;589;548;588;562	ENSP00000253577:H589Y;ENSP00000343849:H548Y;ENSP00000362492:H588Y;ENSP00000436586:H562Y	ENSP00000253577:H589Y	H	-	1	0	ABCB7	74201699	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.393000	0.97256	2.294000	0.77228	0.525000	0.51046	CAT		PASS	0.433	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		12	57	12	57	---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75650539	75650539	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:75650539C>T	ENST00000361470.2	+	1	2494	c.2216C>T	c.(2215-2217)tCa>tTa	p.S739L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	739						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.S739L(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCCCCACATTCATGGCCTGAG	0.468																																						uc004ecm.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(2215-2217)TCA>TTA		melanoma antigen family E, 1							77.0	63.0	68.0					X																	75650539		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650539C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2216C>T	X.37:g.75650539C>T	ENSP00000354912:p.Ser739Leu						p.S739L	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	2423	+			739					Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.2216C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	12.20	1.867265	0.32977	.	.	ENSG00000198934	ENST00000361470	T	0.03094	4.05	2.26	2.26	0.28386	.	.	.	.	.	T	0.08223	0.0205	L	0.36672	1.1	0.26141	N	0.980279	D	0.64830	0.994	P	0.62885	0.908	T	0.24905	-1.0147	9	0.54805	T	0.06	.	7.2115	0.25937	0.0:1.0:0.0:0.0	.	739	Q9HCI5	MAGE1_HUMAN	L	739	ENSP00000354912:S739L	ENSP00000354912:S739L	S	+	2	0	MAGEE1	75566943	1.000000	0.71417	0.855000	0.33649	0.996000	0.88848	1.501000	0.35693	1.393000	0.46605	0.544000	0.68410	TCA		PASS	0.468	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		20	57	20	57	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76890178	76890178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:76890178C>T	ENST00000373344.5	-	17	4930	c.4716G>A	c.(4714-4716)tgG>tgA	p.W1572*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.W1534*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1572					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.W1572*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGCAGCAATCCCACATAAACT	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Nonsense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(4714-4716)TGG>TGA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						142.0	140.0	141.0					X																	76890178		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76890178C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4716G>A	X.37:g.76890178C>T	ENSP00000362441:p.Trp1572*					ATRX_uc004ecq.3_Nonsense_Mutation_p.W1534*|ATRX_uc004eco.3_Nonsense_Mutation_p.W1357*	p.W1572*	NM_000489	NP_000480	P46100	ATRX_HUMAN			17	4948	-			1572					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4716G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	47	13.056261	0.99716	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7646	18.913	0.92493	0.0:1.0:0.0:0.0	.	.	.	.	X	1572;1534	.	ENSP00000362441:W1572X	W	-	3	0	ATRX	76776834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.414000	0.81942	0.600000	0.82982	TGG		PASS	0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		48	151	48	151	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77301851	77301851	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:77301851G>C	ENST00000341514.6	+	23	4442	c.4287G>C	c.(4285-4287)aaG>aaC	p.K1429N	ATP7A_ENST00000350425.4_Missense_Mutation_p.K432N|ATP7A_ENST00000343533.5_Missense_Mutation_p.K1351N	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1429					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.K1429N(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TAGGACAGAAGAGTCCTTCAG	0.423																																						uc004ecx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(4285-4287)AAG>AAC		ATPase, Cu++ transporting, alpha polypeptide							156.0	147.0	150.0					X																	77301851		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77301851G>C	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4287G>C	X.37:g.77301851G>C	ENSP00000345728:p.Lys1429Asn						p.K1429N	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			23	4447	+			1429			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4287G>C	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241262	0.39598	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	T;T;T	0.69806	-0.43;-0.43;-0.43	4.97	4.03	0.46877	.	0.431594	0.27080	N	0.021036	T	0.52741	0.1753	L	0.33485	1.01	0.36478	D	0.867694	P	0.36465	0.554	B	0.37780	0.258	T	0.53479	-0.8433	10	0.24483	T	0.36	-3.3362	8.6118	0.33806	0.1315:0.0:0.8685:0.0	.	1429	Q04656	ATP7A_HUMAN	N	1351;432;1429	ENSP00000343026:K1351N;ENSP00000343678:K432N;ENSP00000345728:K1429N	ENSP00000345728:K1429N	K	+	3	2	ATP7A	77188507	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.681000	0.46926	0.750000	0.32877	0.513000	0.50165	AAG		PASS	0.423	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		163	151	163	151	---	---	---	---
LPAR4	2846	broad.mit.edu	37	X	78010547	78010547	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:78010547C>G	ENST00000435339.3	+	2	567	c.181C>G	c.(181-183)Ctg>Gtg	p.L61V		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	61					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.L61V(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CAGTGTCTCTCTGTTTGTCTT	0.373																																						uc010nme.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(181-183)CTG>GTG		lysophosphatidic acid receptor 4							335.0	269.0	291.0					X																	78010547		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010547C>G	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.181C>G	X.37:g.78010547C>G	ENSP00000408205:p.Leu61Val						p.L61V	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	586	+			61			Helical; Name=1; (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.181C>G	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219603	0.58560	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.72835	-0.69;-0.69	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.68613	0.3020	L	0.39898	1.24	0.53688	D	0.999974	P	0.49635	0.926	P	0.49561	0.615	T	0.68988	-0.5264	10	0.37606	T	0.19	.	14.3091	0.66403	0.0:1.0:0.0:0.0	.	61	Q99677	LPAR4_HUMAN	V	61	ENSP00000408205:L61V;ENSP00000362398:L61V	ENSP00000362398:L61V	L	+	1	2	LPAR4	77897203	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	3.540000	0.53611	1.920000	0.55613	0.422000	0.28245	CTG		PASS	0.373	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		99	264	99	264	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79279607	79279607	+	Silent	SNP	A	A	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:79279607A>T	ENST00000373294.5	+	3	430	c.402A>T	c.(400-402)ccA>ccT	p.P134P	TBX22_ENST00000373291.1_Silent_p.P14P|TBX22_ENST00000442340.1_Silent_p.P14P|TBX22_ENST00000373296.3_Silent_p.P134P	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	134					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P134P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGTTGGATCCAGGGAAGCAGT	0.507																																						uc010nmg.1																			1	Substitution - coding silent(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(400-402)CCA>CCT		T-box 22 isoform 1							181.0	141.0	155.0					X																	79279607		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79279607A>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.402A>T	X.37:g.79279607A>T						TBX22_uc004edi.1_Silent_p.P14P|TBX22_uc004edj.1_Silent_p.P134P	p.P134P	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			4	536	+			134			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.402A>T	CCDS14445.1																																																																																				PASS	0.507	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		30	38	30	38	---	---	---	---
MORC4	79710	broad.mit.edu	37	X	106228351	106228351	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:106228351G>A	ENST00000355610.4	-	5	923	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	MORC4_ENST00000255495.7_Missense_Mutation_p.R217C|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	217						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R40C(1)|p.R217C(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ATGAGAACACGAGTGCCTTTT	0.393																																						uc004emu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(649-651)CGT>TGT		zinc finger, CW type with coiled-coil domain 2							101.0	95.0	97.0					X																	106228351		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106228351G>A	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.649C>T	X.37:g.106228351G>A	ENSP00000347821:p.Arg217Cys					MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.R217C|MORC4_uc004emw.3_Intron	p.R217C	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			5	892	-			217					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.649C>T	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800356	0.70567	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	T;T	0.74842	-0.88;-0.88	4.67	4.67	0.58626	ATPase-like, ATP-binding domain (2);	0.066154	0.64402	D	0.000018	D	0.86703	0.5996	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	D	0.88791	0.3278	10	0.87932	D	0	-7.3425	12.4992	0.55946	0.0:0.0:1.0:0.0	.	217;217	A1YR23;Q8TE76	.;MORC4_HUMAN	C	217	ENSP00000347821:R217C;ENSP00000255495:R217C	ENSP00000255495:R217C	R	-	1	0	MORC4	106115007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.762000	0.47597	2.245000	0.73994	0.529000	0.55759	CGT		PASS	0.393	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		43	115	43	115	---	---	---	---
PIH1D3	139212	broad.mit.edu	37	X	106466060	106466060	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:106466060A>G	ENST00000372453.3	+	5	480	c.418A>G	c.(418-420)Agt>Ggt	p.S140G	PIH1D3_ENST00000535523.1_Missense_Mutation_p.S140G|PIH1D3_ENST00000336387.4_Missense_Mutation_p.S140G	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	140								p.S140G(1)									AGGTTGTTGCAGTGAACTAGT	0.358																																						uc004enc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)AGT>GGT		hypothetical protein LOC139212							120.0	113.0	115.0					X																	106466060		2203	4300	6503	SO:0001583	missense	139212							g.chrX:106466060A>G	AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"""sarcoma antigen NY-SAR-97"""		"""chromosome X open reading frame 41"""	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.418A>G	X.37:g.106466060A>G	ENSP00000361531:p.Ser140Gly					CXorf41_uc004end.2_Missense_Mutation_p.S140G	p.S140G	NM_173494	NP_775765	Q9NQM4	CX041_HUMAN			5	480	+			140					D3DUX5|Q86WE1	Missense_Mutation	SNP	ENST00000372453.3	37	c.418A>G	CCDS14528.1	.	.	.	.	.	.	.	.	.	.	A	5.640	0.302677	0.10678	.	.	ENSG00000080572	ENST00000372453;ENST00000535523;ENST00000336387	T;T;T	0.30714	1.52;1.52;1.52	5.07	0.706	0.18133	.	0.369545	0.27289	N	0.020042	T	0.13329	0.0323	N	0.08118	0	0.19945	N	0.99994	B	0.21309	0.054	B	0.19666	0.026	T	0.15549	-1.0433	10	0.62326	D	0.03	1.1783	5.0764	0.14634	0.2432:0.3617:0.3951:0.0	.	140	Q9NQM4	CX041_HUMAN	G	140	ENSP00000361531:S140G;ENSP00000441930:S140G;ENSP00000337757:S140G	ENSP00000337757:S140G	S	+	1	0	CXorf41	106352716	1.000000	0.71417	0.027000	0.17364	0.005000	0.04900	2.164000	0.42387	-0.374000	0.07967	-0.377000	0.06932	AGT		PASS	0.358	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057832.1	NM_173494		37	89	37	89	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107403859	107403859	+	Silent	SNP	G	G	A	rs139555294	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:107403859G>A	ENST00000372216.4	-	43	4462	c.4362C>T	c.(4360-4362)ttC>ttT	p.F1454F	COL4A6_ENST00000394872.2_Silent_p.F1454F|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000538570.1_Silent_p.F1396F|COL4A6_ENST00000545689.1_Silent_p.F1429F|COL4A6_ENST00000334504.7_Silent_p.F1453F	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1454	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.F1453F(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGGCATCCCGAAGGGGCCTT	0.562									Alport syndrome with Diffuse Leiomyomatosis				G|||	1	0.000264901	0.0008	0.0	3775	,	,		15791	0.0		0.0	False		,,,				2504	0.0				Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(4360-4362)TTC>TTT		type IV alpha 6 collagen isoform A precursor		G	,	6,3829		0,6,1626,571	78.0	70.0	73.0		4362,4359	-3.8	0.0	X	dbSNP_134	73	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	COL4A6	NM_001847.2,NM_033641.2	,	0,6,4054,2443	AA,AG,GG,G		0.0,0.1565,0.0568	,	1454/1692,1453/1691	107403859	6,10557	2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107403859G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4362C>T	X.37:g.107403859G>A						COL4A6_uc004env.3_Silent_p.F1453F|COL4A6_uc011msn.1_Silent_p.F1429F|COL4A6_uc010npk.2_Silent_p.F1396F|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_Intron	p.F1454F	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			43	4465	-			1454			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.4362C>T	CCDS14541.1																																																																																				PASS	0.562	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			6	117	6	117	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111195371	111195371	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:111195371C>G	ENST00000262839.2	-	2	1196	c.278G>C	c.(277-279)aGc>aCc	p.S93T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	93					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S93T(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACATACACGCTGTGGTTCAG	0.557																																						uc004epl.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(277-279)AGC>ACC		transient receptor potential cation channel,							165.0	138.0	147.0					X																	111195371		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111195371C>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.278G>C	X.37:g.111195371C>G	ENSP00000262839:p.Ser93Thr					TRPC5_uc004epm.1_Missense_Mutation_p.S93T	p.S93T	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			2	1197	-			93			ANK 2.|Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.278G>C	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496728	0.44352	.	.	ENSG00000072315	ENST00000262839	T	0.53640	0.61	5.51	5.51	0.81932	Ankyrin repeat-containing domain (3);	0.134289	0.64402	D	0.000002	T	0.35624	0.0938	L	0.35341	1.055	0.25202	N	0.990049	B;B	0.22211	0.066;0.04	B;B	0.25759	0.063;0.063	T	0.18335	-1.0340	10	0.15066	T	0.55	-13.9013	11.9414	0.52903	0.0:0.9183:0.0:0.0817	.	94;93	Q59G51;Q9UL62	.;TRPC5_HUMAN	T	93	ENSP00000262839:S93T	ENSP00000262839:S93T	S	-	2	0	TRPC5	111082027	0.952000	0.32445	0.973000	0.42090	0.924000	0.55760	1.933000	0.40153	2.300000	0.77407	0.513000	0.50165	AGC		PASS	0.557	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		81	93	81	93	---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118143099	118143099	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:118143099C>G	ENST00000371628.3	+	7	1572	c.1541C>G	c.(1540-1542)tCa>tGa	p.S514*	LONRF3_ENST00000422289.2_Nonsense_Mutation_p.S258*|LONRF3_ENST00000304778.7_Nonsense_Mutation_p.S473*|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	514							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.S473*(2)|p.S514*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGCTTGGCATCAAGAAAATAC	0.383																																						uc004eqw.2																			4	Substitution - Nonsense(4)		cervix(2)|lung(2)	breast(1)|central_nervous_system(1)	2						c.(1540-1542)TCA>TGA		LON peptidase N-terminal domain and ring finger							94.0	85.0	88.0					X																	118143099		2203	4300	6503	SO:0001587	stop_gained	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118143099C>G	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1541C>G	X.37:g.118143099C>G	ENSP00000360690:p.Ser514*					LONRF3_uc004eqx.2_Nonsense_Mutation_p.S473*|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Nonsense_Mutation_p.S258*	p.S514*	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			7	1572	+			514					Q5JPN6|Q8NB00|Q9H647	Nonsense_Mutation	SNP	ENST00000371628.3	37	c.1541C>G	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.336922|7.336922	0.98221|0.98221	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000439603|ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289	.|.	.|.	.|.	6.08|6.08	4.09|4.09	0.47781|0.47781	.|.	.|0.476626	.|0.21720	.|N	.|0.070122	T|.	0.18759|.	0.0450|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21008|.	-1.0258|.	3|.	.|0.07644	.|T	.|0.81	-51.3869|-51.3869	4.29|4.29	0.10874|0.10874	0.0:0.5399:0.0:0.4601|0.0:0.5399:0.0:0.4601	.|.	.|.	.|.	.|.	M|X	279|473;473;514;258	.|.	.|ENSP00000307732:S473X	I|S	+|+	3|2	3|0	LONRF3|LONRF3	118027127|118027127	0.135000|0.135000	0.22499|0.22499	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.671000|0.671000	0.25172|0.25172	1.304000|1.304000	0.44892|0.44892	0.600000|0.600000	0.82982|0.82982	ATC|TCA		PASS	0.383	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		26	85	26	85	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	124029949	124029949	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:124029949G>C	ENST00000371130.3	-	2	422	c.359C>G	c.(358-360)gCa>gGa	p.A120G	TENM1_ENST00000422452.2_Missense_Mutation_p.A120G	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	120	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A120G(1)									CATTCTTAGTGCATGGTCAGG	0.498																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(358-360)GCA>GGA		odz, odd Oz/ten-m homolog 1 isoform 3							279.0	227.0	245.0					X																	124029949		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:124029949G>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.359C>G	X.37:g.124029949G>C	ENSP00000360171:p.Ala120Gly					ODZ1_uc011muj.1_Missense_Mutation_p.A120G|ODZ1_uc010nqy.2_Missense_Mutation_p.A120G	p.A120G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			2	423	-			120			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.359C>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519753	0.64634	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.37411	1.2;1.2	5.56	5.56	0.83823	Teneurin intracellular, N-terminal (2);	0.079325	0.50627	D	0.000101	T	0.29256	0.0728	N	0.20685	0.6	0.48040	D	0.999579	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.15052	0.012;0.012;0.012	T	0.03969	-1.0988	10	0.49607	T	0.09	.	18.7885	0.91964	0.0:0.0:1.0:0.0	.	120;120;120	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	120	ENSP00000360171:A120G;ENSP00000403954:A120G	ENSP00000360171:A120G	A	-	2	0	ODZ1	123857630	1.000000	0.71417	0.965000	0.40720	0.885000	0.51271	4.618000	0.61211	2.469000	0.83416	0.600000	0.82982	GCA		PASS	0.498	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		82	243	82	243	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128692883	128692883	+	Silent	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:128692883C>G	ENST00000371113.4	+	8	792	c.627C>G	c.(625-627)ctC>ctG	p.L209L	OCRL_ENST00000357121.5_Silent_p.L209L|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	209					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.L209L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGCGGAAGCTCTTTGTACCAA	0.428																																						uc004euq.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(625-627)CTC>CTG		phosphatidylinositol polyphosphate 5-phosphatase							116.0	111.0	113.0					X																	128692883		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128692883C>G	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.627C>G	X.37:g.128692883C>G						OCRL_uc004eur.2_Silent_p.L209L	p.L209L	NM_000276	NP_000267	Q01968	OCRL_HUMAN			8	792	+			209					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.627C>G	CCDS35393.1																																																																																				PASS	0.428	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		10	120	10	120	---	---	---	---
MAGEC2	51438	broad.mit.edu	37	X	141291553	141291553	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:141291553C>A	ENST00000247452.3	-	3	568	c.221G>T	c.(220-222)gGt>gTt	p.G74V		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	74					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.G74V(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTATCACACCAGAGGGCAC	0.527										HNSCC(46;0.14)																												uc004fbu.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(220-222)GGT>GTT		melanoma antigen family C, 2							74.0	69.0	71.0					X																	141291553		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291553C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.221G>T	X.37:g.141291553C>A	ENSP00000354660:p.Gly74Val	HNSCC(46;0.14)					p.G74V	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	569	-	Acute lymphoblastic leukemia(192;6.56e-05)		74					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.221G>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	0.068	-1.208774	0.01568	.	.	ENSG00000046774	ENST00000247452	T	0.04234	3.67	0.896	-1.79	0.07932	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.02119	0.0066	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44298	-0.9337	8	0.52906	T	0.07	.	.	.	.	.	74	Q9UBF1	MAGC2_HUMAN	V	74	ENSP00000354660:G74V	ENSP00000354660:G74V	G	-	2	0	MAGEC2	141119219	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.228000	0.00139	-2.216000	0.00732	-2.045000	0.00415	GGT		PASS	0.527	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		51	25	51	25	---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147018994	147018994	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:147018994C>T	ENST00000370475.4	+	11	1128	c.1000C>T	c.(1000-1002)Cca>Tca	p.P334S	FMR1_ENST00000440235.2_Missense_Mutation_p.P2S|FMR1_ENST00000370471.3_Missense_Mutation_p.P334S|FMR1_ENST00000439526.2_Missense_Mutation_p.P332S|FMR1_ENST00000218200.8_Missense_Mutation_p.P334S|FMR1_ENST00000370470.1_Missense_Mutation_p.P334S|FMR1_ENST00000370477.1_Missense_Mutation_p.P334S	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	334					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P334S(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAATTATGCCACCAAATTC	0.313									Fragile X syndrome																													uc010nst.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1000-1002)CCA>TCA		fragile X mental retardation 1							69.0	71.0	71.0					X																	147018994		2202	4296	6498	SO:0001583	missense	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147018994C>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1000C>T	X.37:g.147018994C>T	ENSP00000359506:p.Pro334Ser					FMR1_uc004fcj.2_Missense_Mutation_p.P332S|FMR1_uc004fck.3_Missense_Mutation_p.P334S|FMR1_uc004fcl.3_Missense_Mutation_p.P195S|FMR1_uc011mxa.1_Missense_Mutation_p.P2S	p.P334S	NM_002024	NP_002015	Q06787	FMR1_HUMAN			11	1189	+	Acute lymphoblastic leukemia(192;6.56e-05)		334					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1000C>T	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161716	0.38119	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T;T	0.56776	1.27;0.44;1.28;1.29;1.28;1.31;0.71	5.26	2.43	0.29744	K Homology (1);	0.355643	0.24750	N	0.035913	T	0.59783	0.2219	L	0.56199	1.76	0.27259	N	0.958677	D;P;P;P;B	0.71674	0.998;0.574;0.815;0.578;0.0	D;B;B;B;B	0.80764	0.994;0.134;0.396;0.281;0.003	T	0.50825	-0.8782	10	0.21014	T	0.42	-18.0088	6.6368	0.22887	0.0:0.5607:0.3409:0.0984	.	2;334;250;334;332	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	S	334;334;334;334;332;334;2	ENSP00000218200:P334S;ENSP00000359502:P334S;ENSP00000359508:P334S;ENSP00000359506:P334S;ENSP00000395923:P332S;ENSP00000359501:P334S;ENSP00000413764:P2S	ENSP00000218200:P334S	P	+	1	0	FMR1	146826686	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	1.338000	0.33873	0.139000	0.18822	0.506000	0.49869	CCA		PASS	0.313	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		4	141	4	141	---	---	---	---
OPN1LW	5956	broad.mit.edu	37	X	153416362	153416362	+	Missense_Mutation	SNP	C	C	G	rs1065422		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:153416362C>G	ENST00000369951.4	+	2	407	c.347C>G	c.(346-348)tCt>tGt	p.S116C	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	116			S -> Y (in dbSNP:rs1065422).		phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.S116C(2)		endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACCAGGTCTCTGGCTACTTC	0.617																																						uc004fjz.3																			2	Substitution - Missense(2)		lung(2)		0						c.(346-348)TCT>TGT		opsin 1 (cone pigments), long-wave-sensitive							117.0	121.0	120.0					X																	153416362		2197	4258	6455	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153416362C>G	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.347C>G	X.37:g.153416362C>G	ENSP00000358967:p.Ser116Cys						p.S116C	NM_020061	NP_064445	P04000	OPSR_HUMAN			2	380	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		116			Extracellular.			Missense_Mutation	SNP	ENST00000369951.4	37	c.347C>G	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469351	0.26423	.	.	ENSG00000102076	ENST00000369951	T	0.39056	1.1	4.05	-0.0912	0.13661	GPCR, rhodopsin-like superfamily (1);	0.172929	0.49916	D	0.000126	T	0.39064	0.1064	L	0.38953	1.18	0.21527	N	0.99966	D	0.54772	0.968	P	0.54856	0.762	T	0.27905	-1.0060	10	0.59425	D	0.04	.	5.8269	0.18558	0.5834:0.1425:0.0:0.2741	.	116	P04000	OPSR_HUMAN	C	116	ENSP00000358967:S116C	ENSP00000358967:S116C	S	+	2	0	OPN1LW	153069556	0.000000	0.05858	0.525000	0.27900	0.256000	0.26092	-1.053000	0.03500	-0.345000	0.08325	-2.015000	0.00435	TCT		PASS	0.617	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		30	107	30	107	---	---	---	---
OPN1LW	5956	broad.mit.edu	37	X	153416372	153416372	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:153416372C>G	ENST00000369951.4	+	2	417	c.357C>G	c.(355-357)ttC>ttG	p.F119L	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	119					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.F119L(2)		endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCTACTTCGTGCTGGGCC	0.607																																						uc004fjz.3																			2	Substitution - Missense(2)		lung(2)		0						c.(355-357)TTC>TTG		opsin 1 (cone pigments), long-wave-sensitive							106.0	112.0	110.0					X																	153416372		2197	4257	6454	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153416372C>G	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.357C>G	X.37:g.153416372C>G	ENSP00000358967:p.Phe119Leu						p.F119L	NM_020061	NP_064445	P04000	OPSR_HUMAN			2	390	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		119			Extracellular.			Missense_Mutation	SNP	ENST00000369951.4	37	c.357C>G	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238459	0.39598	.	.	ENSG00000102076	ENST00000369951	T	0.71579	-0.58	4.05	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	M	0.93594	3.435	0.53005	D	0.999968	P	0.37441	0.595	B	0.42138	0.377	T	0.75972	-0.3129	10	0.87932	D	0	.	8.0329	0.30476	0.0:0.7495:0.0:0.2505	.	119	P04000	OPSR_HUMAN	L	119	ENSP00000358967:F119L	ENSP00000358967:F119L	F	+	3	2	OPN1LW	153069566	0.895000	0.30542	0.995000	0.50966	0.682000	0.39822	0.043000	0.13971	0.031000	0.15407	0.384000	0.25694	TTC		PASS	0.607	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		27	104	27	104	---	---	---	---
F8	2157	broad.mit.edu	37	X	154159454	154159454	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:154159454C>G	ENST00000360256.4	-	14	2811	c.2611G>C	c.(2611-2613)Gag>Cag	p.E871Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	871	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.E871Q(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGGCCTGACTCAGGGGTAAAT	0.423																																						uc004fmt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2611-2613)GAG>CAG		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						70.0	62.0	65.0					X																	154159454		2203	4298	6501	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154159454C>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2611G>C	X.37:g.154159454C>G	ENSP00000353393:p.Glu871Gln						p.E871Q	NM_000132	NP_000123	P00451	FA8_HUMAN			14	2782	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		871			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.2611G>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	1.085	-0.665743	0.03428	.	.	ENSG00000185010	ENST00000360256	D	0.99121	-5.45	5.05	1.06	0.20224	.	1.529720	0.03739	N	0.254727	D	0.97312	0.9121	L	0.53249	1.67	0.09310	N	1	B	0.21381	0.055	B	0.15052	0.012	D	0.91388	0.5133	10	0.41790	T	0.15	-3.5106	4.6936	0.12793	0.0:0.5342:0.1621:0.3037	.	871	P00451	FA8_HUMAN	Q	871	ENSP00000353393:E871Q	ENSP00000353393:E871Q	E	-	1	0	F8	153812648	0.086000	0.21541	0.006000	0.13384	0.104000	0.19210	0.078000	0.14761	0.105000	0.17753	0.544000	0.68410	GAG		PASS	0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			35	76	35	76	---	---	---	---
MTCP1	4515	broad.mit.edu	37	X	154294059	154294059	+	Silent	SNP	C	C	T			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chrX:154294059C>T	ENST00000369476.3	-	3	690	c.111G>A	c.(109-111)acG>acA	p.T37T	MTCP1_ENST00000362018.2_Silent_p.T37T|CMC4_ENST00000369479.1_5'Flank|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000482244.1_5'UTR	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	37					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)		p.T37T(2)		large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTAGGAAACTCGTCTCCTAAT	0.423			T	TRA@	T cell prolymphocytic leukemia																																	uc004fmz.2				Dom	yes		X	Xq28	4515	T	mature T-cell proliferation 1			L	TRA@		T cell prolymphocytic leukemia		2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(109-111)ACG>ACA		mature T-cell proliferation 1							75.0	70.0	72.0					X																	154294059		1939	4119	6058	SO:0001819	synonymous_variant	4515				cell proliferation			g.chrX:154294059C>T		CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.111G>A	X.37:g.154294059C>T						MTCP1NB_uc004fmy.2_Intron	p.T37T	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN			3	737	-	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		37					Q5HYP2	Silent	SNP	ENST00000369476.3	37	c.111G>A	CCDS44027.1																																																																																				PASS	0.423	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025		62	47	62	47	---	---	---	---
SLC4A7	9497	broad.mit.edu	37	3	27424683	27424683	+	Frame_Shift_Del	DEL	C	C	-	rs368963217		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr3:27424683delC	ENST00000295736.5	-	24	3594	c.3524delG	c.(3523-3525)ggafs	p.G1175fs	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000388777.4_Frame_Shift_Del_p.G725fs|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.G1184fs|SLC4A7_ENST00000455077.1_Frame_Shift_Del_p.G1056fs|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.G1167fs|SLC4A7_ENST00000437179.1_Frame_Shift_Del_p.G1056fs|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.G1171fs|SLC4A7_ENST00000435667.2_Frame_Shift_Del_p.G1060fs|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.G1171fs|SLC4A7_ENST00000428386.1_Frame_Shift_Del_p.G1051fs	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1175					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CAAGAGACTTCCCCCTTCAAA	0.363																																						uc003cdv.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3523-3525)GGAfs		solute carrier family 4, sodium bicarbonate							120.0	114.0	116.0					3																	27424683		2203	4300	6503	SO:0001589	frameshift_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27424683delC	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3524delG	3.37:g.27424683delC	ENSP00000295736:p.Gly1175fs					SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Frame_Shift_Del_p.G1056fs|SLC4A7_uc011aww.1_Frame_Shift_Del_p.G1184fs|SLC4A7_uc011awx.1_Frame_Shift_Del_p.G1171fs|SLC4A7_uc011awy.1_Frame_Shift_Del_p.G1167fs|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Frame_Shift_Del_p.G1056fs|SLC4A7_uc011axb.1_Frame_Shift_Del_p.G1171fs|SLC4A7_uc010hfl.2_Frame_Shift_Del_p.G725fs|SLC4A7_uc003cdw.2_Frame_Shift_Del_p.G1051fs	p.G1175fs	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			24	3595	-			1175			Cytoplasmic (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Frame_Shift_Del	DEL	ENST00000295736.5	37	c.3524delG	CCDS33721.1																																																																																					0.363	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		128	68	128	68	---	---	---	---
PPP1R26	9858	broad.mit.edu	37	9	138376850	138376850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr9:138376850delC	ENST00000356818.2	+	4	1043	c.494delC	c.(493-495)gccfs	p.A166fs	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.A166fs|PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.A166fs|PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.A166fs|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.A166fs	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	166					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCTTCCAGGGCCGCAGGCGGA	0.672																																						uc004cfr.1																			0				ovary(2)|central_nervous_system(1)	3						c.(493-495)GCCfs		1A6/DRIM (down-regulated in metastasis)							16.0	21.0	19.0					9																	138376850		2195	4279	6474	SO:0001589	frameshift_variant	9858					nucleolus	protein binding	g.chr9:138376850delC	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.494delC	9.37:g.138376850delC	ENSP00000349274:p.Ala166fs						p.A165fs	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	1043	+			165					Q86WU0|Q8WVV0|Q9Y4D3	Frame_Shift_Del	DEL	ENST00000356818.2	37	c.494delC	CCDS6988.1																																																																																					0.672	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		37	35	37	35	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1265952	1265952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:1265952delG	ENST00000529681.1	+	31	7900	c.7842delG	c.(7840-7842)acgfs	p.T2614fs	MUC5B_ENST00000447027.1_Frame_Shift_Del_p.T2617fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2614	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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)				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)		CCACAACCACGGGCTTCACAG	0.647																																						uc009ycr.1																			0					0						c.(9754-9756)ACGfs		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							140.0	172.0	161.0					11																	1265952		2102	4216	6318	SO:0001589	frameshift_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265952delG	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.7842delG	11.37:g.1265952delG	ENSP00000436812:p.Thr2614fs					MUC5B_uc001ltb.2_Frame_Shift_Del_p.T2617fs	p.T3252fs	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)	48	9882	+		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)	2614	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	ENST00000529681.1	37	c.9756delG	CCDS44515.2																																																																																					0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		59	39	59	39	---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967535	4967535	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:4967535delC	ENST00000380373.2	-	1	821	c.796delG	c.(796-798)gccfs	p.A266fs	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACATGCCGGGCAAAGCGGTGG	0.453																																						uc010qys.1																			0				ovary(2)|skin(1)	3						c.(796-798)GCCfs		olfactory receptor, family 51, subfamily A,							174.0	165.0	168.0					11																	4967535		2200	4298	6498	SO:0001589	frameshift_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967535delC	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.796delG	11.37:g.4967535delC	ENSP00000369731:p.Ala266fs						p.A266fs	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	796	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	266			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000380373.2	37	c.796delG	CCDS31367.1																																																																																					0.453	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		91	48	91	48	---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310156	124310156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr11:124310156delG	ENST00000328064.2	-	1	898	c.826delC	c.(826-828)ctafs	p.L276fs		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	276					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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)		GTATAGAATAGGGAAGACACC	0.418																																						uc010sal.1																			0				ovary(1)	1						c.(826-828)CTAfs		olfactory receptor, family 8, subfamily B,							94.0	85.0	88.0					11																	124310156		2201	4299	6500	SO:0001589	frameshift_variant	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310156delG	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.826delC	11.37:g.124310156delG	ENSP00000330280:p.Leu276fs						p.L276fs	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	826	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	276			Helical; Name=7; (Potential).		A1L446|Q96RC8	Frame_Shift_Del	DEL	ENST00000328064.2	37	c.826delC	CCDS8446.1																																																																																					0.418	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		100	58	100	58	---	---	---	---
Unknown	0	broad.mit.edu	37	13	19420047	19420053	+	IGR	DEL	TTCGTAT	TTCGTAT	-	rs9506853|rs377510750	byFrequency	TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:19420047_19420053delTTCGTAT								LINC00418 (126178 upstream) : RP11-38M15.11 (13913 downstream)																							ATAACATTTCTTCGTATTTTATATTTT	0.246																																						uc010tcj.1																			0					0								Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA.																																				SO:0001628	intergenic_variant	284232							g.chr13:19420047_19420053delTTCGTAT																													13.37:g.19420047_19420053delTTCGTAT								NR_027995						1		-									RNA	DEL		37	c.26057_26063delATACGAA																																																																																				0		0.246									4	2	4	2	---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96237022	96237022	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr13:96237022delC	ENST00000376829.2	-	22	3343	c.2492delG	c.(2491-2493)ggcfs	p.G831fs	DZIP1_ENST00000347108.3_Frame_Shift_Del_p.G831fs|DZIP1_ENST00000361396.2_Frame_Shift_Del_p.G812fs|DZIP1_ENST00000361156.3_Frame_Shift_Del_p.G812fs	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	831					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATTAAATGCGCCCCAGGCATT	0.413																																						uc001vmk.2																			0				ovary(2)	2						c.(2491-2493)GGCfs		DAZ interacting protein 1 isoform 2							114.0	119.0	117.0					13																	96237022		2203	4300	6503	SO:0001589	frameshift_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96237022delC	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2492delG	13.37:g.96237022delC	ENSP00000366025:p.Gly831fs					DZIP1_uc001vmi.2_Frame_Shift_Del_p.G79fs|DZIP1_uc001vmj.2_Frame_Shift_Del_p.G307fs|DZIP1_uc001vml.2_Frame_Shift_Del_p.G812fs|DZIP1_uc001vmm.2_5'Flank	p.G831fs	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		22	3344	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		831					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Frame_Shift_Del	DEL	ENST00000376829.2	37	c.2492delG	CCDS9478.1																																																																																					0.413	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		156	103	156	103	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61574285	61574287	+	In_Frame_Del	DEL	GGA	GGA	-	rs138240046		TCGA-66-2785-01A-01D-1522-08	TCGA-66-2785-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	57debe39-f57d-400a-a860-3de357d6bec1	9f36f553-8a12-4eb2-85e9-61c56d1c56e3	g.chr17:61574285_61574287delGGA	ENST00000290866.4	+	24	3654_3656	c.3630_3632delGGA	c.(3628-3633)acggag>acg	p.E1211del	ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_In_Frame_Del_p.E416del|ACE_ENST00000490216.2_In_Frame_Del_p.E637del|ACE_ENST00000577647.1_In_Frame_Del_p.E637del|ACE_ENST00000290863.6_In_Frame_Del_p.E637del|ACE_ENST00000413513.3_In_Frame_Del_p.E596del	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1211	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	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 membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGCTCCGCACGGAGAACGAGCTG	0.655																																						uc002jau.1																			0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(3628-3633)ACGGAG>ACG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)																																			SO:0001651	inframe_deletion	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61574285_61574287delGGA	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3630_3632delGGA	17.37:g.61574285_61574287delGGA	ENSP00000290866:p.Glu1211del					ACE_uc002jav.1_In_Frame_Del_p.E637del|ACE_uc010ddv.1_In_Frame_Del_p.E438del|ACE_uc010wpj.1_In_Frame_Del_p.E596del|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_In_Frame_Del_p.E416del	p.E1211del	NM_000789	NP_000780	P12821	ACE_HUMAN			24	3652_3654	+			1211			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	In_Frame_Del	DEL	ENST00000290866.4	37	c.3630_3632delGGA	CCDS11637.1																																																																																					0.655	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			32	18	32	18	---	---	---	---
