#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
ZNF683	257101	broad.mit.edu	37	1	26688385	26688385	+	Silent	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:26688385G>A	ENST00000436292.1	-	7	1452	c.1332C>T	c.(1330-1332)caC>caT	p.H444H	ZNF683_ENST00000349618.3_Silent_p.H424H|ZNF683_ENST00000403843.1_Silent_p.H444H|ZNF683_ENST00000374204.1_Silent_p.H424H			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	444					natural killer cell differentiation (GO:0001779)|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.H429H(1)|p.H424H(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCAGCCGATGGTGCAGCTTCA	0.667																																						uc001bmg.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1330-1332)CAC>CAT		zinc finger protein 683							50.0	51.0	51.0					1																	26688385		2203	4299	6502	SO:0001819	synonymous_variant	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26688385G>A	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1332C>T	1.37:g.26688385G>A						ZNF683_uc001bmh.1_Silent_p.H424H|ZNF683_uc009vsj.1_Silent_p.H424H	p.H444H	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	7	1450	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	444			C2H2-type 4.		Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Silent	SNP	ENST00000436292.1	37	c.1332C>T																																																																																					PASS	0.667	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		13	21	13	21	---	---	---	---
SFN	2810	broad.mit.edu	37	1	27190282	27190282	+	Silent	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:27190282G>A	ENST00000339276.4	+	1	650	c.579G>A	c.(577-579)ctG>ctA	p.L193L		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.L193L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CCATCTCTCTGGCCAAGACCA	0.607																																						uc001bnc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(577-579)CTG>CTA		stratifin							109.0	102.0	104.0					1																	27190282		2203	4300	6503	SO:0001819	synonymous_variant	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190282G>A	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.579G>A	1.37:g.27190282G>A						uc010ofi.1_RNA	p.L193L	NM_006142	NP_006133	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	650	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	193					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	ENST00000339276.4	37	c.579G>A	CCDS288.1																																																																																				PASS	0.607	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		7	66	7	66	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144879369	144879369	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:144879369G>T	ENST00000369354.3	-	27	4270	c.4081C>A	c.(4081-4083)Ctg>Atg	p.L1361M	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L1497M|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1317M|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1361M|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L1497M|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1361					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.L1361M(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGGCCTTCAGATCTTTGATG	0.488			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4081-4083)CTG>ATG		phosphodiesterase 4D interacting protein isoform							173.0	195.0	187.0					1																	144879369		2203	4299	6502	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879369G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4081C>A	1.37:g.144879369G>T	ENSP00000358360:p.Leu1361Met					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1317M|PDE4DIP_uc001elv.3_Missense_Mutation_p.L368M	p.L1361M	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	4372	-			1361			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4081C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512553	0.85389	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.16324	2.35;2.44;2.38;2.5;2.52	5.6	5.6	0.85130	.	.	.	.	.	T	0.34048	0.0884	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.04029	-1.0983	9	0.72032	D	0.01	.	17.1898	0.86876	0.0:0.0:1.0:0.0	.	1317;1361	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	M	1317;1361;1361;1497;1497	ENSP00000327209:L1317M;ENSP00000358360:L1361M;ENSP00000358363:L1361M;ENSP00000435654:L1497M;ENSP00000358366:L1497M	ENSP00000327209:L1317M	L	-	1	2	PDE4DIP	143590726	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.780000	0.68956	2.659000	0.90383	0.650000	0.86243	CTG		PASS	0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		19	124	19	124	---	---	---	---
ANKRD34A	284615	broad.mit.edu	37	1	145473602	145473602	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:145473602G>T	ENST00000323397.4	+	4	1567	c.274G>T	c.(274-276)Gcg>Tcg	p.A92S	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	92						cytoplasm (GO:0005737)		p.A92S(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGGGCGCCGCGGTGGCCTC	0.716																																						uc001enq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)GCG>TCG		ankyrin repeat domain 34							30.0	34.0	33.0					1																	145473602		2196	4295	6491	SO:0001583	missense	284615							g.chr1:145473602G>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.274G>T	1.37:g.145473602G>T	ENSP00000314103:p.Ala92Ser					NBPF10_uc001emp.3_Intron	p.A92S	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	1567	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		92			ANK 3.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.274G>T	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797876	0.90538	.	.	ENSG00000181039	ENST00000323397	T	0.64803	-0.12	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.331369	0.31092	N	0.008266	T	0.37404	0.1002	N	0.04043	-0.29	0.50313	D	0.999861	P	0.44044	0.825	P	0.46172	0.506	T	0.54675	-0.8258	10	0.72032	D	0.01	-13.28	16.1197	0.81342	0.0:0.0:1.0:0.0	.	92	Q69YU3	AN34A_HUMAN	S	92	ENSP00000314103:A92S	ENSP00000314103:A92S	A	+	1	0	ANKRD34A	144184959	0.997000	0.39634	0.999000	0.59377	0.991000	0.79684	6.178000	0.71968	2.658000	0.90341	0.491000	0.48974	GCG		PASS	0.716	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			11	43	11	43	---	---	---	---
PBX1	5087	broad.mit.edu	37	1	164761954	164761954	+	Silent	SNP	G	G	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:164761954G>C	ENST00000420696.2	+	3	677	c.489G>C	c.(487-489)acG>acC	p.T163T	PBX1_ENST00000401534.1_Silent_p.T163T|PBX1_ENST00000560641.1_Silent_p.T58T|PBX1_ENST00000367897.1_Silent_p.T163T|PBX1_ENST00000540246.1_Silent_p.T58T|PBX1_ENST00000559240.1_Silent_p.T163T|PBX1_ENST00000540236.1_Silent_p.T163T	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	163					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T163T(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCTACCATACGGAGCTGGAGA	0.577			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	uc001gct.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(3)|lung(1)|skin(1)	5						c.(487-489)ACG>ACC		pre-B-cell leukemia homeobox 1							26.0	31.0	29.0					1																	164761954		2200	4300	6500	SO:0001819	synonymous_variant	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164761954G>C	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.489G>C	1.37:g.164761954G>C						PBX1_uc010pku.1_Silent_p.T163T|PBX1_uc010pkv.1_Silent_p.T80T|PBX1_uc001gcs.2_Silent_p.T163T|PBX1_uc010pkw.1_Silent_p.T53T	p.T163T	NM_002585	NP_002576	P40424	PBX1_HUMAN			3	747	+			163					B4DSC1|F5H4U9|Q5T488	Silent	SNP	ENST00000420696.2	37	c.489G>C	CCDS1246.1																																																																																				PASS	0.577	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		8	33	8	33	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179561770	179561770	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:179561770T>C	ENST00000367614.1	+	2	379	c.20T>C	c.(19-21)aTa>aCa	p.I7T	TDRD5_ENST00000444136.1_Missense_Mutation_p.I7T|TDRD5_ENST00000294848.8_Missense_Mutation_p.I7T|RP11-545A16.4_ENST00000567150.1_RNA	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	7	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.I7T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAAGAGCGTATACAGGAATGT	0.448																																						uc001gnf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(19-21)ATA>ACA		tudor domain containing 5							146.0	139.0	142.0					1																	179561770		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179561770T>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.20T>C	1.37:g.179561770T>C	ENSP00000356586:p.Ile7Thr					TDRD5_uc010pnp.1_Missense_Mutation_p.I7T|uc010pno.1_5'Flank	p.I7T	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			2	270	+			7					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.20T>C	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.103651	0.56291	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.14144	2.53;2.53;2.7	5.91	5.91	0.95273	.	0.195275	0.43747	D	0.000539	T	0.18087	0.0434	L	0.56769	1.78	0.40633	D	0.981875	P;P	0.36465	0.554;0.549	B;B	0.36719	0.231;0.185	T	0.01557	-1.1325	10	0.46703	T	0.11	0.4938	15.1724	0.72884	0.0:0.0:0.0:1.0	.	7;7	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	T	7	ENSP00000356586:I7T;ENSP00000294848:I7T;ENSP00000406052:I7T	ENSP00000294848:I7T	I	+	2	0	TDRD5	177828393	0.732000	0.28121	0.894000	0.35097	0.887000	0.51463	5.696000	0.68287	2.254000	0.74563	0.533000	0.62120	ATA		PASS	0.448	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		42	127	42	127	---	---	---	---
LAD1	3898	broad.mit.edu	37	1	201353941	201353941	+	Missense_Mutation	SNP	G	G	A	rs138044157	byFrequency	TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:201353941G>A	ENST00000391967.2	-	5	1455	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	LAD1_ENST00000488842.1_5'Flank|LAD1_ENST00000367313.3_Missense_Mutation_p.S399L	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	385						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)	p.S385L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGTTGTTTCCGAGTTTTCTTT	0.542													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18235	0.0		0.0	False		,,,				2504	0.0					uc001gwm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1153-1155)TCG>TTG		ladinin 1		G	LEU/SER	4,4402	8.1+/-20.4	0,4,2199	124.0	123.0	123.0		1154	3.1	0.0	1	dbSNP_134	123	0,8600		0,0,4300	yes	missense	LAD1	NM_005558.3	145	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	385/518	201353941	4,13002	2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201353941G>A	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1154C>T	1.37:g.201353941G>A	ENSP00000375829:p.Ser385Leu					LAD1_uc009wzu.1_Missense_Mutation_p.S407L	p.S385L	NM_005558	NP_005549	O00515	LAD1_HUMAN			5	1389	-			385					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.1154C>T	CCDS1410.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.018	0.371749	0.11409	9.08E-4	0.0	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	T;T;T	0.48201	0.82;2.59;2.58	4.99	3.13	0.36017	.	1.817880	0.02414	N	0.081983	T	0.36413	0.0966	L	0.31926	0.97	0.09310	N	1	B;B	0.30211	0.273;0.116	B;B	0.17722	0.019;0.011	T	0.18429	-1.0337	10	0.21014	T	0.42	0.3524	7.5194	0.27618	0.196:0.0:0.804:0.0	.	399;385	E9PDI4;O00515	.;LAD1_HUMAN	L	36;385;399	ENSP00000422687:S36L;ENSP00000375829:S385L;ENSP00000356282:S399L	ENSP00000356282:S399L	S	-	2	0	LAD1	199620564	0.114000	0.22134	0.002000	0.10522	0.011000	0.07611	1.452000	0.35156	0.510000	0.28216	0.561000	0.74099	TCG		PASS	0.542	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		7	185	7	185	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216011348	216011348	+	Missense_Mutation	SNP	C	C	A	rs199885325		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:216011348C>A	ENST00000307340.3	-	47	9742	c.9356G>T	c.(9355-9357)cGt>cTt	p.R3119L	USH2A_ENST00000366943.2_Missense_Mutation_p.R3119L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3119	Fibronectin type-III 18. {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.R3119L(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)		AGTGATGCCACGAATTGTGGG	0.393										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.(9355-9357)CGT>CTT		usherin isoform B							224.0	202.0	209.0					1																	216011348		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.chr1:216011348C>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.9356G>T	1.37:g.216011348C>A	ENSP00000305941:p.Arg3119Leu	HNSCC(13;0.011)					p.R3119L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	47	9743	-			3119			Extracellular (Potential).|Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9356G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	5.092	0.202664	0.09652	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52057	0.68;0.68	5.01	-3.27	0.05048	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.301359	0.23330	N	0.049349	T	0.32010	0.0815	L	0.40543	1.245	0.09310	N	1	B	0.25007	0.116	B	0.23716	0.048	T	0.17319	-1.0373	10	0.23302	T	0.38	.	11.2828	0.49206	0.0:0.4535:0.0:0.5465	.	3119	O75445	USH2A_HUMAN	L	3119	ENSP00000305941:R3119L;ENSP00000355910:R3119L	ENSP00000305941:R3119L	R	-	2	0	USH2A	214077971	0.106000	0.21978	0.000000	0.03702	0.034000	0.12701	0.360000	0.20250	-1.015000	0.03375	-0.302000	0.09304	CGT		PASS	0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		22	27	22	27	---	---	---	---
ZBTB18	10472	broad.mit.edu	37	1	244218490	244218490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:244218490G>T	ENST00000358704.4	+	2	1563	c.1414G>T	c.(1414-1416)Gag>Tag	p.E472*		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	463					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E463*(1)									GCACACCCGCGAGAAGCCGCA	0.612																																						uc001iae.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(1387-1389)GAG>TAG		zinc finger protein 238 isoform 2							53.0	54.0	54.0					1																	244218490		2203	4300	6503	SO:0001587	stop_gained	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244218490G>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1414G>T	1.37:g.244218490G>T	ENSP00000351539:p.Glu472*					ZNF238_uc001iad.3_Nonsense_Mutation_p.E472*|ZNF238_uc001iaf.1_3'UTR	p.E463*	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	1909	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		463					A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Nonsense_Mutation	SNP	ENST00000358704.4	37	c.1387G>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	38	6.742679	0.97805	.	.	ENSG00000179456	ENST00000358704	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	.	.	.	X	472	.	ENSP00000351539:E472X	E	+	1	0	ZNF238	242285113	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.869000	0.99810	2.749000	0.94314	0.655000	0.94253	GAG		PASS	0.612	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		19	73	19	73	---	---	---	---
VN1R5	317705	broad.mit.edu	37	1	247420223	247420223	+	IGR	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:247420223G>T								RP11-488L18.8 (15098 upstream) : Y_RNA (37913 downstream)																							ATACTGGGTGGACTTTACGTT	0.493																																						uc010pyu.1																			0					0						c.(850-852)GAC>TAC		vomeronasal 1 receptor 5							191.0	184.0	186.0					1																	247420223		1952	4151	6103	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247420223G>T																													1.37:g.247420223G>T							p.D284Y	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	850	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	284			Helical; Name=6; (Potential).			Missense_Mutation	SNP		37	c.850G>T																																																																																				0	PASS	0.493									14	158	14	158	---	---	---	---
SLC3A1	6519	broad.mit.edu	37	2	44507894	44507894	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr2:44507894T>C	ENST00000260649.6	+	2	546	c.470T>C	c.(469-471)aTa>aCa	p.I157T	SLC3A1_ENST00000409741.1_Missense_Mutation_p.I157T|SLC3A1_ENST00000409229.3_Missense_Mutation_p.I157T|SLC3A1_ENST00000409387.1_Missense_Mutation_p.I157T|SLC3A1_ENST00000410056.3_Missense_Mutation_p.I157T	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	157					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.I157T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GCTTTAAATATAAAAACTGTT	0.313																																						uc002ruc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)ATA>ACA		solute carrier family 3, member 1	L-Cystine(DB00138)						45.0	46.0	46.0					2																	44507894		2203	4299	6502	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44507894T>C		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.470T>C	2.37:g.44507894T>C	ENSP00000260649:p.Ile157Thr					SLC3A1_uc002rty.2_Missense_Mutation_p.I157T|SLC3A1_uc002rtz.2_Missense_Mutation_p.I157T|SLC3A1_uc002rua.2_Missense_Mutation_p.I157T|SLC3A1_uc002rub.2_Missense_Mutation_p.I157T	p.I157T	NM_000341	NP_000332	Q07837	SLC31_HUMAN			2	548	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	157			Extracellular (Potential).		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.470T>C	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.356476	0.41700	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99656	-6.31;-6.31;-4.95;-6.31;-6.31	4.84	3.68	0.42216	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.229381	0.43416	D	0.000568	D	0.99477	0.9814	M	0.92169	3.28	0.80722	D	1	B;P;D;P;P	0.56968	0.37;0.599;0.978;0.833;0.739	B;B;P;P;P	0.54210	0.332;0.357;0.745;0.661;0.486	D	0.98619	1.0666	10	0.87932	D	0	-3.67	10.5706	0.45198	0.0:0.0765:0.0:0.9235	.	157;157;157;157;157	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	T	157;157;93;157;157;157;157	ENSP00000260649:I157T;ENSP00000387308:I157T;ENSP00000387337:I157T;ENSP00000386954:I157T;ENSP00000386620:I157T	ENSP00000260649:I157T	I	+	2	0	SLC3A1	44361398	1.000000	0.71417	0.989000	0.46669	0.684000	0.39900	5.772000	0.68889	0.798000	0.33994	-0.256000	0.11100	ATA		PASS	0.313	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		10	18	10	18	---	---	---	---
GCFC2	6936	broad.mit.edu	37	2	75919142	75919142	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr2:75919142C>T	ENST00000321027.3	-	7	1238	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	GCFC2_ENST00000409857.3_Missense_Mutation_p.E331K|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	369					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)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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)	p.E369K(1)									TGTTTTAATTCATCTTGCCTG	0.299																																						uc002sno.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1105-1107)GAA>AAA		hypothetical protein LOC6936							183.0	164.0	171.0					2																	75919142		2202	4299	6501	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75919142C>T	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1105G>A	2.37:g.75919142C>T	ENSP00000318690:p.Glu369Lys					C2orf3_uc010ffs.2_Intron|C2orf3_uc002snn.2_Missense_Mutation_p.E200K|C2orf3_uc010fft.2_Missense_Mutation_p.E44K	p.E369K	NM_003203	NP_003194	P16383	GCF_HUMAN			7	1235	-			369					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.1105G>A	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110708	0.94292	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.14516	2.5;2.51	4.64	4.64	0.57946	.	0.311718	0.37261	N	0.002163	T	0.30696	0.0773	M	0.66939	2.045	0.80722	D	1	D	0.61080	0.989	P	0.57776	0.827	T	0.01725	-1.1287	10	0.49607	T	0.09	-14.1153	15.7945	0.78398	0.0:1.0:0.0:0.0	.	369	P16383	GCF_HUMAN	K	369;331	ENSP00000318690:E369K;ENSP00000386552:E331K	ENSP00000318690:E369K	E	-	1	0	C2orf3	75772650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.965000	0.70387	2.499000	0.84300	0.585000	0.79938	GAA		PASS	0.299	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		4	3	4	3	---	---	---	---
UGT1A7	54577	broad.mit.edu	37	2	234591377	234591377	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr2:234591377T>A	ENST00000373426.3	+	1	794	c.794T>A	c.(793-795)gTg>gAg	p.V265E	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	265					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.V265E(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CCCAAACCCGTGATGCCCAAT	0.433																																						uc002vut.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(793-795)GTG>GAG		UDP glycosyltransferase 1 family, polypeptide A7							161.0	160.0	160.0					2																	234591377		2203	4300	6503	SO:0001583	missense	54577				drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding	g.chr2:234591377T>A	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.794T>A	2.37:g.234591377T>A	ENSP00000362525:p.Val265Glu					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.V265E	p.V265E	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	794	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	265					B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.794T>A	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.24|12.24	1.879586|1.879586	0.33162|0.33162	.|.	.|.	ENSG00000244122|ENSG00000244122	ENST00000373426|ENST00000485022	T|.	0.61980|.	0.06|.	3.92|3.92	3.92|3.92	0.45320|0.45320	.|.	.|.	.|.	.|.	.|.	T|.	0.72301|.	0.3443|.	M|M	0.90082|0.90082	3.085|3.085	0.29070|0.29070	N|N	0.88336|0.88336	D;D|.	0.64830|.	0.994;0.994|.	D;D|.	0.71656|.	0.974;0.974|.	T|.	0.70828|.	-0.4766|.	9|.	0.62326|.	D|.	0.03|.	.|.	12.9679|12.9679	0.58494|0.58494	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	265;265|.	Q5DSZ7;Q9HAW7|.	.;UD17_HUMAN|.	E|R	265|122	ENSP00000362525:V265E|.	ENSP00000362525:V265E|.	V|X	+|+	2|1	0|0	UGT1A7|UGT1A7	234256116|234256116	0.942000|0.942000	0.31987|0.31987	0.866000|0.866000	0.34008|0.34008	0.057000|0.057000	0.15508|0.15508	2.392000|2.392000	0.44433|0.44433	1.657000|1.657000	0.50732|0.50732	0.397000|0.397000	0.26171|0.26171	GTG|TGA		PASS	0.433	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		31	66	31	66	---	---	---	---
METTL6	131965	broad.mit.edu	37	3	15466468	15466468	+	Nonsense_Mutation	SNP	A	A	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:15466468A>T	ENST00000443029.1	-	3	594	c.354T>A	c.(352-354)taT>taA	p.Y118*	EAF1_ENST00000396842.2_5'Flank|METTL6_ENST00000383790.3_Nonsense_Mutation_p.Y118*|EAF1_ENST00000432764.2_5'Flank|METTL6_ENST00000450816.2_Intron|METTL6_ENST00000383789.5_Nonsense_Mutation_p.Y118*			Q8TCB7	METL6_HUMAN	methyltransferase like 6	118							methyltransferase activity (GO:0008168)	p.Y118*(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CAACCTTAACATATTCAATGG	0.393																																						uc003bzs.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(352-354)TAT>TAA		methyltransferase like 6							105.0	96.0	99.0					3																	15466468		1879	4111	5990	SO:0001587	stop_gained	131965						methyltransferase activity	g.chr3:15466468A>T	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.354T>A	3.37:g.15466468A>T	ENSP00000407613:p.Tyr118*					METTL6_uc011avp.1_Intron|METTL6_uc003bzt.1_Nonsense_Mutation_p.Y118*	p.Y118*	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN			3	612	-			118					Q96LU4	Nonsense_Mutation	SNP	ENST00000443029.1	37	c.354T>A	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	A	35	5.484773	0.96323	.	.	ENSG00000206562	ENST00000383790;ENST00000453819;ENST00000383789	.	.	.	5.74	1.82	0.25136	.	0.213966	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-9.9233	8.3134	0.32084	0.7289:0.0:0.2711:0.0	.	.	.	.	X	118;25;118	.	ENSP00000373299:Y118X	Y	-	3	2	METTL6	15441472	1.000000	0.71417	0.990000	0.47175	0.195000	0.23768	2.091000	0.41691	0.060000	0.16281	0.460000	0.39030	TAT		PASS	0.393	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396		29	18	29	18	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49691576	49691576	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:49691576G>T	ENST00000296452.4	+	5	4701	c.4587G>T	c.(4585-4587)atG>atT	p.M1529I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1529					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.M1529I(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CATCACCTATGGTAGCCCAGG	0.612																																						uc003cxe.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(4585-4587)ATG>ATT		bassoon protein							83.0	93.0	89.0					3																	49691576		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691576G>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4587G>T	3.37:g.49691576G>T	ENSP00000296452:p.Met1529Ile						p.M1529I	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4701	+			1529					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4587G>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849324	0.32699	.	.	ENSG00000164061	ENST00000296452	T	0.17213	2.29	5.25	5.25	0.73442	.	0.104331	0.64402	D	0.000003	T	0.20414	0.0491	L	0.54323	1.7	0.35456	D	0.796107	B	0.24483	0.104	B	0.22386	0.039	T	0.12578	-1.0542	10	0.24483	T	0.36	.	18.8314	0.92141	0.0:0.0:1.0:0.0	.	1529	Q9UPA5	BSN_HUMAN	I	1529	ENSP00000296452:M1529I	ENSP00000296452:M1529I	M	+	3	0	BSN	49666580	1.000000	0.71417	0.999000	0.59377	0.878000	0.50629	1.760000	0.38430	2.466000	0.83321	0.462000	0.41574	ATG		PASS	0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		42	32	42	32	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77651403	77651403	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:77651403C>T	ENST00000461745.1	+	20	3797	c.2897C>T	c.(2896-2898)aCg>aTg	p.T966M	ROBO2_ENST00000332191.8_Missense_Mutation_p.T966M|ROBO2_ENST00000487694.3_Missense_Mutation_p.T982M	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	966					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.T982M(1)|p.T966M(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)		AAAACAGCAACGATGCTCTCA	0.458																																						uc003dpy.3																			2	Substitution - Missense(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(2896-2898)ACG>ATG		roundabout, axon guidance receptor, homolog 2							111.0	108.0	109.0					3																	77651403		1997	4177	6174	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77651403C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2897C>T	3.37:g.77651403C>T	ENSP00000417164:p.Thr966Met					ROBO2_uc003dpz.2_Missense_Mutation_p.T970M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T970M|ROBO2_uc003dqa.2_Missense_Mutation_p.T93M	p.T966M	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)	20	3540	+			966			Cytoplasmic (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2897C>T	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.136017|4.136017	0.77662|0.77662	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.|T;T;T	.|0.62232	.|0.04;0.07;0.07	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.47455	.|D	.|0.000240	.|T	.|0.77538	.|0.4145	M|M	0.61703|0.61703	1.905|1.905	.|.	.|.	.|.	.|D;D;D	.|0.76494	.|0.999;0.986;0.999	.|D;P;P	.|0.65987	.|0.94;0.685;0.861	.|T	.|0.76971	.|-0.2761	.|9	.|0.56958	.|D	.|0.05	.|.	20.1236|20.1236	0.97970|0.97970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|982;966;966	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	X|M	123|982;982;986;966;966	.|ENSP00000417335:T982M;ENSP00000417164:T966M;ENSP00000327536:T966M	.|ENSP00000327536:T966M	R|T	+|+	1|2	2|0	ROBO2|ROBO2	77734093|77734093	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.765000|2.765000	0.95021|0.95021	0.555000|0.555000	0.69702|0.69702	CGA|ACG		PASS	0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		8	50	8	50	---	---	---	---
ZXDC	79364	broad.mit.edu	37	3	126180727	126180727	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:126180727T>C	ENST00000389709.3	-	6	1831	c.1778A>G	c.(1777-1779)cAg>cGg	p.Q593R	ZXDC_ENST00000336332.5_Missense_Mutation_p.Q593R	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	593	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q593R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GAAGCTGCCCTGCTGCAGAAC	0.602																																						uc003eiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1777-1779)CAG>CGG		ZXD family zinc finger C isoform 1							75.0	81.0	79.0					3																	126180727		2162	4271	6433	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126180727T>C	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1778A>G	3.37:g.126180727T>C	ENSP00000374359:p.Gln593Arg					ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.Q593R	p.Q593R	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	1832	-			593			Required for transcriptional activation.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.1778A>G	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930373	0.34096	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.08282	3.11;3.11	4.99	2.65	0.31530	.	0.186878	0.47093	D	0.000241	T	0.11623	0.0283	L	0.61218	1.895	0.38497	D	0.948125	P;P	0.40476	0.718;0.596	B;B	0.41332	0.354;0.203	T	0.04723	-1.0931	10	0.59425	D	0.04	-2.7342	10.5544	0.45107	0.0:0.0:0.3315:0.6684	.	593;593	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	R	593	ENSP00000374359:Q593R;ENSP00000337694:Q593R	ENSP00000337694:Q593R	Q	-	2	0	ZXDC	127663417	1.000000	0.71417	0.825000	0.32803	0.341000	0.28922	3.311000	0.51919	0.355000	0.24131	0.482000	0.46254	CAG		PASS	0.602	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		44	38	44	38	---	---	---	---
SERPINI1	5274	broad.mit.edu	37	3	167510549	167510549	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:167510549A>G	ENST00000295777.5	+	4	1084	c.653A>G	c.(652-654)tAt>tGt	p.Y218C	SERPINI1_ENST00000446050.2_Missense_Mutation_p.Y218C	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	218					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y218C(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CCAATGATGTATCAGCAAGGA	0.328																																						uc003ffa.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(652-654)TAT>TGT		neuroserpin precursor							98.0	107.0	104.0					3																	167510549		2203	4300	6503	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167510549A>G	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.653A>G	3.37:g.167510549A>G	ENSP00000295777:p.Tyr218Cys					SERPINI1_uc003ffb.3_Missense_Mutation_p.Y218C	p.Y218C	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			4	851	+			218					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.653A>G	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678507	0.68042	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000472747	T;T;T	0.75477	-0.94;-0.94;-0.94	5.68	5.68	0.88126	Serpin domain (3);	0.109455	0.64402	D	0.000004	D	0.86997	0.6068	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87858	0.2662	10	0.49607	T	0.09	.	15.9242	0.79603	1.0:0.0:0.0:0.0	.	218	Q99574	NEUS_HUMAN	C	218	ENSP00000397373:Y218C;ENSP00000295777:Y218C;ENSP00000420561:Y218C	ENSP00000295777:Y218C	Y	+	2	0	SERPINI1	168993243	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	8.959000	0.93110	2.160000	0.67779	0.383000	0.25322	TAT		PASS	0.328	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			7	38	7	38	---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179301162	179301162	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:179301162G>A	ENST00000429709.2	+	12	1261	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	RP11-145M9.6_ENST00000610007.1_RNA|ACTL6A_ENST00000450518.2_Missense_Mutation_p.V308M|ACTL6A_ENST00000392662.1_Missense_Mutation_p.V308M|RP11-15L13.4_ENST00000608818.1_RNA	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	350					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)	p.V350M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CAGTGTAATAGTGGCAGGAGG	0.343																																						uc003fjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1048-1050)GTG>ATG		actin-like 6A isoform 1							117.0	139.0	131.0					3																	179301162		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179301162G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.1048G>A	3.37:g.179301162G>A	ENSP00000397552:p.Val350Met					ACTL6A_uc003fjx.2_Missense_Mutation_p.V308M|ACTL6A_uc003fjy.2_Missense_Mutation_p.V308M	p.V350M	NM_004301	NP_004292	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		12	1221	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		350					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.1048G>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879919	0.91740	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.96459	-4.02;-4.02;-4.02	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97012	0.9024	L	0.38531	1.155	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	D	0.97483	1.0048	10	0.72032	D	0.01	.	20.1225	0.97967	0.0:0.0:1.0:0.0	.	350	O96019	ACL6A_HUMAN	M	350;308;308	ENSP00000397552:V350M;ENSP00000394014:V308M;ENSP00000376430:V308M	ENSP00000376430:V308M	V	+	1	0	ACTL6A	180783856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.382000	0.97209	2.831000	0.97527	0.650000	0.86243	GTG		PASS	0.343	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		10	22	10	22	---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87622769	87622769	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:87622769C>G	ENST00000411767.2	+	7	1073	c.1010C>G	c.(1009-1011)cCt>cGt	p.P337R	PTPN13_ENST00000436978.1_Missense_Mutation_p.P337R|PTPN13_ENST00000316707.6_Missense_Mutation_p.P337R|PTPN13_ENST00000511467.1_Missense_Mutation_p.P337R|PTPN13_ENST00000427191.2_Missense_Mutation_p.P337R			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	337					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.P337R(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAACTACTCCTAGAAAAAAG	0.463																																						uc003hpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(1009-1011)CCT>CGT		protein tyrosine phosphatase, non-receptor type							91.0	87.0	88.0					4																	87622769		1930	4118	6048	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87622769C>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1010C>G	4.37:g.87622769C>G	ENSP00000407249:p.Pro337Arg					PTPN13_uc003hpy.2_Missense_Mutation_p.P337R|PTPN13_uc003hqa.2_Missense_Mutation_p.P337R|PTPN13_uc003hqb.2_Missense_Mutation_p.P337R	p.P337R	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1490	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	337					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.1010C>G	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226222	0.79576	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	6.02	6.02	0.97574	.	0.268731	0.26594	N	0.023501	T	0.50752	0.1634	M	0.62723	1.935	0.34766	D	0.733263	D;B;B;B	0.60575	0.988;0.168;0.105;0.168	P;B;B;B	0.56216	0.794;0.046;0.03;0.067	T	0.59021	-0.7532	10	0.72032	D	0.01	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	337;337;337;337	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	R	337;337;337;337;337;305	ENSP00000408368:P337R;ENSP00000394794:P337R;ENSP00000322675:P337R;ENSP00000407249:P337R;ENSP00000426626:P337R	ENSP00000322675:P337R	P	+	2	0	PTPN13	87841793	0.995000	0.38212	0.839000	0.33178	0.986000	0.74619	5.359000	0.66074	2.857000	0.98124	0.650000	0.86243	CCT		PASS	0.463	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			20	43	20	43	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123160881	123160881	+	Silent	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:123160881T>C	ENST00000264501.4	+	29	4417	c.4044T>C	c.(4042-4044)agT>agC	p.S1348S	KIAA1109_ENST00000388738.3_Silent_p.S1348S|KIAA1109_ENST00000455637.1_Silent_p.S1348S|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1348					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.S1348S(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						TCTCTCGAAGTGATGAGAATG	0.433																																						uc003ieh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(4042-4044)AGT>AGC		fragile site-associated protein							112.0	107.0	109.0					4																	123160881		1964	4143	6107	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123160881T>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.4044T>C	4.37:g.123160881T>C						KIAA1109_uc003iei.1_Silent_p.S1101S|KIAA1109_uc010ins.1_Silent_p.S691S|KIAA1109_uc003iek.2_5'UTR	p.S1348S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			27	4089	+			1348					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.4044T>C	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	7.780	0.709401	0.15239	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4877	0.44733	0.0:0.114:0.0:0.886	.	.	.	.	R	1180	.	.	X	+	1	0	KIAA1109	123380331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.921000	0.48852	2.293000	0.77203	0.528000	0.53228	TGA		PASS	0.433	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		11	14	11	14	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126373089	126373089	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:126373089G>A	ENST00000394329.3	+	9	10931	c.10918G>A	c.(10918-10920)Gat>Aat	p.D3640N	FAT4_ENST00000335110.5_Missense_Mutation_p.D1938N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3640					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.D3640N(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						GAAGCCACAGGATCCAGATGT	0.463																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(10918-10920)GAT>AAT		FAT tumor suppressor homolog 4 precursor							82.0	84.0	83.0					4																	126373089		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373089G>A	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.10918G>A	4.37:g.126373089G>A	ENSP00000377862:p.Asp3640Asn					FAT4_uc011cgp.1_Missense_Mutation_p.D1938N|FAT4_uc003ifi.1_Missense_Mutation_p.D1118N	p.D3640N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	10918	+			3640			Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10918G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015656	0.93404	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.33654	1.4;1.4	5.91	5.91	0.95273	.	0.000000	0.35040	U	0.003483	T	0.62208	0.2409	M	0.69358	2.11	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	0.62191	-0.6906	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1938;3640;3640	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	3640;1938	ENSP00000377862:D3640N;ENSP00000335169:D1938N	ENSP00000335169:D1938N	D	+	1	0	FAT4	126592539	1.000000	0.71417	0.999000	0.59377	0.808000	0.45660	9.666000	0.98612	2.793000	0.96121	0.655000	0.94253	GAT		PASS	0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		10	24	10	24	---	---	---	---
PRIMPOL	201973	broad.mit.edu	37	4	185580549	185580549	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:185580549T>G	ENST00000314970.6	+	4	669	c.236T>G	c.(235-237)cTt>cGt	p.L79R	PRIMPOL_ENST00000512834.1_Missense_Mutation_p.L79R|PRIMPOL_ENST00000515774.1_5'UTR|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.L79R	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	79					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)	p.L79R(1)									CGTATTTACCTTGTGACAACC	0.368																																						uc003iwk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(235-237)CTT>CGT		coiled-coil domain containing 111							217.0	203.0	208.0					4																	185580549		2203	4300	6503	SO:0001583	missense	201973				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185580549T>G	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.236T>G	4.37:g.185580549T>G	ENSP00000313816:p.Leu79Arg					CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Missense_Mutation_p.L79R|CCDC111_uc003iwl.2_Missense_Mutation_p.L79R|CCDC111_uc003iwm.2_5'UTR|CCDC111_uc003iwn.2_5'UTR	p.L79R	NM_152683	NP_689896	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	4	669	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	79					D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	c.236T>G	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.674879	0.67928	.	.	ENSG00000164306	ENST00000314970;ENST00000503752;ENST00000512834	T;T;T	0.43688	0.94;0.94;0.94	5.49	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	M	0.85197	2.74	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69953	-0.5005	10	0.87932	D	0	-30.3177	11.1367	0.48378	0.0:0.0726:0.0:0.9274	.	79;79	Q96LW4;D6RDM1	CC111_HUMAN;.	R	79	ENSP00000313816:L79R;ENSP00000420860:L79R;ENSP00000425316:L79R	ENSP00000313816:L79R	L	+	2	0	CCDC111	185817543	1.000000	0.71417	0.966000	0.40874	0.831000	0.47069	6.167000	0.71902	0.924000	0.37069	0.363000	0.22086	CTT		PASS	0.368	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		14	24	14	24	---	---	---	---
TRIML1	339976	broad.mit.edu	37	4	189065213	189065213	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:189065213G>T	ENST00000332517.3	+	5	922	c.782G>T	c.(781-783)tGt>tTt	p.C261F	TRIML1_ENST00000507581.1_3'UTR|RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	261					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.C261F(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TTGCTTCAGTGTCCAGAGGCC	0.547																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(781-783)TGT>TTT		tripartite motif family-like 1							59.0	61.0	60.0					4																	189065213		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189065213G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.782G>T	4.37:g.189065213G>T	ENSP00000327738:p.Cys261Phe					TRIML1_uc003izn.1_5'UTR	p.C261F	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	5	897	+		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	261					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.782G>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	0.150	-1.092001	0.01858	.	.	ENSG00000184108	ENST00000332517	T	0.04603	3.59	5.29	1.57	0.23409	.	0.472717	0.20257	N	0.095942	T	0.05777	0.0151	L	0.61387	1.9	0.28246	N	0.925499	P	0.37864	0.61	B	0.38712	0.28	T	0.26815	-1.0092	10	0.10111	T	0.7	-2.2791	8.9014	0.35497	0.0805:0.4323:0.4871:0.0	.	261	Q8N9V2	TRIML_HUMAN	F	261	ENSP00000327738:C261F	ENSP00000327738:C261F	C	+	2	0	TRIML1	189302207	0.995000	0.38212	0.998000	0.56505	0.170000	0.22686	0.846000	0.27682	0.149000	0.19098	-0.184000	0.12912	TGT		PASS	0.547	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		21	26	21	26	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	480068	480068	+	Missense_Mutation	SNP	G	G	T	rs369450763		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr5:480068G>T	ENST00000264938.3	-	10	1539	c.1530C>A	c.(1528-1530)ttC>ttA	p.F510L	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.F501L|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	510					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.F510L(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACTTCCTGTCGAAGTGGGACC	0.617																																						uc003jbe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1528-1530)TTC>TTA		solute carrier family 9 (sodium/hydrogen							94.0	97.0	96.0					5																	480068		2203	4300	6503	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:480068G>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1530C>A	5.37:g.480068G>T	ENSP00000264938:p.Phe510Leu					SLC9A3_uc011clx.1_Missense_Mutation_p.F501L|uc011cly.1_RNA	p.F510L	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		10	1642	-			510			Cytoplasmic (Potential).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1530C>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205892	0.58234	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.61859	0.63;0.07	4.97	-0.311	0.12761	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.83603	2.65	0.39301	D	0.964914	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.984	T	0.75286	-0.3371	10	0.87932	D	0	.	11.6081	0.51043	0.7788:0.0:0.2212:0.0	.	501;510	E9PF67;P48764	.;SL9A3_HUMAN	L	510;501	ENSP00000264938:F510L;ENSP00000422983:F501L	ENSP00000264938:F510L	F	-	3	2	SLC9A3	533068	0.971000	0.33674	0.992000	0.48379	0.730000	0.41778	0.128000	0.15810	-0.331000	0.08501	-0.140000	0.14226	TTC		PASS	0.617	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		16	102	16	102	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7706958	7706958	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr5:7706958A>G	ENST00000338316.4	+	8	1300	c.1211A>G	c.(1210-1212)gAt>gGt	p.D404G	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.D224G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	404					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.D404G(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						TGGCAATATGATGTGTGGTCA	0.512																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1210-1212)GAT>GGT		adenylate cyclase 2							230.0	201.0	211.0					5																	7706958		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7706958A>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1211A>G	5.37:g.7706958A>G	ENSP00000342952:p.Asp404Gly					ADCY2_uc011cmo.1_Missense_Mutation_p.D224G	p.D404G	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			8	1278	+			404			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1211A>G	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	A	27.8	4.867592	0.91587	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.85484	-1.99;-1.99	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.94814	0.8325	H	0.96398	3.815	0.51482	D	0.999922	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96403	0.9298	10	0.87932	D	0	.	15.2605	0.73617	1.0:0.0:0.0:0.0	.	224;404	B7Z2C1;Q08462	.;ADCY2_HUMAN	G	404;255;224	ENSP00000342952:D404G;ENSP00000444803:D224G	ENSP00000342952:D404G	D	+	2	0	ADCY2	7759958	1.000000	0.71417	0.726000	0.30738	0.988000	0.76386	9.076000	0.94009	2.008000	0.58898	0.533000	0.62120	GAT		PASS	0.512	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		35	64	35	64	---	---	---	---
MIER3	166968	broad.mit.edu	37	5	56219584	56219584	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr5:56219584G>C	ENST00000381199.3	-	12	1139	c.1129C>G	c.(1129-1131)Cgg>Ggg	p.R377G	MIER3_ENST00000381226.3_Missense_Mutation_p.R382G|MIER3_ENST00000381213.3_Missense_Mutation_p.R376G|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000409421.1_Missense_Mutation_p.R314G			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R376G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GGCTCAGGCCGGTTAGAAGTT	0.423																																						uc003jrd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1129-1131)CGG>GGG		mesoderm induction early response 1, family							141.0	140.0	141.0					5																	56219584		2203	4300	6503	SO:0001583	missense	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56219584G>C	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1129C>G	5.37:g.56219584G>C	ENSP00000370596:p.Arg377Gly					MIER3_uc003jqz.1_Missense_Mutation_p.R314G|MIER3_uc003jra.1_Missense_Mutation_p.R376G|MIER3_uc003jrb.1_Missense_Mutation_p.R201G|MIER3_uc003jrc.1_Missense_Mutation_p.R382G	p.R377G	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	12	1154	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	377					B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37	c.1129C>G		.	.	.	.	.	.	.	.	.	.	G	17.53	3.412644	0.62511	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.98	5.09	0.68999	.	0.248517	0.42294	D	0.000726	T	0.72407	0.3456	M	0.71581	2.175	0.54753	D	0.999982	B;D;D	0.76494	0.007;0.997;0.999	B;D;D	0.73380	0.009;0.952;0.98	T	0.70110	-0.4962	10	0.20519	T	0.43	-19.3328	14.7621	0.69612	0.0:0.0:0.7367:0.2633	.	377;382;376	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	G	382;376;377;314	ENSP00000370624:R382G;ENSP00000370611:R376G;ENSP00000370596:R377G;ENSP00000386584:R314G	ENSP00000370596:R377G	R	-	1	2	MIER3	56255341	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	0.832000	0.27490	1.495000	0.48549	0.563000	0.77884	CGG		PASS	0.423	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		20	8	20	8	---	---	---	---
KIF3A	11127	broad.mit.edu	37	5	132039185	132039185	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr5:132039185T>C	ENST00000378746.4	-	10	1573	c.1355A>G	c.(1354-1356)gAg>gGg	p.E452G	KIF3A_ENST00000403231.1_Missense_Mutation_p.E479G|KIF3A_ENST00000378735.1_Missense_Mutation_p.E455G|KIF3A_ENST00000487055.1_5'UTR|AC004237.1_ENST00000431165.1_RNA	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	452					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.E452G(1)|p.E455G(1)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCCGTTTCTCTAATTCAGC	0.328																																						uc003kxo.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1354-1356)GAG>GGG		kinesin family member 3A							125.0	120.0	122.0					5																	132039185		2201	4299	6500	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132039185T>C	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1355A>G	5.37:g.132039185T>C	ENSP00000368020:p.Glu452Gly					KIF3A_uc003kxm.2_Missense_Mutation_p.E34G|KIF3A_uc003kxn.2_Missense_Mutation_p.E437G|KIF3A_uc011cxf.1_Missense_Mutation_p.E479G|KIF3A_uc003kxp.2_Missense_Mutation_p.E455G	p.E452G	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1509	-		all_cancers(142;0.0751)|Breast(839;0.198)	452			Potential.		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.1355A>G	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.542586	0.65198	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231	T;T;T	0.74526	-0.85;3.66;-0.83	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.68952	2.095	0.80722	D	1	D;D;B;D	0.57899	0.981;0.981;0.421;0.981	D;D;B;D	0.65140	0.932;0.932;0.058;0.932	D	0.85619	0.1263	10	0.66056	D	0.02	.	16.1489	0.81599	0.0:0.0:0.0:1.0	.	479;479;452;478	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	G	452;455;479;479	ENSP00000368020:E452G;ENSP00000368009:E455G;ENSP00000385808:E479G	ENSP00000368009:E455G	E	-	2	0	KIF3A	132067084	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.997000	0.88414	2.272000	0.75746	0.459000	0.35465	GAG		PASS	0.328	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		9	7	9	7	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502858	140502858	+	Silent	SNP	G	G	C	rs577579440		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr5:140502858G>C	ENST00000194152.1	+	1	1278	c.1278G>C	c.(1276-1278)ggG>ggC	p.G426G	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	426	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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G426G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGACTTGGGGACACCCAGGC	0.542																																						uc003lip.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1276-1278)GGG>GGC		protocadherin beta 4 precursor							101.0	90.0	94.0					5																	140502858		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502858G>C	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1278G>C	5.37:g.140502858G>C							p.G426G	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1278	+			426			Cadherin 4.|Extracellular (Potential).		Q4V761	Silent	SNP	ENST00000194152.1	37	c.1278G>C	CCDS4246.1																																																																																				PASS	0.542	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		51	36	51	36	---	---	---	---
HLA-DPA1	3113	broad.mit.edu	37	6	33037649	33037649	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr6:33037649T>A	ENST00000419277.1	-	3	244	c.115A>T	c.(115-117)Act>Tct	p.T39S	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.T39S	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	39	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.T39S(1)		kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GCGGCATAAGTTGACACATGG	0.398																																						uc003ocs.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(115-117)ACT>TCT		major histocompatibility complex, class II, DP							52.0	73.0	65.0					6																	33037649		1510	2708	4218	SO:0001583	missense	3113				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:33037649T>A	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.115A>T	6.37:g.33037649T>A	ENSP00000393566:p.Thr39Ser					HLA-DPA1_uc010juk.2_Missense_Mutation_p.T39S|HLA-DPA1_uc003oct.1_Missense_Mutation_p.T39S	p.T39S	NM_033554	NP_291032	P20036	DPA1_HUMAN			2	146	-			39			Alpha-1.|Extracellular (Potential).		A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	c.115A>T	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	T	0.063	-1.219984	0.01542	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.00705	5.81;5.81;5.81	3.04	1.85	0.25348	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.502799	0.17952	N	0.156472	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.36311	-0.9753	10	0.02654	T	1	.	5.1712	0.15110	0.0:0.1508:0.0:0.8492	.	39	P20036	DPA1_HUMAN	S	39	ENSP00000393566:T39S;ENSP00000402872:T39S;ENSP00000390929:T39S	ENSP00000393566:T39S	T	-	1	0	HLA-DPA1	33145627	0.000000	0.05858	0.002000	0.10522	0.086000	0.17979	0.198000	0.17217	0.350000	0.24002	0.523000	0.50628	ACT		PASS	0.398	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		15	40	15	40	---	---	---	---
VPS52	6293	broad.mit.edu	37	6	33235042	33235042	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr6:33235042G>A	ENST00000445902.2	-	11	1266	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	VPS52_ENST00000436044.2_Missense_Mutation_p.R225C|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_Intron	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	350					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.R350C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ACAGAGCCGCGGGTTCCTAGG	0.557																																						uc003odm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1048-1050)CGC>TGC		vacuolar protein sorting 52							90.0	85.0	87.0					6																	33235042		2203	4300	6503	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33235042G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1048C>T	6.37:g.33235042G>A	ENSP00000409952:p.Arg350Cys					VPS52_uc003odn.1_Intron	p.R350C	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			11	1258	-			350					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1048C>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060900	0.76074	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.78553	0.4301	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81495	-0.0907	9	0.87932	D	0	-9.5343	11.7015	0.51573	0.0:0.0:0.8238:0.1762	.	350	Q8N1B4	VPS52_HUMAN	C	350;328;225	.	ENSP00000414785:R328C	R	-	1	0	VPS52	33343020	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.934000	0.56553	2.932000	0.99384	0.643000	0.83706	CGC		PASS	0.557	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		25	37	25	37	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123588862	123588862	+	Silent	SNP	A	A	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr6:123588862A>G	ENST00000398178.3	-	32	1794	c.1773T>C	c.(1771-1773)tcT>tcC	p.S591S	TRDN_ENST00000334268.4_Silent_p.S591S	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	591					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.S591S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTGTTTTTATAGATGGAGGTT	0.269																																						uc003pzj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1771-1773)TCT>TCC		triadin							50.0	49.0	49.0					6																	123588862		1789	4056	5845	SO:0001819	synonymous_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123588862A>G	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1773T>C	6.37:g.123588862A>G						TRDN_uc010kem.1_Silent_p.S92S	p.S591S	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	32	1795	-			591			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	c.1773T>C	CCDS55053.1																																																																																				PASS	0.269	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	1	3	1	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41729508	41729508	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr7:41729508C>T	ENST00000242208.4	-	3	1267	c.1021G>A	c.(1021-1023)Gct>Act	p.A341T	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.A341T	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	341					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.A341T(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCAGAGGGAGCAATGATCCAG	0.537										TSP Lung(11;0.080)																												uc003thq.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(1021-1023)GCT>ACT		inhibin beta A precursor							116.0	113.0	114.0					7																	41729508		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729508C>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.1021G>A	7.37:g.41729508C>T	ENSP00000242208:p.Ala341Thr	TSP Lung(11;0.080)				INHBA_uc003thr.2_Missense_Mutation_p.A341T	p.A341T	NM_002192	NP_002183	P08476	INHBA_HUMAN			2	1256	-			341					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.1021G>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	19.57	3.852211	0.71719	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	D;D	0.84730	-1.89;-1.89	5.97	5.97	0.96955	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96024	0.9011	10	0.87932	D	0	-7.9772	20.4135	0.99023	0.0:1.0:0.0:0.0	.	341	P08476	INHBA_HUMAN	T	341	ENSP00000242208:A341T;ENSP00000397197:A341T	ENSP00000242208:A341T	A	-	1	0	INHBA	41696033	1.000000	0.71417	0.924000	0.36721	0.994000	0.84299	5.935000	0.70145	2.835000	0.97688	0.591000	0.81541	GCT		PASS	0.537	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			21	49	21	49	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82538245	82538245	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr7:82538245T>C	ENST00000333891.9	-	8	13722	c.13385A>G	c.(13384-13386)aAa>aGa	p.K4462R	PCLO_ENST00000423517.2_Missense_Mutation_p.K4462R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K4462R(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCGGCAGTTTTCGGTCCAG	0.423																																						uc003uhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(13384-13386)AAA>AGA		piccolo isoform 1							119.0	111.0	113.0					7																	82538245		1890	4124	6014	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82538245T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13385A>G	7.37:g.82538245T>C	ENSP00000334319:p.Lys4462Arg					PCLO_uc003uhv.2_Missense_Mutation_p.K4462R	p.K4462R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			8	13674	-			4393						Missense_Mutation	SNP	ENST00000333891.9	37	c.13385A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.493126	0.44352	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.13420	2.59;2.6	5.04	5.04	0.67666	.	.	.	.	.	T	0.07954	0.0199	N	0.14661	0.345	0.80722	D	1	B;B	0.18013	0.009;0.025	B;B	0.15484	0.01;0.013	T	0.15065	-1.0450	9	0.87932	D	0	.	5.6821	0.17782	0.0:0.219:0.0:0.781	.	4462;4462	Q9Y6V0-5;Q9Y6V0-6	.;.	R	4462	ENSP00000334319:K4462R;ENSP00000388393:K4462R	ENSP00000334319:K4462R	K	-	2	0	PCLO	82376181	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.259000	0.51515	2.033000	0.60031	0.402000	0.26972	AAA		PASS	0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	14	4	14	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100204242	100204242	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr7:100204242C>A	ENST00000223061.5	+	6	1209	c.929C>A	c.(928-930)cCt>cAt	p.P310H	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	310					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.P310H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAGGAATCTCCTTCAGCCCCT	0.567																																						uc003uvo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(928-930)CCT>CAT		procollagen C-endopeptidase enhancer							29.0	31.0	31.0					7																	100204242		2203	4300	6503	SO:0001583	missense	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100204242C>A	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.929C>A	7.37:g.100204242C>A	ENSP00000223061:p.Pro310His					uc011kjy.1_5'Flank|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA	p.P310H	NM_002593	NP_002584	Q15113	PCOC1_HUMAN			6	1127	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		310					B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	c.929C>A	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559248	0.27827	.	.	ENSG00000106333	ENST00000223061	T	0.20738	2.05	4.69	1.84	0.25277	.	0.932278	0.09080	N	0.851413	T	0.10423	0.0255	N	0.08118	0	0.23758	N	0.996927	P	0.38642	0.641	B	0.34722	0.188	T	0.21109	-1.0255	10	0.87932	D	0	-3.7786	6.8889	0.24218	0.0:0.6985:0.0:0.3015	.	310	Q15113	PCOC1_HUMAN	H	310	ENSP00000223061:P310H	ENSP00000223061:P310H	P	+	2	0	PCOLCE	100042178	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.515000	0.22801	0.588000	0.29660	0.407000	0.27541	CCT		PASS	0.567	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		4	41	4	41	---	---	---	---
AKR1D1	6718	broad.mit.edu	37	7	137792169	137792169	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr7:137792169T>A	ENST00000242375.3	+	7	740	c.698T>A	c.(697-699)gTt>gAt	p.V233D	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.V192D|AKR1D1_ENST00000432161.1_Missense_Mutation_p.V233D	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	233					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)	p.V233D(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	AGGGTGAATGTTTCTTCTCCA	0.378																																						uc003vtz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(697-699)GTT>GAT		aldo-keto reductase family 1, member D1							165.0	150.0	155.0					7																	137792169		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137792169T>A	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.698T>A	7.37:g.137792169T>A	ENSP00000242375:p.Val233Asp					AKR1D1_uc011kqe.1_Missense_Mutation_p.V233D|AKR1D1_uc011kqf.1_Missense_Mutation_p.V192D|AKR1D1_uc010lmy.1_RNA	p.V233D	NM_005989	NP_005980	P51857	AK1D1_HUMAN			7	767	+			233					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.698T>A	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.311837	0.40895	.	.	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375	T;T;T	0.20738	2.05;2.05;2.05	5.55	3.19	0.36642	NADP-dependent oxidoreductase domain (3);	1.350650	0.04718	N	0.418770	T	0.14657	0.0354	N	0.02916	-0.46	0.21627	N	0.999617	P;P;B	0.41232	0.724;0.743;0.006	P;B;B	0.45610	0.487;0.395;0.018	T	0.32402	-0.9908	10	0.62326	D	0.03	.	7.5484	0.27781	0.0:0.1837:0.0:0.8163	.	192;233;233	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	D	233;192;233	ENSP00000389197:V233D;ENSP00000402374:V192D;ENSP00000242375:V233D	ENSP00000242375:V233D	V	+	2	0	AKR1D1	137442709	0.069000	0.21087	0.000000	0.03702	0.095000	0.18619	2.719000	0.47244	0.537000	0.28751	0.482000	0.46254	GTT		PASS	0.378	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		13	19	13	19	---	---	---	---
ADCK2	90956	broad.mit.edu	37	7	140373931	140373931	+	Silent	SNP	C	C	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr7:140373931C>A	ENST00000072869.4	+	1	979	c.801C>A	c.(799-801)ctC>ctA	p.L267L	ADCK2_ENST00000476491.1_Silent_p.L267L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	267	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L267L(2)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CAGAAAATCTCGCAGACCAGT	0.577																																						uc003vvy.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(799-801)CTC>CTA		aarF domain containing kinase 2							51.0	59.0	56.0					7																	140373931		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373931C>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.801C>A	7.37:g.140373931C>A						ADCK2_uc003vvz.2_Silent_p.L267L	p.L267L	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN			1	979	+	Melanoma(164;0.00956)		267			Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.801C>A	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	C	5.179	0.218648	0.09810	.	.	ENSG00000133597	ENST00000483369	.	.	.	4.21	-5.36	0.02689	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35176	-0.9799	4	.	.	.	-13.0369	5.7439	0.18110	0.0:0.3271:0.2525:0.4203	.	.	.	.	S	105	.	.	R	+	1	0	ADCK2	140020400	0.001000	0.12720	0.703000	0.30354	0.508000	0.34012	-0.688000	0.05150	-0.411000	0.07530	-0.459000	0.05422	CGC		PASS	0.577	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		4	89	4	89	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497207	1497207	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:1497207C>A	ENST00000421627.2	+	2	482	c.348C>A	c.(346-348)ttC>ttA	p.F116L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	195					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.F160L(1)|p.F138L(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGGACCAGTTCGAGAAGCAGC	0.697																																						uc003wpl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(346-348)TTC>TTA		discs large-associated protein 2							8.0	10.0	10.0					8																	1497207		2177	4250	6427	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497207C>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.348C>A	8.37:g.1497207C>A	ENSP00000400258:p.Phe116Leu					DLGAP2_uc003wpm.2_Missense_Mutation_p.F116L	p.F116L	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	445	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	195					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.348C>A	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.490878|4.490878	0.84962|0.84962	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.18338|.	2.22|.	5.57|5.57	-8.3|-8.3	0.01005|0.01005	.|.	0.095968|.	0.85682|.	D|.	0.000000|.	T|.	0.65333|.	0.2681|.	M|M	0.69823|0.69823	2.125|2.125	0.35868|0.35868	D|D	0.828027|0.828027	D;D|.	0.67145|.	0.996;0.993|.	P;P|.	0.56127|.	0.792;0.625|.	T|.	0.72516|.	-0.4269|.	10|.	0.56958|.	D|.	0.05|.	-4.6188|-4.6188	13.8978|13.8978	0.63783|0.63783	0.0:0.0761:0.0828:0.8411|0.0:0.0761:0.0828:0.8411	.|.	195;195|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	L|X	161;116|133	ENSP00000400258:F116L|.	ENSP00000348366:F161L|.	F|S	+|+	3|2	2|0	DLGAP2|DLGAP2	1484614|1484614	0.988000|0.988000	0.35896|0.35896	0.662000|0.662000	0.29724|0.29724	0.985000|0.985000	0.73830|0.73830	0.145000|0.145000	0.16157|0.16157	-1.972000|-1.972000	0.01001|0.01001	-0.136000|-0.136000	0.14681|0.14681	TTC|TCG		PASS	0.697	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		5	3	5	3	---	---	---	---
TNFRSF10B	8795	broad.mit.edu	37	8	22887122	22887122	+	Splice_Site	SNP	C	C	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:22887122C>A	ENST00000276431.4	-	4	761		c.e4+1		TNFRSF10B_ENST00000519910.1_Splice_Site|TNFRSF10B_ENST00000542226.1_Splice_Site|TNFRSF10B_ENST00000347739.3_Splice_Site	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)	p.?(1)		NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TCCTGTCTCACCCTGTGCGGC	0.592																																					GBM(94;1064 1342 1839 21060 42553)	uc003xcu.2																			1	Unknown(1)		lung(1)		0						c.e4+1		tumor necrosis factor receptor superfamily,							36.0	31.0	33.0					8																	22887122		2203	4300	6503	SO:0001630	splice_region_variant	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22887122C>A	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.476+1G>T	8.37:g.22887122C>A						TNFRSF10B_uc003xcs.1_5'Flank|TNFRSF10B_uc003xct.2_Splice_Site_p.G159_splice|TNFRSF10B_uc011kzq.1_Splice_Site_p.G8_splice|TNFRSF10B_uc003xcv.2_Splice_Site_p.G57_splice	p.G159_splice	NM_003842	NP_003833	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	4	769	-		Prostate(55;0.0421)|Breast(100;0.067)						O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Splice_Site	SNP	ENST00000276431.4	37	c.476_splice	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	11.90	1.777767	0.31502	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	.	.	.	3.82	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3763	0.49730	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNFRSF10B	22943067	0.386000	0.25180	0.706000	0.30403	0.043000	0.13939	1.384000	0.34396	2.126000	0.65437	0.655000	0.94253	.		PASS	0.592	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187	Intron	10	16	10	16	---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	28988133	28988133	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:28988133G>T	ENST00000524189.1	-	24	3030	c.2992C>A	c.(2992-2994)Cag>Aag	p.Q998K	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	998					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.Q998K(2)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTCTCATTCTGTTCCAAGATT	0.403																																						uc003xhh.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2992-2994)CAG>AAG		kinesin family member 13B							133.0	125.0	127.0					8																	28988133		1849	4099	5948	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28988133G>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2992C>A	8.37:g.28988133G>T	ENSP00000427900:p.Gln998Lys					uc003xhi.1_Intron	p.Q998K	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	24	3051	-		Ovarian(32;0.000536)	998					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.2992C>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.481984	0.63849	.	.	ENSG00000197892	ENST00000524189	T	0.75704	-0.96	4.51	4.51	0.55191	.	0.160570	0.41194	D	0.000938	T	0.66858	0.2832	N	0.22421	0.69	0.80722	D	1	P	0.35944	0.529	B	0.39465	0.3	T	0.72906	-0.4150	10	0.87932	D	0	.	17.4128	0.87491	0.0:0.0:1.0:0.0	.	998	F8VPJ2	.	K	998	ENSP00000427900:Q998K	ENSP00000427900:Q998K	Q	-	1	0	KIF13B	29044052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.789000	0.47813	2.323000	0.78572	0.650000	0.86243	CAG		PASS	0.403	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			10	25	10	25	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41845059	41845059	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:41845059A>G	ENST00000396930.3	-	4	1166	c.623T>C	c.(622-624)aTc>aCc	p.I208T	KAT6A_ENST00000406337.1_Missense_Mutation_p.I208T|KAT6A_ENST00000485568.1_Missense_Mutation_p.I208T|KAT6A_ENST00000265713.2_Missense_Mutation_p.I208T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	208	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.I208T(1)									GAAACTACAGATGGGGATTGG	0.383																																						uc010lxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(622-624)ATC>ACC		MYST histone acetyltransferase (monocytic							215.0	237.0	230.0					8																	41845059		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.chr8:41845059A>G	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.623T>C	8.37:g.41845059A>G	ENSP00000380136:p.Ile208Thr					MYST3_uc010lxc.2_Missense_Mutation_p.I208T|MYST3_uc003xon.3_Missense_Mutation_p.I208T|MYST3_uc010lxd.2_Missense_Mutation_p.I208T	p.I208T	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)		4	1167	-	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)	208			PHD-type 1.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.623T>C	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574585	0.45902	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.56	5.56	0.83823	.	0.079408	0.52532	D	0.000064	D	0.89107	0.6621	L	0.31157	0.91	0.58432	D	0.999995	D;D	0.89917	0.957;1.0	P;D	0.87578	0.741;0.998	D	0.88646	0.3179	10	0.38643	T	0.18	-23.168	14.2535	0.66035	1.0:0.0:0.0:0.0	.	208;208	A5PLL3;Q92794	.;KAT6A_HUMAN	T	208	ENSP00000265713:I208T;ENSP00000385888:I208T;ENSP00000380136:I208T;ENSP00000430606:I208T	ENSP00000265713:I208T	I	-	2	0	KAT6A	41964216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.904000	0.92590	2.099000	0.63709	0.482000	0.46254	ATC		PASS	0.383	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		6	179	6	179	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77763156	77763156	+	Silent	SNP	T	T	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:77763156T>G	ENST00000521891.2	+	10	4447	c.3999T>G	c.(3997-3999)ggT>ggG	p.G1333G	ZFHX4_ENST00000455469.2_Silent_p.G1288G|ZFHX4_ENST00000050961.6_Silent_p.G1288G|ZFHX4_ENST00000518282.1_Silent_p.G1307G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G1333G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCATGGCAGGTCTCGAGGATT	0.368										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3862-3864)GGT>GGG		zinc finger homeodomain 4							41.0	40.0	41.0					8																	77763156		1839	4084	5923	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763156T>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3999T>G	8.37:g.77763156T>G		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.G1333G|ZFHX4_uc003yaw.1_Silent_p.G1288G	p.G1288G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4251	+			1288					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.3864T>G	CCDS47878.2																																																																																				PASS	0.368	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	18	8	18	---	---	---	---
LRRC6	23639	broad.mit.edu	37	8	133623603	133623603	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:133623603C>A	ENST00000519595.1	-	9	1079	c.981G>T	c.(979-981)atG>atT	p.M327I	LRRC6_ENST00000518642.1_Missense_Mutation_p.M327I|LRRC6_ENST00000250173.1_Missense_Mutation_p.M327I			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	327	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.M327I(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAGAGGTATCCATATACCTTC	0.299																																						uc003ytk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(979-981)ATG>ATT		leucine rich repeat containing 6							59.0	59.0	59.0					8																	133623603		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133623603C>A	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.981G>T	8.37:g.133623603C>A	ENSP00000429791:p.Met327Ile					LRRC6_uc003ytl.2_RNA	p.M327I	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		9	1055	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		327			CS.		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.981G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.78|14.78	2.636320|2.636320	0.47049|0.47049	.|.	.|.	ENSG00000129295|ENSG00000129295	ENST00000519085|ENST00000519595;ENST00000522789;ENST00000518642;ENST00000250173;ENST00000395414	.|T;T;T;T	.|0.74737	.|-0.87;-0.87;1.12;-0.87	5.89|5.89	5.89|5.89	0.94794|0.94794	.|CS-like domain (1);	.|0.125102	.|0.64402	.|D	.|0.000001	.|T	.|0.73536	.|0.3599	M|M	0.62088|0.62088	1.915|1.915	0.50313|0.50313	D|D	0.999865|0.999865	.|P	.|0.35124	.|0.485	.|B	.|0.32211	.|0.142	.|T	.|0.75202	.|-0.3401	.|10	.|0.66056	.|D	.|0.02	-30.436|-30.436	18.8205|18.8205	0.92096|0.92096	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|327	.|Q86X45	.|LRRC6_HUMAN	X|I	49|327;67;327;327;327	.|ENSP00000429791:M327I;ENSP00000428015:M67I;ENSP00000428610:M327I;ENSP00000250173:M327I	.|ENSP00000250173:M327I	G|M	-|-	1|3	0|0	LRRC6|LRRC6	133692785|133692785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.576000|0.576000	0.36127|0.36127	5.681000|5.681000	0.68175|0.68175	2.793000|2.793000	0.96121|0.96121	0.561000|0.561000	0.74099|0.74099	GGA|ATG		PASS	0.299	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		3	11	3	11	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144621138	144621138	+	Silent	SNP	A	A	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:144621138A>C	ENST00000262577.5	-	2	430	c.399T>G	c.(397-399)tcT>tcG	p.S133S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	133					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.S133S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGGCAGAGCCAGACTTTGATG	0.602																																						uc003yyd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(397-399)TCT>TCG		zinc finger CCCH-type containing 3							46.0	54.0	51.0					8																	144621138		2203	4296	6499	SO:0001819	synonymous_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144621138A>C	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.399T>G	8.37:g.144621138A>C							p.S133S	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	428	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		133					Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	c.399T>G	CCDS6402.1																																																																																				PASS	0.602	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		6	76	6	76	---	---	---	---
FAM221B	392307	broad.mit.edu	37	9	35826091	35826091	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr9:35826091T>C	ENST00000423537.2	-	2	337	c.68A>G	c.(67-69)aAg>aGg	p.K23R	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	23								p.K23R(3)		endometrium(2)|kidney(1)|lung(4)	7						AGAGGGGTCCTTTGAAGGGGG	0.502											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010mlc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(67-69)AAG>AGG		hypothetical protein LOC392307							67.0	67.0	67.0					9																	35826091		1913	4117	6030	SO:0001583	missense	392307							g.chr9:35826091T>C	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.68A>G	9.37:g.35826091T>C	ENSP00000415299:p.Lys23Arg		OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	858	C9orf128_uc003zyj.2_RNA|C9orf128_uc011lpg.1_Missense_Mutation_p.K23R	p.K23R	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	353	-	all_epithelial(49;0.161)		23					Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	c.68A>G	CCDS43799.2	.	.	.	.	.	.	.	.	.	.	t	6.334	0.429781	0.11987	.	.	ENSG00000204930	ENST00000423537;ENST00000377984;ENST00000472182	T;T;T	0.48201	2.27;2.0;0.82	4.36	3.19	0.36642	.	0.488003	0.17250	N	0.181193	T	0.44307	0.1287	N	0.24115	0.695	0.09310	N	1	D	0.54207	0.965	P	0.58077	0.832	T	0.19257	-1.0311	10	0.25106	T	0.35	.	8.1768	0.31287	0.0:0.0:0.2025:0.7975	.	23	A6H8Z2	CI128_HUMAN	R	23	ENSP00000415299:K23R;ENSP00000367222:K23R;ENSP00000420279:K23R	ENSP00000367222:K23R	K	-	2	0	C9orf128	35816091	0.961000	0.32948	0.057000	0.19452	0.064000	0.16182	0.589000	0.23939	0.789000	0.33779	0.524000	0.50904	AAG		PASS	0.502	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446		23	47	23	47	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15255479	15255479	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:15255479G>A	ENST00000378116.4	-	8	2114	c.2108C>T	c.(2107-2109)cCg>cTg	p.P703L	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	703						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P703L(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCGGGGGTGCGGAAGCGGCTT	0.567																																						uc001iob.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.(2107-2109)CCG>CTG		hypothetical protein LOC221061 precursor							56.0	62.0	60.0					10																	15255479		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255479G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2108C>T	10.37:g.15255479G>A	ENSP00000367356:p.Pro703Leu						p.P703L	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			8	2115	-			703			Cytoplasmic (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2108C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823949	0.71143	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.38887	1.11	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71090	-0.4693	10	0.87932	D	0	-16.8871	19.0487	0.93032	0.0:0.0:1.0:0.0	.	703	Q5VUB5	F1711_HUMAN	L	703;702	ENSP00000367356:P703L	ENSP00000367356:P703L	P	-	2	0	FAM171A1	15295485	1.000000	0.71417	0.829000	0.32907	0.879000	0.50718	7.660000	0.83776	2.724000	0.93272	0.563000	0.77884	CCG		PASS	0.567	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		31	37	31	37	---	---	---	---
C10orf105	414152	broad.mit.edu	37	10	73491744	73491744	+	Intron	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:73491744G>A	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Splice_Site_p.G1244E	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)		p.G1244E(1)									CCTCCTACAGGGGATGGTGGC	0.592																																						uc001jrx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(3715-3717)GGG>GAG		cadherin-like 23 isoform 1 precursor							42.0	45.0	44.0					10																	73491744		2039	4184	6223	SO:0001627	intron_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73491744G>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5740C>T	10.37:g.73491744G>A						CDH23_uc001jrz.2_Missense_Mutation_p.G855E|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.G47E	p.G1239E	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			31	4093	+			1239			Cadherin 12.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000398786.2	37	c.3716G>A	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811301	0.90707	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.81	4.81	0.61882	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77136	0.4086	L	0.61036	1.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.76016	-0.3113	8	.	.	.	.	18.4183	0.90577	0.0:0.0:1.0:0.0	.	60;1239;1239	E7ERT0;Q6P152;Q9H251	.;.;CAD23_HUMAN	E	1244;1239;1242;60	.	.	G	+	2	0	CDH23	73161750	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	9.559000	0.98135	2.654000	0.90174	0.561000	0.74099	GGG		PASS	0.592	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		12	31	12	31	---	---	---	---
JAKMIP3	282973	broad.mit.edu	37	10	133967422	133967422	+	Silent	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:133967422G>T	ENST00000298622.4	+	18	2280	c.2142G>T	c.(2140-2142)ctG>ctT	p.L714L	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	714						Golgi apparatus (GO:0005794)		p.L714L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TTCAGGAGCTGTTCAGTAAGC	0.612																																						uc001lkx.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(2140-2142)CTG>CTT		Janus kinase and microtubule interacting protein							100.0	85.0	90.0					10																	133967422		2201	4298	6499	SO:0001819	synonymous_variant	282973							g.chr10:133967422G>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2142G>T	10.37:g.133967422G>T						JAKMIP3_uc009yba.1_Silent_p.L151L	p.L714L	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	18	2142	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.2142G>T	CCDS44494.1																																																																																				PASS	0.612	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		4	89	4	89	---	---	---	---
STK32C	282974	broad.mit.edu	37	10	134040467	134040467	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:134040467G>A	ENST00000368622.1	-	4	506	c.125C>T	c.(124-126)tCc>tTc	p.S42F	STK32C_ENST00000368625.4_Missense_Mutation_p.S172F					serine/threonine kinase 32C									p.S159F(1)|p.S172F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GTCCTGGAAGGAGTACCTGTG	0.627																																						uc001lle.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|lung(2)|breast(1)	5						c.(475-477)TCC>TTC		serine/threonine kinase 32C							153.0	95.0	115.0					10																	134040467		2203	4300	6503	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134040467G>A	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.125C>T	10.37:g.134040467G>A	ENSP00000357611:p.Ser42Phe					STK32C_uc001lld.1_Missense_Mutation_p.S42F|STK32C_uc010quu.1_Missense_Mutation_p.S172F|STK32C_uc009ybc.1_Missense_Mutation_p.S42F|STK32C_uc009ybd.1_Missense_Mutation_p.S42F|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA	p.S159F	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	4	616	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	159			Protein kinase.			Missense_Mutation	SNP	ENST00000368622.1	37	c.476C>T		.	.	.	.	.	.	.	.	.	.	G	25.6	4.656080	0.88056	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.65916	-0.18;-0.18;-0.18	4.42	4.42	0.53409	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	0.64402	D	0.000011	T	0.73466	0.3590	L	0.43757	1.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.997;0.996	T	0.77472	-0.2575	10	0.87932	D	0	.	17.0964	0.86636	0.0:0.0:1.0:0.0	.	172;98;159	B7Z7J1;F2Z300;Q86UX6	.;.;ST32C_HUMAN	F	42;159;172	ENSP00000357611:S42F;ENSP00000298630:S159F;ENSP00000357614:S172F	ENSP00000298630:S159F	S	-	2	0	STK32C	133890457	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.105000	0.94246	2.031000	0.59945	0.460000	0.39030	TCC		PASS	0.627	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		11	28	11	28	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406376	55406376	+	Silent	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:55406376T>C	ENST00000314612.2	+	1	543	c.543T>C	c.(541-543)ccT>ccC	p.P181P		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P181P(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATGTGTATCCTTTGCTGAAAT	0.388																																						uc010rij.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(541-543)CCT>CCC		olfactory receptor, family 4, subfamily P,							110.0	92.0	98.0					11																	55406376		2178	4011	6189	SO:0001819	synonymous_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406376T>C	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.543T>C	11.37:g.55406376T>C							p.P181P	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	543	+			181			Extracellular (Potential).			Silent	SNP	ENST00000314612.2	37	c.543T>C	CCDS31504.1																																																																																				PASS	0.388	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		9	2	9	2	---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271853	59271853	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:59271853A>C	ENST00000313253.1	+	1	805	c.805A>C	c.(805-807)Aag>Cag	p.K269Q		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K269Q(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CCCCACAGAAAAGGCCATCTC	0.527																																						uc001noa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(805-807)AAG>CAG		olfactory receptor, family 4, subfamily D,							205.0	188.0	194.0					11																	59271853		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271853A>C	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.805A>C	11.37:g.59271853A>C	ENSP00000320077:p.Lys269Gln						p.K269Q	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	805	+			269			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.805A>C	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	a	6.219	0.408640	0.11812	.	.	ENSG00000176200	ENST00000313253	T	0.00188	8.59	5.44	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000057	T	0.00356	0.0011	M	0.82517	2.595	0.09310	N	1	B	0.25351	0.124	B	0.36922	0.236	T	0.13361	-1.0512	10	0.87932	D	0	-14.8252	12.7453	0.57278	0.8539:0.1461:0.0:0.0	.	269	Q8NGI4	OR4DB_HUMAN	Q	269	ENSP00000320077:K269Q	ENSP00000320077:K269Q	K	+	1	0	OR4D11	59028429	0.036000	0.19791	0.156000	0.22583	0.040000	0.13550	2.373000	0.44266	2.065000	0.61736	0.455000	0.32223	AAG		PASS	0.527	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		64	88	64	88	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62414975	62414975	+	Silent	SNP	C	C	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:62414975C>T	ENST00000330574.2	-	2	2629	c.2577G>A	c.(2575-2577)gaG>gaA	p.E859E	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	859					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.E859E(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GCTTTAACAGCTCAAAGAGCA	0.677																																						uc001nud.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2575-2577)GAG>GAA		integrator complex subunit 5							30.0	36.0	34.0					11																	62414975		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414975C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2577G>A	11.37:g.62414975C>T						GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.E859E	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	2630	-			859			Helical; (Potential).		Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.2577G>A	CCDS8027.1																																																																																				PASS	0.677	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		14	24	14	24	---	---	---	---
KLC2	64837	broad.mit.edu	37	11	66030426	66030426	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:66030426C>T	ENST00000417856.1	+	5	914	c.671C>T	c.(670-672)gCa>gTa	p.A224V	KLC2_ENST00000394066.2_Missense_Mutation_p.A147V|KLC2_ENST00000394078.1_Missense_Mutation_p.A224V|KLC2_ENST00000421552.1_Missense_Mutation_p.A147V|KLC2_ENST00000394067.2_Missense_Mutation_p.A224V|KLC2_ENST00000394065.2_Missense_Mutation_p.A85V|KLC2_ENST00000316924.5_Missense_Mutation_p.A224V|RP11-867G23.1_ENST00000530805.1_RNA|RP11-755F10.3_ENST00000533576.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	224					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.A224V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGCAAGCAGGCACTCGAAGAC	0.622																																						uc010rov.1																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)GCA>GTA		kinesin light chain 2 isoform 1							99.0	82.0	87.0					11																	66030426		2200	4295	6495	SO:0001583	missense	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66030426C>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.671C>T	11.37:g.66030426C>T	ENSP00000399403:p.Ala224Val					KLC2_uc010row.1_Missense_Mutation_p.A224V|KLC2_uc009yra.2_Missense_Mutation_p.A224V|KLC2_uc001ohb.2_Missense_Mutation_p.A224V|KLC2_uc010rox.1_Missense_Mutation_p.A147V|KLC2_uc001ohc.2_Missense_Mutation_p.A224V|KLC2_uc001ohd.2_Missense_Mutation_p.A147V|KLC2_uc001ohe.1_Missense_Mutation_p.A85V	p.A224V	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN			5	914	+			224			TPR 1.		A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	c.671C>T	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809267	0.90707	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394078;ENST00000461611;ENST00000394066;ENST00000394065	T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	3.86	3.86	0.44501	Tetratricopeptide-like helical (1);Rabaptin, GTPase-Rab5 binding (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000002	T	0.71264	0.3319	L	0.58302	1.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;P	0.87578	0.998;0.996;0.993;0.846	T	0.73591	-0.3934	10	0.51188	T	0.08	-10.9871	14.7237	0.69326	0.0:1.0:0.0:0.0	.	224;85;147;224	A8MX29;A8MZ87;A8MXL7;Q9H0B6	.;.;.;KLC2_HUMAN	V	224;224;224;147;224;147;147;85	ENSP00000399403:A224V;ENSP00000377631:A224V;ENSP00000314837:A224V;ENSP00000408484:A147V;ENSP00000377641:A224V;ENSP00000434538:A147V;ENSP00000377630:A147V;ENSP00000377629:A85V	ENSP00000314837:A224V	A	+	2	0	KLC2	65787002	1.000000	0.71417	0.944000	0.38274	0.815000	0.46073	7.602000	0.82796	1.976000	0.57569	0.561000	0.74099	GCA		PASS	0.622	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		22	55	22	55	---	---	---	---
FOLR3	2352	broad.mit.edu	37	11	71850518	71850518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:71850518G>A	ENST00000445078.2	+	4	676	c.605G>A	c.(604-606)tGg>tAg	p.W202*	FOLR3_ENST00000442948.2_Nonsense_Mutation_p.W161*|FOLR3_ENST00000456237.1_Nonsense_Mutation_p.W204*			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	160					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)	p.W204*(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GGCTGGAATTGGACCTCAGGT	0.572																																						uc001ory.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(610-612)TGG>TAG		SubName: Full=FOLR3 protein; Flags: Fragment;	Folic Acid(DB00158)						26.0	26.0	26.0					11																	71850518		2200	4293	6493	SO:0001587	stop_gained	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850518G>A	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.605G>A	11.37:g.71850518G>A	ENSP00000390338:p.Trp202*					FOLR3_uc001orx.1_Nonsense_Mutation_p.W162*	p.W204*			P41439	FOLR3_HUMAN			4	661	+			160					J3KQ90|Q05C14	Nonsense_Mutation	SNP	ENST00000445078.2	37	c.611G>A		.	.	.	.	.	.	.	.	.	.	N	18.29	3.590388	0.66219	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	.	.	.	3.21	3.21	0.36854	.	0.092955	0.47455	U	0.000221	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4664	0.61256	0.0:0.0:1.0:0.0	.	.	.	.	X	202;204;161	.	ENSP00000411161:W161X	W	+	2	0	FOLR3	71528166	1.000000	0.71417	0.993000	0.49108	0.338000	0.28826	9.322000	0.96357	1.789000	0.52484	0.591000	0.81541	TGG		PASS	0.572	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		10	19	10	19	---	---	---	---
GLB1L2	89944	broad.mit.edu	37	11	134244883	134244883	+	Silent	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:134244883G>A	ENST00000535456.2	+	19	2030	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Silent_p.E614E|GLB1L2_ENST00000339772.7_Silent_p.E614E	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	614					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.E614E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTTTTGAGGAGACGATGGCGG	0.627																																						uc001qhp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1840-1842)GAG>GAA		galactosidase, beta 1-like 2 precursor							51.0	44.0	46.0					11																	134244883		2201	4297	6498	SO:0001819	synonymous_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134244883G>A		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1842G>A	11.37:g.134244883G>A						GLB1L2_uc009zdg.1_RNA	p.E614E	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	19	2030	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	614					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	c.1842G>A	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	G	1.510	-0.549727	0.03996	.	.	ENSG00000149328	ENST00000525089	.	.	.	5.32	3.1	0.35709	.	.	.	.	.	T	0.60715	0.2290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58399	-0.7643	4	.	.	.	-37.4773	11.0537	0.47905	0.1726:0.0:0.8274:0.0	.	.	.	.	N	553	.	.	D	+	1	0	GLB1L2	133750093	0.984000	0.35163	0.985000	0.45067	0.192000	0.23643	1.802000	0.38853	1.232000	0.43678	0.591000	0.81541	GAC		PASS	0.627	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		4	18	4	18	---	---	---	---
GALNT8	26290	broad.mit.edu	37	12	4854615	4854615	+	Missense_Mutation	SNP	G	G	A	rs375631897		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr12:4854615G>A	ENST00000252318.2	+	5	1218	c.881G>A	c.(880-882)cGg>cAg	p.R294Q		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	294	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R294Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATCTTGGCTCGGATTCAGGAG	0.478																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(880-882)CGG>CAG		polypeptide N-acetylgalactosaminyltransferase 8		G	GLN/ARG	0,4406		0,0,2203	116.0	95.0	102.0		881	2.3	0.9	12		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT8	NM_017417.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	294/638	4854615	1,13005	2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4854615G>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.881G>A	12.37:g.4854615G>A	ENSP00000252318:p.Arg294Gln						p.R294Q	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			5	973	+			294			Lumenal (Potential).|Catalytic subdomain A.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.881G>A	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114838	0.56505	0.0	1.16E-4	ENSG00000130035	ENST00000252318	T	0.61627	0.09	4.11	2.28	0.28536	Glycosyl transferase, family 2 (1);	0.081559	0.48767	D	0.000161	T	0.51058	0.1652	L	0.53729	1.69	0.23991	N	0.996244	P	0.52842	0.956	B	0.43990	0.438	T	0.48007	-0.9072	10	0.66056	D	0.02	.	8.3468	0.32277	0.1986:0.0:0.8014:0.0	.	294	Q9NY28	GALT8_HUMAN	Q	294	ENSP00000252318:R294Q	ENSP00000252318:R294Q	R	+	2	0	GALNT8	4724876	0.932000	0.31603	0.916000	0.36221	0.946000	0.59487	2.460000	0.45031	0.399000	0.25367	-0.332000	0.08345	CGG		PASS	0.478	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		13	18	13	18	---	---	---	---
CCDC38	120935	broad.mit.edu	37	12	96292183	96292183	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr12:96292183C>G	ENST00000344280.3	-	7	1151	c.594G>C	c.(592-594)atG>atC	p.M198I	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	198								p.M198I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTGTACCTCCATGCTTGCTT	0.418																																						uc001tek.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(592-594)ATG>ATC		coiled-coil domain containing 38							354.0	269.0	298.0					12																	96292183		2203	4300	6503	SO:0001583	missense	120935							g.chr12:96292183C>G	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.594G>C	12.37:g.96292183C>G	ENSP00000345470:p.Met198Ile						p.M198I	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			7	828	-			198			Potential.		Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.594G>C	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475325	0.26511	.	.	ENSG00000165972	ENST00000344280	T	0.16324	2.35	5.4	2.36	0.29203	.	0.590339	0.18603	N	0.136386	T	0.12518	0.0304	L	0.41236	1.265	0.80722	D	1	B	0.14438	0.01	B	0.15052	0.012	T	0.08493	-1.0719	10	0.35671	T	0.21	-9.7026	6.1544	0.20330	0.4346:0.4775:0.0:0.0879	.	198	Q502W7	CCD38_HUMAN	I	198	ENSP00000345470:M198I	ENSP00000345470:M198I	M	-	3	0	CCDC38	94816314	0.721000	0.28007	0.533000	0.28001	0.139000	0.21198	0.135000	0.15952	0.621000	0.30232	0.491000	0.48974	ATG		PASS	0.418	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		24	59	24	59	---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	111891561	111891561	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr12:111891561T>C	ENST00000377617.3	-	24	3994	c.3833A>G	c.(3832-3834)cAg>cGg	p.Q1278R	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000389153.4_Missense_Mutation_p.Q1015R|ATXN2_ENST00000542287.2_Missense_Mutation_p.Q1038R|ATXN2_ENST00000535949.1_Missense_Mutation_p.Q971R|ATXN2_ENST00000608853.1_Missense_Mutation_p.Q1118R	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1278					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.Q1278R(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GAGGGCGGCCTGGGGACCGCC	0.567																																						uc001tsj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(3832-3834)CAG>CGG		ataxin 2							118.0	97.0	104.0					12																	111891561		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111891561T>C	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3833A>G	12.37:g.111891561T>C	ENSP00000366843:p.Gln1278Arg					ATXN2_uc001tsh.2_Missense_Mutation_p.Q1038R|ATXN2_uc001tsi.2_Missense_Mutation_p.Q971R|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Intron|ATXN2_uc001tsl.1_3'UTR	p.Q1278R	NM_002973	NP_002964	Q99700	ATX2_HUMAN			24	3995	-			1278					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3833A>G	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.819633	0.50633	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000542287;ENST00000535949	T	0.69806	-0.43	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	L	0.27053	0.805	0.80722	D	1	D;D;B	0.60160	0.987;0.967;0.196	D;D;B	0.67725	0.953;0.932;0.055	T	0.72020	-0.4416	10	0.40728	T	0.16	-6.6406	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1278;971;1038	Q99700;Q24JQ7;F8VQP2	ATX2_HUMAN;.;.	R	1015;1278;1038;971	ENSP00000366843:Q1278R	ENSP00000366843:Q1278R	Q	-	2	0	ATXN2	110375944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.264000	0.78432	2.333000	0.79357	0.533000	0.62120	CAG		PASS	0.567	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		10	22	10	22	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121416852	121416852	+	Missense_Mutation	SNP	C	C	A	rs193922593		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr12:121416852C>A	ENST00000257555.6	+	1	507	c.281C>A	c.(280-282)cCt>cAt	p.P94H	HNF1A_ENST00000541395.1_Missense_Mutation_p.P94H|HNF1A_ENST00000400024.2_Missense_Mutation_p.P94H|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000543427.1_Intron|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000544413.1_Missense_Mutation_p.P94H|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000402929.1_Missense_Mutation_p.P94H|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	94					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 regulatory region DNA binding (GO:0044212)	p.P94H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AACCTCAGCCCTGAGGAGGCG	0.667									Hepatic Adenoma, Familial Clustering of																													uc001tzg.2																			1	Substitution - Missense(1)		lung(1)	liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116						c.(280-282)CCT>CAT		hepatic nuclear factor-1-alpha							24.0	30.0	28.0					12																	121416852		2200	4294	6494	SO:0001583	missense	6927	Hepatic_Adenoma_Familial_Clustering_of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121416852C>A	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.281C>A	12.37:g.121416852C>A	ENSP00000257555:p.Pro94His					HNF1A_uc001tze.1_Missense_Mutation_p.P94H|HNF1A_uc001tzf.2_Missense_Mutation_p.P94H|HNF1A_uc010szn.1_Missense_Mutation_p.P94H	p.P94H	NM_000545	NP_000536	P20823	HNF1A_HUMAN			1	304	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		94					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.281C>A	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567036	0.86439	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D	0.98585	-5.01;-5.01;-5.01	4.52	4.52	0.55395	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.187974	0.36815	N	0.002394	D	0.98172	0.9396	L	0.55481	1.735	0.80722	D	1	P;P;D;D	0.58268	0.925;0.795;0.98;0.982	P;P;P;P	0.59424	0.629;0.679;0.758;0.857	D	0.99457	1.0942	10	0.87932	D	0	-10.459	16.2377	0.82389	0.0:1.0:0.0:0.0	.	94;94;94;94	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	H	94	ENSP00000257555:P94H;ENSP00000443112:P94H;ENSP00000438804:P94H	ENSP00000257555:P94H	P	+	2	0	HNF1A	119901235	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.221000	0.78016	2.059000	0.61396	0.591000	0.81541	CCT		PASS	0.667	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		7	7	7	7	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19753543	19753544	+	Missense_Mutation	DNP	TC	TC	GA			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr13:19753543_19753544TC>GA	ENST00000400113.3	-	2	267_268	c.163_164GA>TC	c.(163-165)GAg>TCg	p.E55S	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	55					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E55A(1)|p.E55S(1)|p.E55*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGCTCCAGTCTCACTGAAGAAC	0.554																																						uc009zzj.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(3)|skin(2)	5						c.(163-165)GAG>GCG|c.(163-165)GAG>TAG		tubulin, alpha 3c																																				SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19753543T>G|g.chr13:19753544C>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.163_164delinsGA	13.37:g.19753543_19753544delinsGA	ENSP00000382982:p.Glu55Ser						p.E55A|p.E55*	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	213|212	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	55					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000400113.3	37	c.164A>C|c.163G>T	CCDS9284.1																																																																																				PASS	0.554	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		10|11	110	10	110	---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70925106	70925106	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr14:70925106T>C	ENST00000603540.1	+	2	1148	c.890T>C	c.(889-891)aTg>aCg	p.M297T	ADAM21_ENST00000267499.3_Missense_Mutation_p.M297T|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	297	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.M297T(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTGCACATATGTTCATAAAA	0.383																																						uc001xmd.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(889-891)ATG>ACG		ADAM metallopeptidase domain 21 preproprotein							95.0	95.0	95.0					14																	70925106		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925106T>C	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.890T>C	14.37:g.70925106T>C	ENSP00000474385:p.Met297Thr						p.M297T	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	890	+			297			Peptidase M12B.|Extracellular (Potential).		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.890T>C	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.504783	0.26949	.	.	ENSG00000139985	ENST00000267499	T	0.63913	-0.07	4.36	4.36	0.52297	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.775194	0.10761	N	0.637160	T	0.51975	0.1706	L	0.27053	0.805	0.27184	N	0.960598	B	0.15141	0.012	B	0.17979	0.02	T	0.50491	-0.8822	10	0.87932	D	0	.	12.5671	0.56316	0.0:0.0:0.0:1.0	.	297	Q9UKJ8	ADA21_HUMAN	T	297	ENSP00000267499:M297T	ENSP00000267499:M297T	M	+	2	0	ADAM21	69994859	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	2.878000	0.48515	1.960000	0.56953	0.455000	0.32223	ATG		PASS	0.383	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			24	38	24	38	---	---	---	---
PLD4	122618	broad.mit.edu	37	14	105396392	105396392	+	Missense_Mutation	SNP	C	C	G	rs371620185		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr14:105396392C>G	ENST00000392593.4	+	6	835	c.667C>G	c.(667-669)Cgg>Ggg	p.R223G	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Missense_Mutation_p.R230G	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	223	PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)	p.R206G(1)|p.R223G(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			TGTGGATGGACGGCACATATA	0.602																																						uc001ypu.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(667-669)CGG>GGG		phospholipase D4	Choline(DB00122)						83.0	88.0	86.0					14																	105396392		2087	4219	6306	SO:0001583	missense	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105396392C>G		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.667C>G	14.37:g.105396392C>G	ENSP00000376372:p.Arg223Gly					PLD4_uc010tyl.1_Missense_Mutation_p.R230G	p.R223G	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		6	808	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	223			PLD phosphodiesterase 1.		Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	c.667C>G	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319541	0.41096	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.22539	2.46;2.46;1.95	3.87	1.78	0.24846	Phospholipase D/Transphosphatidylase (3);	0.155822	0.40908	D	0.000990	T	0.19725	0.0474	L	0.52759	1.655	0.46185	D	0.998915	P;P	0.41041	0.736;0.618	B;B	0.42282	0.365;0.382	T	0.02190	-1.1198	10	0.54805	T	0.06	-15.2049	7.4755	0.27374	0.4105:0.4636:0.1259:0.0	.	230;223	F5H2B5;Q96BZ4	.;PLD4_HUMAN	G	230;223;221	ENSP00000438677:R230G;ENSP00000376372:R223G;ENSP00000451278:R221G	ENSP00000376372:R223G	R	+	1	2	PLD4	104467437	0.001000	0.12720	0.021000	0.16686	0.596000	0.36781	1.497000	0.35649	0.703000	0.31848	0.561000	0.74099	CGG		PASS	0.602	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		22	50	22	50	---	---	---	---
BRF1	2972	broad.mit.edu	37	14	105692499	105692499	+	Splice_Site	SNP	C	C	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr14:105692499C>A	ENST00000546474.1	-	10	15915		c.e10-1		BRF1_ENST00000440513.3_Splice_Site|BRF1_ENST00000551787.1_Splice_Site|BRF1_ENST00000379937.2_Splice_Site|BRF1_ENST00000392557.4_Splice_Site|BRF1_ENST00000379932.4_Splice_Site|BRF1_ENST00000446501.2_Splice_Site|BRF1_ENST00000327359.3_Splice_Site	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit						gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GATATTTCACCTGAAGTCATA	0.438																																						uc001yqp.2																			2	Unknown(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.e10-1		transcription initiation factor IIIB isoform 1							101.0	107.0	105.0					14																	105692499		2203	4300	6503	SO:0001630	splice_region_variant	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105692499C>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.956-1G>T	14.37:g.105692499C>A						BRF1_uc010tyo.1_Splice_Site_p.G204_splice|BRF1_uc010typ.1_Splice_Site_p.G204_splice|BRF1_uc001yql.2_Splice_Site_p.G115_splice|BRF1_uc001yqo.2_Splice_Site_p.G81_splice|BRF1_uc010axg.1_Splice_Site_p.G292_splice|BRF1_uc001yqn.2_Splice_Site|BRF1_uc010axh.1_Splice_Site	p.G319_splice	NM_001519	NP_001510	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	10	1319	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)						B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Splice_Site	SNP	ENST00000546474.1	37	c.956_splice	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658070	0.47467	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000446501;ENST00000551787;ENST00000379932;ENST00000327359;ENST00000440513;ENST00000547562;ENST00000549655;ENST00000552127;ENST00000546417	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9195	0.86160	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRF1	104763544	1.000000	0.71417	0.958000	0.39756	0.354000	0.29330	7.365000	0.79537	2.582000	0.87167	0.650000	0.86243	.		PASS	0.438	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519	Intron	5	94	5	94	---	---	---	---
UBE2Q2	92912	broad.mit.edu	37	15	76152255	76152255	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr15:76152255T>C	ENST00000267938.4	+	3	701	c.319T>C	c.(319-321)Tgc>Cgc	p.C107R	UBE2Q2_ENST00000561851.1_Missense_Mutation_p.C91R|UBE2Q2_ENST00000569423.1_Intron|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.C107R	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	107					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.C107R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						ATGTGAACTCTGCAGTTTATA	0.378																																						uc002bbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(319-321)TGC>CGC		ubiquitin-conjugating enzyme E2Q 2 isoform 1							93.0	80.0	85.0					15																	76152255		2197	4294	6491	SO:0001583	missense	92912				protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity	g.chr15:76152255T>C	BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.319T>C	15.37:g.76152255T>C	ENSP00000267938:p.Cys107Arg					UBE2Q2_uc002bbh.2_Intron|UBE2Q2_uc010umn.1_Missense_Mutation_p.C91R|UBE2Q2_uc002bbi.2_5'UTR	p.C107R	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN			3	705	+			107					B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Missense_Mutation	SNP	ENST00000267938.4	37	c.319T>C	CCDS10286.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160838	0.78226	.	.	ENSG00000140367	ENST00000338677;ENST00000267938;ENST00000426727	.	.	.	5.17	5.17	0.71159	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.984;0.996	D	0.83722	0.0193	9	0.87932	D	0	.	12.9562	0.58430	0.0:0.0:0.0:1.0	.	91;107	E9PHD0;Q8WVN8	.;UB2Q2_HUMAN	R	107;107;91	.	ENSP00000267938:C107R	C	+	1	0	UBE2Q2	73939310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.785000	0.75089	1.968000	0.57251	0.519000	0.50382	TGC		PASS	0.378	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469		7	13	7	13	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93536215	93536215	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr15:93536215A>T	ENST00000394196.4	+	28	4650	c.3582A>T	c.(3580-3582)gaA>gaT	p.E1194D	CHD2_ENST00000557381.1_Missense_Mutation_p.E1194D	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1194					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.E1194D(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGCTGAAAGAAAATGCCAGCG	0.502																																						uc002bsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3580-3582)GAA>GAT		chromodomain helicase DNA binding protein 2							99.0	84.0	89.0					15																	93536215		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93536215A>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3582A>T	15.37:g.93536215A>T	ENSP00000377747:p.Glu1194Asp					CHD2_uc002bso.1_Missense_Mutation_p.E1194D	p.E1194D	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		28	4157	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1194					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3582A>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	14.60	2.585309	0.46110	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.79554	-1.28;-1.28	6.05	-0.0525	0.13822	.	0.000000	0.35067	U	0.003472	T	0.67154	0.2863	L	0.42686	1.345	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.12156	0.004;0.007	T	0.50550	-0.8815	10	0.25751	T	0.34	-13.8968	5.986	0.19434	0.5626:0.0:0.3234:0.114	.	1194;1194	O14647;O14647-2	CHD2_HUMAN;.	D	1194	ENSP00000377747:E1194D;ENSP00000451366:E1194D	ENSP00000377747:E1194D	E	+	3	2	CHD2	91337219	1.000000	0.71417	0.936000	0.37596	0.989000	0.77384	1.801000	0.38843	-0.036000	0.13669	-0.274000	0.10170	GAA		PASS	0.502	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		17	26	17	26	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3808000	3808000	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr16:3808000C>T	ENST00000262367.5	-	18	4228	c.3419G>A	c.(3418-3420)cGg>cAg	p.R1140Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1102Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1140	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with histone. {ECO:0000269|PubMed:24361270}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1140Q(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCCAGCTTCCGCTTGATGGT	0.463			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(3418-3420)CGG>CAG		CREB binding protein isoform a							105.0	90.0	95.0					16																	3808000		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3808000C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3419G>A	16.37:g.3808000C>T	ENSP00000262367:p.Arg1140Gln					CREBBP_uc002cvw.2_Missense_Mutation_p.R1102Q	p.R1140Q	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	18	3623	-		Ovarian(90;0.0266)	1140			Bromo.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3419G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920451	0.73098	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.27402	1.67;1.67	5.74	5.74	0.90152	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000002	T	0.45256	0.1333	N	0.21194	0.64	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.80764	0.994;0.985	T	0.44651	-0.9314	10	0.72032	D	0.01	-27.6125	19.9122	0.97029	0.0:1.0:0.0:0.0	.	1170;1140	Q4LE28;Q92793	.;CBP_HUMAN	Q	1140;1170;1102	ENSP00000262367:R1140Q;ENSP00000371502:R1102Q	ENSP00000262367:R1140Q	R	-	2	0	CREBBP	3748001	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.713000	0.84693	2.712000	0.92718	0.585000	0.79938	CGG		PASS	0.463	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		23	27	23	27	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70896017	70896017	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr16:70896017A>G	ENST00000393567.2	-	69	11861	c.11711T>C	c.(11710-11712)aTt>aCt	p.I3904T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3904					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I3903T(1)|p.I3855T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAACTTCTGAATCTTCCCCAC	0.547																																						uc002ezr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(11707-11709)ATT>ACT		hydrocephalus inducing isoform a							48.0	47.0	47.0					16																	70896017		1894	4104	5998	SO:0001583	missense	54768							g.chr16:70896017A>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11711T>C	16.37:g.70896017A>G	ENSP00000377197:p.Ile3904Thr					HYDIN_uc010cfy.2_RNA	p.I3903T	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			69	11836	-		Ovarian(137;0.0654)	3904					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11708T>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	a	0.118	-1.129168	0.01756	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00730	5.77	5.97	-1.53	0.08611	.	1.543970	0.05013	N	0.471304	T	0.00271	0.0008	N	0.00230	-1.795	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.45026	-0.9289	10	0.09843	T	0.71	.	2.0035	0.03472	0.1638:0.3644:0.2198:0.252	.	3903	F8WD23	.	T	3904;3903	ENSP00000377197:I3904T	ENSP00000313052:I3903T	I	-	2	0	HYDIN	69453518	0.000000	0.05858	0.004000	0.12327	0.028000	0.11728	-0.211000	0.09332	-0.179000	0.10654	-0.304000	0.09214	ATT		PASS	0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			6	16	6	16	---	---	---	---
DNAAF1	123872	broad.mit.edu	37	16	84193349	84193349	+	Nonsense_Mutation	SNP	C	C	T	rs267607225		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr16:84193349C>T	ENST00000378553.5	+	6	935	c.811C>T	c.(811-813)Cga>Tga	p.R271*	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Nonsense_Mutation_p.R271*	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	271	LRRCT.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|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 involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.R271*(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGTCACTGTACGACTAAAGCA	0.388																																						uc002fhl.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(811-813)CGA>TGA		leucine rich repeat containing 50							124.0	106.0	113.0					16																	84193349		2200	4300	6500	SO:0001587	stop_gained	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84193349C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.811C>T	16.37:g.84193349C>T	ENSP00000367815:p.Arg271*					LRRC50_uc010chi.1_RNA|LRRC50_uc010vnw.1_Nonsense_Mutation_p.R19*	p.R271*	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			6	992	+			271			LRRCT.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Nonsense_Mutation	SNP	ENST00000378553.5	37	c.811C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382171	0.82792	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	.	.	.	5.07	4.11	0.48088	.	0.154464	0.44688	D	0.000429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5974	12.8953	0.58095	0.0:0.9217:0.0:0.0783	.	.	.	.	X	271	.	ENSP00000334593:R271X	R	+	1	2	DNAAF1	82750850	0.995000	0.38212	0.156000	0.22583	0.445000	0.32107	4.362000	0.59467	2.352000	0.79861	0.650000	0.86243	CGA		PASS	0.388	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		24	41	24	41	---	---	---	---
C17orf97	400566	broad.mit.edu	37	17	263352	263352	+	Missense_Mutation	SNP	G	G	A	rs199591690		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:263352G>A	ENST00000360127.6	+	2	734	c.718G>A	c.(718-720)Gag>Aag	p.E240K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	270	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.			E -> D (in Ref. 3; AAH57385). {ECO:0000305}.				p.E240K(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCGAGGCCCTCAA	0.726																																						uc002frh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(748-750)GAG>AAG		hypothetical protein LOC400566							7.0	12.0	10.0					17																	263352		2007	4034	6041	SO:0001583	missense	400566							g.chr17:263352G>A	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.718G>A	17.37:g.263352G>A	ENSP00000353245:p.Glu240Lys					C17orf97_uc010vpz.1_RNA	p.E250K	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN			3	764	+			270			7.|20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.748G>A	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	G	1.898	-0.453843	0.04540	.	.	ENSG00000187624	ENST00000360127	T	0.32753	1.44	0.588	-1.18	0.09617	.	.	.	.	.	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	B	0.27853	0.191	B	0.15052	0.012	T	0.26916	-1.0089	9	0.08599	T	0.76	.	1.4241	0.02319	0.316:0.0:0.3387:0.3453	.	240	Q6ZQX7-4	.	K	240	ENSP00000353245:E240K	ENSP00000353245:E240K	E	+	1	0	C17orf97	263698	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.038000	0.13862	-0.583000	0.05921	0.195000	0.17529	GAG		PASS	0.726	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		4	1	4	1	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655|rs397516437		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:7577556C>A	ENST00000269305.4	-	7	914	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000420246.2_Missense_Mutation_p.C242F|TP53_ENST00000455263.2_Missense_Mutation_p.C242F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCGCCCATGCAGGAACTGTT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		175	Substitution - Missense(150)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(5)|Deletion - Frameshift(4)|Complex - deletion inframe(1)	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)	lung(35)|upper_aerodigestive_tract(22)|liver(16)|oesophagus(15)|large_intestine(13)|breast(12)|central_nervous_system(11)|ovary(11)|urinary_tract(9)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|bone(5)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)|pancreas(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM910618	TP53	M	rs121912655	c.(724-726)TGC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							140.0	107.0	119.0					17																	7577556		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577556C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.725G>T	17.37:g.7577556C>A	ENSP00000269305:p.Cys242Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F	p.C242F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	919	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.725G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366336	0.82463	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99915	-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	M	0.92784	3.345	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	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95727	0.8771	10	0.87932	D	0	-27.558	15.3618	0.74483	0.0:1.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242F;ENSP00000352610:C242F;ENSP00000269305:C242F;ENSP00000398846:C242F;ENSP00000391127:C242F;ENSP00000391478:C242F;ENSP00000425104:C110F;ENSP00000423862:C149F	ENSP00000269305:C242F	C	-	2	0	TP53	7518281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	TGC		PASS	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		59	21	59	21	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10307778	10307778	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:10307778C>T	ENST00000403437.2	-	22	2651	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	853					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.A853T(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCATGGTGGCCATCTCTTTC	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(2557-2559)GCC>ACC		myosin, heavy chain 8, skeletal muscle,							154.0	146.0	149.0					17																	10307778		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10307778C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2557G>A	17.37:g.10307778C>T	ENSP00000384330:p.Ala853Thr					uc002gml.1_Intron	p.A853T	NM_002472	NP_002463	P13535	MYH8_HUMAN			22	2652	-			853			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2557G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557172	0.65425	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.94000	-3.33	5.31	4.34	0.51931	.	0.000000	0.41396	U	0.000883	D	0.92877	0.7734	M	0.87180	2.865	0.41007	D	0.984971	B	0.31077	0.307	B	0.28991	0.097	D	0.92492	0.6001	10	0.72032	D	0.01	.	9.9604	0.41693	0.0:0.7903:0.1372:0.0724	.	853	P13535	MYH8_HUMAN	T	853	ENSP00000384330:A853T	ENSP00000252173:A853T	A	-	1	0	MYH8	10248503	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.071000	0.50041	1.479000	0.48272	0.655000	0.94253	GCC		PASS	0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		12	30	12	30	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21318712	21318712	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:21318712C>A	ENST00000583088.1	+	3	953	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.L20M	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	20					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.L20M(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGAGGACGGGCTGCACCTGGT	0.687										Prostate(3;0.18)																												uc002gyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(58-60)CTG>ATG		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						67.0	61.0	63.0					17																	21318712		2202	4299	6501	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318712C>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.58C>A	17.37:g.21318712C>A	ENSP00000463778:p.Leu20Met	Prostate(3;0.18)					p.L20M	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	763	+			20			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.58C>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	6.650	0.488407	0.12641	.	.	ENSG00000184185	ENST00000331718	T	0.39997	1.05	5.33	1.95	0.26073	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.27454	0.0674	L	0.35723	1.085	0.45899	D	0.998746	B	0.32283	0.362	B	0.30029	0.11	T	0.04090	-1.0978	10	0.17832	T	0.49	.	9.4451	0.38693	0.0:0.652:0.0:0.348	.	20	Q14500	IRK12_HUMAN	M	20	ENSP00000328150:L20M	ENSP00000328150:L20M	L	+	1	2	KCNJ12	21259305	0.978000	0.34361	1.000000	0.80357	0.994000	0.84299	0.955000	0.29188	0.633000	0.30452	0.591000	0.81541	CTG		PASS	0.687	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		5	35	5	35	---	---	---	---
NEK8	284086	broad.mit.edu	37	17	27062332	27062332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:27062332G>A	ENST00000268766.6	+	4	595	c.561G>A	c.(559-561)tgG>tgA	p.W187*	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.W187*(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GTGACATCTGGGCCCTGGGCT	0.577																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2																			1	Substitution - Nonsense(1)		lung(1)	stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(559-561)TGG>TGA		NIMA-related kinase 8							59.0	54.0	55.0					17																	27062332		2203	4300	6503	SO:0001587	stop_gained	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27062332G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.561G>A	17.37:g.27062332G>A	ENSP00000268766:p.Trp187*						p.W187*	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			4	561	+	Lung NSC(42;0.0158)		187			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Nonsense_Mutation	SNP	ENST00000268766.6	37	c.561G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439909	0.83885	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	.	.	.	5.73	5.73	0.89815	.	0.057662	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8895	0.92392	0.0:0.0:1.0:0.0	.	.	.	.	X	187	.	ENSP00000268766:W187X	W	+	3	0	NEK8	24086459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.622000	0.98378	2.704000	0.92352	0.549000	0.68633	TGG		PASS	0.577	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			9	24	9	24	---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	30965835	30965835	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:30965835C>A	ENST00000318217.5	-	20	2918	c.2614G>T	c.(2614-2616)Gtg>Ttg	p.V872L	MYO1D_ENST00000579584.1_Missense_Mutation_p.V872L|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Missense_Mutation_p.V784L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	872	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.V872L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTGTCTTCCACCTTACTAAAT	0.358																																						uc002hho.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2614-2616)GTG>TTG		myosin ID							158.0	147.0	151.0					17																	30965835		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30965835C>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2614G>T	17.37:g.30965835C>A	ENSP00000324527:p.Val872Leu					MYO1D_uc002hhp.1_Missense_Mutation_p.V872L	p.V872L	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		20	2626	-			872					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2614G>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571061	0.45798	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	T	0.36157	1.27	5.79	5.79	0.91817	Myosin tail 2 (1);	0.000000	0.35646	U	0.003063	T	0.32315	0.0825	L	0.36672	1.1	0.80722	D	1	B;B	0.20164	0.042;0.042	B;B	0.21151	0.033;0.033	T	0.03673	-1.1014	10	0.29301	T	0.29	.	17.5252	0.87798	0.0:1.0:0.0:0.0	.	783;872	Q7Z3N6;O94832	.;MYO1D_HUMAN	L	872;64	ENSP00000324527:V872L	ENSP00000324527:V872L	V	-	1	0	MYO1D	27989948	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.257000	0.51500	2.746000	0.94184	0.655000	0.94253	GTG		PASS	0.358	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			5	11	5	11	---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33690215	33690215	+	Silent	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:33690215G>A	ENST00000394566.1	-	4	884	c.612C>T	c.(610-612)atC>atT	p.I204I	SLFN11_ENST00000308377.4_Silent_p.I204I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	204					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.I204I(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAAAGGCAGGATTTCACCAT	0.413																																						uc010ctp.2																			2	Substitution - coding silent(2)		prostate(1)|lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(610-612)ATC>ATT		schlafen family member 11							123.0	126.0	125.0					17																	33690215		2203	4300	6503	SO:0001819	synonymous_variant	91607					nucleus	ATP binding	g.chr17:33690215G>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.612C>T	17.37:g.33690215G>A						SLFN11_uc010ctq.2_Silent_p.I204I|SLFN11_uc002hjh.3_Silent_p.I204I|SLFN11_uc002hjg.3_Silent_p.I204I|SLFN11_uc010ctr.2_Silent_p.I204I	p.I204I	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1054	-		Ovarian(249;0.17)	204					E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	c.612C>T	CCDS11294.1																																																																																				PASS	0.413	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		18	44	18	44	---	---	---	---
AOC2	314	broad.mit.edu	37	17	40997603	40997603	+	Silent	SNP	A	A	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:40997603A>G	ENST00000253799.3	+	1	987	c.960A>G	c.(958-960)caA>caG	p.Q320Q	AOC2_ENST00000452774.2_Silent_p.Q320Q	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	320					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.Q320Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACAGTGTGCAAGGAAACCTGG	0.547																																						uc002ibu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(958-960)CAA>CAG		amine oxidase, copper containing 2 isoform b							112.0	110.0	111.0					17																	40997603		2203	4300	6503	SO:0001819	synonymous_variant	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997603A>G	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.960A>G	17.37:g.40997603A>G						AOC2_uc002ibt.2_Silent_p.Q320Q	p.Q320Q	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	995	+		Breast(137;0.000143)	320					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	ENST00000253799.3	37	c.960A>G	CCDS11443.1																																																																																				PASS	0.547	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		45	58	45	58	---	---	---	---
GJC1	10052	broad.mit.edu	37	17	42882110	42882110	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:42882110T>C	ENST00000426548.1	-	3	1345	c.1076A>G	c.(1075-1077)cAa>cGa	p.Q359R	GJC1_ENST00000592524.1_Missense_Mutation_p.Q359R|GJC1_ENST00000330514.4_Missense_Mutation_p.Q359R|GJC1_ENST00000590758.1_Missense_Mutation_p.Q359R	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	359					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)	p.Q359R(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AGGGTTGTTTTGGTGACTGTA	0.572																																						uc002ihj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1075-1077)CAA>CGA		connexin 45							173.0	157.0	162.0					17																	42882110		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882110T>C	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.1076A>G	17.37:g.42882110T>C	ENSP00000411528:p.Gln359Arg					GJC1_uc002ihk.2_Missense_Mutation_p.Q359R|GJC1_uc002ihl.2_Missense_Mutation_p.Q359R|GJC1_uc010czx.2_Missense_Mutation_p.Q359R|GJC1_uc010czy.1_Missense_Mutation_p.Q220R	p.Q359R	NM_005497	NP_005488	P36383	CXG1_HUMAN			2	1587	-		Prostate(33;0.0959)	359			Cytoplasmic (Potential).		B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.1076A>G	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.318308	0.40996	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97959	-4.63;-4.63	5.48	5.48	0.80851	.	0.583187	0.17970	N	0.155908	D	0.94968	0.8372	L	0.36672	1.1	0.58432	D	0.999997	B	0.25850	0.136	B	0.24006	0.05	D	0.93075	0.6486	10	0.22706	T	0.39	.	14.7407	0.69451	0.0:0.0:0.0:1.0	.	359	P36383	CXG1_HUMAN	R	359	ENSP00000411528:Q359R;ENSP00000333193:Q359R	ENSP00000333193:Q359R	Q	-	2	0	GJC1	40237636	0.992000	0.36948	1.000000	0.80357	0.913000	0.54294	4.681000	0.61663	2.077000	0.62373	0.533000	0.62120	CAA		PASS	0.572	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		41	45	41	45	---	---	---	---
STH	246744	broad.mit.edu	37	17	44076726	44076726	+	Silent	SNP	C	C	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:44076726C>T	ENST00000537309.1	+	1	111	c.81C>T	c.(79-81)tgC>tgT	p.C27C	MAPT_ENST00000344290.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000570299.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	27						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.C27C(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						tcattgaatgCGGGGTTAATT	0.547																																						uc002ijy.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)		0						c.(79-81)TGC>TGT		saitohin							79.0	78.0	79.0					17																	44076726		1947	4140	6087	SO:0001819	synonymous_variant	246744					cytoplasm|nucleus		g.chr17:44076726C>T	AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.81C>T	17.37:g.44076726C>T						MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.C27C	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN			1	111	+			27					A1L3X7	Silent	SNP	ENST00000537309.1	37	c.81C>T	CCDS54136.1																																																																																				PASS	0.547	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1			7	74	7	74	---	---	---	---
SRSF1	6426	broad.mit.edu	37	17	56083253	56083253	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:56083253C>A	ENST00000258962.4	-	3	669	c.461G>T	c.(460-462)cGa>cTa	p.R154L	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.R154L|SRSF1_ENST00000584773.1_Missense_Mutation_p.R154L	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	154	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R154L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGTGCCATCTCGGTAAACATC	0.413																																						uc002ivi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)CGA>CTA		splicing factor, arginine/serine-rich 1 isoform							133.0	108.0	116.0					17																	56083253		2203	4300	6503	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083253C>A		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.461G>T	17.37:g.56083253C>A	ENSP00000258962:p.Arg154Leu					SFRS1_uc002ivj.2_Missense_Mutation_p.R154L	p.R154L	NM_006924	NP_008855	Q07955	SRSF1_HUMAN		LUAD - Lung adenocarcinoma(1115;0.247)	3	670	-		Colorectal(1115;0.0691)	154			RRM 2.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.461G>T	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127931	0.56721	.	.	ENSG00000136450	ENST00000258962	T	0.06449	3.3	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.60067	1.865	0.80722	D	1	P;P	0.51147	0.942;0.899	P;P	0.59115	0.852;0.752	T	0.00008	-1.2472	10	0.87932	D	0	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	186;154	Q59FA2;Q07955	.;SRSF1_HUMAN	L	154	ENSP00000258962:R154L	ENSP00000258962:R154L	R	-	2	0	SRSF1	53438252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.410000	0.80065	2.827000	0.97445	0.650000	0.86243	CGA		PASS	0.413	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		4	65	4	65	---	---	---	---
IMPACT	55364	broad.mit.edu	37	18	22007976	22007976	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr18:22007976G>C	ENST00000284202.4	+	2	271	c.130G>C	c.(130-132)Gat>Cat	p.D44H	Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	44	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)		p.D44H(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AATTAGCGACGATATAGATGA	0.408																																						uc002kvh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)GAT>CAT		Impact homolog							185.0	186.0	185.0					18																	22007976		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22007976G>C	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.130G>C	18.37:g.22007976G>C	ENSP00000284202:p.Asp44His					IMPACT_uc002kvg.3_Missense_Mutation_p.D26H	p.D44H	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN			2	242	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		44			RWD.		A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.130G>C	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289329	0.23478	.	.	ENSG00000154059	ENST00000284202	T	0.21543	2.0	5.17	1.63	0.23807	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	1.078760	0.06946	N	0.813782	T	0.28896	0.0717	L	0.52011	1.625	0.24896	N	0.992132	D	0.62365	0.991	P	0.62184	0.899	T	0.26883	-1.0090	10	0.13853	T	0.58	.	1.4124	0.02294	0.1364:0.1577:0.2358:0.4701	.	44	Q9P2X3	IMPCT_HUMAN	H	44	ENSP00000284202:D44H	ENSP00000284202:D44H	D	+	1	0	IMPACT	20261974	0.988000	0.35896	0.995000	0.50966	0.990000	0.78478	1.014000	0.29950	0.511000	0.28236	0.455000	0.32223	GAT		PASS	0.408	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		38	86	38	86	---	---	---	---
MED16	10025	broad.mit.edu	37	19	879947	879947	+	Missense_Mutation	SNP	C	C	T	rs200085016	byFrequency	TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:879947C>T	ENST00000589119.1	-	7	1342	c.1343G>A	c.(1342-1344)aGc>aAc	p.S448N	MED16_ENST00000325464.1_Missense_Mutation_p.S448N|MED16_ENST00000395808.3_Missense_Mutation_p.S448N|MED16_ENST00000269814.4_Missense_Mutation_p.S448N|MED16_ENST00000312090.6_Missense_Mutation_p.S448N|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	448					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S448N(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		CTTCCCGTGGCTGTCAATCCC	0.667													T|||	6	0.00119808	0.003	0.0	5008	,	,		14656	0.0		0.0	False		,,,				2504	0.002					uc002lqd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1342-1344)AGC>AAC		mediator complex subunit 16							13.0	12.0	12.0					19																	879947		2156	4256	6412	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:879947C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1343G>A	19.37:g.879947C>T	ENSP00000464810:p.Ser448Asn					MED16_uc010drw.1_Missense_Mutation_p.S273N|MED16_uc002lqe.2_Missense_Mutation_p.S437N|MED16_uc002lqf.2_Missense_Mutation_p.S437N|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.S437N|MED16_uc010xfx.1_Missense_Mutation_p.S293N|MED16_uc010xfy.1_Intron	p.S448N	NM_005481	NP_005472	Q9Y2X0	MED16_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)	8	1494	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	448					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1343G>A	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.912492	0.00508	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.21	3.18	0.36537	WD40 repeat-like-containing domain (1);	0.114163	0.64402	N	0.000019	T	0.18299	0.0439	N	0.12961	0.28	0.21802	N	0.999537	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.30909	-0.9962	10	0.06494	T	0.89	-17.3318	4.2026	0.10473	0.0:0.3061:0.1749:0.519	.	448;448;448;448;448	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	N	448;448;448;448;448;304;209;207;448	ENSP00000325612:S448N;ENSP00000308528:S448N;ENSP00000379153:S448N;ENSP00000269814:S448N	ENSP00000269814:S448N	S	-	2	0	MED16	830947	0.999000	0.42202	0.989000	0.46669	0.059000	0.15707	0.492000	0.22435	0.062000	0.16340	-0.442000	0.05670	AGC		PASS	0.667	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		3	26	3	26	---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4929420	4929420	+	RNA	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:4929420G>T	ENST00000592666.1	+	0	916							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A127S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CGGTGAGGCGGCCGCCGAGAC	0.652																																						uc002mbo.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(340-342)GCC>TCC		ubiquitin-like with PHD and ring finger domains							27.0	35.0	32.0					19																	4929420		2143	4254	6397			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4929420G>T	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4929420G>T						UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.A127S	p.A114S	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	3	508	+			114					A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Missense_Mutation	SNP	ENST00000592666.1	37	c.340G>T		.	.	.	.	.	.	.	.	.	.	G	3.524	-0.097158	0.07010	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.29	2.05	0.26809	.	0.612817	0.17193	N	0.183403	T	0.39733	0.1089	M	0.61703	1.905	0.32296	N	0.565687	B;B	0.25772	0.134;0.102	B;B	0.20184	0.018;0.028	T	0.39663	-0.9603	8	0.06625	T	0.88	-11.578	6.2748	0.20975	0.1672:0.0:0.6842:0.1486	.	127;114	Q2HIX7;Q96T88	.;UHRF1_HUMAN	S	114;114;114;127	.	ENSP00000262952:A114S	A	+	1	0	UHRF1	4880420	0.863000	0.29885	0.023000	0.16930	0.022000	0.10575	2.421000	0.44688	0.891000	0.36235	0.561000	0.74099	GCC		PASS	0.652	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		26	20	26	20	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10270421	10270421	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:10270421G>C	ENST00000340748.4	-	16	1380	c.1145C>G	c.(1144-1146)aCa>aGa	p.T382R	DNMT1_ENST00000540357.1_Missense_Mutation_p.T382R|DNMT1_ENST00000359526.4_Missense_Mutation_p.T398R			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	382	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T382R(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTTCTCATTTGTCAGCATCTG	0.547																																						uc002mng.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(1144-1146)ACA>AGA		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						173.0	152.0	159.0					19																	10270421		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10270421G>C	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1145C>G	19.37:g.10270421G>C	ENSP00000345739:p.Thr382Arg					DNMT1_uc010xlc.1_Missense_Mutation_p.T398R|DNMT1_uc002mnh.2_Missense_Mutation_p.T277R|DNMT1_uc010xld.1_Missense_Mutation_p.T382R	p.T382R	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		16	1325	-			382			DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.1145C>G	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035427	0.75617	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.25912	1.78;1.77;1.78	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.70595	2.14	0.80722	D	1	P;P;P	0.44877	0.821;0.845;0.554	P;P;B	0.50490	0.642;0.564;0.361	T	0.40869	-0.9540	10	0.87932	D	0	-27.9017	17.3768	0.87394	0.0:0.0:1.0:0.0	.	382;398;382	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	R	398;382;382;250	ENSP00000352516:T398R;ENSP00000440457:T382R;ENSP00000345739:T382R	ENSP00000345739:T382R	T	-	2	0	DNMT1	10131421	1.000000	0.71417	0.922000	0.36590	0.911000	0.54048	7.619000	0.83057	2.643000	0.89663	0.455000	0.32223	ACA		PASS	0.547	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		6	134	6	134	---	---	---	---
HOOK2	29911	broad.mit.edu	37	19	12874185	12874185	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:12874185G>T	ENST00000397668.3	-	23	2144	c.2071C>A	c.(2071-2073)Ctg>Atg	p.L691M	HOOK2_ENST00000264827.5_Missense_Mutation_p.L689M|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	691	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.L691M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGCTGTGCCAGGAATGACTGG	0.637																																						uc002muy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2071-2073)CTG>ATG		hook homolog 2 isoform 1							48.0	56.0	53.0					19																	12874185		2053	4175	6228	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12874185G>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.2071C>A	19.37:g.12874185G>T	ENSP00000380785:p.Leu691Met					HOOK2_uc010xmq.1_Missense_Mutation_p.L96M|HOOK2_uc002muz.2_Missense_Mutation_p.L689M	p.L691M	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			23	2242	-			691			Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.2071C>A	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959009	0.74016	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.37584	1.19;1.19	5.32	3.11	0.35812	.	0.000000	0.64402	D	0.000002	T	0.57095	0.2030	M	0.76938	2.355	0.40291	D	0.978507	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61476	-0.7055	10	0.62326	D	0.03	-16.8758	9.9028	0.41357	0.2299:0.0:0.7701:0.0	.	689;691	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	M	691;689	ENSP00000380785:L691M;ENSP00000264827:L689M	ENSP00000264827:L689M	L	-	1	2	HOOK2	12735185	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.647000	0.54403	1.217000	0.43442	0.655000	0.94253	CTG		PASS	0.637	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		5	51	5	51	---	---	---	---
PDE4C	5143	broad.mit.edu	37	19	18333041	18333041	+	Missense_Mutation	SNP	G	G	A	rs553070308		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:18333041G>A	ENST00000355502.3	-	6	1206	c.335C>T	c.(334-336)cCg>cTg	p.P112L	PDE4C_ENST00000539010.1_5'Flank|PDE4C_ENST00000594617.3_Missense_Mutation_p.P112L|PDE4C_ENST00000447275.3_Missense_Mutation_p.P6L|PDE4C_ENST00000594465.3_Missense_Mutation_p.P112L|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000597297.1_5'Flank|PDE4C_ENST00000262805.12_Missense_Mutation_p.P80L			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	112					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.P112L(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTGGCTGTGCGGGACTGGAGC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17924	0.0		0.0	False		,,,				2504	0.0					uc010xqc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(334-336)CCG>CTG		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						50.0	48.0	49.0					19																	18333041		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18333041G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.335C>T	19.37:g.18333041G>A	ENSP00000347689:p.Pro112Leu					PDE4C_uc002nik.3_Missense_Mutation_p.P112L|PDE4C_uc002nil.3_Missense_Mutation_p.P112L|PDE4C_uc002nif.3_5'Flank|PDE4C_uc002nig.3_5'Flank|PDE4C_uc002nih.3_5'Flank|PDE4C_uc010ebk.2_Missense_Mutation_p.P6L|PDE4C_uc002nii.3_Missense_Mutation_p.P80L|PDE4C_uc010ebl.2_5'UTR|PDE4C_uc010xqd.1_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.P112L	p.P112L	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			2	815	-			112					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.335C>T	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	7.355	0.623762	0.14193	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.71222	1.0;-0.55;-0.4	4.35	0.781	0.18561	.	0.275206	0.35903	N	0.002909	T	0.57227	0.2039	L	0.47716	1.5	0.31116	N	0.709444	B;P;B	0.34724	0.037;0.465;0.278	B;B;B	0.33042	0.075;0.054;0.157	T	0.55354	-0.8154	10	0.10111	T	0.7	.	12.4856	0.55871	0.0:0.0:0.7326:0.2674	.	221;112;80	B7Z2S3;Q08493;Q08493-3	.;PDE4C_HUMAN;.	L	191;112;100;80;6;221	ENSP00000347689:P112L;ENSP00000262805:P80L;ENSP00000402091:P6L	ENSP00000262805:P80L	P	-	2	0	PDE4C	18194041	0.909000	0.30893	0.000000	0.03702	0.030000	0.12068	1.695000	0.37763	-0.138000	0.11434	-0.861000	0.03010	CCG		PASS	0.627	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			12	27	12	27	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38989785	38989785	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:38989785G>T	ENST00000359596.3	+	43	6929	c.6929G>T	c.(6928-6930)tGc>tTc	p.C2310F	RYR1_ENST00000360985.3_Missense_Mutation_p.C2310F|RYR1_ENST00000355481.4_Missense_Mutation_p.C2310F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2310	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.C2310F(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)	CTCCAGAGCTGCCCCATGCTT	0.622																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(6928-6930)TGC>TTC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						74.0	57.0	63.0					19																	38989785		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38989785G>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.6929G>T	19.37:g.38989785G>T	ENSP00000352608:p.Cys2310Phe					RYR1_uc002oiu.2_Missense_Mutation_p.C2310F|RYR1_uc002oiv.1_5'UTR	p.C2310F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		43	7059	+	all_cancers(60;7.91e-06)		2310			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.6929G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734774	0.48939	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95272	-3.66;-3.66;-3.66	4.11	4.11	0.48088	Intracellular calcium-release channel (1);	0.000000	0.85682	U	0.000000	D	0.96128	0.8738	L	0.54323	1.7	0.58432	D	0.999996	D;P	0.69078	0.997;0.936	D;P	0.80764	0.994;0.459	D	0.96550	0.9407	10	0.62326	D	0.03	.	16.1112	0.81263	0.0:0.0:1.0:0.0	.	2310;2310	P21817-2;P21817	.;RYR1_HUMAN	F	2310	ENSP00000352608:C2310F;ENSP00000347667:C2310F;ENSP00000354254:C2310F	ENSP00000347667:C2310F	C	+	2	0	RYR1	43681625	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.657000	0.98554	2.123000	0.65237	0.313000	0.20887	TGC		PASS	0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			19	42	19	42	---	---	---	---
BBC3	27113	broad.mit.edu	37	19	47725088	47725088	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:47725088G>A	ENST00000439096.2	-	4	833	c.553C>T	c.(553-555)Cac>Tac	p.H185Y	BBC3_ENST00000449228.1_Missense_Mutation_p.P219L|BBC3_ENST00000341983.4_Missense_Mutation_p.H123Y|BBC3_ENST00000300880.7_Missense_Mutation_p.P59L	NM_014417.4	NP_055232.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3	185					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|determination of adult lifespan (GO:0008340)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of growth (GO:0045926)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|release of cytochrome c from mitochondria (GO:0001836)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.H185Y(1)|p.P219L(1)		endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		GGGGCTCTGTGGCCCCTGGGT	0.667																																						uc002pgf.3																			2	Substitution - Missense(2)		lung(2)		0						c.(553-555)CAC>TAC		BCL2 binding component 3 isoform 4							41.0	41.0	41.0					19																	47725088		2203	4300	6503	SO:0001583	missense	27113				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding|protein binding	g.chr19:47725088G>A	AF332558	CCDS12697.1, CCDS46128.1, CCDS46129.1, CCDS46130.1	19q13.3-q13.4	2014-03-07							17868	protein-coding gene	gene with protein product		605854				11463392, 11572983	Standard	NM_001127240		Approved	JFY1, PUMA	uc002pgf.4	Q96PG8		ENST00000439096.2:c.553C>T	19.37:g.47725088G>A	ENSP00000395862:p.His185Tyr					BBC3_uc010xyl.1_Missense_Mutation_p.P219L|BBC3_uc010eky.2_Missense_Mutation_p.H123Y|BBC3_uc010ekz.2_Missense_Mutation_p.P59L	p.H185Y	NM_014417	NP_055232	Q9BXH1	BBC3_HUMAN		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)	4	834	-		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	185					B9EGI3|O00171|Q96PG9	Missense_Mutation	SNP	ENST00000439096.2	37	c.553C>T	CCDS12697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.04|12.04	1.818863|1.818863	0.32145|0.32145	.|.	.|.	ENSG00000105327|ENSG00000105327	ENST00000439096;ENST00000341983|ENST00000449228;ENST00000300880	.|.	.|.	.|.	4.68|4.68	3.59|3.59	0.41128|0.41128	.|.	0.823352|.	0.10119|.	N|.	0.713622|.	T|T	0.29355|0.29355	0.0731|0.0731	N|N	0.08118|0.08118	0|0	0.19775|0.19775	N|N	0.999956|0.999956	P;B|P;P	0.35575|0.51351	0.51;0.193|0.904;0.944	B;B|P;P	0.31686|0.52957	0.134;0.04|0.625;0.714	T|T	0.07751|0.07751	-1.0756|-1.0756	9|8	0.46703|0.87932	T|D	0.11|0	.|.	9.1097|9.1097	0.36720|0.36720	0.0:0.0:0.7653:0.2347|0.0:0.0:0.7653:0.2347	.|.	123;185|219;59	Q9BXH1-2;Q9BXH1|E9PAW3;Q96PG8	.;BBC3_HUMAN|.;.	Y|L	185;123|219;59	.|.	ENSP00000341155:H123Y|ENSP00000300880:P59L	H|P	-|-	1|2	0|0	BBC3|BBC3	52416928|52416928	0.994000|0.994000	0.37717|0.37717	0.934000|0.934000	0.37439|0.37439	0.997000|0.997000	0.91878|0.91878	2.769000|2.769000	0.47654|0.47654	2.427000|2.427000	0.82271|0.82271	0.655000|0.655000	0.94253|0.94253	CAC|CCA		PASS	0.667	BBC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466874.1	NM_014417		7	15	7	15	---	---	---	---
LILRB4	11006	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:55179342C>T	ENST00000391736.1	+	14	1534	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	407					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P407S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATCTGAAGCCCCCCAGGATGT	0.647																																						uc002qgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1219-1221)CCC>TCC		leukocyte immunoglobulin-like receptor,							62.0	67.0	66.0					19																	55179342		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179342C>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1219C>T	19.37:g.55179342C>T	ENSP00000375616:p.Pro407Ser					LILRB4_uc002qgq.2_Missense_Mutation_p.P406S|LILRB4_uc002qgr.2_Missense_Mutation_p.P449S|LILRB4_uc010ert.2_Missense_Mutation_p.P448S|LILRB4_uc010eru.2_Missense_Mutation_p.P437S	p.P407S	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1581	+			407			Cytoplasmic (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1219C>T	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556618	0.27827	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00505	7.11;7.11;7.11;6.93;7.12	2.07	2.07	0.26955	.	.	.	.	.	T	0.00906	0.0030	L	0.48935	1.535	0.20764	N	0.999854	D;D;B;B	0.76494	0.999;0.999;0.007;0.001	D;D;B;B	0.76575	0.972;0.988;0.01;0.001	T	0.57946	-0.7723	9	0.22706	T	0.39	.	7.5752	0.27931	0.0:1.0:0.0:0.0	.	354;408;406;407	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	S	407;407;406;354;408	ENSP00000375616:P407S;ENSP00000270452:P407S;ENSP00000408995:P406S;ENSP00000375614:P354S;ENSP00000375613:P408S	ENSP00000270452:P407S	P	+	1	0	LILRB4	59871154	0.007000	0.16637	0.721000	0.30653	0.421000	0.31385	0.250000	0.18235	1.166000	0.42689	0.407000	0.27541	CCC		PASS	0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			4	72	4	72	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55447727	55447727	+	Silent	SNP	C	C	T	rs141917868		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:55447727C>T	ENST00000590030.1	-	5	2242	c.2202G>A	c.(2200-2202)acG>acA	p.T734T	NLRP7_ENST00000448121.2_Silent_p.T706T|NLRP7_ENST00000446217.1_Silent_p.T762T|NLRP7_ENST00000592784.1_Silent_p.T734T|NLRP7_ENST00000588756.1_Silent_p.T734T|NLRP7_ENST00000340844.2_Silent_p.T734T|NLRP7_ENST00000328092.5_Silent_p.T706T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	734							ATP binding (GO:0005524)	p.T706T(1)|p.T734T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGGTCAGGTGCGTGAGGGTCT	0.517																																						uc002qih.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(2200-2202)ACG>ACA		NACHT, leucine rich repeat and PYD containing 7		C	,,	0,4406		0,0,2203	115.0	90.0	98.0		2202,2118,2202	-4.4	0.0	19	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	734/1038,706/1010,734/981	55447727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55447727C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2202G>A	19.37:g.55447727C>T						NLRP7_uc002qig.3_Silent_p.T706T|NLRP7_uc002qii.3_Silent_p.T734T|NLRP7_uc010esk.2_Silent_p.T734T|NLRP7_uc010esl.2_Silent_p.T762T	p.T734T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2278	-			734					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.2202G>A	CCDS33109.1																																																																																				PASS	0.517	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		16	32	16	32	---	---	---	---
DNAAF3	352909	broad.mit.edu	37	19	55670653	55670653	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:55670653G>A	ENST00000524407.2	-	12	1436	c.1403C>T	c.(1402-1404)gCt>gTt	p.A468V	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A414V|TNNI3_ENST00000590463.1_5'Flank|CTD-2587H24.4_ENST00000587871.1_Silent_p.S129S|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A515V|TNNI3_ENST00000588882.1_5'Flank|DNAAF3_ENST00000527223.2_Missense_Mutation_p.A535V|TNNI3_ENST00000344887.5_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	468					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)		p.A515V(1)									GGGTTCCACAGCTGGGACAGT	0.632																																						uc002qji.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1402-1404)GCT>GTT		RecName: Full=UPF0470 protein C19orf51;							36.0	41.0	39.0					19																	55670653		1978	4154	6132	SO:0001583	missense	352909							g.chr19:55670653G>A	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.1403C>T	19.37:g.55670653G>A	ENSP00000432046:p.Ala468Val					TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.A283V|C19orf51_uc002qjj.1_Missense_Mutation_p.A515V|C19orf51_uc002qjk.1_Missense_Mutation_p.A414V|C19orf51_uc002qjl.1_Missense_Mutation_p.A535V	p.A468V			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1437	-			468					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.1403C>T	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	g	19.94	3.920724	0.73213	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.22539	1.96;1.95	3.42	3.42	0.39159	.	0.195626	0.25425	N	0.030763	T	0.32102	0.0818	L	0.53249	1.67	0.09310	N	1	P;P;P;D	0.54207	0.939;0.939;0.932;0.965	P;P;P;P	0.55871	0.71;0.71;0.558;0.786	T	0.06075	-1.0847	10	0.29301	T	0.29	-3.4667	13.1617	0.59548	0.0:0.0:1.0:0.0	.	535;414;488;468	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	V	535;414;515	ENSP00000394343:A414V;ENSP00000375600:A515V	ENSP00000301249:A535V	A	-	2	0	C19orf51	60362465	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	0.592000	0.23984	2.235000	0.73313	0.556000	0.70494	GCT		PASS	0.632	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		5	50	5	50	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31671225	31671225	+	Silent	SNP	A	A	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr20:31671225A>G	ENST00000375483.3	+	3	222	c.222A>G	c.(220-222)gtA>gtG	p.V74V		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	74						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.V35V(1)									CCCCCCCAGTATATACCAACG	0.488																																						uc010zue.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)GTA>GTG		antimicrobial peptide RY2G5 precursor							86.0	84.0	85.0					20																	31671225		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671225A>G	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.222A>G	20.37:g.31671225A>G							p.V74V	NM_182519	NP_872325	P59827	LPLC4_HUMAN			3	237	+			74					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.222A>G	CCDS13213.2																																																																																				PASS	0.488	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		57	110	57	110	---	---	---	---
TOMM34	10953	broad.mit.edu	37	20	43585127	43585127	+	Splice_Site	SNP	C	C	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr20:43585127C>A	ENST00000372813.3	-	2	280		c.e2-1		PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34						protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TCTGAAGAACCTGCCCAGATA	0.468																																						uc002xmy.2																			1	Unknown(1)		lung(1)		0						c.e2-1		translocase of outer mitochondrial membrane 34							133.0	127.0	129.0					20																	43585127		2203	4300	6503	SO:0001630	splice_region_variant	10953				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	g.chr20:43585127C>A	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.128-1G>T	20.37:g.43585127C>A						PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_Splice_Site	p.G43_splice	NM_006809	NP_006800	Q15785	TOM34_HUMAN			2	268	-		Myeloproliferative disorder(115;0.0122)						Q53GH9|Q6IBN7|Q9NTZ3	Splice_Site	SNP	ENST00000372813.3	37	c.128_splice	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695957	0.68386	.	.	ENSG00000025772	ENST00000372813	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0861	0.72155	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOMM34	43018541	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.079000	0.57613	2.562000	0.86427	0.491000	0.48974	.		PASS	0.468	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809	Intron	6	109	6	109	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47444188	47444188	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr20:47444188G>T	ENST00000371941.3	-	1	232	c.210C>A	c.(208-210)ttC>ttA	p.F70L	PREX1_ENST00000396220.1_Missense_Mutation_p.F70L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	70	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F70L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCGACTGCAAGAAGCGCAAGG	0.706																																						uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(208-210)TTC>TTA		phosphatidylinositol-3,4,							13.0	15.0	14.0					20																	47444188		2188	4290	6478	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47444188G>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.210C>A	20.37:g.47444188G>T	ENSP00000361009:p.Phe70Leu						p.F70L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		1	233	-			70			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.210C>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246760	0.39697	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.60920	0.15;0.15	3.45	1.46	0.22682	Dbl homology (DH) domain (5);	0.000000	0.34291	U	0.004095	T	0.33411	0.0862	N	0.11560	0.145	0.80722	D	1	B	0.06786	0.001	B	0.19148	0.024	T	0.04281	-1.0963	10	0.29301	T	0.29	.	8.6275	0.33899	0.1959:0.0:0.8041:0.0	.	70	Q8TCU6	PREX1_HUMAN	L	70	ENSP00000361009:F70L;ENSP00000379522:F70L	ENSP00000361009:F70L	F	-	3	2	PREX1	46877595	1.000000	0.71417	0.998000	0.56505	0.515000	0.34225	2.204000	0.42761	0.190000	0.20209	0.205000	0.17691	TTC		PASS	0.706	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		8	6	8	6	---	---	---	---
KRTAP12-2	353323	broad.mit.edu	37	21	46086489	46086489	+	Silent	SNP	G	G	A	rs371213509		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr21:46086489G>A	ENST00000360770.3	-	1	355	c.315C>T	c.(313-315)tgC>tgT	p.C105C	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	105	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)		p.C105C(1)		central_nervous_system(1)|endometrium(1)|lung(3)	5						TCACAGGCACGCACAGGGAGG	0.652																																						uc002zfu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)TGC>TGT		keratin associated protein 12-2		G	,	1,4333		0,1,2166	60.0	69.0	66.0		,315	0.1	0.0	21		66	0,8500		0,0,4250	no	intron,coding-synonymous	TSPEAR,KRTAP12-2	NM_144991.2,NM_181684.2	,	0,1,6416	AA,AG,GG		0.0,0.0231,0.0078	,	,105/147	46086489	1,12833	2167	4250	6417	SO:0001819	synonymous_variant	353323					keratin filament		g.chr21:46086489G>A	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.315C>T	21.37:g.46086489G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C105C	NM_181684	NP_859012	P59991	KR122_HUMAN			1	356	-			105			23 X 5 AA approximate repeats.|18.		A6NIS1|A6NMS9|Q0VAS4	Silent	SNP	ENST00000360770.3	37	c.315C>T	CCDS42965.1																																																																																				PASS	0.652	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		17	42	17	42	---	---	---	---
SLC5A1	6523	broad.mit.edu	37	22	32506092	32506092	+	Silent	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr22:32506092G>A	ENST00000266088.4	+	15	2137	c.1887G>A	c.(1885-1887)aaG>aaA	p.K629K	SLC5A1_ENST00000543737.1_Silent_p.K502K	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	629					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.K629K(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AAGCCATGAAGATGAAGATGA	0.483																																						uc003amc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1885-1887)AAG>AAA		solute carrier family 5 (sodium/glucose							264.0	205.0	225.0					22																	32506092		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32506092G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1887G>A	22.37:g.32506092G>A						SLC5A1_uc011alz.1_Silent_p.K502K	p.K629K	NM_000343	NP_000334	P13866	SC5A1_HUMAN			15	2119	+			629			Cytoplasmic (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1887G>A	CCDS13902.1																																																																																				PASS	0.483	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		66	35	66	35	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40060851	40060851	+	Silent	SNP	C	C	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr22:40060851C>T	ENST00000402142.3	+	21	3774	c.3774C>T	c.(3772-3774)tcC>tcT	p.S1258S	CACNA1I_ENST00000401624.1_Silent_p.S1258S|CACNA1I_ENST00000400164.3_Silent_p.S1223S|CACNA1I_ENST00000407673.1_Silent_p.S1223S|CACNA1I_ENST00000336649.4_Silent_p.S1264S|CACNA1I_ENST00000404898.1_Silent_p.S1223S	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1258					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.S1223S(1)|p.S1258S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGTGGTGTCCCTGGCCTCAG	0.652																																						uc003ayc.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(3772-3774)TCC>TCT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						57.0	65.0	62.0					22																	40060851		2115	4216	6331	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060851C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3774C>T	22.37:g.40060851C>T						CACNA1I_uc003ayd.2_Silent_p.S1223S|CACNA1I_uc003aye.2_Silent_p.S1173S|CACNA1I_uc003ayf.2_Silent_p.S1138S	p.S1258S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			21	3774	+	Melanoma(58;0.0749)		1258			Helical; Name=S3 of repeat III; (Potential).|III.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.3774C>T	CCDS46710.1																																																																																				PASS	0.652	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		23	35	23	35	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40807497	40807497	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr22:40807497G>T	ENST00000355630.3	-	15	3283	c.2693C>A	c.(2692-2694)cCc>cAc	p.P898H	MKL1_ENST00000407029.1_Missense_Mutation_p.P898H|MKL1_ENST00000402042.1_Missense_Mutation_p.P848H|MKL1_ENST00000396617.3_3'UTR	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	898					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P898H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTCAGCACGGGACCACCTGA	0.612			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(2692-2694)CCC>CAC		megakaryoblastic leukemia 1 protein							55.0	49.0	51.0					22																	40807497		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40807497G>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2693C>A	22.37:g.40807497G>T	ENSP00000347847:p.Pro898His					MKL1_uc003ayw.1_Missense_Mutation_p.P898H|MKL1_uc010gye.1_3'UTR|MKL1_uc010gyf.1_Missense_Mutation_p.P848H	p.P898H	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			12	2900	-			898					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2693C>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035983	0.54896	.	.	ENSG00000196588	ENST00000355630;ENST00000402042;ENST00000407029;ENST00000499213	T;T;T	0.45276	0.9;0.9;0.9	4.76	3.71	0.42584	.	0.817493	0.11619	N	0.545903	T	0.51601	0.1684	L	0.39898	1.24	0.80722	D	1	D;D	0.69078	0.991;0.997	P;P	0.57283	0.707;0.817	T	0.53121	-0.8483	10	0.87932	D	0	-14.5963	14.4889	0.67637	0.0:0.0:0.852:0.148	.	848;898	B0QY83;Q969V6	.;MKL1_HUMAN	H	898;848;898;52	ENSP00000347847:P898H;ENSP00000385584:P848H;ENSP00000385835:P898H	ENSP00000347847:P898H	P	-	2	0	MKL1	39137443	0.823000	0.29233	0.483000	0.27378	0.317000	0.28152	3.714000	0.54889	1.329000	0.45376	0.561000	0.74099	CCC		PASS	0.612	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		5	43	5	43	---	---	---	---
PRPS2	5634	broad.mit.edu	37	X	12817407	12817407	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:12817407G>T	ENST00000380668.5	+	2	332	c.204G>T	c.(202-204)atG>atT	p.M68I	PRPS2_ENST00000489404.1_Missense_Mutation_p.M68I|PRPS2_ENST00000398491.2_Missense_Mutation_p.M68I	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	68					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.M68I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						ACAACCTGATGGAACTCCTCA	0.493																																						uc004cvb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)ATG>ATT		phosphoribosyl pyrophosphate synthetase 2							153.0	130.0	138.0					X																	12817407		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12817407G>T	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.204G>T	X.37:g.12817407G>T	ENSP00000370043:p.Met68Ile					PRPS2_uc004cva.2_Missense_Mutation_p.M68I|PRPS2_uc010nec.2_Missense_Mutation_p.M1I	p.M68I	NM_002765	NP_002756	P11908	PRPS2_HUMAN			2	328	+			68					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.204G>T	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183077	0.57800	.	.	ENSG00000101911	ENST00000380663;ENST00000380668;ENST00000398491;ENST00000489404	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.93475	0.7918	M	0.86097	2.795	0.80722	D	1	B;B	0.15473	0.009;0.013	B;B	0.21708	0.023;0.036	D	0.90744	0.4652	10	0.66056	D	0.02	-51.0686	19.1045	0.93287	0.0:0.0:1.0:0.0	.	68;68	P11908;P11908-2	PRPS2_HUMAN;.	I	68	ENSP00000370038:M68I;ENSP00000370043:M68I;ENSP00000381504:M68I;ENSP00000419380:M68I	ENSP00000370038:M68I	M	+	3	0	PRPS2	12727328	1.000000	0.71417	0.997000	0.53966	0.463000	0.32649	9.273000	0.95719	2.462000	0.83206	0.513000	0.50165	ATG		PASS	0.493	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		5	73	5	73	---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12904135	12904135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:12904135G>T	ENST00000380659.3	+	3	647	c.508G>T	c.(508-510)Gaa>Taa	p.E170*		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	170					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.E170*(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GAATCTAACAGAACTGGCCAA	0.418																																						uc004cvc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(508-510)GAA>TAA		toll-like receptor 7 precursor	Imiquimod(DB00724)						42.0	42.0	42.0					X																	12904135		2203	4296	6499	SO:0001587	stop_gained	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904135G>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.508G>T	X.37:g.12904135G>T	ENSP00000370034:p.Glu170*						p.E170*	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	647	+			170			LRR 5.|Extracellular (Potential).		D1CS69|Q9NR98	Nonsense_Mutation	SNP	ENST00000380659.3	37	c.508G>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	37	6.202459	0.97371	.	.	ENSG00000196664	ENST00000380659	.	.	.	5.62	4.76	0.60689	.	0.058361	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	13.6962	0.62580	0.0763:0.0:0.9237:0.0	.	.	.	.	X	170	.	ENSP00000370034:E170X	E	+	1	0	TLR7	12814056	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	7.949000	0.87791	1.143000	0.42306	0.589000	0.80489	GAA		PASS	0.418	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		5	35	5	35	---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12938148	12938148	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:12938148G>T	ENST00000218032.6	+	2	1076	c.989G>T	c.(988-990)gGg>gTg	p.G330V	TLR8_ENST00000311912.5_Missense_Mutation_p.G348V	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	330					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.G348V(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ATAGCCTCTGGGGCATTTTTA	0.388																																						uc004cve.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|large_intestine(1)	7						c.(988-990)GGG>GTG		toll-like receptor 8 precursor							67.0	70.0	69.0					X																	12938148		2200	4293	6493	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938148G>T	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.989G>T	X.37:g.12938148G>T	ENSP00000218032:p.Gly330Val					TLR8_uc004cvd.2_Missense_Mutation_p.G348V	p.G330V	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	1057	+			330			LRR 8.|Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.989G>T	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955675	0.34471	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.00986	5.47;5.47	5.29	5.29	0.74685	.	0.000000	0.39407	N	0.001377	T	0.07234	0.0183	M	0.91561	3.22	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	T	0.00240	-1.1887	10	0.72032	D	0.01	.	12.9441	0.58364	0.0:0.3144:0.6856:0.0	.	330;348	Q9NR97;D1CS70	TLR8_HUMAN;.	V	330;348	ENSP00000218032:G330V;ENSP00000312082:G348V	ENSP00000218032:G330V	G	+	2	0	TLR8	12848069	0.829000	0.29322	0.952000	0.39060	0.087000	0.18053	1.208000	0.32345	2.348000	0.79779	0.600000	0.82982	GGG		PASS	0.388	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		19	20	19	20	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39932857	39932857	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:39932857G>T	ENST00000378444.4	-	4	1970	c.1742C>A	c.(1741-1743)aCc>aAc	p.T581N	BCOR_ENST00000397354.3_Missense_Mutation_p.T581N|BCOR_ENST00000342274.4_Missense_Mutation_p.T581N|BCOR_ENST00000378455.4_Missense_Mutation_p.T581N	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	581					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T581N(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCTGGTTTTGGTGCCATCTGC	0.617			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1741-1743)ACC>AAC		BCL-6 interacting corepressor isoform c							80.0	68.0	72.0					X																	39932857		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932857G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1742C>A	X.37:g.39932857G>T	ENSP00000367705:p.Thr581Asn					BCOR_uc004dep.3_Missense_Mutation_p.T581N|BCOR_uc004deo.3_Missense_Mutation_p.T581N|BCOR_uc004dem.3_Missense_Mutation_p.T581N|BCOR_uc004deq.3_Missense_Mutation_p.T581N	p.T581N	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	2034	-			581					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.1742C>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498776	0.26861	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	5.6	1.59	0.23543	.	.	.	.	.	T	0.06781	0.0173	N	0.14661	0.345	0.23473	N	0.997601	B;B;B;B	0.21821	0.061;0.061;0.037;0.061	B;B;B;B	0.26310	0.068;0.068;0.031;0.068	T	0.36529	-0.9744	9	0.66056	D	0.02	-11.0028	6.0522	0.19792	0.0802:0.4437:0.3657:0.1104	.	581;581;581;581	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	N	581	ENSP00000367716:T581N;ENSP00000380512:T581N;ENSP00000367705:T581N;ENSP00000345923:T581N;ENSP00000384485:T581N	ENSP00000345923:T581N	T	-	2	0	BCOR	39817801	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.376000	0.44292	0.543000	0.28864	0.600000	0.82982	ACC		PASS	0.617	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		7	58	7	58	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54099692	54099692	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:54099692A>T	ENST00000375180.2	-	16	3121	c.3065T>A	c.(3064-3066)cTg>cAg	p.L1022Q	FAM120C_ENST00000328235.4_Missense_Mutation_p.W885R	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1022							poly(A) RNA binding (GO:0044822)	p.L1022Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATGAAGCTCCAGGGATTTAGA	0.463																																						uc004dsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3064-3066)CTG>CAG		hypothetical protein LOC54954							73.0	62.0	65.0					X																	54099692		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54099692A>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.3065T>A	X.37:g.54099692A>T	ENSP00000364324:p.Leu1022Gln					FAM120C_uc011moh.1_Missense_Mutation_p.W885R	p.L1022Q	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			16	3148	-			1022					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.3065T>A	CCDS14356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.72|14.72	2.620147|2.620147	0.46736|0.46736	.|.	.|.	ENSG00000184083|ENSG00000184083	ENST00000375180|ENST00000328235	T|T	0.25579|0.31510	1.79|1.49	5.25|5.25	2.61|2.61	0.31194|0.31194	.|.	1.074810|.	0.07282|.	N|.	0.870867|.	T|T	0.13372|0.13372	0.0324|0.0324	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	P|P	0.47484|0.39782	0.896|0.688	P|B	0.48400|0.37304	0.576|0.246	T|T	0.04961|0.04961	-1.0915|-1.0915	10|9	0.17832|0.87932	T|D	0.49|0	-1.2258|-1.2258	3.5062|3.5062	0.07691|0.07691	0.5398:0.1952:0.265:0.0|0.5398:0.1952:0.265:0.0	.|.	1022|885	Q9NX05|F8W881	F120C_HUMAN|.	Q|R	1022|885	ENSP00000364324:L1022Q|ENSP00000329896:W885R	ENSP00000364324:L1022Q|ENSP00000329896:W885R	L|W	-|-	2|1	0|0	FAM120C|FAM120C	54116417|54116417	0.836000|0.836000	0.29430|0.29430	1.000000|1.000000	0.80357|0.80357	0.571000|0.571000	0.35966|0.35966	1.741000|1.741000	0.38238|0.38238	1.751000|1.751000	0.51876|0.51876	0.486000|0.486000	0.48141|0.48141	CTG|TGG		PASS	0.463	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		8	25	8	25	---	---	---	---
CDX4	1046	broad.mit.edu	37	X	72673420	72673420	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:72673420G>T	ENST00000373514.2	+	2	570	c.570G>T	c.(568-570)aaG>aaT	p.K190N		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	190					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.K190N(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGCTGGAAAAGGAATTCCATT	0.403																																						uc011mqk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)AAG>AAT		caudal type homeobox 4							88.0	74.0	79.0					X																	72673420		2203	4300	6503	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72673420G>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.570G>T	X.37:g.72673420G>T	ENSP00000362613:p.Lys190Asn						p.K190N	NM_005193	NP_005184	O14627	CDX4_HUMAN			2	570	+	Renal(35;0.156)		190			Homeobox.		A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.570G>T	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.183382	0.38511	.	.	ENSG00000131264	ENST00000373514	D	0.96491	-4.03	3.63	0.73	0.18271	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.125570	0.52532	D	0.000074	D	0.96651	0.8907	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94599	0.7794	10	0.87932	D	0	-11.7869	6.8988	0.24271	0.4606:0.0:0.5394:0.0	.	190	O14627	CDX4_HUMAN	N	190	ENSP00000362613:K190N	ENSP00000362613:K190N	K	+	3	2	CDX4	72590145	1.000000	0.71417	0.998000	0.56505	0.543000	0.35085	1.477000	0.35431	0.084000	0.17077	0.436000	0.28706	AAG		PASS	0.403	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		3	9	3	9	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963358	73963358	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:73963358C>A	ENST00000055682.6	-	3	1645	c.1034G>T	c.(1033-1035)tGc>tTc	p.C345F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	345					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.C345F(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCGCTTGGGGCAGGTAGTAAA	0.463																																						uc004eby.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1033-1035)TGC>TTC		hypothetical protein LOC340533							57.0	51.0	53.0					X																	73963358		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963358C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1034G>T	X.37:g.73963358C>A	ENSP00000055682:p.Cys345Phe						p.C345F	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	1651	-			345					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1034G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196231	0.58126	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.71698	-0.59;-0.59	5.93	5.93	0.95920	.	0.047117	0.85682	D	0.000000	D	0.83977	0.5371	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84963	0.0878	10	0.87932	D	0	-6.769	19.2973	0.94128	0.0:1.0:0.0:0.0	.	345	Q5QGS0	K2022_HUMAN	F	345	ENSP00000362567:C345F;ENSP00000055682:C345F	ENSP00000055682:C345F	C	-	2	0	KIAA2022	73880083	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.487000	0.81328	2.510000	0.84645	0.600000	0.82982	TGC		PASS	0.463	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		19	20	19	20	---	---	---	---
ARL13A	392509	broad.mit.edu	37	X	100242388	100242388	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:100242388T>A	ENST00000450049.2	+	6	609	c.496T>A	c.(496-498)Tca>Aca	p.S166T		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	166					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						GGAGCCATGTTCAGCCATCAG	0.512																																						uc004ego.2																			0				ovary(1)	1						c.(496-498)TCA>ACA		ADP-ribosylation factor-like 13 isoform a							88.0	77.0	81.0					X																	100242388		1907	4117	6024	SO:0001583	missense	392509						GTP binding	g.chrX:100242388T>A		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.496T>A	X.37:g.100242388T>A	ENSP00000398637:p.Ser166Thr					ARL13A_uc011mrf.1_Missense_Mutation_p.S166T|ARL13A_uc010nng.2_Missense_Mutation_p.S166T	p.S166T	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN			6	612	+			166					B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	c.496T>A	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.960978	0.74016	.	.	ENSG00000174225	ENST00000450049;ENST00000372953	D	0.89875	-2.58	4.56	4.56	0.56223	.	0.071432	0.64402	D	0.000018	D	0.92890	0.7738	M	0.85859	2.78	0.37440	D	0.914398	P;P	0.46395	0.877;0.592	P;P	0.56916	0.809;0.672	D	0.94491	0.7701	10	0.66056	D	0.02	.	9.2945	0.37806	0.0:0.0:0.0:1.0	.	166;166	B2RTT6;Q5H913	.;AR13A_HUMAN	T	166;40	ENSP00000398637:S166T	ENSP00000362044:S40T	S	+	1	0	ARL13A	100129044	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.552000	0.53705	2.017000	0.59298	0.486000	0.48141	TCA		PASS	0.512	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		5	23	5	23	---	---	---	---
MIR892A	100126342	broad.mit.edu	37	X	145075861	145075861	+	RNA	SNP	G	G	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:145075861G>A	ENST00000401124.1	-	0	75				hsa-mir-892c_ENST00000516410.1_RNA|MIR892B_ENST00000401279.1_RNA|MIR888_ENST00000401186.1_RNA|MIR890_ENST00000401256.1_RNA	NR_030584.1				microRNA 892a																		TTCCAAGTAGGGCACTTCCCA	0.483																																						hsa-mir-890|MI0005533																			0					0															133.0	106.0	114.0					X																	145075861		1568	3582	5150			100126303							g.chrX:145075861G>A			Xq27.3	2011-09-12		2008-12-18	ENSG00000215943	ENSG00000215943		"""ncRNAs / Micro RNAs"""	33639	non-coding RNA	RNA, micro				MIRN892A			Standard	NR_030584		Approved	hsa-mir-892a	uc022cfq.1				X.37:g.145075861G>A																-									RNA	SNP	ENST00000401124.1	37	c.9G>A																																																																																					PASS	0.483	MIR892A-201	KNOWN	basic	miRNA	miRNA		NR_030584		7	99	7	99	---	---	---	---
PLEKHN1	84069	broad.mit.edu	37	1	911962	911964	+	IGR	DEL	TTC	TTC	-	rs374445170		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:911962_911964delTTC	ENST00000379409.2	+	0	2455				C1orf170_ENST00000433179.2_In_Frame_Del_p.636_637QN>H|C1orf170_ENST00000341290.2_In_Frame_Del_p.616_617QN>H			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1											central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCACATGTCATTCTGGCTGAAGG	0.611																																						uc001ach.2																			0					0						c.(1846-1851)CAGAAT>CAT		RecName: Full=Uncharacterized protein C1orf170;																																				SO:0001628	intergenic_variant	84808							g.chr1:911962_911964delTTC	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756		1.37:g.911962_911964delTTC						C1orf170_uc001acg.2_RNA	p.616_617QN>H	NR_027693						4	1884_1886	-								Q494U2|Q5SV98|Q9H0M7	In_Frame_Del	DEL	ENST00000379409.2	37	c.1848_1850delGAA																																																																																						0.611	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		2	4	2	4	---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71027024	71027030	+	Frame_Shift_Del	DEL	TGGGTCC	TGGGTCC	-			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:71027024_71027030delTGGGTCC	ENST00000318789.4	-	15	1822_1828	c.1297_1303delGGACCCA	c.(1297-1305)ggacccatcfs	p.GPI433fs	FOXP1_ENST00000475937.1_Frame_Shift_Del_p.GPI433fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.GPI433fs|FOXP1_ENST00000498215.1_Frame_Shift_Del_p.GPI433fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.GPI433fs|FOXP1_ENST00000491238.1_Frame_Shift_Del_p.GPI435fs|FOXP1_ENST00000484350.1_Frame_Shift_Del_p.GPI357fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	433					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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGCCTGCGGATGGGTCCCACCGTGTGC	0.546			T	PAX5	ALL																																	uc003dol.2				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				ovary(1)|lung(1)	2						c.(1297-1305)GGACCCATCfs		forkhead box P1 isoform 1																																				SO:0001589	frameshift_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA 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 activator activity|transcription factor binding|zinc ion binding	g.chr3:71027024_71027030delTGGGTCC	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1297_1303delGGACCCA	3.37:g.71027024_71027030delTGGGTCC	ENSP00000318902:p.Gly433fs					FOXP1_uc003dom.2_Frame_Shift_Del_p.G357fs|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Frame_Shift_Del_p.G433fs|FOXP1_uc003dop.2_Frame_Shift_Del_p.G433fs|FOXP1_uc003doq.1_Frame_Shift_Del_p.G432fs|FOXP1_uc003doi.2_Frame_Shift_Del_p.G333fs|FOXP1_uc003doj.2_Frame_Shift_Del_p.G333fs|FOXP1_uc003dok.2_Frame_Shift_Del_p.G246fs|FOXP1_uc003dor.1_Frame_Shift_Del_p.G211fs	p.G433fs	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	11	1620_1626	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	433_435					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Frame_Shift_Del	DEL	ENST00000318789.4	37	c.1297_1303delGGACCCA	CCDS2914.1																																																																																					0.546	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		25	12	25	12	---	---	---	---
LINC00955	285492	broad.mit.edu	37	4	3591606	3591607	+	3'UTR	INS	-	-	ACAC	rs139255858|rs551743514|rs35459098		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:3591606_3591607insACAC	ENST00000514422.1	+	0	1377_1378									long intergenic non-protein coding RNA 955																		TACATGGAAATacacacacact	0.401																																						uc003ghj.1																			0													Homo sapiens cDNA FLJ35424 fis, clone SMINT2001461.																																				SO:0001624	3_prime_UTR_variant	0							g.chr4:3591606_3591607insACAC	AK092743		4p16.3	2014-04-09			ENSG00000216560	ENSG00000216560			26644	other	unknown							Standard	NR_040045		Approved	FLJ35424			OTTHUMG00000159817	ENST00000514422.1:c.*507->ACAC	4.37:g.3591611_3591614dupACAC						uc003ghk.1_Intron								3		+									RNA	INS	ENST00000514422.1	37	c.1377_1378insACAC																																																																																						0.401	LINC00955-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357538.6			5	3	5	3	---	---	---	---
MCU	90550	broad.mit.edu	37	10	74451958	74451960	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:74451958_74451960delGGC	ENST00000373053.3	+	1	70_72	c.49_51delGGC	c.(49-51)ggcdel	p.G22del	MCU_ENST00000357157.6_In_Frame_Del_p.G22del|MCU_ENST00000536019.1_5'Flank	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	22					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CTCCTCTCGGggcggcggcggcg	0.768																																						uc001jtc.2																			0					0						c.(49-51)GGCdel		coiled-coil domain containing 109A				25,2379		3,19,1180						3.5	1.0			3	65,5551		4,57,2747	no	coding	MCU	NM_138357.1		7,76,3927	A1A1,A1R,RR		1.1574,1.0399,1.1222				90,7930				SO:0001651	inframe_deletion	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74451958_74451960delGGC	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.49_51delGGC	10.37:g.74451967_74451969delGGC	ENSP00000362144:p.Gly22del					CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_In_Frame_Del_p.G22del|CCDC109A_uc001jtd.2_5'Flank	p.G22del	NM_138357	NP_612366	Q8NE86	MCU_HUMAN			1	70_72	+	Prostate(51;0.0198)		22			Mitochondrial matrix (Potential).		B2RDF3|B3KXV7|Q96FL3	In_Frame_Del	DEL	ENST00000373053.3	37	c.49_51delGGC	CCDS7317.1																																																																																					0.768	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		4	2	4	2	---	---	---	---
LOC283038	283038	broad.mit.edu	37	10	127394567	127394568	+	lincRNA	INS	-	-	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:127394567_127394568insA	ENST00000415305.2	+	0	324				RP11-383C5.4_ENST00000423178.2_lincRNA	NR_033848.1																						CCTCAGGCTTCACGACCCTTCC	0.545																																						uc001lim.1																			0													Homo sapiens cDNA FLJ37035 fis, clone BRACE2011545.																																						0							g.chr10:127394567_127394568insA																													10.37:g.127394568_127394568dupA						uc001lil.2_Intron								5		-									RNA	INS	ENST00000415305.2	37	c.1818_1819insT																																																																																						0.545	RP11-383C5.3-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000050916.2			4	2	4	2	---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19592829	19592840	+	In_Frame_Del	DEL	GGCGGCGGAGGC	GGCGGCGGAGGC	-	rs558021601	byFrequency	TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr12:19592829_19592840delGGCGGCGGAGGC	ENST00000398864.3	+	1	222_233	c.196_207delGGCGGCGGAGGC	c.(196-207)ggcggcggaggcdel	p.GGGG70del	AEBP2_ENST00000541908.1_Intron|AEBP2_ENST00000360995.4_5'Flank|AEBP2_ENST00000266508.9_In_Frame_Del_p.GGGG70del	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	70	Glu-rich.|Gly-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					cagcggtgggggcggcggaggcggcggcggAG	0.755														6	0.00119808	0.0	0.0014	5008	,	,		8931	0.0		0.0	False		,,,				2504	0.0051					uc001ref.2																			0				ovary(1)	1						c.(196-207)GGCGGCGGAGGCdel		AE binding protein 2 isoform b			,	20,1624		9,2,811					,	-2.5	0.1			5	28,3942		12,4,1969	no	coding,coding	AEBP2	NM_153207.4,NM_001114176.1	,	21,6,2780	A1A1,A1R,RR		0.7053,1.2165,0.855	,	,		48,5566				SO:0001651	inframe_deletion	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19592829_19592840delGGCGGCGGAGGC		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.196_207delGGCGGCGGAGGC	12.37:g.19592829_19592840delGGCGGCGGAGGC	ENSP00000381840:p.Gly70_Gly73del					AEBP2_uc001ree.2_In_Frame_Del_p.GGGG70del|AEBP2_uc001reg.1_5'Flank	p.GGGG70del	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN			1	222_233	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		70_73			Glu-rich.|Gly-rich.		Q59FS5|Q6ZN62|Q96BG3	In_Frame_Del	DEL	ENST00000398864.3	37	c.196_207delGGCGGCGGAGGC	CCDS44841.1																																																																																					0.755	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		5	5	5	5	---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25223030	25223030	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr15:25223030delC	ENST00000400100.1	+	11	1416	c.526delC	c.(526-528)cccfs	p.P178fs	SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P182fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P178fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P178fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P178fs|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P178fs|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P178fs|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000444203.2_Frame_Shift_Del_p.P182fs	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	178	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGCACTCCGCCCCCACCCGT	0.567									Prader-Willi syndrome																													uc001ywp.1																			0				ovary(1)	1						c.(526-528)CCCfs		small nuclear ribonucleoprotein polypeptide N							27.0	30.0	29.0					15																	25223030		1934	4143	6077	SO:0001589	frameshift_variant	6638	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223030delC	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.526delC	15.37:g.25223030delC	ENSP00000382972:p.Pro178fs					SNRPN_uc001ywq.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywr.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001yws.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywt.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywv.1_Frame_Shift_Del_p.P179fs|SNRPN_uc001yww.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywx.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.P176fs	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	11	1416	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	176			|Repeat-rich region.		B3KVR1|P14648|P17135|Q0D2Q5	Frame_Shift_Del	DEL	ENST00000400100.1	37	c.526delC	CCDS10017.1																																																																																					0.567	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		5	10	5	10	---	---	---	---
KLK11	11012	broad.mit.edu	37	19	51525823	51525824	+	Frame_Shift_Ins	INS	-	-	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:51525823_51525824insG	ENST00000594768.1	-	6	1011_1012	c.826_827insC	c.(826-828)cagfs	p.Q276fs	KLK10_ENST00000358789.3_5'Flank|KLK11_ENST00000391804.3_Frame_Shift_Ins_p.Q269fs|KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000319720.7_Frame_Shift_Ins_p.Q244fs|KLK10_ENST00000391805.1_5'Flank|KLK11_ENST00000453757.3_Frame_Shift_Ins_p.Q244fs|KLK11_ENST00000600362.1_Frame_Shift_Ins_p.Q103fs|KLK10_ENST00000309958.3_5'Flank	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	276	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CATCGTCTCCTGGATCCAGTCC	0.5																																						uc002pvd.1																			0					0						c.(826-828)CAGfs		kallikrein 11 isoform 2 precursor																																				SO:0001589	frameshift_variant	11012				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51525823_51525824insG	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.827dupC	19.37:g.51525825_51525825dupG	ENSP00000473047:p.Gln276fs					KLK10_uc002puy.2_5'Flank|KLK10_uc002puz.2_5'Flank|KLK10_uc002pva.2_5'Flank|KLK11_uc002pvb.1_Frame_Shift_Ins_p.Q269fs|KLK11_uc002pve.1_Frame_Shift_Ins_p.Q133fs|KLK11_uc002pvf.1_Frame_Shift_Ins_p.Q244fs|KLK11_uc002pvc.3_Frame_Shift_Ins_p.Q244fs	p.Q276fs	NM_144947	NP_659196	Q9UBX7	KLK11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	6	938_939	-		all_neural(266;0.026)	276			Peptidase S1.		O75837|Q0WXX5|Q8IXD7|Q9NS65	Frame_Shift_Ins	INS	ENST00000594768.1	37	c.826_827insC	CCDS12818.1																																																																																					0.500	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	NM_006853		114	54	114	54	---	---	---	---
IL1RAPL2	26280	broad.mit.edu	37	X	104478546	104478547	+	Frame_Shift_Ins	INS	-	-	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:104478546_104478547insA	ENST00000372582.1	+	4	1157_1158	c.401_402insA	c.(400-405)gcagagfs	p.E135fs	IL1RAPL2_ENST00000344799.4_Frame_Shift_Ins_p.E135fs	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	135					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGACTGTTGCAGAGAATGAAT	0.396																																						uc004elz.1																			0				breast(2)|ovary(1)	3						c.(400-402)GCAfs		interleukin 1 receptor accessory protein-like 2																																				SO:0001589	frameshift_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104478546_104478547insA	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.402dupA	X.37:g.104478547_104478547dupA	ENSP00000361663:p.Glu135fs						p.A134fs	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			4	1157_1158	+			134			Extracellular (Potential).		Q2M3U3|Q9NZN0	Frame_Shift_Ins	INS	ENST00000372582.1	37	c.401_402insA	CCDS14517.1																																																																																					0.396	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		47	87	47	87	---	---	---	---
